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
ADAMTS10	81794	broad.mit.edu	37	19	8666006	8666006	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:8666006G>T	ENST00000597188.1	-	6	886	c.616C>A	c.(616-618)Cca>Aca	p.P206T	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.P206T	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	206					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCCACCATGGCCGCCCTTTC	0.627		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	19		NA											NA				8666006		2202	4298	6500	SO:0001583	missense			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303	81794	81794		ADAM metallopeptidases with thrombospondin type 1 motif	13201	protein-coding gene	gene with protein product		608990	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10		NA		Standard	NM_030957	XM_005272499	NA	Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.616C>A	19.37:g.8666006G>T	ENSP00000471851:p.Pro206Thr	NA		37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.757132	0.31137	.	.	ENSG00000142303	ENST00000270328	T	0.59502	0.26	5.47	5.47	0.80525	.	0.254626	0.32401	N	0.006146	T	0.47210	0.1433	L	0.34521	1.04	0.28790	N	0.899372	B	0.06786	0.001	B	0.08055	0.003	T	0.24621	-1.0155	10	0.12766	T	0.61	.	18.3275	0.90259	0.0:0.0:1.0:0.0	.	206	Q9H324	ATS10_HUMAN	T	206	ENSP00000270328:P206T	ENSP00000270328:P206T	P	-	1	0	ADAMTS10	8572006	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	3.922000	0.56462	2.575000	0.86900	0.555000	0.69702	CCA	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460085.3		-	ENST00000597188.1	Missense_Mutation	SNP	19 : 8666006 - 8666006 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	233	34
ALAS2	212	broad.mit.edu	37	X	55047614	55047614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:55047614C>T	ENST00000396198.3	-	5	555	c.470G>A	c.(469-471)cGc>cAc	p.R157H	ALAS2_ENST00000330807.5_Missense_Mutation_p.R170H|ALAS2_ENST00000335854.4_Missense_Mutation_p.R133H	NM_001037968.3	NP_001033057.1	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	170					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)	ATCAGCCCAGCGGTTCACAGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM983851|CM983852	ALAS2	M							170	121	137			NA	NA	X		NA											NA				55047614		2203	4300	6503	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.470G>A	X.37:g.55047614C>T	ENSP00000379501:p.Arg157His	NA	Q13735	37	CCDS43960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.145686|5.145686	0.94603|0.94603	.|.	.|.	ENSG00000158578|ENSG00000158578	ENST00000455688|ENST00000330807;ENST00000396198;ENST00000335854	.|D;D;D	.|0.95554	.|-3.74;-3.74;-3.74	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97971|0.97971	0.9332|0.9332	M|M	0.88310|0.88310	2.945|2.945	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;0.996;0.998	D|D	0.99123|0.99123	1.0850|1.0850	5|10	.|0.87932	.|D	.|0	-17.4214|-17.4214	16.2829|16.2829	0.82707|0.82707	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;157;170	.|A8K6C4;Q5JZF5;P22557	.|.;.;HEM0_HUMAN	T|H	122|170;157;133	.|ENSP00000332369:R170H;ENSP00000379501:R157H;ENSP00000337131:R133H	.|ENSP00000332369:R170H	A|R	-|-	1|2	0|0	ALAS2|ALAS2	55064339|55064339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.185000|2.185000	0.69588|0.69588	0.529000|0.529000	0.55759|0.55759	GCT|CGC	ALAS2-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056844.2		-	ENST00000396198.3	Missense_Mutation	SNP	X : 55047614 - 55047614 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	120	114
ANK3	288	broad.mit.edu	37	10	61833923	61833923	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:61833923C>T	ENST00000280772.2	-	37	6907	c.6716G>A	c.(6715-6717)cGt>cAt	p.R2239H	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_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						TTCTTTAACACGCATGCCTTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	196	201			NA	NA	10		NA											NA				61833923		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.6716G>A	10.37:g.61833923C>T	ENSP00000280772:p.Arg2239His	NA	Q5VXD5	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804751	0.70682	.	.	ENSG00000151150	ENST00000280772	T	0.67523	-0.27	6.05	6.05	0.98169	.	0.000000	0.42420	D	0.000701	T	0.64000	0.2559	L	0.56769	1.78	0.80722	D	1	P	0.52577	0.954	B	0.36666	0.23	T	0.69262	-0.5191	10	0.54805	T	0.06	.	20.6032	0.99464	0.0:1.0:0.0:0.0	.	2239	Q12955	ANK3_HUMAN	H	2239	ENSP00000280772:R2239H	ENSP00000280772:R2239H	R	-	2	0	ANK3	61503929	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.811000	0.86092	2.875000	0.98604	0.643000	0.83706	CGT	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Missense_Mutation	SNP	10 : 61833923 - 61833923 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	649	19
APPL1	26060	broad.mit.edu	37	3	57282266	57282266	+	Silent	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:57282266A>C	ENST00000288266.3	+	10	897	c.750A>C	c.(748-750)acA>acC	p.T250T		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	250	Required for RAB5A binding.				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)		TGCAACAGACAATAGAGGATT	0.428		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	3		NA											NA				57282266		2203	4300	6503	SO:0001819	synonymous_variant			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.750A>C	3.37:g.57282266A>C		NA	Q9P2B9	37	CCDS2882.1																																																																																			APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258196.2		+	ENST00000288266.3	Silent	SNP	3 : 57282266 - 57282266 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	689	175
ARHGAP31	57514	broad.mit.edu	37	3	119121128	119121128	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:119121128G>C	ENST00000264245.4	+	10	2061	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	510					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						ACGCCGTGCAGAACACCCCCG	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													47	53	51			NA	NA	3		NA											NA				119121128		2047	4198	6245	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.1529G>C	3.37:g.119121128G>C	ENSP00000264245:p.Arg510Thr	NA	Q9ULL6	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904142	0.92035	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.18657	2.2	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	T	0.45538	0.1347	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.16512	-1.0400	10	0.42905	T	0.14	.	18.1871	0.89796	0.0:0.0:1.0:0.0	.	510	Q2M1Z3	RHG31_HUMAN	T	510	ENSP00000264245:R510T	ENSP00000264245:R510T	R	+	2	0	ARHGAP31	120603818	1.000000	0.71417	0.874000	0.34290	0.996000	0.88848	9.263000	0.95617	2.774000	0.95407	0.655000	0.94253	AGA	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354942.2		+	ENST00000264245.4	Missense_Mutation	SNP	3 : 119121128 - 119121128 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	406	12
ARHGEF10	9639	broad.mit.edu	37	8	1882002	1882002	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:1882002A>G	ENST00000518288.1	+	27	3351	c.3188A>G	c.(3187-3189)aAg>aGg	p.K1063R	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K1039R|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K1064R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K1035R|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.K1001R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1064					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)		AAAGTGATCAAGTTAGGCGTC	0.433		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	8		NA											NA				1882002		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.3188A>G	8.37:g.1882002A>G	ENSP00000431012:p.Lys1063Arg	NA	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	37		.	.	.	.	.	.	.	.	.	.	A	5.753	0.323425	0.10900	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.11	2.74	0.32292	.	0.095581	0.64402	N	0.000001	T	0.27241	0.0668	L	0.41079	1.255	0.38419	D	0.946126	B;B	0.21520	0.057;0.004	B;B	0.25405	0.06;0.013	T	0.08371	-1.0725	10	0.23891	T	0.37	-32.4453	9.2439	0.37513	0.8544:0.0:0.1456:0.0	.	1001;1039	O15013-7;O15013-5	.;.	R	1039;1001;1063;1064;1035;683	ENSP00000340297:K1039R;ENSP00000427909:K1001R;ENSP00000431012:K1063R;ENSP00000381571:K1064R;ENSP00000262112:K1035R;ENSP00000427768:K683R	ENSP00000262112:K1035R	K	+	2	0	ARHGEF10	1869409	0.983000	0.35010	0.000000	0.03702	0.003000	0.03518	4.878000	0.63093	0.369000	0.24510	0.533000	0.62120	AAG	ARHGEF10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000374591.1		+	ENST00000518288.1	Missense_Mutation	SNP	8 : 1882002 - 1882002 G PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	796	202
ARHGEF17	9828	broad.mit.edu	37	11	73020596	73020596	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73020596G>C	ENST00000263674.3	+	1	1263	c.913G>C	c.(913-915)Gac>Cac	p.D305H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	305					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						ATTGGATCAGGACTGCAGGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	49	45			NA	NA	11		NA											NA				73020596		2199	4291	6490	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.913G>C	11.37:g.73020596G>C	ENSP00000263674:p.Asp305His	NA	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127584	0.20959	.	.	ENSG00000110237	ENST00000263674	T	0.59083	0.29	4.48	2.59	0.31030	.	0.431022	0.17191	N	0.183499	T	0.37812	0.1017	N	0.19112	0.55	0.09310	N	1	B	0.25169	0.119	B	0.26517	0.07	T	0.19679	-1.0298	10	0.29301	T	0.29	-5.789	6.67	0.23064	0.3027:0.0:0.6973:0.0	.	305	Q96PE2	ARHGH_HUMAN	H	305	ENSP00000263674:D305H	ENSP00000263674:D305H	D	+	1	0	ARHGEF17	72698244	0.179000	0.23135	0.263000	0.24496	0.767000	0.43475	2.280000	0.43443	0.353000	0.24079	0.313000	0.20887	GAC	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397365.1		+	ENST00000263674.3	Missense_Mutation	SNP	11 : 73020596 - 73020596 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	491	147
BEST3	144453	broad.mit.edu	37	12	70048804	70048804	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:70048804G>C	ENST00000330891.5	-	10	2116	c.1890C>G	c.(1888-1890)atC>atG	p.I630M	BEST3_ENST00000553096.1_Missense_Mutation_p.I524M|BEST3_ENST00000488961.1_Missense_Mutation_p.I417M|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	630						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)			CCACAATGTTGATCCCACTGA	0.468		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				70048804		1911	4138	6049	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.1890C>G	12.37:g.70048804G>C	ENSP00000332413:p.Ile630Met	NA	Q53YQ7|Q8N356|Q8NFT9|Q9BR80	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473125	0.26423	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98090	-4.39;-4.71;-4.68	5.53	2.67	0.31697	.	0.874202	0.10059	N	0.721139	D	0.94006	0.8080	L	0.32530	0.975	0.09310	N	1	B;B	0.18461	0.022;0.028	B;B	0.19148	0.006;0.024	D	0.88148	0.2849	10	0.44086	T	0.13	-1.6889	5.3228	0.15891	0.2378:0.2019:0.5603:0.0	.	630;417	Q8N1M1;B5MDI8	BEST3_HUMAN;.	M	417;630;524	ENSP00000433213:I417M;ENSP00000332413:I630M;ENSP00000449548:I524M	ENSP00000332413:I630M	I	-	3	3	BEST3	68335071	0.078000	0.21339	0.076000	0.20297	0.118000	0.20060	0.955000	0.29188	1.323000	0.45263	0.563000	0.77884	ATC	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313908.2		-	ENST00000330891.5	Missense_Mutation	SNP	12 : 70048804 - 70048804 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	379	94
BPIFB1	92747	broad.mit.edu	37	20	31876575	31876575	+	Silent	SNP	C	C	T	rs150828161		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:31876575C>T	ENST00000253354.1	+	3	305	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	48						extracellular space	lipid binding				NA						AGGACCACAACGCCACCAGCA	0.642		NA											C	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8407	EXOME	NA	NA	4e-04	SNP								NA				0								C		0,4406		0,0,2203	50	49	49		144	-7.5	0	20	dbSNP_134	49	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	BPIFB1	NM_033197.2		0,4,6499	TT,TC,CC	NA	0.0465,0.0,0.0308		48/485	31876575	4,13002	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.144C>T	20.37:g.31876575C>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 : 31876575 - 31876575 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	320	76
BVES	11149	broad.mit.edu	37	6	105563588	105563588	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:105563588G>A	ENST00000314641.5	-	7	1147	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	BVES_ENST00000336775.5_Missense_Mutation_p.R311W|BVES_ENST00000446408.2_Missense_Mutation_p.R311W	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	311					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	p.R311W(1)		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)				GAGGTACCCCGAAGAAACTGG	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)						G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	180	155	163		931,931,931	5.9	1	6		163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BVES	NM_001199563.1,NM_007073.4,NM_147147.3	101,101,101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	311/361,311/361,311/361	105563588	1,13005	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.931C>T	6.37:g.105563588G>A	ENSP00000313172:p.Arg311Trp	NA	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	37	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884860	0.72410	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.29397	1.57;1.57;1.57	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.55990	1.75	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.29822	-0.9999	10	0.72032	D	0.01	-21.4302	15.137	0.72576	0.0:0.0:0.8587:0.1413	.	311	Q8NE79	POPD1_HUMAN	W	311	ENSP00000313172:R311W;ENSP00000337259:R311W;ENSP00000397310:R311W	ENSP00000313172:R311W	R	-	1	2	BVES	105670281	1.000000	0.71417	0.997000	0.53966	0.708000	0.40852	3.314000	0.51943	2.822000	0.97130	0.563000	0.77884	CGG	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406075.1		-	ENST00000314641.5	Missense_Mutation	SNP	6 : 105563588 - 105563588 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	526	78
CCDC171	203238	broad.mit.edu	37	9	15678782	15678782	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr9:15678782A>T	ENST00000380701.3	+	10	1431	c.1103A>T	c.(1102-1104)aAt>aTt	p.N368I	CCDC171_ENST00000297641.3_Missense_Mutation_p.N368I	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	368	Glu-rich.										NA						TTCTCCAAAAATAAGAAACTA	0.308		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	9		NA											NA				15678782		2202	4293	6495	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.1103A>T	9.37:g.15678782A>T	ENSP00000370077:p.Asn368Ile	NA	Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001777	0.54254	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.15603	2.41;2.42	4.65	3.48	0.39840	.	0.284229	0.38436	N	0.001694	T	0.18383	0.0441	N	0.24115	0.695	0.80722	D	1	P;P;P	0.48016	0.904;0.904;0.904	P;P;P	0.53006	0.648;0.715;0.648	T	0.01657	-1.1302	10	0.39692	T	0.17	-0.7364	10.4109	0.44291	0.8358:0.1641:0.0:0.0	.	368;368;368	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	I	368	ENSP00000297641:N368I;ENSP00000370077:N368I	ENSP00000297641:N368I	N	+	2	0	C9orf93	15668782	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.389000	0.59639	0.707000	0.31934	-0.501000	0.04562	AAT	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051768.4		+	ENST00000380701.3	Missense_Mutation	SNP	9 : 15678782 - 15678782 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	251	52
CCKAR	886	broad.mit.edu	37	4	26491074	26491074	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:26491074A>C	ENST00000295589.3	-	2	339	c.145T>G	c.(145-147)Tcc>Gcc	p.S49A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	49					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)	AATATCAAGGAGTACAAGAGA	0.547		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				26491074		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.145T>G	4.37:g.26491074A>C	ENSP00000295589:p.Ser49Ala	NA	B2R9Z5	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	9.049	0.991544	0.18966	.	.	ENSG00000163394	ENST00000295589	T	0.37752	1.18	5.24	4.03	0.46877	.	0.310205	0.34986	N	0.003532	T	0.17831	0.0428	N	0.12502	0.225	0.32321	N	0.562438	B	0.16166	0.016	B	0.20184	0.028	T	0.25813	-1.0121	10	0.02654	T	1	.	11.3334	0.49490	0.8638:0.0:0.0:0.1362	.	49	P32238	CCKAR_HUMAN	A	49	ENSP00000295589:S49A	ENSP00000295589:S49A	S	-	1	0	CCKAR	26100172	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.999000	0.57031	0.796000	0.33947	0.459000	0.35465	TCC	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250418.2		-	ENST00000295589.3	Missense_Mutation	SNP	4 : 26491074 - 26491074 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	528	50
CKM	1158	broad.mit.edu	37	19	45818781	45818781	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:45818781C>T	ENST00000221476.3	-	4	597	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	141	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)	GTGGGGGCAACGTGTAGCCCT	0.682		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	42	41	41		423	-6.6	0.9	19		41	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CKM	NM_001824.3		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		141/382	45818781	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			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.423G>A	19.37:g.45818781C>T		NA	Q96QL9	37	CCDS12659.1																																																																																			CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457569.1		-	ENST00000221476.3	Silent	SNP	19 : 45818781 - 45818781 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	164	26
CPE	1363	broad.mit.edu	37	4	166418730	166418730	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:166418730T>C	ENST00000402744.4	+	9	1679	c.1399T>C	c.(1399-1401)Tgg>Cgg	p.W467R		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	467					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)	GATGGAATGGTGGAAAATGAT	0.289		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	4		NA											NA				166418730		2201	4296	6497	SO:0001583	missense			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.1399T>C	4.37:g.166418730T>C	ENSP00000386104:p.Trp467Arg	NA	A8K4N1|B3KR42|D3DP33|Q9UIU9	37	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.280597	0.59758	.	.	ENSG00000109472	ENST00000402744	T	0.12774	2.65	6.08	6.08	0.98989	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.01829	-1.1265	10	0.87932	D	0	-11.282	16.643	0.85134	0.0:0.0:0.0:1.0	.	467	P16870	CBPE_HUMAN	R	467	ENSP00000386104:W467R	ENSP00000386104:W467R	W	+	1	0	CPE	166638180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.330000	0.79161	0.533000	0.62120	TGG	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317094.2		+	ENST00000402744.4	Missense_Mutation	SNP	4 : 166418730 - 166418730 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	349	15
CPSF2	53981	broad.mit.edu	37	14	92628035	92628035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:92628035C>T	ENST00000298875.4	+	16	2581	c.2296C>T	c.(2296-2298)Caa>Taa	p.Q766*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	766					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)		CTGCCTTTGTCAAGATTTTTA	0.318		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													80	77	78			NA	NA	14		NA											NA				92628035		2203	4298	6501	SO:0001587	stop_gained			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.2296C>T	14.37:g.92628035C>T	ENSP00000298875:p.Gln766*	NA	B3KME1|Q6NSJ1|Q9H3W7	37	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	C	40	8.417780	0.98803	.	.	ENSG00000165934	ENST00000298875	.	.	.	5.7	5.7	0.88788	.	0.136439	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	14.6844	0.69040	0.0:0.7349:0.265:0.0	.	.	.	.	X	766	.	ENSP00000298875:Q766X	Q	+	1	0	CPSF2	91697788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.426000	0.52778	2.683000	0.91414	0.655000	0.94253	CAA	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412123.1		+	ENST00000298875.4	Nonsense_Mutation	SNP	14 : 92628035 - 92628035 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	391	44
CTBP2	1488	broad.mit.edu	37	10	126715805	126715805	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:126715805T>C	ENST00000309035.6	-	1	654	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_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)		CTGCCGCCCCTGAGGGATCAT	0.652		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	10		NA											NA				126715805		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.524A>G	10.37:g.126715805T>C	ENSP00000311825:p.Gln175Arg	NA	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	37	CCDS7644.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.182870	0.38511	.	.	ENSG00000175029	ENST00000309035	D	0.82711	-1.64	4.09	-8.18	0.01053	.	3.261290	0.00824	N	0.001618	T	0.75347	0.3837	.	.	.	0.09310	N	0.999992	B	0.23990	0.095	B	0.18871	0.023	T	0.63875	-0.6538	9	0.62326	D	0.03	.	13.6701	0.62420	0.1013:0.0:0.6613:0.2373	.	175	P56545-2	.	R	175	ENSP00000311825:Q175R	ENSP00000311825:Q175R	Q	-	2	0	CTBP2	126705795	0.017000	0.18338	0.000000	0.03702	0.935000	0.57460	0.349000	0.20055	-1.880000	0.01125	0.533000	0.62120	CAG	CTBP2-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050905.1		-	ENST00000309035.6	Missense_Mutation	SNP	10 : 126715805 - 126715805 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	293	82
CTSF	8722	broad.mit.edu	37	11	66333389	66333389	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:66333389C>A	ENST00000310325.5	-	7	986	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	293					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGCAGGAGCCACACATGCCC	0.622		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	11		NA											NA				66333389		2200	4295	6495	SO:0001583	missense			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080	8722	8722		Cathepsins	2531	protein-coding gene	gene with protein product		603539			NA	9822672, 10318784	Standard	NM_003793	NM_003793	NA	Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.877G>T	11.37:g.66333389C>A	ENSP00000310832:p.Gly293Cys	NA	B2R964|O95240|Q9NSU4|Q9UKQ5	37	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.870856|4.870856	0.91587|0.91587	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000310325|ENST00000524994	D|.	0.93659|.	-3.26|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Peptidase C1A, papain C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90957|0.90957	0.7157|0.7157	H|H	0.99058|0.99058	4.415|4.415	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94151|0.94151	0.7405|0.7405	10|5	0.87932|.	D|.	0|.	.|.	17.339|17.339	0.87291|0.87291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	293|.	Q9UBX1|.	CATF_HUMAN|.	C|L	293|140	ENSP00000310832:G293C|.	ENSP00000310832:G293C|.	G|W	-|-	1|2	0|0	CTSF|CTSF	66089965|66089965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	4.866000|4.866000	0.63005|0.63005	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GGC|TGG	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393047.1		-	ENST00000310325.5	Missense_Mutation	SNP	11 : 66333389 - 66333389 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	265	79
CYLD	1540	broad.mit.edu	37	16	50813757	50813757	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:50813757G>A	ENST00000427738.3	+	8	1525	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	CYLD_ENST00000569418.1_Silent_p.L437L|CYLD_ENST00000540145.1_Silent_p.L440L|CYLD_ENST00000564326.1_Silent_p.L437L|CYLD_ENST00000398568.2_Silent_p.L437L|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000311559.9_Silent_p.L440L|CYLD_ENST00000566206.1_Silent_p.L437L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	440	Interaction with TRAF2.|Interaction with TRIP.				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)				CACTTTCTCTGTCAGCCCAGT	0.507		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													134	131	132			NA	NA	16		NA											NA				50813757		1985	4173	6158	SO:0001819	synonymous_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.1320G>A	16.37:g.50813757G>A		NA	O94934|Q7L3N6|Q96EH0|Q9NZX9	37	CCDS45482.1																																																																																			CYLD-010	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422998.2		+	ENST00000427738.3	Silent	SNP	16 : 50813757 - 50813757 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	602	85
DHX40	79665	broad.mit.edu	37	17	57650476	57650476	+	Splice_Site	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:57650476G>A	ENST00000251241.4	+	4	573		c.e4-1		DHX40_ENST00000451169.2_Splice_Site|DHX40_ENST00000425628.3_Splice_Site	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	NA							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)					TTGAACATTAGGAGACAGCAA	0.368		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	17		NA											NA				57650476		2203	4296	6499	SO:0001630	splice_region_variant			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.427-1G>A	17.37:g.57650476G>A		NA	B3KTJ5|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	37	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491702	0.84962	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX40	55005258	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.301000	0.96167	2.882000	0.98803	0.655000	0.94253	.	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446095.1	Intron	+	ENST00000251241.4	Splice_Site	SNP	17 : 57650476 - 57650476 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	1066	220
DPP6	1804	broad.mit.edu	37	7	154596629	154596629	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:154596629A>G	ENST00000404039.1	+	15	1897	c.1310A>G	c.(1309-1311)tAc>tGc	p.Y437C	DPP6_ENST00000427557.1_Missense_Mutation_p.Y394C|DPP6_ENST00000332007.3_Missense_Mutation_p.Y439C|DPP6_ENST00000377770.3_Missense_Mutation_p.Y501C	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	501					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)			CTTTGCAGCTACTTCCTGAGC	0.577		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													84	92	89			NA	NA	7		NA											NA				154596629		2073	4211	6284	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.1310A>G	7.37:g.154596629A>G	ENSP00000385578:p.Tyr437Cys	NA		37		.	.	.	.	.	.	.	.	.	.	A	21.1	4.092541	0.76756	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.04	5.04	0.67666	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.056551	0.64402	D	0.000001	T	0.73560	0.3602	H	0.95780	3.72	0.58432	D	0.999999	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	0.81904	-0.0719	10	0.87932	D	0	-22.1949	13.0759	0.59087	1.0:0.0:0.0:0.0	.	394;439;501;437	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	C	437;501;439;394	ENSP00000385578:Y437C;ENSP00000367001:Y501C;ENSP00000328226:Y439C;ENSP00000397303:Y394C	ENSP00000328226:Y439C	Y	+	2	0	DPP6	154227562	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.947000	0.75959	2.018000	0.59344	0.529000	0.55759	TAC	DPP6-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000322930.1		+	ENST00000404039.1	Missense_Mutation	SNP	7 : 154596629 - 154596629 G PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	53	14
DPY19L1	23333	broad.mit.edu	37	7	35051048	35051048	+	Silent	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:35051048A>G	ENST00000310974.4	-	5	489	c.345T>C	c.(343-345)agT>agC	p.S115S		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	115						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCGGTACCAACTGGCCAAAA	0.323		NA											a	4	0.0018	NA	0.01	2184	NA	0.9993	,	,	NA	4e-04	0.0026	NA	NA	0.0021	0.8504	LOWCOV	NA	NA	0.001	SNP								NA				0													56	50	52			NA	NA	7		NA											NA				35051048		1802	4070	5872	SO:0001819	synonymous_variant			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852	23333	23333			22205	protein-coding gene	gene with protein product		613892			NA		Standard		NM_015283	NA	Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.345T>C	7.37:g.35051048A>G		NA	O94954|Q4G151	37	CCDS43567.1																																																																																			DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337506.1		-	ENST00000310974.4	Silent	SNP	7 : 35051048 - 35051048 G PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	361	25
DPY19L1	23333	broad.mit.edu	37	7	35051041	35051041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:35051041G>A	ENST00000310974.4	-	5	496	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	118						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTATAAATCCGGTACCAACTG	0.338		NA											G	3	0.0014	NA	0.0028	2184	NA	0.9995	,	,	NA	3e-04	0.0026	NA	NA	0.0013	0.8617	LOWCOV	NA	NA	7e-04	SNP								NA				0													62	56	58			NA	NA	7		NA											NA				35051041		1808	4071	5879	SO:0001583	missense			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852	23333	23333			22205	protein-coding gene	gene with protein product		613892			NA		Standard		NM_015283	NA	Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.352C>T	7.37:g.35051041G>A	ENSP00000308695:p.Arg118Trp	NA	O94954|Q4G151	37	CCDS43567.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	19.60	3.858108	0.71834	.	.	ENSG00000173852	ENST00000310974	T	0.59906	0.23	5.39	-1.38	0.09027	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.86953	2.85	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.73084	-0.4094	10	0.72032	D	0.01	-13.9762	10.4745	0.44657	0.0641:0.0:0.3509:0.585	.	118	Q2PZI1	D19L1_HUMAN	W	118	ENSP00000308695:R118W	ENSP00000308695:R118W	R	-	1	2	DPY19L1	35017566	1.000000	0.71417	0.831000	0.32960	0.937000	0.57800	0.946000	0.29069	-0.646000	0.05452	-0.128000	0.14901	CGG	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337506.1		-	ENST00000310974.4	Missense_Mutation	SNP	7 : 35051041 - 35051041 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	365	18
DRD2	1813	broad.mit.edu	37	11	113281640	113281640	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:113281640C>T	ENST00000362072.3	-	8	1485	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	DRD2_ENST00000542968.1_Missense_Mutation_p.V381M|DRD2_ENST00000355319.2_Missense_Mutation_p.V383M|DRD2_ENST00000538967.1_Missense_Mutation_p.V383M|DRD2_ENST00000544518.1_Missense_Mutation_p.V380M|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Missense_Mutation_p.V352M	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	381					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)	ATGATGAACACGCCTGGGGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	90	101			NA	NA	11		NA											NA				113281640		2201	4296	6497	SO:0001583	missense			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.1141G>A	11.37:g.113281640C>T	ENSP00000354859:p.Val381Met	NA	Q9NZR3|Q9UPA9	37	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250906	0.80135	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.66	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.111037	0.64402	D	0.000009	D	0.87947	0.6306	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.917;0.979	D	0.90416	0.4413	10	0.87932	D	0	.	15.7176	0.77681	0.1378:0.8622:0.0:0.0	.	380;352;381	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	M	383;352;381;380;381;383	ENSP00000347474:V383M;ENSP00000278597:V352M;ENSP00000354859:V381M;ENSP00000441068:V380M;ENSP00000442172:V381M;ENSP00000438215:V383M	ENSP00000278597:V352M	V	-	1	0	DRD2	112786850	1.000000	0.71417	0.998000	0.56505	0.554000	0.35429	6.075000	0.71261	1.321000	0.45227	0.655000	0.94253	GTG	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395834.1		-	ENST00000362072.3	Missense_Mutation	SNP	11 : 113281640 - 113281640 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	311	36
EFEMP2	30008	broad.mit.edu	37	11	65638816	65638816	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:65638816G>T	ENST00000528176.1	-	4	246	c.179C>A	c.(178-180)aCc>aAc	p.T60N	EFEMP2_ENST00000307998.6_Missense_Mutation_p.T60N			O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	60	EGF-like 1; atypical.				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)		CTCAGGGATGGTCAGACACTC	0.642		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	11		NA											NA				65638816		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.179C>A	11.37:g.65638816G>T	ENSP00000434151:p.Thr60Asn	NA	A8K7R4|B3KM31|B3KQT1|O75967	37		.	.	.	.	.	.	.	.	.	.	G	19.36	3.812097	0.70797	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.93	4.93	0.64822	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.40640	N	0.001054	D	0.94666	0.8280	M	0.69358	2.11	0.52501	D	0.999956	D;D	0.69078	0.997;0.997	D;P	0.80764	0.994;0.898	D	0.92380	0.5912	10	0.16896	T	0.51	.	15.6604	0.77182	0.0:0.0:1.0:0.0	.	60;60	E9PRU1;O95967	.;FBLN4_HUMAN	N	60	ENSP00000434151:T60N;ENSP00000309953:T60N;ENSP00000435419:T60N;ENSP00000435963:T60N	ENSP00000309953:T60N	T	-	2	0	EFEMP2	65395392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.893000	0.63199	2.553000	0.86117	0.655000	0.94253	ACC	EFEMP2-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000391858.1		-	ENST00000528176.1	Missense_Mutation	SNP	11 : 65638816 - 65638816 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	658	80
ESCO2	157570	broad.mit.edu	37	8	27634027	27634027	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:27634027C>T	ENST00000305188.8	+	3	440	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	68					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)		AATAAATAGACTGCCATCAGC	0.368		NA							SC Phocomelia syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	59			NA	NA	8		NA											NA				27634027		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.202C>T	8.37:g.27634027C>T		NA	B3KW59	37	CCDS34872.1																																																																																			ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376276.1		+	ENST00000305188.8	Silent	SNP	8 : 27634027 - 27634027 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	284	77
FKBP6	8468	broad.mit.edu	37	7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	rs3950376		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	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)	lung(1)											131	112	118			NA	NA	7		NA											NA				72744195		2203	4300	6503	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.308G>A	7.37:g.72744195G>A	ENSP00000252037:p.Arg103Gln	NA	Q9UDS0	37	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538247	0.45176	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.229081	0.39985	N	0.001216	T	0.64702	0.2622	N	0.12502	0.225	0.36640	D	0.876817	B;B	0.33073	0.396;0.023	B;B	0.16289	0.009;0.015	T	0.66512	-0.5905	10	0.19147	T	0.46	-20.1574	7.1478	0.25593	0.1919:0.0:0.8081:0.0	rs3950376	98;103	O75344-2;O75344	.;FKBP6_HUMAN	Q	98;98;73;103	ENSP00000416277:R98Q;ENSP00000402360:R98Q;ENSP00000394952:R73Q;ENSP00000252037:R103Q	ENSP00000252037:R103Q	R	+	2	0	FKBP6	72382131	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.794000	0.47853	2.101000	0.63845	0.485000	0.47835	CGG	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318723.1		+	ENST00000252037.4	Missense_Mutation	SNP	7 : 72744195 - 72744195 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	225	6
FKBP6	8468	broad.mit.edu	37	7	72744255	72744255	+	Missense_Mutation	SNP	G	G	C	rs1064197		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:72744255G>C	ENST00000252037.4	+	4	437	c.368G>C	c.(367-369)tGc>tCc	p.C123S	FKBP6_ENST00000431982.2_Missense_Mutation_p.C118S|FKBP6_ENST00000413573.2_Missense_Mutation_p.C93S	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	123	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.C123S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACGCTGGGCTGCCCTCCCTTG	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)											134	119	124			NA	NA	7		NA											NA				72744255		2203	4300	6503	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.368G>C	7.37:g.72744255G>C	ENSP00000252037:p.Cys123Ser	NA	Q9UDS0	37	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152779	0.57259	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;D;T	0.85088	1.06;1.06;-1.94;1.06	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	N	0.12663	0.25	0.80722	D	1	P;P	0.35363	0.497;0.49	B;B	0.44315	0.116;0.446	T	0.73477	-0.3970	10	0.11182	T	0.66	-17.6513	15.8937	0.79322	0.0:0.0:1.0:0.0	rs1064197;rs2883080	118;123	O75344-2;O75344	.;FKBP6_HUMAN	S	118;118;93;123	ENSP00000416277:C118S;ENSP00000402360:C118S;ENSP00000394952:C93S;ENSP00000252037:C123S	ENSP00000252037:C123S	C	+	2	0	FKBP6	72382191	1.000000	0.71417	0.993000	0.49108	0.631000	0.37964	9.308000	0.96247	2.101000	0.63845	0.485000	0.47835	TGC	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318723.1		+	ENST00000252037.4	Missense_Mutation	SNP	7 : 72744255 - 72744255 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	279	7
FN1	2335	broad.mit.edu	37	2	216288871	216288871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:216288871G>A	ENST00000354785.4	-	8	1583	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	FN1_ENST00000356005.4_Missense_Mutation_p.T405I|FN1_ENST00000359671.1_Missense_Mutation_p.T405I|FN1_ENST00000323926.6_Missense_Mutation_p.T405I|FN1_ENST00000346544.3_Missense_Mutation_p.T405I|FN1_ENST00000432072.2_Missense_Mutation_p.T405I|FN1_ENST00000357009.2_Missense_Mutation_p.T405I|FN1_ENST00000421182.1_Missense_Mutation_p.T405I|FN1_ENST00000426059.1_Missense_Mutation_p.T405I|FN1_ENST00000345488.5_Missense_Mutation_p.T405I|FN1_ENST00000357867.4_Missense_Mutation_p.T405I|FN1_ENST00000446046.1_Missense_Mutation_p.T405I|FN1_ENST00000443816.1_Missense_Mutation_p.T405I|FN1_ENST00000336916.4_Missense_Mutation_p.T405I			P02751	FINC_HUMAN	fibronectin 1	405	Collagen-binding.				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)	ACACTCACCAGTGTGGTCTGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	106	113			NA	NA	2		NA											NA				216288871		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.1214C>T	2.37:g.216288871G>A	ENSP00000346839:p.Thr405Ile	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	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068483	0.76301	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;2.14;2.32;0.86;2.38;2.02;2.36;2.02;2.31;2.06;1.55;0.85;1.45;1.47	5.97	5.97	0.96955	.	0.537042	0.19271	N	0.118405	T	0.51822	0.1697	L	0.29908	0.895	0.36489	D	0.868311	B;P;B;D;B;B;P;P;B;B;P	0.60575	0.073;0.839;0.198;0.988;0.265;0.173;0.511;0.843;0.265;0.265;0.715	B;P;B;P;B;B;B;B;B;B;B	0.60609	0.083;0.452;0.135;0.877;0.13;0.061;0.239;0.128;0.13;0.13;0.39	T	0.59156	-0.7507	10	0.66056	D	0.02	.	10.327	0.43798	0.0:0.1207:0.6964:0.1828	.	405;405;405;405;405;405;405;405;405;405;405	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	I	405	ENSP00000394423:T405I;ENSP00000323534:T405I;ENSP00000338200:T405I;ENSP00000350534:T405I;ENSP00000346839:T405I;ENSP00000352696:T405I;ENSP00000265312:T405I;ENSP00000273049:T405I;ENSP00000349509:T405I;ENSP00000410422:T405I;ENSP00000415018:T405I;ENSP00000399538:T405I;ENSP00000348285:T405I;ENSP00000398907:T405I	ENSP00000265313:T405I	T	-	2	0	FN1	215997116	0.995000	0.38212	0.985000	0.45067	0.985000	0.73830	2.437000	0.44828	2.836000	0.97738	0.655000	0.94253	ACT	FN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256667.2		-	ENST00000354785.4	Missense_Mutation	SNP	2 : 216288871 - 216288871 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	783	155
FRG1	2483	broad.mit.edu	37	4	190878627	190878627	+	Silent	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:190878627T>C	ENST00000226798.4	+	6	729	c.507T>C	c.(505-507)agT>agC	p.S169S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	169					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAGCAAAAAGTAAAACAGCAG	0.358		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	4		NA											NA				190878627		2184	4282	6466	SO:0001819	synonymous_variant			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536	2483	2483			3954	protein-coding gene	gene with protein product		601278			NA	8733123	Standard	NM_004477	XM_005262880	NA	Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.507T>C	4.37:g.190878627T>C		NA	A8K775	37	CCDS34121.1																																																																																			FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359622.4		+	ENST00000226798.4	Silent	SNP	4 : 190878627 - 190878627 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	352	19
GABRA6	2559	broad.mit.edu	37	5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Intron			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	84					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTTTTTTCCGCCAGACCTG	0.408		NA								TCGA Ovarian(5;0.080)				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				161115979		2203	4299	6502	SO:0001583	missense				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863	2559	2559		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4080	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 6	137143			NA	8020978	Standard		NM_000811	NA	Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.250C>T	5.37:g.161115979C>T	ENSP00000274545:p.Arg84Cys	NA	A8K096|Q4VAV2	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915608	0.92178	.	.	ENSG00000145863	ENST00000274545;ENST00000517823	T;T	0.80566	-1.39;-1.39	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94213	0.7460	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	84	Q16445	GBRA6_HUMAN	C	84;31	ENSP00000274545:R84C;ENSP00000430212:R31C	ENSP00000274545:R84C	R	+	1	0	GABRA6	161048557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.843000	0.69424	2.824000	0.97209	0.655000	0.94253	CGC	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252707.2		+	ENST00000274545.5	Missense_Mutation	SNP	5 : 161115979 - 161115979 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	677	157
GABRB1	2560	broad.mit.edu	37	4	47322169	47322169	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:47322169A>T	ENST00000295454.3	+	5	779	c.487A>T	c.(487-489)Atg>Ttg	p.M163L	GABRB1_ENST00000538619.1_Missense_Mutation_p.M93L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	163					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)	TGCATGTATGATGGATCTTCG	0.423		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	4		NA											NA				47322169		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.487A>T	4.37:g.47322169A>T	ENSP00000295454:p.Met163Leu	NA	B2R6U7|Q16166|Q8TBK3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	A	31	5.067721	0.93950	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.78707	-1.2;-1.2	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.196139	0.44285	D	0.000466	T	0.81394	0.4813	L	0.43554	1.36	0.58432	D	0.999998	D;P	0.57257	0.979;0.699	P;P	0.60345	0.873;0.833	T	0.82839	-0.0259	10	0.62326	D	0.03	-26.9689	13.0442	0.58916	1.0:0.0:0.0:0.0	.	93;163	F5GXV5;P18505	.;GBRB1_HUMAN	L	163;93	ENSP00000295454:M163L;ENSP00000440330:M93L	ENSP00000295454:M163L	M	+	1	0	GABRB1	47016926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.665000	0.91144	2.178000	0.69098	0.477000	0.44152	ATG	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216896.1		+	ENST00000295454.3	Missense_Mutation	SNP	4 : 47322169 - 47322169 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	361	22
GLI3	2737	broad.mit.edu	37	7	42079807	42079807	+	Silent	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:42079807G>T	ENST00000395925.3	-	7	942	c.858C>A	c.(856-858)gcC>gcA	p.A286A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	286					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						GGCTCGGCCTGGCTGACAGCC	0.468		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													144	132	136			NA	NA	7		NA											NA				42079807		2203	4300	6503	SO:0001819	synonymous_variant	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.858C>A	7.37:g.42079807G>T		NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1																																																																																			GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Silent	SNP	7 : 42079807 - 42079807 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	563	58
GLRX3	10539	broad.mit.edu	37	10	131959074	131959074	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:131959074C>T	ENST00000368644.1	+	4	313	c.291C>T	c.(289-291)atC>atT	p.I97I	GLRX3_ENST00000331244.5_Silent_p.I97I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	97	Thioredoxin.				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)		CTCAGAAAATCGACCGATTAG	0.378		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	10		NA											NA				131959074		2203	4300	6503	SO:0001819	synonymous_variant			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.291C>T	10.37:g.131959074C>T		NA	B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	37	CCDS7661.1																																																																																			GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051021.1		+	ENST00000368644.1	Silent	SNP	10 : 131959074 - 131959074 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	330	108
GTF3C1	2975	broad.mit.edu	37	16	27544625	27544625	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:27544625A>C	ENST00000356183.4	-	5	851	c.836T>G	c.(835-837)cTg>cGg	p.L279R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L279R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	279						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						CTCTTCCCTCAGCTTTCCCAG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	110	115			NA	NA	16		NA											NA				27544625		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.836T>G	16.37:g.27544625A>C	ENSP00000348510:p.Leu279Arg	NA	B2RP21|Q12838|Q6DKN9|Q9Y4W9	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454282	0.84209	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.28069	1.63	5.96	5.96	0.96718	.	0.082944	0.49305	D	0.000153	T	0.45296	0.1335	L	0.29908	0.895	0.48632	D	0.999681	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.981	T	0.43956	-0.9359	10	0.87932	D	0	-3.0653	16.1077	0.81236	1.0:0.0:0.0:0.0	.	279;279	Q12789;Q12789-3	TF3C1_HUMAN;.	R	279;277	ENSP00000348510:L279R	ENSP00000348510:L279R	L	-	2	0	GTF3C1	27452126	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.664000	0.83830	2.285000	0.76669	0.528000	0.53228	CTG	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433856.1		-	ENST00000356183.4	Missense_Mutation	SNP	16 : 27544625 - 27544625 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	384	102
IGJ	3512	broad.mit.edu	37	4	71522118	71522118	+	Silent	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:71522118G>T	ENST00000254801.4	-	4	577	c.408C>A	c.(406-408)gtC>gtA	p.V136V	IGJ_ENST00000543780.1_Silent_p.V152V|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	136					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			ATACGAGTGGGACCACAGCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	148	160			NA	NA	4		NA											NA				71522118		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.408C>A	4.37:g.71522118G>T		NA		37	CCDS3545.1																																																																																			IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252160.1		-	ENST00000254801.4	Silent	SNP	4 : 71522118 - 71522118 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	324	79
IL20RA	53832	broad.mit.edu	37	6	137323435	137323435	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:137323435C>T	ENST00000316649.5	-	7	1157	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	IL20RA_ENST00000541547.1_Missense_Mutation_p.V259M|IL20RA_ENST00000367748.1_Missense_Mutation_p.V197M	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	308						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)		AAGTTAATCACGATTTTTTCA	0.318		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	6		NA											NA				137323435		2203	4296	6499	SO:0001583	missense			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.922G>A	6.37:g.137323435C>T	ENSP00000314976:p.Val308Met	NA	Q14CW2|Q6UWA9|Q96SH8	37	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473496	0.26423	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.62364	0.29;1.74;0.03	5.79	-1.79	0.07932	.	0.528864	0.18758	N	0.131980	T	0.26122	0.0637	L	0.56769	1.78	0.09310	N	1	P;P	0.40230	0.708;0.669	B;B	0.28305	0.088;0.046	T	0.15292	-1.0442	10	0.46703	T	0.11	-2.8981	6.3867	0.21563	0.0:0.478:0.1229:0.3991	.	197;308	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	M	308;197;259	ENSP00000314976:V308M;ENSP00000356722:V197M;ENSP00000437843:V259M	ENSP00000314976:V308M	V	-	1	0	IL20RA	137365128	0.845000	0.29573	0.013000	0.15412	0.940000	0.58332	0.935000	0.28924	-0.331000	0.08501	-0.777000	0.03380	GTG	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042393.1		-	ENST00000316649.5	Missense_Mutation	SNP	6 : 137323435 - 137323435 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	287	46
ING1	3621	broad.mit.edu	37	13	111368263	111368263	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:111368263A>G	ENST00000375774.3	+	1	935	c.473A>G	c.(472-474)gAc>gGc	p.D158G	ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	158					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)			TGCAGTTCGGACCGCCTCCCG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	21	18			NA	NA	13		NA											NA				111368263		1765	3634	5399	SO:0001583	missense				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	ENST00000375774.3:c.473A>G	13.37:g.111368263A>G	ENSP00000364929:p.Asp158Gly	NA	O00532|O43658|Q5T9G8|Q5T9G9|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	37	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	A	0.643	-0.812678	0.02798	.	.	ENSG00000153487	ENST00000375774	T	0.55930	0.49	3.31	-2.11	0.07187	.	.	.	.	.	T	0.24967	0.0606	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13019	-1.0525	9	0.31617	T	0.26	.	3.314	0.07026	0.4814:0.0:0.3271:0.1915	.	158	Q9UK53	ING1_HUMAN	G	158	ENSP00000364929:D158G	ENSP00000364929:D158G	D	+	2	0	ING1	110166264	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-3.845000	0.00352	-0.273000	0.09246	-0.252000	0.11476	GAC	ING1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045770.2		+	ENST00000375774.3	Missense_Mutation	SNP	13 : 111368263 - 111368263 G PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	233	68
INHBA	3624	broad.mit.edu	37	7	41729807	41729807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:41729807C>T	ENST00000242208.4	-	3	968	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.R241Q	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	241					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGGCAATCCGAACGTCCAG	0.572		NA								TSP Lung(11;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	46	47			NA	NA	7		NA											NA				41729807		2203	4300	6503	SO:0001583	missense				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641	3624	3624		Endogenous ligands	6066	protein-coding gene	gene with protein product		147290	inhibin, beta A (activin A, activin AB alpha polypeptide)		NA	3345731	Standard		NM_002192	NA	Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.722G>A	7.37:g.41729807C>T	ENSP00000242208:p.Arg241Gln	NA	Q14599	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	36	5.853696	0.97030	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62788	0.0;0.0	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.431115	0.26859	N	0.022126	T	0.73118	0.3546	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.67352	-0.5692	10	0.33141	T	0.24	-20.8404	20.6208	0.99490	0.0:1.0:0.0:0.0	.	241	P08476	INHBA_HUMAN	Q	241	ENSP00000242208:R241Q;ENSP00000397197:R241Q	ENSP00000242208:R241Q	R	-	2	0	INHBA	41696332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.915000	0.63355	2.882000	0.98803	0.655000	0.94253	CGG	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250793.1		-	ENST00000242208.4	Missense_Mutation	SNP	7 : 41729807 - 41729807 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	265	49
IRS4	8471	broad.mit.edu	37	X	107977753	107977753	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:107977753T>A	ENST00000372129.2	-	1	1898	c.1822A>T	c.(1822-1824)Aaa>Taa	p.K608*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	608						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						TTCAGAGATTTTCCACGTTCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	204	205			NA	NA	X		NA											NA				107977753		2203	4300	6503	SO:0001587	stop_gained			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.1822A>T	X.37:g.107977753T>A	ENSP00000361202:p.Lys608*	NA		37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	38	6.696633	0.97772	.	.	ENSG00000133124	ENST00000372129	.	.	.	4.77	4.77	0.60923	.	0.116050	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1376	13.1593	0.59535	0.0:0.0:0.0:1.0	.	.	.	.	X	608	.	ENSP00000361202:K608X	K	-	1	0	IRS4	107864409	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.745000	0.55119	1.757000	0.51966	0.417000	0.27973	AAA	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057879.1		-	ENST00000372129.2	Nonsense_Mutation	SNP	X : 107977753 - 107977753 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	525	438
KCNC4	3749	broad.mit.edu	37	1	110754459	110754459	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:110754459G>A	ENST00000413138.3	+	1	346	c.338G>A	c.(337-339)gGc>gAc	p.G113D	KCNC4_ENST00000369787.3_Missense_Mutation_p.G113D|KCNC4_ENST00000438661.2_Missense_Mutation_p.G113D			Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	113					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)		TACCGCACCGGCAAGCTGCAC	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	1		NA											NA				110754459		2203	4299	6502	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.338G>A	1.37:g.110754459G>A	ENSP00000388029:p.Gly113Asp	NA	Q3MIM4|Q5TBI6	37		.	.	.	.	.	.	.	.	.	.	G	25.4	4.635059	0.87760	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	T;T;T	0.79940	-1.32;-1.32;-1.32	4.15	4.15	0.48705	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.057921	0.64402	D	0.000002	D	0.90954	0.7156	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.93638	0.6962	10	0.87932	D	0	.	16.0484	0.80735	0.0:0.0:1.0:0.0	.	113;113;113	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	D	113	ENSP00000358802:G113D;ENSP00000388029:G113D;ENSP00000393655:G113D	ENSP00000358802:G113D	G	+	2	0	KCNC4	110555982	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.641000	0.98458	1.871000	0.54225	0.561000	0.74099	GGC	KCNC4-006	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390341.1		+	ENST00000413138.3	Missense_Mutation	SNP	1 : 110754459 - 110754459 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	214	5
KLHL28	54813	broad.mit.edu	37	14	45398354	45398354	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:45398354G>A	ENST00000355081.2	-	5	1838	c.1635C>T	c.(1633-1635)gtC>gtT	p.V545V	KLHL28_ENST00000396128.4_Silent_p.V531V			Q9NXS3	KLH28_HUMAN	kelch-like family member 28	531										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGACCACCGACGACATAAA	0.423		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				45398354		2203	4300	6503	SO:0001819	synonymous_variant			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454	54813	54813		Kelch-like, BTB/POZ domain containing	19741	protein-coding gene	gene with protein product			BTB (POZ) domain containing 5, kelch-like 28 (Drosophila)	BTBD5	NA		Standard		NM_017658	NA	Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000355081.2:c.1635C>T	14.37:g.45398354G>A		NA	Q0VAL5	37																																																																																				KLHL28-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000276789.2		-	ENST00000355081.2	Silent	SNP	14 : 45398354 - 45398354 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	659	96
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	129	30
KRT38	8687	broad.mit.edu	37	17	39596736	39596736	+	Silent	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:39596736G>A	ENST00000246646.3	-	1	437	c.438C>T	c.(436-438)acC>acT	p.T146T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	146	Linker 1.|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)				CGGGGCACACGGTGGACTCGT	0.612		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	17		NA											NA				39596736		2203	4300	6503	SO:0001819	synonymous_variant			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.438C>T	17.37:g.39596736G>A		NA	A2RRM5|Q6A164	37	CCDS11392.1																																																																																			KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257307.2		-	ENST00000246646.3	Silent	SNP	17 : 39596736 - 39596736 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	612	143
LRFN5	145581	broad.mit.edu	37	14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:42360832G>A	ENST00000298119.4	+	4	2954	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	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	589						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)		GCCCCAGTCCGTGTCCAAACA	0.463		NA								HNSCC(30;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	99	105			NA	NA	14		NA											NA				42360832		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.1765G>A	14.37:g.42360832G>A	ENSP00000298119:p.Val589Met	NA	B3KU78|Q86XL2	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	3.589	-0.084060	0.07097	.	.	ENSG00000165379	ENST00000298119	T	0.46819	0.86	5.95	-8.33	0.00992	.	0.719510	0.12218	N	0.488691	T	0.15435	0.0372	N	0.08118	0	0.33496	D	0.589311	P	0.37370	0.592	B	0.22880	0.042	T	0.20672	-1.0268	10	0.42905	T	0.14	.	7.3406	0.26635	0.2434:0.0993:0.5598:0.0975	.	589	Q96NI6	LRFN5_HUMAN	M	589	ENSP00000298119:V589M	ENSP00000298119:V589M	V	+	1	0	LRFN5	41430582	0.000000	0.05858	0.103000	0.21229	0.809000	0.45718	-0.726000	0.04936	-1.450000	0.01936	-0.157000	0.13467	GTG	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276786.1		+	ENST00000298119.4	Missense_Mutation	SNP	14 : 42360832 - 42360832 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	346	83
LTB4R	1241	broad.mit.edu	37	14	24785420	24785420	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:24785420C>T	ENST00000396789.4	+	2	2288	c.563C>T	c.(562-564)aCg>aTg	p.T188M	LTB4R_ENST00000345363.3_Missense_Mutation_p.T188M|LTB4R_ENST00000396782.2_Missense_Mutation_p.T188M	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	188					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GAGGCTGTCACGGGCTTCCTG	0.667		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	14		NA											NA				24785420		2203	4300	6503	SO:0001583	missense			X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903	1241	1241		GPCR / Class A : Leukotriene receptors	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1	NA	8921391, 8702478	Standard		NM_181657	NA	Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.563C>T	14.37:g.24785420C>T	ENSP00000380008:p.Thr188Met	NA	Q13305|Q53XV5|Q92641|Q9BSU5	37	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957500	0.53400	.	.	ENSG00000213903	ENST00000345363;ENST00000396789;ENST00000556141;ENST00000396782	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.204720	0.41938	U	0.000790	T	0.37073	0.0990	N	0.25332	0.735	0.35269	D	0.780254	D	0.61697	0.99	P	0.55011	0.766	T	0.41716	-0.9493	10	0.35671	T	0.21	.	10.7916	0.46436	0.0:0.9141:0.0:0.0859	.	188	Q15722	LT4R1_HUMAN	M	188;188;88;188	ENSP00000307445:T188M;ENSP00000380008:T188M;ENSP00000451929:T88M;ENSP00000380002:T188M	ENSP00000307445:T188M	T	+	2	0	LTB4R	23855260	0.004000	0.15560	0.997000	0.53966	0.955000	0.61496	1.769000	0.38522	2.709000	0.92574	0.655000	0.94253	ACG	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073198.4		+	ENST00000396789.4	Missense_Mutation	SNP	14 : 24785420 - 24785420 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	502	150
MATN4	8785	broad.mit.edu	37	20	43933094	43933094	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:43933094C>T	ENST00000372754.1	-	2	425	c.417G>A	c.(415-417)ccG>ccA	p.P139P	MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Silent_p.P139P|MATN4_ENST00000342716.4_Silent_p.P139P|MATN4_ENST00000353917.5_Silent_p.P139P|MATN4_ENST00000360607.6_Silent_p.P139P|MATN4_ENST00000537548.1_Silent_p.P139P			O95460	MATN4_HUMAN	matrilin 4	139	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)				CAGCGACACGCGGCACGCGCT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	8	8			NA	NA	20		NA											NA				43933094		2125	4135	6260	SO:0001819	synonymous_variant			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.417G>A	20.37:g.43933094C>T		NA	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	37																																																																																				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	Silent	SNP	20 : 43933094 - 43933094 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	105	36
MRGPRF	116535	broad.mit.edu	37	11	68773653	68773653	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:68773653G>A	ENST00000309099.6	-	3	507	c.125C>T	c.(124-126)cCg>cTg	p.P42L	MRGPRF_ENST00000441623.1_Missense_Mutation_p.P42L	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	42						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCCGGAGGCGGCAGCATCGC	0.632		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	11		NA											NA				68773653		2200	4294	6494	SO:0001583	missense			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935	116535	116535		GPCR / Class A : Orphans	24828	protein-coding gene	gene with protein product		607233	G protein-coupled receptor 168, G protein-coupled receptor 140	GPR168, GPR140	NA	12477932	Standard	NM_145015	NM_001098515	NA	Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.125C>T	11.37:g.68773653G>A	ENSP00000309782:p.Pro42Leu	NA	B3KV43|Q8NBK8	37	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332758	0.41297	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.05447	3.44;3.44	4.35	4.35	0.52113	.	0.000000	0.44483	D	0.000457	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	0.999993	D	0.69078	0.997	P	0.56088	0.791	T	0.36237	-0.9756	10	0.19590	T	0.45	-45.2304	12.2679	0.54689	0.0:0.0:1.0:0.0	.	42	Q96AM1	MRGRF_HUMAN	L	42	ENSP00000403660:P42L;ENSP00000309782:P42L	ENSP00000309782:P42L	P	-	2	0	MRGPRF	68530229	0.661000	0.27430	0.135000	0.22099	0.425000	0.31504	1.452000	0.35156	2.261000	0.74972	0.561000	0.74099	CCG	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396875.1		-	ENST00000309099.6	Missense_Mutation	SNP	11 : 68773653 - 68773653 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	290	74
MTMR3	8897	broad.mit.edu	37	22	30398961	30398961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:30398961G>A	ENST00000401950.2	+	9	992	c.650G>A	c.(649-651)cGc>cAc	p.R217H	MTMR3_ENST00000406629.1_Missense_Mutation_p.R217H|MTMR3_ENST00000333027.3_Missense_Mutation_p.R217H|MTMR3_ENST00000323630.5_Missense_Mutation_p.R81H|MTMR3_ENST00000351488.3_Missense_Mutation_p.R217H	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	217	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCCTGGAAGCGCATCCCTGCC	0.512		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	22		NA											NA				30398961		2203	4300	6503	SO:0001583	missense			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330	8897	8897		Zinc fingers, FYVE domain containing, Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7451	protein-coding gene	gene with protein product		603558			NA	8640223, 9736772	Standard	NM_021090	NM_153050	NA	Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.650G>A	22.37:g.30398961G>A	ENSP00000384651:p.Arg217His	NA	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	37	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494406	0.96339	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76	5.55	5.55	0.83447	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.95645	3.7	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	0.98871	1.0766	10	0.87932	D	0	.	18.5002	0.90878	0.0:0.0:1.0:0.0	.	217;217;217	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	H	217;217;81;217;217	ENSP00000384651:R217H;ENSP00000331649:R217H;ENSP00000318070:R81H;ENSP00000307271:R217H;ENSP00000384077:R217H	ENSP00000318070:R81H	R	+	2	0	MTMR3	28728961	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.397000	0.97276	2.624000	0.88883	0.467000	0.42956	CGC	MTMR3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322066.1		+	ENST00000401950.2	Missense_Mutation	SNP	22 : 30398961 - 30398961 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	315	6
MYH14	79784	broad.mit.edu	37	19	50812427	50812427	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:50812427C>T	ENST00000601313.1	+	42	5983	c.5953C>T	c.(5953-5955)Cgg>Tgg	p.R1985W	MYH14_ENST00000262269.8_Missense_Mutation_p.R1985W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1952W|MYH14_ENST00000440075.2_Missense_Mutation_p.R1985W|MYH14_ENST00000596571.1_Missense_Mutation_p.R1944W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1977W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1952W	NM_001145809.1	NP_001139281.1	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1944					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)		ACTGAGGAACCGGCTTCGGTA	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,TRP/ARG,TRP/ARG	0,4210		0,0,2105	97	97	97		5854,5953,5830	1.4	1	19		97	1,8473		0,1,4236	no	missense,missense,missense	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	101,101,101	0,1,6341	TT,TC,CC	NA	0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	1952/2004,1985/2037,1944/1996	50812427	1,12683	2105	4237	6342	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.5953C>T	19.37:g.50812427C>T	ENSP00000470298:p.Arg1985Trp	NA	B0I1S2|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	37	CCDS54295.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854163	0.51270	0.0	1.18E-4	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	3.69	1.35	0.21983	Myosin tail (1);	.	.	.	.	D	0.83482	0.5264	L	0.58510	1.815	0.30649	N	0.755608	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.968;0.987;0.978	T	0.78743	-0.2085	9	0.87932	D	0	.	9.3434	0.38093	0.5854:0.4146:0.0:0.0	.	1985;1944;1952	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1985;1977;1952;1728;1985	ENSP00000406273:R1985W;ENSP00000366169:R1977W;ENSP00000407879:R1952W;ENSP00000262269:R1985W	ENSP00000262269:R1985W	R	+	1	2	MYH14	55504239	0.000000	0.05858	1.000000	0.80357	0.770000	0.43624	-0.299000	0.08254	0.293000	0.22520	0.313000	0.20887	CGG	MYH14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464709.2		+	ENST00000601313.1	Missense_Mutation	SNP	19 : 50812427 - 50812427 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	424	53
MYH6	4624	broad.mit.edu	37	14	23869987	23869987	+	Silent	SNP	G	G	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:23869987G>C	ENST00000356287.3	-	12	1370	c.1341C>G	c.(1339-1341)acC>acG	p.T447T	MYH6_ENST00000405093.3_Silent_p.T447T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	447	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)		TGGTCTCCAGGGTGGCGTTGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	106	116			NA	NA	14		NA											NA				23869987		2203	4300	6503	SO:0001819	synonymous_variant			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.1341C>G	14.37:g.23869987G>C		NA	A2RTX1|Q13943|Q14906|Q14907	37	CCDS9600.1																																																																																			MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071796.3		-	ENST00000356287.3	Silent	SNP	14 : 23869987 - 23869987 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	462	65
MYO16	23026	broad.mit.edu	37	13	109661386	109661386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:109661386delT	ENST00000357550.2	+	21	2559	c.2518delT	c.(2518-2520)tttfs	p.F842fs	MYO16_ENST00000251041.5_Frame_Shift_Del_p.F842fs|MYO16_ENST00000457511.2_Frame_Shift_Del_p.F354fs|MYO16_ENST00000356711.2_Frame_Shift_Del_p.F842fs	NM_001198950.1	NP_001185879.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	842					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)			AGTTTTGGACTTTTTTTTCCA	0.353		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	13		NA											NA				109661386		2203	4300	6503	SO:0001589	frameshift_variant				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.2518delT	13.37:g.109661386delT	ENSP00000350160:p.Phe842fs	NA	A6H8Y0|A8MTX3|Q5VYX4|Q5VYX5|Q5VYX6|Q6ZS13|Q8N3C2|Q8N948	37	CCDS32008.1																																																																																			MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045746.1		+	ENST00000357550.2	Frame_Shift_Del	DEL	13 : 109661386 - 109661386 - PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	387	113
MYRF	745	broad.mit.edu	37	11	61549234	61549234	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:61549234G>A	ENST00000278836.5	+	22	3050	c.2954G>A	c.(2953-2955)cGc>cAc	p.R985H	MYRF_ENST00000265460.5_Missense_Mutation_p.R950H|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Missense_Mutation_p.R376H	NM_001127392.1	NP_001120864.1			myelin regulatory factor	NA											NA						GGCCGGGCCCGCCGAGGGGCC	0.687		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	11		NA											NA				61549234		2200	4289	6489	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.2954G>A	11.37:g.61549234G>A	ENSP00000278836:p.Arg985His	NA		37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692483	0.68271	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.34472	1.39;1.37;1.36	4.18	3.17	0.36434	.	0.248147	0.40554	N	0.001069	T	0.28665	0.0710	N	0.19112	0.55	0.80722	D	1	D;D;D	0.64830	0.99;0.994;0.99	P;P;P	0.50754	0.649;0.573;0.556	T	0.03863	-1.0997	10	0.72032	D	0.01	-30.166	6.972	0.24654	0.0:0.2891:0.5476:0.1634	.	376;950;985	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	H	985;950;376	ENSP00000278836:R985H;ENSP00000265460:R950H;ENSP00000374253:R376H	ENSP00000265460:R950H	R	+	2	0	C11orf9	61305810	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.889000	0.39718	2.273000	0.75805	0.561000	0.74099	CGC	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398519.2		+	ENST00000278836.5	Missense_Mutation	SNP	11 : 61549234 - 61549234 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	193	94
NBPF10	100132406	broad.mit.edu	37	1	145323670	145323670	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:145323670A>C	ENST00000369339.3	+	10	1293				NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.E1169D			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	NA										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAAGGACGAAGAAGAGGAAG	0.463		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			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425	100132406	100132406		neuroblastoma breakpoint family	31992	protein-coding gene	gene with protein product		614000			NA	16079250	Standard	NM_001039703	NM_001039703	NA	Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1040+12516A>C	1.37:g.145323670A>C		NA		37		.	.	.	.	.	.	.	.	.	.	.	2.408	-0.335916	0.05278	.	.	ENSG00000163386	ENST00000342960	T	0.03242	4.0	.	.	.	.	.	.	.	.	T	0.00440	0.0014	N	0.03608	-0.345	0.09310	N	1	.	.	.	.	.	.	T	0.43750	-0.9372	5	0.31617	T	0.26	.	.	.	.	.	.	.	.	D	1169	ENSP00000345684:E1169D	ENSP00000345684:E1169D	E	+	3	2	NBPF10	144035027	0.005000	0.15991	0.002000	0.10522	0.087000	0.18053	-0.908000	0.04063	-0.792000	0.04480	0.128000	0.15822	GAA	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NA	protein_coding	OTTHUMT00000038550.3		+	ENST00000369339.3	Intron	SNP	1 : 145323670 - 145323670 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	4193	122
NUAK1	9891	broad.mit.edu	37	12	106461627	106461627	+	Silent	SNP	G	G	A	rs143829749		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:106461627G>A	ENST00000261402.2	-	7	2318	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	313							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						AGTCACACACGCTGCTCTTAT	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	76	65	69		939	-3	0.8	12	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUAK1	NM_014840.2		0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154		313/662	106461627	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			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.939C>T	12.37:g.106461627G>A		NA	A7MD39|Q96KA8	37	CCDS31892.1																																																																																			NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405767.2		-	ENST00000261402.2	Silent	SNP	12 : 106461627 - 106461627 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	354	73
OR1C1	26188	broad.mit.edu	37	1	247920822	247920822	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:247920822T>C	ENST00000408896.2	-	1	1160	c.887A>G	c.(886-888)gAt>gGt	p.D296G		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	296					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)			CCTCTTCATATCCCTGTTCCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	135	138			NA	NA	1		NA											NA				247920822		1917	4142	6059	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.887A>G	1.37:g.247920822T>C	ENSP00000386138:p.Asp296Gly	NA	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	37	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	T	9.331	1.060439	0.19987	.	.	ENSG00000221888	ENST00000408896	T	0.39592	1.07	3.22	0.691	0.18045	.	.	.	.	.	T	0.59500	0.2198	M	0.70903	2.155	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.49854	-0.8895	9	0.87932	D	0	.	9.657	0.39932	0.0:0.0:0.3383:0.6617	.	296	Q15619	OR1C1_HUMAN	G	296	ENSP00000386138:D296G	ENSP00000386138:D296G	D	-	2	0	OR1C1	245987445	0.376000	0.25098	0.048000	0.18961	0.024000	0.10985	2.018000	0.40991	0.017000	0.15025	-1.419000	0.01111	GAT	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096855.1		-	ENST00000408896.2	Missense_Mutation	SNP	1 : 247920822 - 247920822 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	836	171
OSBPL1A	114876	broad.mit.edu	37	18	21745034	21745034	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:21745034C>T	ENST00000319481.3	-	27	2951	c.2745G>A	c.(2743-2745)aaG>aaA	p.K915K	OSBPL1A_ENST00000399443.3_Silent_p.K402K|OSBPL1A_ENST00000357041.4_Silent_p.K533K	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	915					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)					CGCACCTCGTCTTCCAGTCCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													245	223	230			NA	NA	18		NA											NA				21745034		2203	4300	6503	SO:0001819	synonymous_variant			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.2745G>A	18.37:g.21745034C>T		NA	Q9BZF5|Q9NW87	37	CCDS11884.1																																																																																			OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254902.1		-	ENST00000319481.3	Silent	SNP	18 : 21745034 - 21745034 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	1280	121
OSBPL1A	114876	broad.mit.edu	37	18	21745037	21745037	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:21745037C>A	ENST00000319481.3	-	27	2948	c.2742G>T	c.(2740-2742)tgG>tgT	p.W914C	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.W401C|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.W532C	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	914					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)					ACCTCGTCTTCCAGTCCTCTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													249	226	234			NA	NA	18		NA											NA				21745037		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.2742G>T	18.37:g.21745037C>A	ENSP00000320291:p.Trp914Cys	NA	Q9BZF5|Q9NW87	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290514	0.80914	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.41758	0.99;0.99;0.99	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86277	0.1665	10	0.87932	D	0	-11.1594	19.6244	0.95672	0.0:1.0:0.0:0.0	.	914	Q9BXW6	OSBL1_HUMAN	C	914;401;532	ENSP00000320291:W914C;ENSP00000382372:W401C;ENSP00000349545:W532C	ENSP00000320291:W914C	W	-	3	0	OSBPL1A	19999035	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.783000	0.85696	2.631000	0.89168	0.491000	0.48974	TGG	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254902.1		-	ENST00000319481.3	Missense_Mutation	SNP	18 : 21745037 - 21745037 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	1316	135
P2RY6	5031	broad.mit.edu	37	11	73008405	73008405	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73008405C>T	ENST00000393590.2	+	2	1141	c.842C>T	c.(841-843)gCg>gTg	p.A281V	P2RY6_ENST00000542092.1_Missense_Mutation_p.A281V|P2RY6_ENST00000349767.2_Missense_Mutation_p.A281V|P2RY6_ENST00000393592.2_Missense_Mutation_p.A281V|P2RY6_ENST00000540342.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540124.1_Missense_Mutation_p.A281V|P2RY6_ENST00000538328.1_Missense_Mutation_p.A281V|P2RY6_ENST00000393591.1_Missense_Mutation_p.A281V	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	281					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(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCCTTTGCAGCGGCCTACAAA	0.602		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	11		NA											NA				73008405		2199	4292	6491	SO:0001583	missense				CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631	NA	5031		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	8543	protein-coding gene	gene with protein product		602451			NA	8670200	Standard		NM_176797	NA	Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.842C>T	11.37:g.73008405C>T	ENSP00000377215:p.Ala281Val	NA	Q15754	37	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.157720	0.01686	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328	T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	4.81	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.302347	0.31734	N	0.007143	T	0.03608	0.0103	N	0.02247	-0.625	0.09310	N	1	B	0.24651	0.108	B	0.16289	0.015	T	0.41875	-0.9484	10	0.02654	T	1	.	6.2522	0.20852	0.0:0.7162:0.0:0.2838	.	281	Q15077	P2RY6_HUMAN	V	281	ENSP00000443427:A281V;ENSP00000445652:A281V;ENSP00000309771:A281V;ENSP00000377217:A281V;ENSP00000377216:A281V;ENSP00000442551:A281V;ENSP00000377215:A281V;ENSP00000442990:A281V	ENSP00000309771:A281V	A	+	2	0	P2RY6	72686053	0.964000	0.33143	0.016000	0.15963	0.306000	0.27790	3.836000	0.55813	1.383000	0.46405	0.655000	0.94253	GCG	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397349.1		+	ENST00000393590.2	Missense_Mutation	SNP	11 : 73008405 - 73008405 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	534	74
PAGE1	8712	broad.mit.edu	37	X	49459355	49459355	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:49459355A>C	ENST00000376150.3	-	2	151	c.19T>G	c.(19-21)Tta>Gta	p.L7V		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	7					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CGATAGATTAATCTTCTTAGA	0.373		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	X		NA											NA				49459355		2203	4300	6503	SO:0001583	missense			AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985	8712	8712			4107	protein-coding gene	gene with protein product		300288	G antigen, family B, 1 (prostate associated)	GAGEB1	NA	9651357, 9724777	Standard		NM_003785	NA	Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.19T>G	X.37:g.49459355A>C	ENSP00000365320:p.Leu7Val	NA	Q6FGM3|Q9BSS7	37	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	A	6.763	0.509661	0.12883	.	.	ENSG00000068985	ENST00000376150	T	0.10005	2.92	1.57	1.57	0.23409	.	.	.	.	.	T	0.11067	0.0270	L	0.50333	1.59	0.09310	N	1	D	0.56521	0.976	P	0.46389	0.515	T	0.21211	-1.0252	9	0.24483	T	0.36	.	4.6903	0.12778	1.0:0.0:0.0:0.0	.	7	O75459	GAGB1_HUMAN	V	7	ENSP00000365320:L7V	ENSP00000365320:L7V	L	-	1	2	PAGE1	49346066	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.800000	0.27042	0.857000	0.35407	0.314000	0.21332	TTA	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081210.1		-	ENST00000376150.3	Missense_Mutation	SNP	X : 49459355 - 49459355 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	67	45
PCDHB7	56129	broad.mit.edu	37	5	140554036	140554036	+	Silent	SNP	G	G	T	rs17844465		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:140554036G>T	ENST00000231137.3	+	1	1794	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	540	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)			GCTCCCCCGCGCTGAGCAGCG	0.701		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	5		NA											NA				140554036		2201	4298	6499	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.1620G>T	5.37:g.140554036G>T		NA		37	CCDS4249.1																																																																																			PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251803.2		+	ENST00000231137.3	Silent	SNP	5 : 140554036 - 140554036 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	495	8
PHACTR3	116154	broad.mit.edu	37	20	58342409	58342409	+	Missense_Mutation	SNP	C	C	T	rs139799389	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:58342409C>T	ENST00000371015.1	+	5	1177	c.710C>T	c.(709-711)cCg>cTg	p.P237L	PHACTR3_ENST00000355648.4_Missense_Mutation_p.P196L|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P234L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P196L|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P196L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	237	Pro-rich.					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)			CTGCCCACTCCGCCACCCAAG	0.587		NA											C	2	9e-04	0.0041	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	0.001	0.9203	LOWCOV	NA	NA	4e-04	SNP								NA				0								C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,	1,4403		0,1,2201	31	29	30		701,587,710,587,	4.7	0.8	20	dbSNP_134	30	16,8584		0,16,4284	yes	missense,missense,missense,missense,intron	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	98,98,98,98,	0,17,6485	TT,TC,CC	NA	0.186,0.0227,0.1307	probably-damaging,probably-damaging,probably-damaging,probably-damaging,	234/557,196/519,237/560,196/519,	58342409	17,12987	2202	4300	6502	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.710C>T	20.37:g.58342409C>T	ENSP00000360054:p.Pro237Leu	NA	B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	37	CCDS13480.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.73	2.621533	0.46736	2.27E-4	0.00186	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.23147	1.92;1.93;1.93;1.93;1.93	4.7	4.7	0.59300	.	0.109577	0.64402	D	0.000006	T	0.24774	0.0601	M	0.63428	1.95	0.80722	D	1	P;B	0.38300	0.626;0.42	B;B	0.25506	0.059;0.061	T	0.11792	-1.0573	10	0.42905	T	0.14	-17.6812	16.6343	0.85042	0.0:1.0:0.0:0.0	.	237;234	Q96KR7;B1AKX0	PHAR3_HUMAN;.	L	234;237;196;196;196	ENSP00000353002:P234L;ENSP00000360054:P237L;ENSP00000442483:P196L;ENSP00000347866:P196L;ENSP00000378998:P196L	ENSP00000347866:P196L	P	+	2	0	PHACTR3	57775804	0.986000	0.35501	0.836000	0.33094	0.972000	0.66771	3.474000	0.53129	2.166000	0.68216	0.460000	0.39030	CCG	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079923.3		+	ENST00000371015.1	Missense_Mutation	SNP	20 : 58342409 - 58342409 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	299	61
POLA1	5422	broad.mit.edu	37	X	24839663	24839663	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:24839663T>C	ENST00000379068.3	+	31	3567	c.3524T>C	c.(3523-3525)gTg>gCg	p.V1175A	POLA1_ENST00000379059.3_Missense_Mutation_p.V1169A			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1169					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)	GGCAGAAAGGTGAAAGCTGGA	0.393		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	X		NA											NA				24839663		2203	4300	6503	SO:0001583	missense				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.3524T>C	X.37:g.24839663T>C	ENSP00000368358:p.Val1175Ala	NA	Q86UQ7	37		.	.	.	.	.	.	.	.	.	.	T	16.66	3.184335	0.57800	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.17528	2.27;2.27	4.9	4.9	0.64082	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.246861	0.40302	N	0.001126	T	0.26268	0.0641	M	0.69823	2.125	0.58432	D	0.999998	P	0.37207	0.587	B	0.43754	0.43	T	0.03240	-1.1057	10	0.21540	T	0.41	-0.1434	13.7335	0.62804	0.0:0.0:0.0:1.0	.	1169	P09884	DPOLA_HUMAN	A	1175;1169	ENSP00000368358:V1175A;ENSP00000368349:V1169A	ENSP00000368349:V1169A	V	+	2	0	POLA1	24749584	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	7.463000	0.80869	1.816000	0.52996	0.441000	0.28932	GTG	POLA1-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000056112.1		+	ENST00000379068.3	Missense_Mutation	SNP	X : 24839663 - 24839663 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	87	87
POM121L12	285877	broad.mit.edu	37	7	53104077	53104077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:53104077C>T	ENST00000408890.4	+	1	729	c.713C>T	c.(712-714)cCg>cTg	p.P238L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	238										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTCTGAAGCCGAGCCTCGGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/PRO	1,3927		0,1,1963	44	52	49		713	-3.7	0	7		49	0,8270		0,0,4135	no	missense	POM121L12	NM_182595.3	98	0,1,6098	TT,TC,CC	NA	0.0,0.0255,0.0082	possibly-damaging	238/297	53104077	1,12197	1964	4135	6099	SO:0001583	missense				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900	285877	285877			25369	protein-coding gene	gene with protein product			POM121 membrane glycoprotein-like 12		NA		Standard	NM_182595	NM_182595	NA	Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.713C>T	7.37:g.53104077C>T	ENSP00000386133:p.Pro238Leu	NA	Q8NDI9	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	3.553	-0.091246	0.07053	2.55E-4	0.0	ENSG00000221900	ENST00000408890	T	0.10860	2.83	1.84	-3.67	0.04476	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	P	0.49635	0.926	P	0.45037	0.467	T	0.19353	-1.0308	9	0.51188	T	0.08	.	5.1209	0.14860	0.4429:0.2886:0.2685:0.0	.	238	Q8N7R1	P1L12_HUMAN	L	238	ENSP00000386133:P238L	ENSP00000386133:P238L	P	+	2	0	POM121L12	53071571	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.714000	0.01881	-2.499000	0.00511	-1.083000	0.02208	CCG	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342656.1		+	ENST00000408890.4	Missense_Mutation	SNP	7 : 53104077 - 53104077 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	416	96
PRICKLE1	144165	broad.mit.edu	37	12	42854329	42854329	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:42854329T>C	ENST00000455697.1	-	8	2063	c.1778A>G	c.(1777-1779)gAg>gGg	p.E593G	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E593G|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E593G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E593G|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E593G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	593					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)		CTTTAAGGACTCTGCACTCCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	132	135			NA	NA	12		NA											NA				42854329		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.1778A>G	12.37:g.42854329T>C	ENSP00000401060:p.Glu593Gly	NA	Q14C83|Q71QF8|Q96N00	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284911	0.59867	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.56	5.56	0.83823	.	0.198871	0.52532	D	0.000063	T	0.62648	0.2445	L	0.61218	1.895	0.52501	D	0.999951	P	0.36222	0.544	B	0.27887	0.084	T	0.68398	-0.5419	10	0.87932	D	0	-11.3229	16.0186	0.80464	0.0:0.0:0.0:1.0	.	593	Q96MT3	PRIC1_HUMAN	G	593	ENSP00000401060:E593G;ENSP00000398947:E593G;ENSP00000448359:E593G;ENSP00000345064:E593G;ENSP00000449819:E593G	ENSP00000345064:E593G	E	-	2	0	PRICKLE1	41140596	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.756000	0.62205	2.244000	0.73946	0.528000	0.53228	GAG	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404069.1		-	ENST00000455697.1	Missense_Mutation	SNP	12 : 42854329 - 42854329 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	984	196
PTPN23	25930	broad.mit.edu	37	3	47453870	47453870	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:47453870C>T	ENST00000265562.4	+	23	4353	c.4276C>T	c.(4276-4278)Cgg>Tgg	p.R1426W	PTPN23_ENST00000431726.1_Missense_Mutation_p.R1300W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1426	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.R1426W(1)		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)		TCAGCTGGTGCGGCGCATGCG	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)	prostate(1)											37	37	37			NA	NA	3		NA											NA				47453870		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.4276C>T	3.37:g.47453870C>T	ENSP00000265562:p.Arg1426Trp	NA	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559102	0.45590	.	.	ENSG00000076201	ENST00000265562	D	0.84146	-1.81	3.99	3.08	0.35506	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.315773	0.26304	N	0.025156	D	0.86377	0.5918	L	0.49571	1.57	0.32817	D	0.502271	D	0.76494	0.999	P	0.57846	0.828	D	0.87764	0.2600	10	0.56958	D	0.05	-21.5748	9.5586	0.39355	0.5458:0.4541:0.0:0.0	.	1426	Q9H3S7	PTN23_HUMAN	W	1426	ENSP00000265562:R1426W	ENSP00000265562:R1426W	R	+	1	2	PTPN23	47428874	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.491000	0.35583	0.813000	0.34350	0.563000	0.77884	CGG	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257492.2		+	ENST00000265562.4	Missense_Mutation	SNP	3 : 47453870 - 47453870 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	197	5
PXT1	222659	broad.mit.edu	37	6	36368236	36368236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:36368236G>A	ENST00000454782.2	-	4	778	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	16						peroxisome					NA						CTCACCTCTCGAACCATCCTA	0.493		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	LOWCOV	NA	NA	3e-04	SNP								NA				0													237	191	207			NA	NA	6		NA											NA				36368236		2203	4300	6503	SO:0001587	stop_gained			AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165	222659	222659			18312	protein-coding gene	gene with protein product					NA		Standard	NM_152990	NM_152990	NA	Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.295C>T	6.37:g.36368236G>A	ENSP00000419944:p.Arg99*	NA		37	CCDS4820.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	39	7.886637	0.98542	.	.	ENSG00000179165	ENST00000454782;ENST00000538109	.	.	.	4.9	4.01	0.46588	.	0.919982	0.08824	N	0.888375	.	.	.	.	.	.	0.49915	D	0.999834	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0883	10.898	0.47034	0.0:0.1901:0.8099:0.0	.	.	.	.	X	99;16	.	ENSP00000419944:R99X	R	-	1	2	PXT1	36476214	0.069000	0.21087	0.259000	0.24435	0.603000	0.37013	1.193000	0.32162	1.250000	0.43966	0.555000	0.69702	CGA	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357516.2		-	ENST00000454782.2	Nonsense_Mutation	SNP	6 : 36368236 - 36368236 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	504	85
QRICH2	84074	broad.mit.edu	37	17	74283929	74283929	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:74283929C>G	ENST00000262765.5	-	6	3529	c.3350G>C	c.(3349-3351)gGg>gCg	p.G1117A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1117							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						CAGTTCCTTCCCTGCTTCTTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	160	186			NA	NA	17		NA											NA				74283929		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.3350G>C	17.37:g.74283929C>G	ENSP00000262765:p.Gly1117Ala	NA	A2RRE1|Q96LM3	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423478	0.25639	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.61158	2.14;0.13	4.8	2.41	0.29592	.	.	.	.	.	T	0.52901	0.1763	N	0.20986	0.625	0.09310	N	1	D;D	0.55605	0.972;0.972	P;P	0.58210	0.831;0.835	T	0.34477	-0.9827	9	0.33141	T	0.24	-11.7068	6.6966	0.23203	0.0:0.6871:0.0:0.3129	.	1117;1117	B5MD94;Q9H0J4	.;QRIC2_HUMAN	A	1117;125;1117	ENSP00000262765:G1117A;ENSP00000394461:G125A	ENSP00000262765:G1117A	G	-	2	0	QRICH2	71795524	0.004000	0.15560	0.622000	0.29159	0.024000	0.10985	0.401000	0.20948	1.001000	0.39076	0.462000	0.41574	GGG	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395140.1		-	ENST00000262765.5	Missense_Mutation	SNP	17 : 74283929 - 74283929 G PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	449	19
RAPGEF2	9693	broad.mit.edu	37	4	160260455	160260455	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:160260455G>T	ENST00000264431.4	+	13	2419	c.2000G>T	c.(1999-2001)aGa>aTa	p.R667I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	667	Ras-associating.				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)		AAACAAAGAAGACTTCCAGAT	0.438		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	4		NA											NA				160260455		1878	4099	5977	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.2000G>T	4.37:g.160260455G>T	ENSP00000264431:p.Arg667Ile	NA	D3DP27	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766898	0.90020	.	.	ENSG00000109756	ENST00000264431	T	0.30182	1.54	5.18	5.18	0.71444	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65705	-0.6103	10	0.87932	D	0	.	19.0561	0.93066	0.0:0.0:1.0:0.0	.	667	Q9Y4G8	RPGF2_HUMAN	I	667	ENSP00000264431:R667I	ENSP00000264431:R667I	R	+	2	0	RAPGEF2	160479905	1.000000	0.71417	0.020000	0.16555	0.929000	0.56500	9.726000	0.98782	2.571000	0.86741	0.591000	0.81541	AGA	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364980.2		+	ENST00000264431.4	Missense_Mutation	SNP	4 : 160260455 - 160260455 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	763	49
SAC3D1	29901	broad.mit.edu	37	11	64812163	64812163	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:64812163A>C	ENST00000531072.1	+	3	1254	c.1041A>C	c.(1039-1041)gaA>gaC	p.E347D	SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000398846.1_Missense_Mutation_p.E347D					SAC3 domain containing 1	NA										endometrium(2)|lung(1)	3						CAGAGGAGGAAGATGAGGGCA	0.602		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	11		NA											NA				64812163		2128	4223	6351	SO:0001583	missense			U79266	CCDS41668.1	11q13.1	2008-02-05			ENSG00000168061	ENSG00000168061	29901	29901			30179	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_013299	NM_013299	NA	Approved	HSU79266, SHD1	uc001ocm.3	A6NKF1	OTTHUMG00000165594	ENST00000531072.1:c.1041A>C	11.37:g.64812163A>C	ENSP00000436649:p.Glu347Asp	NA		37	CCDS41668.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298035	0.23650	.	.	ENSG00000168061	ENST00000531072;ENST00000398846;ENST00000301885	T;T	0.31510	1.49;1.49	4.24	0.609	0.17575	.	0.689101	0.11980	N	0.510852	T	0.15782	0.0380	L	0.27053	0.805	0.20307	N	0.999911	B	0.12013	0.005	B	0.06405	0.002	T	0.29488	-1.0010	10	0.15952	T	0.53	-1.5817	3.1984	0.06641	0.3353:0.2503:0.4144:0.0	.	393	A6NKF1	SAC31_HUMAN	D	347;347;392	ENSP00000436649:E347D;ENSP00000381824:E347D	ENSP00000301885:E392D	E	+	3	2	SAC3D1	64568739	0.017000	0.18338	0.948000	0.38648	0.523000	0.34469	-0.945000	0.03909	0.268000	0.21939	0.528000	0.53228	GAA	SAC3D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385155.1		+	ENST00000531072.1	Missense_Mutation	SNP	11 : 64812163 - 64812163 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	303	36
SEC24C	9632	broad.mit.edu	37	10	75530836	75530836	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:75530836C>T	ENST00000339365.2	+	24	3430	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W	SEC24C_ENST00000411652.2_Missense_Mutation_p.R971W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R338W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R338W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R1090W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1090					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)					CAAGGAGATTCGGCAGCTACT	0.488		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	10		NA											NA				75530836		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.3268C>T	10.37:g.75530836C>T	ENSP00000343405:p.Arg1090Trp	NA	Q8WV25	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909189	0.72868	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64410	0.925;0.925	T	0.64132	-0.6479	10	0.66056	D	0.02	-11.7174	15.3963	0.74798	0.1392:0.8608:0.0:0.0	.	971;1090	E7EP00;P53992	.;SC24C_HUMAN	W	338;1090;338;1090;971	ENSP00000446174:R338W;ENSP00000321845:R1090W;ENSP00000445023:R338W;ENSP00000343405:R1090W;ENSP00000402913:R971W	ENSP00000343405:R1090W	R	+	1	2	SEC24C	75200842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.767000	0.62286	2.894000	0.99253	0.591000	0.81541	CGG	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048679.1		+	ENST00000339365.2	Missense_Mutation	SNP	10 : 75530836 - 75530836 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	676	212
SLC30A8	169026	broad.mit.edu	37	8	118165302	118165302	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:118165302C>T	ENST00000456015.2	+	3	391	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SLC30A8_ENST00000427715.2_Missense_Mutation_p.R82W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000519688.1_Missense_Mutation_p.R82W	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	131					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)			TCCCTCTAAGCGGCTGACATT	0.507		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													120	88	98			NA	NA	8		NA											NA				118165302		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.391C>T	8.37:g.118165302C>T	ENSP00000415011:p.Arg131Trp	NA	A0AVP9|A5YM39|B4DPE0|Q8TCL3	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024966	0.54683	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.37	0.822	0.18806	.	0.812377	0.11451	N	0.562795	T	0.78104	0.4231	M	0.82923	2.615	0.09310	N	0.999999	D	0.65815	0.995	P	0.61722	0.893	T	0.70912	-0.4743	10	0.72032	D	0.01	-1.0271	15.0224	0.71640	0.69:0.31:0.0:0.0	.	131	Q8IWU4	ZNT8_HUMAN	W	82;82;82;82;131	ENSP00000428545:R82W;ENSP00000427760:R82W;ENSP00000407505:R82W;ENSP00000431069:R82W;ENSP00000415011:R131W	ENSP00000407505:R82W	R	+	1	2	SLC30A8	118234483	0.046000	0.20272	0.094000	0.20943	0.336000	0.28762	0.600000	0.24104	0.243000	0.21327	0.655000	0.94253	CGG	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381205.1		+	ENST00000456015.2	Missense_Mutation	SNP	8 : 118165302 - 118165302 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	196	40
SLC5A3	6526	broad.mit.edu	37	21	35469256	35469256	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr21:35469256C>T	ENST00000381151.3	+	2	2271	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S	SLC5A3_ENST00000608209.1_Missense_Mutation_p.P587S|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	587						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						CCACATCATTCCCAACGGGAA	0.473		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	21		NA											NA				35469256		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.1759C>T	21.37:g.35469256C>T	ENSP00000370543:p.Pro587Ser	NA	O43489	37	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422391	0.43020	.	.	ENSG00000198743	ENST00000381151	D	0.85556	-2.0	6.06	6.06	0.98353	.	0.578471	0.16748	N	0.201173	T	0.76499	0.3996	L	0.34521	1.04	0.41674	D	0.989258	B	0.30326	0.276	B	0.21917	0.037	T	0.71199	-0.4663	10	0.14656	T	0.56	.	14.4021	0.67053	0.0:0.9291:0.0:0.0709	.	587	P53794	SC5A3_HUMAN	S	587	ENSP00000370543:P587S	ENSP00000370543:P587S	P	+	1	0	SLC5A3	34391126	0.999000	0.42202	0.985000	0.45067	0.966000	0.64601	1.925000	0.40074	2.885000	0.99019	0.643000	0.83706	CCC	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141037.1		+	ENST00000381151.3	Missense_Mutation	SNP	21 : 35469256 - 35469256 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	410	53
SPACA7	122258	broad.mit.edu	37	13	113053418	113053418	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:113053418G>A	ENST00000375699.3	+	3	359	c.187G>A	c.(187-189)Gag>Aag	p.E63K	SPACA7_ENST00000283550.3_Missense_Mutation_p.E94K			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	94						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TGGTGGTTCTGAGAATTACCA	0.353		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				113053418		2203	4300	6503	SO:0001583	missense			BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498	122258	122258			29575	protein-coding gene	gene with protein product			chromosome 13 open reading frame 28	C13orf28	NA	22495889	Standard	NM_145248	NM_145248	NA	Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000375699.3:c.187G>A	13.37:g.113053418G>A	ENSP00000364851:p.Glu63Lys	NA	Q5T8L1	37		.	.	.	.	.	.	.	.	.	.	G	10.95	1.494488	0.26774	.	.	ENSG00000153498	ENST00000283550;ENST00000414180;ENST00000443541;ENST00000375699	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	2.98	2.1	0.27182	.	.	.	.	.	T	0.42449	0.1203	L	0.29908	0.895	0.09310	N	1	D	0.54207	0.965	P	0.50049	0.629	T	0.23048	-1.0199	9	0.87932	D	0	-9.0944	8.1132	0.30926	0.0:0.3265:0.6735:0.0	.	94	Q96KW9	SPAC7_HUMAN	K	94;82;80;63	ENSP00000283550:E94K;ENSP00000416096:E82K;ENSP00000406733:E80K;ENSP00000364851:E63K	ENSP00000283550:E94K	E	+	1	0	SPACA7	112101419	0.000000	0.05858	0.026000	0.17262	0.065000	0.16274	-0.208000	0.09371	0.743000	0.32719	0.650000	0.86243	GAG	SPACA7-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000045823.1		+	ENST00000375699.3	Missense_Mutation	SNP	13 : 113053418 - 113053418 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	229	40
TBC1D16	125058	broad.mit.edu	37	17	77926611	77926612	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:77926611_77926612insG	ENST00000310924.2	-	4	900_901	c.785_786insC	c.(784-786)ccgfs	p.P262fs		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	262	Ser-rich.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CGGAGCTGGACGGGGGGCTGGT	0.653		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(14;397 562 4850 31922 49378)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291	125058	125058			28356	protein-coding gene	gene with protein product					NA	23019362	Standard	NM_019020	NM_019020	NA	Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.786dupC	17.37:g.77926617_77926617dupG	ENSP00000309794:p.Pro262fs	NA		37	CCDS11766.1																																																																																			TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437145.1		-	ENST00000310924.2	Frame_Shift_Ins	INS	17 : 77926611 - 77926612 G PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	358	83
TEKT5	146279	broad.mit.edu	37	16	10721628	10721628	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:10721628C>T	ENST00000283025.2	-	7	1341	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	424					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						TGCAGGGTGTCGTCGATGGTG	0.542		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	16		NA											NA				10721628		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.1270G>A	16.37:g.10721628C>T	ENSP00000283025:p.Asp424Asn	NA	A1L3Z3	37	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688739	0.48097	.	.	ENSG00000153060	ENST00000283025	T	0.02525	4.26	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000009	T	0.04724	0.0128	L	0.49513	1.565	0.58432	D	0.999996	B	0.25521	0.128	B	0.26517	0.07	T	0.43718	-0.9374	10	0.36615	T	0.2	-37.626	15.4575	0.75327	0.0:1.0:0.0:0.0	.	424	Q96M29	TEKT5_HUMAN	N	424	ENSP00000283025:D424N	ENSP00000283025:D424N	D	-	1	0	TEKT5	10629129	1.000000	0.71417	0.981000	0.43875	0.308000	0.27856	5.521000	0.67086	2.432000	0.82394	0.505000	0.49811	GAC	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251963.1		-	ENST00000283025.2	Missense_Mutation	SNP	16 : 10721628 - 10721628 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	220	8
TMEM200C	645369	broad.mit.edu	37	18	5892008	5892008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:5892008G>A	ENST00000581347.2	-	3	700	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R19C			A6NKL6	T200C_HUMAN	transmembrane protein 200C	NA						integral to membrane		p.R19S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGGGGGCGGAGTGGATCC	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)	stomach(1)											62	66	65			NA	NA	18		NA											NA				5892008		2058	4208	6266	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.55C>T	18.37:g.5892008G>A	ENSP00000463375:p.Arg19Cys	NA		37	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361603	0.61403	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.3	4.3	0.51218	.	0.061497	0.64402	D	0.000004	T	0.74854	0.3771	M	0.65498	2.005	0.49130	D	0.99975	D	0.89917	1.0	D	0.70935	0.971	T	0.77629	-0.2516	9	0.87932	D	0	-9.4438	12.267	0.54684	0.0:0.0:0.6997:0.3003	.	19	A6NKL6	T200C_HUMAN	C	19	.	ENSP00000372982:R19C	R	-	1	0	TMEM200C	5882008	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.903000	0.48711	2.376000	0.81061	0.557000	0.71058	CGC	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441917.4		-	ENST00000581347.2	Missense_Mutation	SNP	18 : 5892008 - 5892008 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	167	18
TMEM30A	55754	broad.mit.edu	37	6	75965841	75965841	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:75965841T>C	ENST00000230461.6	-	7	1392	c.1063A>G	c.(1063-1065)Aat>Gat	p.N355D	TMEM30A_ENST00000370050.5_Missense_Mutation_p.N236D|TMEM30A_ENST00000475111.2_Missense_Mutation_p.N319D	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	355						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGCTGTATTACTACTGTTT	0.358		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	6		NA											NA				75965841		2203	4299	6502	SO:0001583	missense			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697	55754	55754			16667	protein-coding gene	gene with protein product		611028	chromosome 6 open reading frame 67	C6orf67	NA	15375526	Standard	NM_018247	NM_001143958	NA	Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.1063A>G	6.37:g.75965841T>C	ENSP00000230461:p.Asn355Asp	NA	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523412	0.64747	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.77	5.77	0.91146	.	0.082960	0.85682	D	0.000000	T	0.34135	0.0887	L	0.45228	1.405	0.50171	D	0.999851	B;B	0.09022	0.002;0.002	B;B	0.17433	0.006;0.018	T	0.36578	-0.9742	9	0.05525	T	0.97	.	16.0847	0.81038	0.0:0.0:0.0:1.0	.	319;355	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	D	355;339;236;319	.	ENSP00000230461:N355D	N	-	1	0	TMEM30A	76022561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.202000	0.70862	0.528000	0.53228	AAT	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041248.2		-	ENST00000230461.6	Missense_Mutation	SNP	6 : 75965841 - 75965841 C PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	216	31
TMEM38A	79041	broad.mit.edu	37	19	16797152	16797152	+	Missense_Mutation	SNP	G	G	A	rs78725797		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:16797152G>A	ENST00000187762.2	+	5	699	c.608G>A	c.(607-609)cGc>cAc	p.R203H		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	203						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						CAGCAGACCCGCTGGCTCCCA	0.562		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	131	95	107		608	3.8	1	19	dbSNP_131	107	0,8600		0,0,4300	no	missense	TMEM38A	NM_024074.1	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	203/300	16797152	1,13005	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.608G>A	19.37:g.16797152G>A	ENSP00000187762:p.Arg203His	NA	A8K9P9	37	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	9.106	1.005306	0.19199	2.27E-4	0.0	ENSG00000072954	ENST00000187762	.	.	.	4.87	3.84	0.44239	.	0.110837	0.64402	D	0.000011	T	0.15349	0.0370	N	0.00869	-1.13	0.36185	D	0.849713	B	0.11235	0.004	B	0.08055	0.003	T	0.09907	-1.0653	9	0.33940	T	0.23	-42.5728	5.1808	0.15160	0.2785:0.0:0.7215:0.0	.	203	Q9H6F2	TM38A_HUMAN	H	203	.	ENSP00000187762:R203H	R	+	2	0	TMEM38A	16658152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.170000	0.58229	2.257000	0.74773	0.655000	0.94253	CGC	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462841.1		+	ENST00000187762.2	Missense_Mutation	SNP	19 : 16797152 - 16797152 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	189	5
TP53	7157	broad.mit.edu	37	17	7577517	7577517	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:7577517A>G	ENST00000420246.2	-	7	896	c.764T>C	c.(763-765)aTc>aCc	p.I255T	TP53_ENST00000445888.2_Missense_Mutation_p.I255T|TP53_ENST00000413465.2_Missense_Mutation_p.I255T|TP53_ENST00000359597.4_Missense_Mutation_p.I255T|TP53_ENST00000455263.2_Missense_Mutation_p.I255T|TP53_ENST00000269305.4_Missense_Mutation_p.I255T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCAGTGTGATGATGGTGAG	0.582		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	44	Substitution - Missense(24)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(2)|Unknown(1)	breast(10)|pancreas(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)											145	104	118			NA	NA	17		NA											NA				7577517		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.764T>C	17.37:g.7577517A>G	ENSP00000391127:p.Ile255Thr	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.136463	0.56936	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99812	-6.88;-6.88;-6.88;-6.88;-6.88;-6.88;-6.88	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058771	0.64402	D	0.000004	D	0.99704	0.9887	M	0.82630	2.6	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.999;0.981;0.998;0.999;1.0	D;P;D;D;D	0.87578	0.995;0.901;0.992;0.998;0.997	D	0.97329	0.9949	10	0.87932	D	0	-21.9257	12.3101	0.54924	1.0:0.0:0.0:0.0	.	255;255;255;255;255	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	T	255;255;255;255;255;255;244;123	ENSP00000410739:I255T;ENSP00000352610:I255T;ENSP00000269305:I255T;ENSP00000398846:I255T;ENSP00000391127:I255T;ENSP00000391478:I255T;ENSP00000425104:I123T	ENSP00000269305:I255T	I	-	2	0	TP53	7518242	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577517 - 7577517 G PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	253	67
TRIM42	287015	broad.mit.edu	37	3	140397360	140397360	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:140397360C>T	ENST00000286349.3	+	1	480	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	97						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCTGCTGCCGCAATACCAT	0.542		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	3		NA											NA				140397360		2194	4272	6466	SO:0001583	missense			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890	287015	287015		Tripartite motif containing / Tripartite motif containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Fibronectin type III domain containing, RING-type (C3HC4) zinc fingers	19014	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 40		tripartite motif-containing 42		NA		Standard	NM_152616	NM_152616	NA	Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.289C>T	3.37:g.140397360C>T	ENSP00000286349:p.Arg97Cys	NA	A1L4B4|Q8N832|Q8NDL3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768237	0.49680	.	.	ENSG00000155890	ENST00000286349	T	0.18810	2.19	5.15	2.12	0.27331	.	0.000000	0.48767	D	0.000162	T	0.16981	0.0408	N	0.14661	0.345	0.42892	D	0.994201	D	0.76494	0.999	P	0.54924	0.764	T	0.04053	-1.0981	10	0.66056	D	0.02	-23.7362	5.0235	0.14372	0.3777:0.5241:0.0:0.0982	.	97	Q8IWZ5	TRI42_HUMAN	C	97	ENSP00000286349:R97C	ENSP00000286349:R97C	R	+	1	0	TRIM42	141880050	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	1.466000	0.35310	1.262000	0.44165	0.655000	0.94253	CGC	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359531.2		+	ENST00000286349.3	Missense_Mutation	SNP	3 : 140397360 - 140397360 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	336	71
TSHZ2	128553	broad.mit.edu	37	20	51870106	51870106	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:51870106G>A	ENST00000371497.5	+	2	996	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.G34S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G34S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	37					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)			ggaggaCAGCGGTTCAGTAGC	0.532		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	0,4406		0,0,2203	67	63	65		100,109	4.7	0.9	20		65	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	56,56	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	34/1032,37/1035	51870106	1,13005	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.109G>A	20.37:g.51870106G>A	ENSP00000360552:p.Gly37Ser	NA	Q4VXM4|Q6N003|Q8N260	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	5.295	0.239845	0.10023	0.0	1.16E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.14022	2.55;2.54	5.7	4.66	0.58398	.	0.302267	0.35615	N	0.003083	T	0.08670	0.0215	L	0.29908	0.895	0.30185	N	0.800061	B	0.19200	0.034	B	0.08055	0.003	T	0.04900	-1.0919	10	0.48119	T	0.1	-17.7222	3.7522	0.08570	0.3374:0.0:0.6626:0.0	.	37	Q9NRE2	TSH2_HUMAN	S	37;34	ENSP00000360552:G37S;ENSP00000333114:G34S	ENSP00000333114:G34S	G	+	1	0	TSHZ2	51303513	0.992000	0.36948	0.935000	0.37517	0.345000	0.29048	2.759000	0.47573	2.685000	0.91497	0.643000	0.83706	GGT	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080398.6		+	ENST00000371497.5	Missense_Mutation	SNP	20 : 51870106 - 51870106 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	212	47
UNC5D	137970	broad.mit.edu	37	8	35647893	35647893	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:35647893G>A	ENST00000287272.2	+	16	2487	c.2467G>A	c.(2467-2469)Gct>Act	p.A823T	UNC5D_ENST00000416672.1_Missense_Mutation_p.A897T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A825T|UNC5D_ENST00000449677.1_Missense_Mutation_p.A468T|UNC5D_ENST00000404895.2_Missense_Mutation_p.A892T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A887T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	892					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)		ATCTTATTTCGCTACACAAAG	0.393		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	114	101	106		2674	5.7	1	8		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC5D	NM_080872.2	58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	892/954	35647893	1,13005	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.2467G>A	8.37:g.35647893G>A	ENSP00000287272:p.Ala823Thr	NA	Q8WYP7	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.470526	0.84533	0.0	1.16E-4	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.72	5.72	0.89469	Death (2);DEATH-like (2);	0.049286	0.85682	D	0.000000	D	0.86694	0.5994	L	0.52011	1.625	0.58432	D	0.999999	P;P;P	0.52692	0.955;0.944;0.955	P;B;B	0.48598	0.583;0.177;0.271	D	0.87244	0.2268	10	0.59425	D	0.04	-14.2436	19.873	0.96856	0.0:0.0:1.0:0.0	.	468;887;892	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	T	892;825;823;897;887;468	ENSP00000385143:A892T;ENSP00000392739:A825T;ENSP00000287272:A823T;ENSP00000412652:A897T;ENSP00000394303:A887T;ENSP00000397211:A468T	ENSP00000287272:A823T	A	+	1	0	UNC5D	35767435	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.497000	0.81536	2.705000	0.92388	0.557000	0.71058	GCT	UNC5D-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000347597.1		+	ENST00000287272.2	Missense_Mutation	SNP	8 : 35647893 - 35647893 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	578	123
USH2A	7399	broad.mit.edu	37	1	216496975	216496975	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:216496975C>T	ENST00000307340.3	-	8	1777	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H	USH2A_ENST00000366942.3_Missense_Mutation_p.R464H|USH2A_ENST00000366943.2_Missense_Mutation_p.R464H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	464	Laminin N-terminal.		R -> C (in USH2A; uncertain pathogenicity).		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)		GTATCCAGGACGATAATTTGG	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													138	140	140			NA	NA	1		NA											NA				216496975		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.1391G>A	1.37:g.216496975C>T	ENSP00000305941:p.Arg464His	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143821	0.94603	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.25579	2.16;2.15;1.79	5.23	5.23	0.72850	Laminin, N-terminal (3);	0.000000	0.42420	D	0.000719	T	0.61986	0.2391	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	T	0.72093	-0.4394	10	0.87932	D	0	.	18.8157	0.92076	0.0:1.0:0.0:0.0	.	464;464	O75445-2;O75445	.;USH2A_HUMAN	H	464	ENSP00000305941:R464H;ENSP00000355910:R464H;ENSP00000355909:R464H	ENSP00000305941:R464H	R	-	2	0	USH2A	214563598	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.485000	0.66850	2.424000	0.82194	0.655000	0.94253	CGT	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216496975 - 216496975 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	943	205
USP42	84132	broad.mit.edu	37	7	6189801	6189801	+	Silent	SNP	C	C	T			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:6189801C>T	ENST00000306177.5	+	13	2132	c.1974C>T	c.(1972-1974)aaC>aaT	p.N658N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	658					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)		TGACCCTAAACGGTGCTAATA	0.567		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	7		NA											NA				6189801		2043	4194	6237	SO:0001819	synonymous_variant			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.1974C>T	7.37:g.6189801C>T		NA	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	37	CCDS47535.1																																																																																			USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324262.3		+	ENST00000306177.5	Silent	SNP	7 : 6189801 - 6189801 T PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	180	34
VWA5A	4013	broad.mit.edu	37	11	124007800	124007801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:124007800_124007801insA	ENST00000456829.2	+	15	1955_1956	c.1704_1705insA	c.(1705-1707)aaafs	p.K569fs	VWA5A_ENST00000392748.1_Frame_Shift_Ins_p.K569fs|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	569										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						CAGCAAGTGATAAAAAAGATGC	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			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	ENST00000456829.2:c.1710dupA	11.37:g.124007806_124007806dupA	ENSP00000407726:p.Lys569fs	NA	Q6UN19|Q6UN20|Q9BVF8	37	CCDS8444.1																																																																																			VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387273.1		+	ENST00000456829.2	Frame_Shift_Ins	INS	11 : 124007800 - 124007801 A PAAD-TCGA-IB-7646-Tumor-SM-2NW7V	404	98
