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
AGAP8	0	broad.mit.edu	37	10	51225503	51225503	+	Silent	SNP	C	C	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:51225503C>G	ENST00000602930.1	-	9	1980	c.1431G>C	c.(1429-1431)gtG>gtC	p.V477V	AGAP8_ENST00000425119.2_Silent_p.V493V	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN		493	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						CCAGAGATCGCACACGGGAAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	79			NA	NA	10		NA											NA				51225503		2189	4258	6447	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000602930.1:c.1431G>C	10.37:g.51225503C>G		NA		37																																																																																				AGAP8-006	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000467541.1		-	ENST00000602930.1	Silent	SNP	10 : 51225503 - 51225503 G PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	823	5
ANTXR1	84168	broad.mit.edu	37	2	69409729	69409729	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:69409729G>A	ENST00000303714.4	+	16	1612	c.1290G>A	c.(1288-1290)ccG>ccA	p.P430P		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	430					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCCTGAGCCGCGAAATCTCA	0.473		NA							Familial Infantile Hemangioma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	129	131			NA	NA	2		NA											NA				69409729		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604	84168	84168			21014	protein-coding gene	gene with protein product	anthrax toxin receptor, tumor endothelial marker 8 precursor	606410			NA	10947988, 11559528	Standard	NM_032208	NM_032208	NA	Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1290G>A	2.37:g.69409729G>A		NA	A8K7U8|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	37	CCDS1892.1																																																																																			ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251770.2		+	ENST00000303714.4	Silent	SNP	2 : 69409729 - 69409729 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	455	5
ARHGAP10	79658	broad.mit.edu	37	4	148944528	148944528	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:148944528G>A	ENST00000336498.3	+	19	2070	c.1831G>A	c.(1831-1833)Gtg>Atg	p.V611M	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V260M	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	611					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAAGAGGCCCGTGGCCGTCTA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	99	98			NA	NA	4		NA											NA				148944528		2203	4300	6503	SO:0001583	missense			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205	79658	79658		Rho GTPase activating proteins	26099	protein-coding gene	gene with protein product		609746			NA	8288572	Standard	NM_024605	NM_024605	NA	Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1831G>A	4.37:g.148944528G>A	ENSP00000336923:p.Val611Met	NA	A1L0S5|Q2VPC4|Q2VPC5|Q96EV3|Q96S75	37	CCDS34075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.18|15.18	2.755723|2.755723	0.49362|0.49362	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000507661|ENST00000336498;ENST00000414545	.|T;T	.|0.11930	.|3.04;2.73	5.72|5.72	3.96|3.96	0.45880|0.45880	.|.	.|0.543718	.|0.18919	.|N	.|0.127533	T|T	0.25754|0.25754	0.0627|0.0627	L|L	0.40543|0.40543	1.245|1.245	0.36518|0.36518	D|D	0.869994|0.869994	.|D;D;D;D	.|0.89917	.|1.0;0.983;0.993;0.987	.|D;P;P;P	.|0.85130	.|0.997;0.507;0.475;0.475	T|T	0.07385|0.07385	-1.0775|-1.0775	5|10	.|0.46703	.|T	.|0.11	.|.	9.5873|9.5873	0.39524|0.39524	0.0749:0.2861:0.639:0.0|0.0749:0.2861:0.639:0.0	.|.	.|44;192;260;611	.|Q9H7G7;Q86T21;E7EUW5;A1A4S6	.|.;.;.;RHG10_HUMAN	H|M	288|611;260	.|ENSP00000336923:V611M;ENSP00000406624:V260M	.|ENSP00000336923:V611M	R|V	+|+	2|1	0|0	ARHGAP10|ARHGAP10	149163978|149163978	0.951000|0.951000	0.32395|0.32395	0.938000|0.938000	0.37757|0.37757	0.989000|0.989000	0.77384|0.77384	1.511000|1.511000	0.35801|0.35801	0.732000|0.732000	0.32470|0.32470	0.655000|0.655000	0.94253|0.94253	CGT|GTG	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365005.1		+	ENST00000336498.3	Missense_Mutation	SNP	4 : 148944528 - 148944528 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	489	34
ARHGAP17	55114	broad.mit.edu	37	16	24942323	24942323	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:24942323A>G	ENST00000289968.6	-	19	2366	c.2297T>C	c.(2296-2298)cTa>cCa	p.L766P	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.L688P|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	766	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGTTTTCCTAGGGGCGGAGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	85	80			NA	NA	16		NA											NA				24942323		2197	4300	6497	SO:0001583	missense			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750	55114	55114		Rho GTPase activating proteins	18239	protein-coding gene	gene with protein product		608293			NA	10967100, 11431473	Standard	NM_018054	XM_005255413	NA	Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2297T>C	16.37:g.24942323A>G	ENSP00000289968:p.Leu766Pro	NA	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466931	0.26335	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.20738	2.05;2.08	5.39	4.27	0.50696	.	0.234011	0.21868	N	0.067922	T	0.34454	0.0898	L	0.41356	1.27	0.31123	N	0.708582	B;B;D;B;B	0.89917	0.004;0.003;1.0;0.137;0.215	B;B;D;B;B	0.91635	0.011;0.005;0.999;0.066;0.139	T	0.28138	-1.0053	10	0.54805	T	0.06	.	9.6939	0.40145	0.9158:0.0:0.0842:0.0	.	688;766;299;599;327	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9;B4DVF3	.;RHG17_HUMAN;.;.;.	P	766;688;766	ENSP00000289968:L766P;ENSP00000303130:L688P	ENSP00000289968:L766P	L	-	2	0	ARHGAP17	24849824	0.862000	0.29867	0.018000	0.16275	0.069000	0.16628	3.540000	0.53611	0.829000	0.34733	0.454000	0.30748	CTA	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436548.3		-	ENST00000289968.6	Missense_Mutation	SNP	16 : 24942323 - 24942323 G PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	902	81
ATP12A	479	broad.mit.edu	37	13	25262530	25262530	+	Missense_Mutation	SNP	C	C	A	rs146927457		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr13:25262530C>A	ENST00000381946.3	+	4	469	c.302C>A	c.(301-303)aCg>aAg	p.T101K	ATP12A_ENST00000218548.6_Missense_Mutation_p.T101K			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	101					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCAAGCAGACGCCTGAGATC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(156;1582 1935 18898 22665 26498)							NA				0													203	212	209			NA	NA	13		NA											NA				25262530		2203	4300	6503	SO:0001583	missense			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	479	479	3.6.3.10	ATPases / P-type	13816	protein-coding gene	gene with protein product	ATPase, Na+K+ transporting, alpha-1 polypeptide-like, potassium-transporting ATPase alpha chain 2, proton pump, non-gastric H(+)/K(+) ATPase alpha subunit, sodium/potassium ATPase, alpha polypeptide-like	182360	ATPase, Na+/K+ transporting, alpha polypeptide-like 1	ATP1AL1	NA	8838794, 2842249	Standard	NM_001676	NM_001676	NA	Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.302C>A	13.37:g.25262530C>A	ENSP00000371372:p.Thr101Lys	NA	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097218	0.76870	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.77489	-1.1;-1.1	5.06	5.06	0.68205	ATPase, P-type cation-transporter, N-terminal (2);	0.151867	0.45606	D	0.000357	T	0.82226	0.4991	M	0.64404	1.975	0.80722	D	1	D;D	0.55172	0.957;0.97	P;P	0.52758	0.708;0.473	D	0.83710	0.0187	10	0.56958	D	0.05	.	15.9701	0.80008	0.0:1.0:0.0:0.0	.	101;101	P54707-2;P54707	.;AT12A_HUMAN	K	101	ENSP00000218548:T101K;ENSP00000371372:T101K	ENSP00000218548:T101K	T	+	2	0	ATP12A	24160530	1.000000	0.71417	0.801000	0.32222	0.716000	0.41182	5.692000	0.68256	2.624000	0.88883	0.655000	0.94253	ACG	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044199.1		+	ENST00000381946.3	Missense_Mutation	SNP	13 : 25262530 - 25262530 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	1931	136
BCLAF1	9774	broad.mit.edu	37	6	136589449	136589449	+	Nonsense_Mutation	SNP	G	G	A	rs147719127		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:136589449G>A	ENST00000531224.1	-	10	2500	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*	BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R750*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R577*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	750	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R750G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATGAAGATCGAGAATGATCT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(142;1534 1789 5427 7063 28491)							NA				1	Substitution - Missense(1)	urinary_tract(1)						G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	101	87	92		2242,1729,2248	4.1	1	6	dbSNP_134	92	5,8595	2.2+/-6.3	0,5,4295	yes	stop-gained,stop-gained,stop-gained	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	,,	0,5,6498	AA,AG,GG	NA	0.0581,0.0,0.0384	,,	748/870,577/748,750/921	136589449	5,13001	2203	4300	6503	SO:0001587	stop_gained			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363	9774	9774			16863	protein-coding gene	gene with protein product		612588			NA	8724849, 10330179	Standard	NM_014739	NM_001077440	NA	Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2248C>T	6.37:g.136589449G>A	ENSP00000435210:p.Arg750*	NA	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	42	9.204499	0.99099	0.0	5.81E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	.	.	.	4.97	4.07	0.47477	.	0.000000	0.47852	D	0.000213	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7893	12.524	0.56075	0.0:0.0:0.612:0.388	.	.	.	.	X	750;748;750;577;748;748	.	ENSP00000229446:R748X	R	-	1	2	BCLAF1	136631142	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.833000	0.39161	1.190000	0.43042	0.484000	0.47621	CGA	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042375.2		-	ENST00000531224.1	Nonsense_Mutation	SNP	6 : 136589449 - 136589449 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	248	9
C3	718	broad.mit.edu	37	19	6692960	6692960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:6692960G>A	ENST00000245907.6	-	26	3457	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1122					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TATCACGGGCGCATCCTCCTG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	125	123			NA	NA	19		NA											NA				6692960		2203	4300	6503	SO:0001583	missense			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	718	718	3.4.21.43	Complement system, Endogenous ligands	1318	protein-coding gene	gene with protein product	C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3	120700			NA		Standard	NM_000064	NM_000064	NA	Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3365C>T	19.37:g.6692960G>A	ENSP00000245907:p.Ala1122Val	NA	A7E236	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535622	0.64972	.	.	ENSG00000125730	ENST00000245907	T	0.36340	1.26	5.88	-0.693	0.11298	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.399877	0.28082	N	0.016661	T	0.47673	0.1458	M	0.76574	2.34	0.22199	N	0.999292	D	0.54964	0.969	P	0.48166	0.569	T	0.61559	-0.7038	10	0.48119	T	0.1	.	21.3471	0.99952	0.0:0.223:0.777:0.0	.	1122	P01024	CO3_HUMAN	V	1122	ENSP00000245907:A1122V	ENSP00000245907:A1122V	A	-	2	0	C3	6643960	0.005000	0.15991	0.191000	0.23289	0.673000	0.39480	0.146000	0.16180	0.064000	0.16427	-0.147000	0.13772	GCG	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Missense_Mutation	SNP	19 : 6692960 - 6692960 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	864	6
CAPN11	11131	broad.mit.edu	37	6	44144381	44144381	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:44144381C>T	ENST00000398776.1	+	10	1103	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	CAPN11_ENST00000542245.1_Silent_p.D355D	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	355	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGACGGAGGACGGGGAGTTCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4192		0,0,2096	94	110	104		1065	-5.4	0.6	6		104	1,8459		0,1,4229	no	coding-synonymous	CAPN11	NM_007058.3		0,1,6325	TT,TC,CC	NA	0.0118,0.0,0.0079		355/740	44144381	1,12651	2096	4230	6326	SO:0001819	synonymous_variant			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225	11131	11131		EF-hand domain containing	1478	protein-coding gene	gene with protein product		604822			NA	10409436	Standard		NM_007058	NA	Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1065C>T	6.37:g.44144381C>T		NA	B2RA64|Q5T3G1|Q8N4R5	37	CCDS47436.1																																																																																			CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040714.3		+	ENST00000398776.1	Silent	SNP	6 : 44144381 - 44144381 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	425	32
CD163	9332	broad.mit.edu	37	12	7635290	7635290	+	Missense_Mutation	SNP	C	C	A	rs139478533	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:7635290C>A	ENST00000359156.4	-	14	3398	c.3196G>T	c.(3196-3198)Gtc>Ttc	p.V1066F	CD163_ENST00000541972.1_Missense_Mutation_p.V1054F|CD163_ENST00000432237.2_Missense_Mutation_p.V1066F|CD163_ENST00000396620.3_Missense_Mutation_p.V1099F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1066					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.V1066I(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AATAATGCGACGAAAATGGCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											130	138	135			NA	NA	12		NA											NA				7635290		2203	4300	6503	SO:0001583	missense			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575	9332	9332		CD molecules	1631	protein-coding gene	gene with protein product		605545	CD163 antigen		NA	10403791, 8370408	Standard	NM_004244, NM_203416	NM_004244	NA	Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3196G>T	12.37:g.7635290C>A	ENSP00000352071:p.Val1066Phe	NA	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064039	0.20067	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01446	4.88;4.91;4.91;4.91	4.32	-0.639	0.11497	.	1.150940	0.06616	N	0.756554	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	P;P;P	0.37573	0.532;0.6;0.532	B;B;B	0.41860	0.185;0.368;0.185	T	0.51371	-0.8714	10	0.72032	D	0.01	.	7.6763	0.28488	0.0:0.3086:0.0:0.6914	.	1099;1066;1066	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	1066;1054;1099;1066	ENSP00000352071:V1066F;ENSP00000444071:V1054F;ENSP00000379863:V1099F;ENSP00000403885:V1066F	ENSP00000352071:V1066F	V	-	1	0	CD163	7526557	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.734000	0.04893	-0.102000	0.12197	-1.193000	0.01689	GTC	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399396.2		-	ENST00000359156.4	Missense_Mutation	SNP	12 : 7635290 - 7635290 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	568	46
CEL	1056	broad.mit.edu	37	9	135940495	135940495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:135940495G>A	ENST00000372080.4	+	4	434	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	CEL_ENST00000351304.7_Missense_Mutation_p.A137T	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	137					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGGCCATGGGGCCAACTTCCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	155	151			NA	NA	9		NA											NA				135940495		2050	4179	6229	SO:0001583	missense			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	1056	1056	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	bile salt-stimulated lipase	114840			NA	1676983	Standard		NM_001807	NA	Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.418G>A	9.37:g.135940495G>A	ENSP00000361151:p.Ala140Thr	NA	Q16398|Q5T7U7|Q9UCH1|Q9UP41	37	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166069	0.57476	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.72725	-0.47;-0.68	5.16	4.25	0.50352	Carboxylesterase, type B (1);	0.202192	0.51477	D	0.000085	T	0.67144	0.2862	L	0.46741	1.465	0.58432	D	0.999992	P	0.47350	0.894	P	0.44597	0.454	T	0.67937	-0.5541	10	0.45353	T	0.12	.	13.986	0.64337	0.0:0.0:0.8473:0.1527	.	137	P19835	CEL_HUMAN	T	140;137;140	ENSP00000361151:A140T;ENSP00000342217:A137T	ENSP00000304021:A140T	A	+	1	0	CEL	134930316	1.000000	0.71417	0.676000	0.29932	0.366000	0.29705	4.416000	0.59815	1.130000	0.42092	0.561000	0.74099	GCC	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054823.1		+	ENST00000372080.4	Missense_Mutation	SNP	9 : 135940495 - 135940495 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	1668	9
CEP170B	283638	broad.mit.edu	37	14	105353866	105353866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:105353866G>A	ENST00000414716.3	+	12	3518	c.3290G>A	c.(3289-3291)cGt>cAt	p.R1097H	CEP170B_ENST00000418279.1_Missense_Mutation_p.R1027H|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1027H|CEP170B_ENST00000453495.1_Missense_Mutation_p.R1098H	NM_001112726.2	NP_001106197.1			centrosomal protein 170B	NA											NA						GAGCAGAGCCGTAGCTCAGCC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	14	13			NA	NA	14		NA											NA				105353866		1925	4091	6016	SO:0001583	missense			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814	283638	283638			20362	protein-coding gene	gene with protein product	Cep170-related		KIAA0284	KIAA0284	NA	23087211	Standard	NM_001112726	NM_015005	NA	Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3290G>A	14.37:g.105353866G>A	ENSP00000404151:p.Arg1097His	NA		37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	8.639	0.895486	0.17613	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.34	4.34	0.51931	.	0.481200	0.20494	N	0.091239	T	0.36082	0.0954	M	0.63428	1.95	0.35035	D	0.759172	B;B;B	0.28667	0.143;0.027;0.219	B;B;B	0.21360	0.034;0.007;0.034	T	0.52223	-0.8604	10	0.66056	D	0.02	-15.6478	6.6379	0.22893	0.1748:0.0:0.8252:0.0	.	1097;1097;1027	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	H	1027;1097;1098;1027	ENSP00000451249:R1027H;ENSP00000404151:R1097H;ENSP00000407238:R1098H;ENSP00000415006:R1027H	ENSP00000404151:R1097H	R	+	2	0	KIAA0284	104424911	1.000000	0.71417	0.524000	0.27887	0.032000	0.12392	3.850000	0.55918	1.961000	0.56991	0.423000	0.28283	CGT	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410289.2		+	ENST00000414716.3	Missense_Mutation	SNP	14 : 105353866 - 105353866 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	150	4
DACH2	117154	broad.mit.edu	37	X	85969723	85969723	+	Splice_Site	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:85969723G>T	ENST00000373131.1	+	5	1228	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	DACH2_ENST00000508860.1_Splice_Site_p.K201N|DACH2_ENST00000373125.4_Splice_Site_p.K368N|DACH2_ENST00000510272.1_Splice_Site_p.K149N	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGTTATAAAGGTAAGAATCG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	59	62			NA	NA	X		NA											NA				85969723		2203	4300	6503	SO:0001630	splice_region_variant			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733	117154	117154			16814	protein-coding gene	gene with protein product		300608	dachshund homolog 2 (Drosophila)		NA		Standard	NM_053281	NM_053281	NA	Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373131.1:c.1065+1G>T	X.37:g.85969723G>T		NA	B1AJV3|Q8NAY3|Q8ND17|Q96N55	37	CCDS48140.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984771	0.74474	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.85556	-2.0;-2.0	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000003	D	0.90841	0.7123	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.998;0.993	P;P;D;D	0.71184	0.893;0.883;0.972;0.909	D	0.91059	0.4884	10	0.48119	T	0.1	.	17.3486	0.87316	0.0:0.0:1.0:0.0	.	234;368;355;368	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	N	368;355;368;201;149;201;23	ENSP00000362223:K355N;ENSP00000362217:K368N	ENSP00000345134:K368N	K	+	3	2	DACH2	85856379	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	8.894000	0.92506	2.021000	0.59480	0.422000	0.28245	AAG	DACH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057407.1	Missense_Mutation	+	ENST00000373131.1	Splice_Site	SNP	X : 85969723 - 85969723 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	357	33
DBH	1621	broad.mit.edu	37	9	136508639	136508639	+	Silent	SNP	C	C	T	rs78200745		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:136508639C>T	ENST00000393056.2	+	4	861	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	283					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCGGGCCCTGCGACTCCAAGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	63	64	64		849	-4.6	0.9	9	dbSNP_131	64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DBH	NM_000787.3		0,4,6499	TT,TC,CC	NA	0.0465,0.0,0.0308		283/618	136508639	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1621	1621	1.14.17.1		2689	protein-coding gene	gene with protein product		609312			NA		Standard	NM_000787	NM_000787	NA	Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.849C>T	9.37:g.136508639C>T		NA	Q5T381|Q96AG2	37	CCDS6977.2																																																																																			DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054929.2		+	ENST00000393056.2	Silent	SNP	9 : 136508639 - 136508639 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	570	6
DCAF4L2	138009	broad.mit.edu	37	8	88885063	88885063	+	Silent	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:88885063T>C	ENST00000319675.3	-	1	1233	c.1137A>G	c.(1135-1137)ccA>ccG	p.P379P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	379										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGAGCAGCCCTGGTGCTCCTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	55	53			NA	NA	8		NA											NA				88885063		2203	4300	6503	SO:0001819	synonymous_variant			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566	138009	138009		WD repeat domain containing	26657	protein-coding gene	gene with protein product			WD repeat domain 21C	WDR21C	NA	14702039	Standard	NM_152418	NM_152418	NA	Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1137A>G	8.37:g.88885063T>C		NA		37	CCDS6245.1																																																																																			DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375302.1		-	ENST00000319675.3	Silent	SNP	8 : 88885063 - 88885063 C PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	458	65
DCST1	149095	broad.mit.edu	37	1	155014235	155014235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:155014235G>A	ENST00000295542.1	+	8	890	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DCST1_ENST00000423025.2_Missense_Mutation_p.R240H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	265						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTTTGACCGCAAGCATGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	132	147			NA	NA	1		NA											NA				155014235		2203	4300	6503	SO:0001583	missense			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357	149095	149095			26539	protein-coding gene	gene with protein product					NA		Standard	NM_152494	NM_152494	NA	Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.794G>A	1.37:g.155014235G>A	ENSP00000295542:p.Arg265His	NA	Q5T198|Q6P1W6|Q71S70|Q96M70	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935876	0.34189	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.73	-6.0	0.02206	.	2.011450	0.02298	N	0.070951	T	0.11024	0.0269	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.13872	-1.0493	10	0.41790	T	0.15	0.7543	13.3586	0.60642	0.386:0.0:0.614:0.0	.	240;290;265	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	H	265;265;240;265	ENSP00000295542:R265H;ENSP00000376271:R265H;ENSP00000387369:R240H;ENSP00000357404:R265H	ENSP00000295542:R265H	R	+	2	0	DCST1	153280859	0.000000	0.05858	0.001000	0.08648	0.559000	0.35586	-1.570000	0.02140	-1.129000	0.02918	-1.332000	0.01269	CGC	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099006.1		+	ENST00000295542.1	Missense_Mutation	SNP	1 : 155014235 - 155014235 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	580	7
DDX41	51428	broad.mit.edu	37	5	176941738	176941738	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176941738C>T	ENST00000507955.1	-	9	1422	c.899G>A	c.(898-900)gGc>gAc	p.G300D		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	300	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				NA	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CACGGACATGCCCCCAATGCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	94	91			NA	NA	5		NA											NA				176941738		2202	4298	6500	SO:0001583	missense			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258	51428	51428		DEAD-boxes	18674	protein-coding gene	gene with protein product		608170			NA	10607561	Standard	NM_016222	NM_016222	NA	Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.899G>A	5.37:g.176941738C>T	ENSP00000422753:p.Gly300Asp	NA	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	37	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795543	0.90453	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.50548	0.74;0.74	5.74	4.85	0.62838	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056454	0.64402	N	0.000001	T	0.76026	0.3930	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83210	-0.0074	10	0.87932	D	0	-27.0527	15.8993	0.79359	0.1364:0.8636:0.0:0.0	.	174;300	B3KRK2;Q9UJV9	.;DDX41_HUMAN	D	318;300	ENSP00000330349:G318D;ENSP00000422753:G300D	ENSP00000330349:G318D	G	-	2	0	DDX41	176874344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.351000	0.79395	1.378000	0.46305	0.655000	0.94253	GGC	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253432.2		-	ENST00000507955.1	Missense_Mutation	SNP	5 : 176941738 - 176941738 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	899	7
DNAH11	8701	broad.mit.edu	37	7	21882220	21882220	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:21882220C>G	ENST00000409508.3	+	66	10781	c.10750C>G	c.(10750-10752)Cac>Gac	p.H3584D	DNAH11_ENST00000328843.6_Missense_Mutation_p.H3591D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3591	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCTTATCCTTCACACAAAATT	0.413		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	103	105			NA	NA	7		NA											NA				21882220		1890	4113	6003	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10750C>G	7.37:g.21882220C>G	ENSP00000475939:p.His3584Asp	NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	C	17.85	3.490687	0.64074	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53634	-0.8411	9	0.52906	T	0.07	.	17.8716	0.88813	0.0:1.0:0.0:0.0	.	3591	Q96DT5	DYH11_HUMAN	D	3591	ENSP00000330671:H3591D	ENSP00000330671:H3591D	H	+	1	0	DNAH11	21848745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.514000	0.84764	0.655000	0.94253	CAC	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6		+	ENST00000409508.3	Missense_Mutation	SNP	7 : 21882220 - 21882220 G PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	226	14
DOCK10	55619	broad.mit.edu	37	2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:225659771C>T	ENST00000409592.3	-	45	5074	c.4961G>A	c.(4960-4962)cGt>cAt	p.R1654H	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1660H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1660	DHR-2.						GTP binding	p.R1658H(1)|p.R198H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCCTTATACGCTTAGTCAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											142	143	143			NA	NA	2		NA											NA				225659771		2005	4185	6190	SO:0001583	missense			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905	55619	55619		Pleckstrin homology (PH) domain containing	23479	protein-coding gene	gene with protein product	zizimin3	611518			NA	12432077	Standard		NM_014689	NA	Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000409592.3:c.4961G>A	2.37:g.225659771C>T	ENSP00000386694:p.Arg1654His	NA	O75178|Q9NW06|Q9NXI8	37		.	.	.	.	.	.	.	.	.	.	C	35	5.577896	0.96565	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.65178	4.66;-0.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	M	0.91090	3.175	0.58432	D	0.999999	D;P;D;D	0.76494	0.972;0.95;0.984;0.999	B;B;P;D	0.64410	0.444;0.439;0.74;0.925	D	0.86564	0.1843	10	0.87932	D	0	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	1660;514;1654;322	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1654;1660;198	ENSP00000386694:R1654H;ENSP00000258390:R1660H	ENSP00000258390:R1660H	R	-	2	0	DOCK10	225368015	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	CGT	DOCK10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000331158.2		-	ENST00000409592.3	Missense_Mutation	SNP	2 : 225659771 - 225659771 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	719	53
DUSP6	1848	broad.mit.edu	37	12	89745479	89745479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:89745479G>T	ENST00000279488.7	-	1	1569	c.338C>A	c.(337-339)tCg>tAg	p.S113*	DUSP6_ENST00000308385.6_Nonsense_Mutation_p.S113*	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	113	Rhodanese.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CCCGAGCACCGACTCGCCGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(132;3456 5224)							NA				0													10	10	10			NA	NA	12		NA											NA				89745479		2160	4241	6401	SO:0001587	stop_gained			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318	1848	1848		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	3072	protein-coding gene	gene with protein product		602748			NA	8626780, 9205128	Standard	NM_001946, NM_022652	NM_001946	NA	Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.338C>A	12.37:g.89745479G>T	ENSP00000279488:p.Ser113*	NA	O75109|Q53Y75|Q9BSH6	37	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	G	46	12.912705	0.99705	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000548755	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6644	0.88200	0.0:0.0:1.0:0.0	.	.	.	.	X	113	.	ENSP00000279488:S113X	S	-	2	0	DUSP6	88269610	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.616000	0.98359	2.646000	0.89796	0.655000	0.94253	TCG	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406534.2		-	ENST00000279488.7	Nonsense_Mutation	SNP	12 : 89745479 - 89745479 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	89	4
EPHA1	2041	broad.mit.edu	37	7	143096794	143096794	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:143096794C>T	ENST00000275815.3	-	4	871	c.785G>A	c.(784-786)tGc>tAc	p.C262Y		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	262	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCACAGTGGCACCGTCCTAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	45	44			NA	NA	7		NA											NA				143096794		2203	4300	6503	SO:0001583	missense			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2041	2041	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3385	protein-coding gene	gene with protein product		179610	EphA1	EPHT, EPHT1	NA	9267020	Standard		NM_005232	NA	Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.785G>A	7.37:g.143096794C>T	ENSP00000275815:p.Cys262Tyr	NA	A1L3V3|Q15405	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877639	0.72294	.	.	ENSG00000146904	ENST00000275815	D	0.86627	-2.15	5.22	4.33	0.51752	Tyrosine-protein kinase, receptor class V, conserved site (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000003	D	0.92652	0.7665	M	0.93978	3.48	0.49213	D	0.999766	D	0.58970	0.984	P	0.51550	0.673	D	0.94170	0.7422	10	0.87932	D	0	.	13.6352	0.62219	0.0:0.926:0.0:0.074	.	262	P21709	EPHA1_HUMAN	Y	262	ENSP00000275815:C262Y	ENSP00000275815:C262Y	C	-	2	0	EPHA1	142806916	1.000000	0.71417	0.986000	0.45419	0.907000	0.53573	7.518000	0.81795	1.409000	0.46915	0.655000	0.94253	TGC	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342154.1		-	ENST00000275815.3	Missense_Mutation	SNP	7 : 143096794 - 143096794 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	501	38
FAM135B	51059	broad.mit.edu	37	8	139165382	139165382	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:139165382C>T	ENST00000395297.1	-	13	1506	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	446										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATACAGTTATCTTCCTTGTCT	0.328		NA								HNSCC(54;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	56	57			NA	NA	8		NA											NA				139165382		1853	4090	5943	SO:0001583	missense			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724	51059	51059			28029	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_015912	NM_015912	NA	Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1336G>A	8.37:g.139165382C>T	ENSP00000378710:p.Asp446Asn	NA	B5MDB3|O95879|Q2WGJ7|Q3KP46	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	2.542	-0.306135	0.05458	.	.	ENSG00000147724	ENST00000395297	T	0.13778	2.56	5.6	3.44	0.39384	.	2.006110	0.01697	N	0.026948	T	0.10895	0.0266	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29805	0.257;0.157;0.094	B;B;B	0.26864	0.074;0.051;0.023	T	0.28427	-1.0044	10	0.17369	T	0.5	-5.0172	10.0861	0.42419	0.0:0.8112:0.0:0.1888	.	446;446;446	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	446	ENSP00000378710:D446N	ENSP00000276737:D446N	D	-	1	0	FAM135B	139234564	0.831000	0.29352	0.867000	0.34043	0.006000	0.05464	2.266000	0.43320	1.348000	0.45733	0.655000	0.94253	GAT	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313590.3		-	ENST00000395297.1	Missense_Mutation	SNP	8 : 139165382 - 139165382 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	264	21
FAM181A	90050	broad.mit.edu	37	14	94394668	94394668	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:94394668T>G	ENST00000267594.5	+	3	530	c.223T>G	c.(223-225)Ttc>Gtc	p.F75V	FAM181A_ENST00000557000.2_Missense_Mutation_p.F13V|FAM181A_ENST00000556222.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557719.1_Missense_Mutation_p.F13V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	75										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTGCTGAACTTCGTGAACCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	74	77			NA	NA	14		NA											NA				94394668		2203	4300	6503	SO:0001583	missense			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067	90050	90050			20491	protein-coding gene	gene with protein product			chromosome 14 open reading frame 152	C14orf152	NA		Standard	NM_138344	NM_138344	NA	Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.223T>G	14.37:g.94394668T>G	ENSP00000267594:p.Phe75Val	NA	B2RD39|Q96GY1	37	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550636	0.86127	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000019	T	0.81559	0.4848	M	0.64404	1.975	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.83842	0.0258	10	0.87932	D	0	-15.2697	14.0621	0.64806	0.0:0.0:0.0:1.0	.	75	Q8N9Y4	F181A_HUMAN	V	13;75;13;13;64	ENSP00000451802:F13V;ENSP00000267594:F75V;ENSP00000451678:F13V;ENSP00000452393:F13V	ENSP00000267594:F75V	F	+	1	0	FAM181A	93464421	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.018000	0.88722	1.733000	0.51620	0.260000	0.18958	TTC	FAM181A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412840.1		+	ENST00000267594.5	Missense_Mutation	SNP	14 : 94394668 - 94394668 G PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	392	18
GCN1L1	10985	broad.mit.edu	37	12	120602186	120602186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:120602186G>A	ENST00000300648.6	-	18	1814	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	601					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGTCCGTGCGCCAGCTTAAA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,3930		0,0,1965	87	91	90		1802	5.8	1	12		90	1,8319		0,1,4159	no	missense	GCN1L1	NM_006836.1	64	0,1,6124	AA,AG,GG	NA	0.012,0.0,0.0082	benign	601/2672	120602186	1,12249	1965	4160	6125	SO:0001583	missense			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28				10985	10985			4199	protein-coding gene	gene with protein product		605614	GCN1 (general control of amino-acid synthesis 1, yeast)-like 1		NA	9234705	Standard		NM_006836	NA	Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1802C>T	12.37:g.120602186G>A	ENSP00000300648:p.Ala601Val	NA	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713573	0.68730	0.0	1.2E-4	ENSG00000089154	ENST00000300648	T	0.04654	3.58	5.83	5.83	0.93111	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.052807	0.85682	D	0.000000	T	0.05640	0.0148	L	0.49455	1.56	0.80722	D	1	B	0.29766	0.256	B	0.25291	0.059	T	0.39187	-0.9626	10	0.12103	T	0.63	.	13.3273	0.60467	0.0717:0.0:0.9283:0.0	.	601	Q92616	GCN1L_HUMAN	V	601	ENSP00000300648:A601V	ENSP00000300648:A601V	A	-	2	0	GCN1L1	119086569	1.000000	0.71417	0.965000	0.40720	0.937000	0.57800	7.375000	0.79646	2.769000	0.95229	0.655000	0.94253	GCG	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403592.1		-	ENST00000300648.6	Missense_Mutation	SNP	12 : 120602186 - 120602186 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	639	6
GLB1L	79411	broad.mit.edu	37	2	220104663	220104663	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:220104663T>G	ENST00000295759.7	-	7	1013	c.700A>C	c.(700-702)Acc>Ccc	p.T234P	GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000497855.1_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.T234P|GLB1L_ENST00000409640.1_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	234					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTACAGTGGTATAGAGTCCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	114	110			NA	NA	2		NA											NA				220104663		2203	4300	6503	SO:0001583	missense				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521	79411	79411			28129	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_024506	XM_005246850	NA	Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.700A>C	2.37:g.220104663T>G	ENSP00000295759:p.Thr234Pro	NA	Q96DR0	37	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304575	0.60305	.	.	ENSG00000163521	ENST00000295759;ENST00000392089	D;D	0.97924	-4.61;-4.61	5.37	1.38	0.22167	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.331520	0.36034	N	0.002831	D	0.92169	0.7517	N	0.15975	0.35	0.80722	D	1	B	0.23185	0.081	B	0.28991	0.097	D	0.84745	0.0753	10	0.33940	T	0.23	-4.5903	5.7925	0.18369	0.127:0.2293:0.0:0.6437	.	234	Q6UWU2	GLB1L_HUMAN	P	234	ENSP00000295759:T234P;ENSP00000375939:T234P	ENSP00000295759:T234P	T	-	1	0	GLB1L	219812907	0.814000	0.29104	0.987000	0.45799	0.988000	0.76386	1.378000	0.34328	0.461000	0.27071	0.528000	0.53228	ACC	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256822.2		-	ENST00000295759.7	Missense_Mutation	SNP	2 : 220104663 - 220104663 G PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	1067	75
GLI2	2736	broad.mit.edu	37	2	121736059	121736059	+	Missense_Mutation	SNP	G	G	A	rs150170739		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:121736059G>A	ENST00000452319.1	+	10	1478	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	GLI2_ENST00000314490.11_Missense_Mutation_p.R145H|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R473H			P10070	GLI2_HUMAN	GLI family zinc finger 2	473					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTTGTGTGCCGCTGGCAGGCC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	138	131	133		1418	4	1	2	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GLI2	NM_005270.4	29	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging	473/1587	121736059	2,13004	2203	4300	6503	SO:0001583	missense				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047	2736	2736		Zinc fingers, C2H2-type	4318	protein-coding gene	gene with protein product	tax-responsive element-2 holding protein, tax helper protein 1, tax helper protein 2	165230	GLI-Kruppel family member GLI2, glioma-associated oncogene family zinc finger 2		NA	2850480, 9557682	Standard	NM_005270	NM_005270	NA	Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1418G>A	2.37:g.121736059G>A	ENSP00000390436:p.Arg473His	NA	O60252|O60253|O60254|O60255|Q15590|Q15591|Q4JHT4	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234684	0.58886	2.27E-4	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.91792	-2.91;-2.91;-2.91	4.03	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.115971	0.64402	D	0.000011	D	0.92463	0.7607	N	0.25890	0.77	0.80722	D	1	B;D;D;B;B	0.89917	0.188;1.0;0.983;0.301;0.054	B;D;P;B;B	0.80764	0.035;0.994;0.599;0.052;0.04	D	0.91007	0.4847	10	0.26408	T	0.33	.	16.6998	0.85346	0.0:0.0:1.0:0.0	.	473;456;128;128;145	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	H	473;473;145	ENSP00000390436:R473H;ENSP00000354586:R473H;ENSP00000312694:R145H	ENSP00000312694:R145H	R	+	2	0	GLI2	121452529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.714000	0.84703	2.249000	0.74217	0.491000	0.48974	CGC	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332293.3		+	ENST00000452319.1	Missense_Mutation	SNP	2 : 121736059 - 121736059 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	855	8
GLTSCR2	29997	broad.mit.edu	37	19	48248871	48248871	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:48248871G>A	ENST00000246802.5	+	1	93	c.55G>A	c.(55-57)Gat>Aat	p.D19N	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	19						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		AAGCGATGCCGATTCTGGTTT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(58;613 1041 9473 10089 15241)							NA				0													81	92	88			NA	NA	19		NA											NA				48248871		2203	4300	6503	SO:0001583	missense			AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373	29997	29997			4333	protein-coding gene	gene with protein product		605691			NA	10708517, 16971513, 17657248	Standard	NM_015710	NM_015710	NA	Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.55G>A	19.37:g.48248871G>A	ENSP00000246802:p.Asp19Asn	NA	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	37	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728740	0.48833	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.33865	1.39	4.55	2.37	0.29283	.	0.288040	0.34088	N	0.004263	T	0.20129	0.0484	L	0.34521	1.04	0.09310	N	1	D;D;D	0.52996	0.957;0.957;0.957	B;B;B	0.34301	0.179;0.179;0.179	T	0.16394	-1.0404	10	0.62326	D	0.03	-7.8529	7.5527	0.27806	0.2055:0.0:0.7945:0.0	.	19;19;17	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	N	19	ENSP00000246802:D19N	ENSP00000246802:D19N	D	+	1	0	GLTSCR2	52940683	0.391000	0.25221	0.016000	0.15963	0.050000	0.14768	0.829000	0.27449	0.454000	0.26884	0.655000	0.94253	GAT	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464870.1		+	ENST00000246802.5	Missense_Mutation	SNP	19 : 48248871 - 48248871 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	833	6
GPR162	27239	broad.mit.edu	37	12	6933844	6933844	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:6933844G>A	ENST00000428545.2	+	3	493				GPR162_ENST00000311268.3_Silent_p.S260S|GPR162_ENST00000382315.3_Intron	NM_014449.1	NP_055264.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	NA						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGGATGGCTCGGAGTCTGCCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	55	54			NA	NA	12		NA											NA				6933844		2203	4300	6503	SO:0001627	intron_variant			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21					27239	27239		GPCR / Class A : Orphans	16693	protein-coding gene	gene with protein product					NA	15777626	Standard	NM_019858	NM_014449	NA	Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000428545.2:c.16-805G>A	12.37:g.6933844G>A		NA	Q16664|Q59EH5|Q66K56	37	CCDS44819.1																																																																																			GPR162-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399480.1		+	ENST00000428545.2	Intron	SNP	12 : 6933844 - 6933844 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	346	24
GPR84	53831	broad.mit.edu	37	12	54756512	54756512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:54756512C>T	ENST00000551809.1	-	1	1759	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R375H			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	375						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCGGAATTGGCGGTTCATGGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	174	167			NA	NA	12		NA											NA				54756512		2203	4300	6503	SO:0001583	missense			AF237762	CCDS8878.1	12q13.13	2012-08-20					NA	53831		GPCR / Class A : Fatty acid receptors	4535	protein-coding gene	gene with protein product		606383			NA	11273702	Standard		NM_020370	NA	Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1124G>A	12.37:g.54756512C>T	ENSP00000450310:p.Arg375His	NA	B6V9G7	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317270	0.81469	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.39592	1.07;1.07	5.43	4.54	0.55810	.	0.000000	0.64402	D	0.000001	T	0.49779	0.1577	M	0.77406	2.37	0.53688	D	0.999971	D	0.64830	0.994	P	0.47528	0.549	T	0.54715	-0.8252	10	0.42905	T	0.14	-7.4502	12.1512	0.54051	0.0:0.9163:0.0:0.0837	.	375	Q9NQS5	GPR84_HUMAN	H	375	ENSP00000267015:R375H;ENSP00000450310:R375H	ENSP00000267015:R375H	R	-	2	0	GPR84	53042779	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.314000	0.65804	1.437000	0.47472	0.655000	0.94253	CGC	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406156.1		-	ENST00000551809.1	Missense_Mutation	SNP	12 : 54756512 - 54756512 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	1316	7
GRIN2B	2904	broad.mit.edu	37	12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTCTTGGCCGTGCGCAGCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	142	146			NA	NA	12		NA											NA				13717461		2203	4300	6503	SO:0001583	missense				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079		2904	2904		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4586	protein-coding gene	gene with protein product		138252		NMDAR2B	NA	1350383	Standard		NM_000834	NA	Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met	NA	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268014.2		-	ENST00000609686.1	Missense_Mutation	SNP	12 : 13717461 - 13717461 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	931	8
HEXIM1	10614	broad.mit.edu	37	17	43227456	43227456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:43227456G>A	ENST00000332499.2	+	1	2773	c.899G>A	c.(898-900)cGc>cAc	p.R300H		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	300	Mediates interaction with CCNT1.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCCTCTCGCGCATGGAGGAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	67	64			NA	NA	17		NA											NA				43227456		2203	4300	6503	SO:0001583	missense			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834	10614	10614			24953	protein-coding gene	gene with protein product		607328			NA	12119119, 12832472	Standard	NM_006460	NM_006460	NA	Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.899G>A	17.37:g.43227456G>A	ENSP00000328773:p.Arg300His	NA	B2R8Y5	37	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923812	0.92319	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.62723	1.935	0.58432	D	0.999996	D	0.76494	0.999	D	0.79784	0.993	T	0.79266	-0.1874	9	0.72032	D	0.01	-12.0662	15.8819	0.79211	0.0:0.0:1.0:0.0	.	300	O94992	HEXI1_HUMAN	H	300	.	ENSP00000328773:R300H	R	+	2	0	HEXIM1	40583239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.488000	0.97947	2.338000	0.79540	0.561000	0.74099	CGC	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449821.2		+	ENST00000332499.2	Missense_Mutation	SNP	17 : 43227456 - 43227456 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	570	6
KCNH8	131096	broad.mit.edu	37	3	19436644	19436644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:19436644C>T	ENST00000328405.2	+	7	1284	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	KCNH8_ENST00000537696.1_5'UTR|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	340						integral to membrane	two-component sensor activity	p.R340C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCGTCTTTTGCGTCTGCTGCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(124;1625 1765 8018 24930 42026)							NA				1	Substitution - Missense(1)	lung(1)											196	162	174			NA	NA	3		NA											NA				19436644		2203	4300	6503	SO:0001583	missense			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960	131096	131096		Potassium channels, Voltage-gated ion channels / Potassium channels	18864	protein-coding gene	gene with protein product		608260			NA	16382104	Standard	NM_144633	NM_144633	NA	Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1018C>T	3.37:g.19436644C>T	ENSP00000328813:p.Arg340Cys	NA	Q59GQ6	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672024	0.88348	.	.	ENSG00000183960	ENST00000328405	D	0.99523	-6.08	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.32416	U	0.006131	D	0.99722	0.9892	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97601	1.0123	9	.	.	.	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	340;340	B7Z398;Q96L42	.;KCNH8_HUMAN	C	340	ENSP00000328813:R340C	.	R	+	1	0	KCNH8	19411648	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	4.787000	0.62432	2.742000	0.94016	0.650000	0.86243	CGT	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252139.2		+	ENST00000328405.2	Missense_Mutation	SNP	3 : 19436644 - 19436644 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	532	5
KCTD18	130535	broad.mit.edu	37	2	201354855	201354855	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:201354855G>A	ENST00000359878.3	-	7	1759	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	KCTD18_ENST00000409157.1_Missense_Mutation_p.R417W	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	417						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TTCTCAGTCCGCACTCCCAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	53	52			NA	NA	2		NA											NA				201354855		2203	4300	6503	SO:0001583	missense			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729	130535	130535			26446	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 18		NA		Standard	NM_152387	NM_152387	NA	Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1249C>T	2.37:g.201354855G>A	ENSP00000352941:p.Arg417Trp	NA	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	37	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121811	0.20877	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.35789	1.29;1.29	5.04	2.02	0.26589	.	1.373990	0.04721	N	0.419262	T	0.17492	0.0420	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17868	-1.0355	10	0.41790	T	0.15	2.0253	4.1114	0.10060	0.2142:0.1959:0.5899:0.0	.	417	Q6PI47	KCD18_HUMAN	W	417	ENSP00000352941:R417W;ENSP00000386751:R417W	ENSP00000352941:R417W	R	-	1	2	KCTD18	201063100	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.283000	0.08433	0.715000	0.32103	0.650000	0.86243	CGG	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256188.1		-	ENST00000359878.3	Missense_Mutation	SNP	2 : 201354855 - 201354855 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	215	4
KIAA0430	9665	broad.mit.edu	37	16	15729930	15729930	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:15729930C>T	ENST00000540441.2	-	3	478	c.414G>A	c.(412-414)tcG>tcA	p.S138S	KIAA0430_ENST00000551742.1_Silent_p.S138S|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000548025.1_Silent_p.S138S|KIAA0430_ENST00000396368.3_Silent_p.S138S|KIAA0430_ENST00000602337.1_Silent_p.S138S			Q9Y4F3	LKAP_HUMAN	KIAA0430	137						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGTGCTTTGCGAGTCTAACA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	1,4165		0,1,2082	170	170	170		414,414,414	-6.8	0.8	16		170	0,8422		0,0,4211	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA0430	NM_001184998.1,NM_001184999.1,NM_014647.3	,,	0,1,6293	TT,TC,CC	NA	0.0,0.024,0.0079	,,	138/1743,138/1740,138/1743	15729930	1,12587	2083	4211	6294	SO:0001819	synonymous_variant			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783	9665	9665		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	29562	protein-coding gene	gene with protein product	limkain b1, protein phosphatase 1, regulatory subunit 34, meiosis arrest female 1	614593			NA	9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647	NM_014647	NA	Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000540441.2:c.414G>A	16.37:g.15729930C>T		NA	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|Q6P1R6|Q8WYR2|Q9Y4J9	37																																																																																				KIAA0430-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403737.1		-	ENST00000540441.2	Silent	SNP	16 : 15729930 - 15729930 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	745	7
KIAA1211	57482	broad.mit.edu	37	4	57180336	57180336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:57180336G>A	ENST00000504228.1	+	6	773	c.668G>A	c.(667-669)cGc>cAc	p.R223H	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R216H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R223H			Q6ZU35	K1211_HUMAN	KIAA1211	223	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGAGAAGACGCCAAGAAGAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	45	42			NA	NA	4		NA											NA				57180336		2035	4190	6225	SO:0001583	missense			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265	57482	57482			29219	protein-coding gene	gene with protein product					NA	10574462, 11230166	Standard	NM_020722	NM_020722	NA	Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.668G>A	4.37:g.57180336G>A	ENSP00000423366:p.Arg223His	NA	Q9NTE2|Q9NTP8|Q9ULK9	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	9.671	1.146801	0.21288	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12255	2.7;2.7;2.7	5.07	-0.161	0.13371	.	.	.	.	.	T	0.07683	0.0193	L	0.44542	1.39	0.09310	N	1	B;B;B	0.29612	0.251;0.022;0.022	B;B;B	0.20767	0.031;0.007;0.007	T	0.36553	-0.9743	9	0.17369	T	0.5	-5.3546	0.3015	0.00274	0.2693:0.1396:0.2867:0.3044	.	216;216;223	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	223;223;216;133	ENSP00000264229:R223H;ENSP00000423366:R223H;ENSP00000444006:R216H	ENSP00000264229:R223H	R	+	2	0	KIAA1211	56875093	0.000000	0.05858	0.160000	0.22671	0.856000	0.48823	0.263000	0.18478	0.225000	0.20959	0.561000	0.74099	CGC	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362097.2		+	ENST00000504228.1	Missense_Mutation	SNP	4 : 57180336 - 57180336 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	97	6
KLK11	11012	broad.mit.edu	37	19	51527499	51527499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:51527499C>T	ENST00000594768.1	-	4	546	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	KLK11_ENST00000391804.3_Missense_Mutation_p.A114T|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_Missense_Mutation_p.A89T|KLK11_ENST00000453757.3_Missense_Mutation_p.A89T	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	121	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GACTCAGTGGCTGTCCGGGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	98	101			NA	NA	19		NA											NA				51527499		2203	4300	6503	SO:0001583	missense			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757	11012	11012		Kallikreins, Serine peptidases / Serine peptidases	6359	protein-coding gene	gene with protein product		604434	kallikrein 11	PRSS20	NA	9765601, 10662548, 16800724, 16800723	Standard	NM_006853	NM_006853	NA	Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.361G>A	19.37:g.51527499C>T	ENSP00000473047:p.Ala121Thr	NA	O75837|Q9NS65	37	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	c	13.83	2.354005	0.41700	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.92965	-3.14;-3.14;-3.14	4.32	3.25	0.37280	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37906	U	0.001893	D	0.86531	0.5955	L	0.37897	1.145	0.30572	N	0.763413	B;B	0.29341	0.242;0.242	B;B	0.32393	0.145;0.145	D	0.83710	0.0187	10	0.72032	D	0.01	.	7.0907	0.25282	0.1979:0.6103:0.1918:0.0	.	121;114	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	T	114;89;89;121	ENSP00000375680:A114T;ENSP00000324269:A89T;ENSP00000413958:A89T	ENSP00000324269:A89T	A	-	1	0	KLK11	56219311	0.152000	0.22762	0.709000	0.30452	0.782000	0.44232	0.785000	0.26830	0.977000	0.38444	0.462000	0.41574	GCC	KLK11-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464314.2		-	ENST00000594768.1	Missense_Mutation	SNP	19 : 51527499 - 51527499 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	627	30
KRT80	144501	broad.mit.edu	37	12	52566851	52566851	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:52566851G>A	ENST00000313234.5	-	6	1025	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	KRT80_ENST00000394815.2_Missense_Mutation_p.R310W	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	310	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ATCTGGGACCGCAGCTTCTGG	0.637		NA											g	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9768	LOWCOV,EXOME	NA	NA	4e-04	SNP	GBM(178;2309 2916 15678 35873)							NA				0								T	TRP/ARG,TRP/ARG	0,4406		0,0,2203	51	50	50		928,928	1.2	0.3	12		50	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	KRT80	NM_001081492.1,NM_182507.2	101,101	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	310/423,310/453	52566851	1,13005	2203	4300	6503	SO:0001583	missense			BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767	144501	144501		-, Intermediate filaments type II, keratins (basic)	27056	protein-coding gene	gene with protein product		611161			NA	16831889	Standard	NM_182507	NM_001081492	NA	Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000313234.5:c.928C>T	12.37:g.52566851G>A	ENSP00000369361:p.Arg310Trp	NA	Q6P1A5|Q7Z3Q0	37	CCDS41784.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	g	14.10	2.434757	0.43224	0.0	1.16E-4	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.89270	-2.49;-2.49	4.39	1.24	0.21308	Filament (1);	0.000000	0.34725	N	0.003726	D	0.93726	0.7995	M	0.80422	2.495	0.19300	N	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.991;0.998	D	0.88202	0.2884	10	0.87932	D	0	.	14.4952	0.67683	0.0:0.0:0.5428:0.4572	.	310;310;345	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	W	310	ENSP00000369361:R310W;ENSP00000378292:R310W	ENSP00000369361:R310W	R	-	1	2	KRT80	50853118	0.000000	0.05858	0.287000	0.24848	0.492000	0.33523	0.185000	0.16958	0.577000	0.29470	-0.217000	0.12591	CGG	KRT80-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316756.1		-	ENST00000313234.5	Missense_Mutation	SNP	12 : 52566851 - 52566851 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	325	6
LAMB3	3914	broad.mit.edu	37	1	209800758	209800758	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:209800758C>T	ENST00000356082.4	-	12	1589	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P	LAMB3_ENST00000367030.3_Silent_p.P485P|LAMB3_ENST00000391911.1_Silent_p.P485P	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	485	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGAGTTGTGCGGGTCGCAGG	0.647		NA									OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	47	50			NA	NA	1		NA											NA				209800758		2203	4300	6503	SO:0001819	synonymous_variant			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878	3914	3914		Laminins	6490	protein-coding gene	gene with protein product		150310	laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))	LAMNB1	NA	8088808, 7774918	Standard	NM_000228	NM_001127641	NA	Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1455G>A	1.37:g.209800758C>T		2185	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	37	CCDS1487.1																																																																																			LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088525.2		-	ENST00000356082.4	Silent	SNP	1 : 209800758 - 209800758 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	248	5
LILRB2	10288	broad.mit.edu	37	19	54782813	54782813	+	Missense_Mutation	SNP	C	C	T	rs141001610	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:54782813C>T	ENST00000391748.1	-	6	936	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	270	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGCTGCCGGCCAGGGAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	58	57			NA	NA	19		NA											NA				54782813		2203	4300	6503	SO:0001583	missense			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042	NA	10288		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6606	protein-coding gene	gene with protein product		604815			NA	9151699, 9079806	Standard		XM_006722966	NA	Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391748.1:c.809G>A	19.37:g.54782813C>T	ENSP00000375628:p.Arg270Gln	NA	O75017|Q8NHJ7|Q8NHJ8	37	CCDS42612.1	.	.	.	.	.	.	.	.	.	.	T	5.569	0.289861	0.10567	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00686	5.85;5.85;5.85;5.85;5.85	1.81	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.309270	0.00911	N	0.002460	T	0.00384	0.0012	N	0.02658	-0.545	0.09310	N	1	B;B;B	0.18310	0.023;0.013;0.027	B;B;B	0.19391	0.011;0.011;0.025	T	0.41945	-0.9480	10	0.02654	T	1	.	1.7023	0.02875	0.2971:0.3746:0.0:0.3284	.	270;287;270	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	270;270;270;270;154	ENSP00000375628:R270Q;ENSP00000319960:R270Q;ENSP00000375629:R270Q;ENSP00000375626:R270Q;ENSP00000410117:R154Q	ENSP00000319960:R270Q	R	-	2	0	LILRB2	59474625	0.000000	0.05858	0.001000	0.08648	0.400000	0.30750	-2.978000	0.00664	-0.281000	0.09141	0.449000	0.29647	CGG	LILRB2-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139335.2		-	ENST00000391748.1	Missense_Mutation	SNP	19 : 54782813 - 54782813 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	424	7
LINGO1	84894	broad.mit.edu	37	15	77907604	77907604	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:77907604G>A	ENST00000355300.6	-	2	819	c.645C>T	c.(643-645)caC>caT	p.H215H	LINGO1_ENST00000561030.1_Silent_p.H209H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	215					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGATGAGGCCGTGCAGGTGGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4354		0,0,2177	108	117	114		645	3.6	1	15		114	1,8549		0,1,4274	no	coding-synonymous	LINGO1	NM_032808.5		0,1,6451	AA,AG,GG	NA	0.0117,0.0,0.0077		215/621	77907604	1,12903	2177	4275	6452	SO:0001819	synonymous_variant			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783	84894	84894		Immunoglobulin superfamily / I-set domain containing	21205	protein-coding gene	gene with protein product		609791	leucine rich repeat neuronal 6A	LRRN6A	NA	14686891	Standard	NM_032808	XM_006720723	NA	Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.645C>T	15.37:g.77907604G>A		NA	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	37	CCDS45313.1																																																																																			LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419546.1		-	ENST00000355300.6	Silent	SNP	15 : 77907604 - 77907604 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	522	5
MACF1	23499	broad.mit.edu	37	1	39833893	39833893	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:39833893C>T	ENST00000372915.3	+	49	12947	c.12860C>T	c.(12859-12861)tCt>tTt	p.S4287F	MACF1_ENST00000317713.7_Missense_Mutation_p.S2220F|MACF1_ENST00000539005.1_Missense_Mutation_p.S2220F|MACF1_ENST00000289893.4_Missense_Mutation_p.S2722F|MACF1_ENST00000545844.1_Missense_Mutation_p.S2220F|MACF1_ENST00000361689.2_Missense_Mutation_p.S2220F|MACF1_ENST00000564288.1_Missense_Mutation_p.S4282F|MACF1_ENST00000567887.1_Missense_Mutation_p.S4319F|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4287					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACTGAGCTCTTGTGGCTTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	115	117			NA	NA	1		NA											NA				39833893		2203	4300	6503	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12860C>T	1.37:g.39833893C>T	ENSP00000362006:p.Ser4287Phe	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.	.	.	.	.	.	.	.	.	.	C	22.8	4.340087	0.81911	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.65178	-0.11;1.23;-0.11;-0.14;0.03;1.0	5.85	3.83	0.44106	.	0.499782	0.18532	N	0.138463	T	0.72993	0.3530	L	0.53249	1.67	0.80722	D	1	D;B;P;B	0.76494	0.999;0.089;0.942;0.033	D;B;P;B	0.72982	0.979;0.052;0.708;0.03	T	0.73418	-0.3989	10	0.52906	T	0.07	.	12.4341	0.55590	0.1331:0.7388:0.1281:0.0	.	4287;2220;2220;2185	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	F	2220;4287;2220;2220;2220;2722	ENSP00000439537:S2220F;ENSP00000362006:S4287F;ENSP00000354573:S2220F;ENSP00000313438:S2220F;ENSP00000444364:S2220F;ENSP00000289893:S2722F	ENSP00000289893:S2722F	S	+	2	0	MACF1	39606480	0.979000	0.34478	0.995000	0.50966	0.977000	0.68977	1.987000	0.40687	1.418000	0.47098	0.467000	0.42956	TCT	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39833893 - 39833893 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	419	30
MAS1L	116511	broad.mit.edu	37	6	29454889	29454889	+	Missense_Mutation	SNP	G	G	A	rs145448286	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:29454889G>A	ENST00000377127.3	-	1	849	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	264						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTGCACCACCGCATAGACCCT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(153;755 1987 3859 11251 32945)							NA				0								G	VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	37	39	38		791	-3.7	0	6	dbSNP_134	38	0,8600		0,0,4300	yes	missense	MAS1L	NM_052967.1	64	0,5,6498	AA,AG,GG	NA	0.0,0.1135,0.0384	benign	264/379	29454889	5,13001	2203	4300	6503	SO:0001583	missense			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687	116511	116511		GPCR / Class A : Orphans	13961	protein-coding gene	gene with protein product		607235	MAS1 oncogene-like		NA		Standard	NM_052967	NM_052967	NA	Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.791C>T	6.37:g.29454889G>A	ENSP00000366331:p.Ala264Val	NA		37	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	2.332	-0.353156	0.05173	0.001135	0.0	ENSG00000204687	ENST00000377127	T	0.36340	1.26	2.23	-3.69	0.04450	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01592	0.0051	N	0.00510	-1.415	0.09310	N	1	B	0.25390	0.125	B	0.25291	0.059	T	0.32561	-0.9902	9	0.02654	T	1	.	3.4815	0.07603	0.5201:0.2028:0.2771:0.0	.	264	P35410	MAS1L_HUMAN	V	264	ENSP00000366331:A264V	ENSP00000366331:A264V	A	-	2	0	MAS1L	29562868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.366000	0.01078	-0.792000	0.04480	-0.451000	0.05528	GCG	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076126.2		-	ENST00000377127.3	Missense_Mutation	SNP	6 : 29454889 - 29454889 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	216	4
MKL1	57591	broad.mit.edu	37	22	40807886	40807886	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:40807886C>T	ENST00000402042.1	-	14	2750	c.2154G>A	c.(2152-2154)ccG>ccA	p.P718P	MKL1_ENST00000355630.3_Silent_p.P768P|MKL1_ENST00000407029.1_Silent_p.P768P|MKL1_ENST00000396617.3_Missense_Mutation_p.A772T	NM_001282661.1	NP_001269590.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	768	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCAGGGATGGCGGCTCCTTGA	0.532		NA	T	RBM15	acute megakaryocytic leukemia									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													97	107	103			NA	NA	22		NA											NA				40807886		2157	4183	6340	SO:0001819	synonymous_variant			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588	57591	57591			14334	protein-coding gene	gene with protein product	megakaryocytic acute leukemia, myocardin-related transcription factor A, basic, SAP and coiled-coil domain	606078			NA	11431691, 12019265, 14970199	Standard	NM_020831	XM_005261692	NA	Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000402042.1:c.2154G>A	22.37:g.40807886C>T		NA	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	37		.	.	.	.	.	.	.	.	.	.	C	13.43	2.235131	0.39498	.	.	ENSG00000196588	ENST00000396617	T	0.46451	0.87	4.92	-7.52	0.01341	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	8	0.54805	T	0.06	-2.7668	1.9139	0.03293	0.1882:0.3859:0.1944:0.2315	.	772	E7ER32	.	T	772	ENSP00000379861:A772T	ENSP00000379861:A772T	A	-	1	0	MKL1	39137832	0.000000	0.05858	0.090000	0.20809	0.761000	0.43186	-0.214000	0.09292	-0.755000	0.04709	-1.744000	0.00683	GCC	MKL1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321523.1		-	ENST00000402042.1	Silent	SNP	22 : 40807886 - 40807886 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	986	7
MRPS5	64969	broad.mit.edu	37	2	95767442	95767442	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:95767442G>A	ENST00000272418.2	-	8	998	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	264	S5 DRBM.				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCATCCATCCGATCAGTAGCT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4404		0,0,2202	50	48	49		790	4.4	0.3	2		49	1,8599		0,1,4299	no	missense	MRPS5	NM_031902.3	101	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	264/431	95767442	1,13003	2202	4300	6502	SO:0001583	missense			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029	64969	64969		Mitochondrial ribosomal proteins / small subunits	14498	protein-coding gene	gene with protein product	mitochondrial 28S ribosomal protein S5	611972			NA		Standard	NM_031902	NM_031902	NA	Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.790C>T	2.37:g.95767442G>A	ENSP00000272418:p.Arg264Trp	NA	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159629	0.38119	0.0	1.16E-4	ENSG00000144029	ENST00000272418	.	.	.	5.32	4.44	0.53790	Ribosomal protein S5, N-terminal, conserved site (1);Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.75447	2.3	0.58432	D	0.999997	D	0.67145	0.996	P	0.58970	0.849	T	0.69665	-0.5084	9	0.37606	T	0.19	-20.9735	11.6662	0.51374	0.0:0.0:0.8223:0.1777	.	264	P82675	RT05_HUMAN	W	264	.	ENSP00000272418:R264W	R	-	1	2	MRPS5	95131169	0.970000	0.33590	0.256000	0.24389	0.096000	0.18686	1.357000	0.34090	1.350000	0.45770	0.591000	0.81541	CGG	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252772.1		-	ENST00000272418.2	Missense_Mutation	SNP	2 : 95767442 - 95767442 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	140	9
NPTXR	23467	broad.mit.edu	37	22	39222607	39222607	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:39222607G>A	ENST00000333039.2	-	3	1119	c.996C>T	c.(994-996)acC>acT	p.T332T		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	332	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCCCTGGCCGGTGCCGCTGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(139;2521 3281 36965)							NA				0													72	68	69			NA	NA	22		NA											NA				39222607		2203	4300	6503	SO:0001819	synonymous_variant			AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890	23467	23467			7954	protein-coding gene	gene with protein product		609474			NA	16497176	Standard	NM_014293	NM_014293	NA	Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.996C>T	22.37:g.39222607G>A		NA		37	CCDS33647.1																																																																																			NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318194.2		-	ENST00000333039.2	Silent	SNP	22 : 39222607 - 39222607 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	486	5
NSD1	64324	broad.mit.edu	37	5	176562809	176562809	+	Silent	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176562809A>G	ENST00000511258.1	+	3	187				NSD1_ENST00000439151.2_Silent_p.T235T|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Silent_p.T235T			Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	NA					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGACTGAAACACAGAAAAATA	0.458		NA	T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													87	85	86			NA	NA	5		NA											NA				176562809		2203	4300	6503	SO:0001627	intron_variant	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671	64324	64324		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	14234	protein-coding gene	gene with protein product		606681	Sotos syndrome	STO	NA	9628876, 11896389	Standard	NM_172349	NM_022455	NA	Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000511258.1:c.31-133A>G	5.37:g.176562809A>G		NA	Q96PD8|Q96RN7	37																																																																																				NSD1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372609.1		+	ENST00000511258.1	Intron	SNP	5 : 176562809 - 176562809 G PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	283	25
NUP210	23225	broad.mit.edu	37	3	13377062	13377062	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:13377062G>A	ENST00000254508.5	-	28	3817	c.3735C>T	c.(3733-3735)ggC>ggT	p.G1245G		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1245					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTTTACCCGGCCGAGCACGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	78			NA	NA	3		NA											NA				13377062		2203	4300	6503	SO:0001819	synonymous_variant			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182	23225	23225			30052	protein-coding gene	gene with protein product		607703			NA	2184032, 7504063	Standard	NM_024923	NM_024923	NA	Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3735C>T	3.37:g.13377062G>A		NA	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	37	CCDS33704.1																																																																																			NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340085.1		-	ENST00000254508.5	Silent	SNP	3 : 13377062 - 13377062 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	359	35
OR10C1	442194	broad.mit.edu	37	6	29408019	29408019	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:29408019C>T	ENST00000444197.2	+	1	937	c.227C>T	c.(226-228)aCg>aTg	p.T76M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGTCTGTCACGGTCCCCCTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	143	150			NA	NA	6		NA											NA				29408019		1511	2709	4220	SO:0001583	missense				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474	442194	442194		GPCR / Class A : Olfactory receptors	8165	protein-coding gene	gene with protein product			olfactory receptor, family 10, subfamily C, member 2, olfactory receptor, family 10, subfamily C, member 1	OR10C2	NA		Standard		NM_013941	NA	Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.227C>T	6.37:g.29408019C>T	ENSP00000419119:p.Thr76Met	NA	Q5SUN7|Q96R18	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728727	0.15507	.	.	ENSG00000206474	ENST00000444197	T	0.00882	5.58	3.32	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001132	T	0.01940	0.0061	M	0.88570	2.965	0.09310	N	0.999996	D	0.69078	0.997	P	0.61722	0.893	T	0.38090	-0.9677	10	0.52906	T	0.07	.	6.6195	0.22796	0.0:0.8667:0.0:0.1333	.	76	Q96KK4	O10C1_HUMAN	M	76	ENSP00000419119:T76M	ENSP00000419119:T76M	T	+	2	0	OR10C1	29515998	0.000000	0.05858	0.287000	0.24848	0.043000	0.13939	-0.103000	0.10940	1.858000	0.53909	0.196000	0.17591	ACG	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076415.2		+	ENST00000444197.2	Missense_Mutation	SNP	6 : 29408019 - 29408019 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	611	43
OR5F1	338674	broad.mit.edu	37	11	55761879	55761879	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:55761879T>G	ENST00000278409.1	-	1	222	c.223A>C	c.(223-225)Act>Cct	p.T75P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGATGGTAGTTGAGTTACAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	61	62			NA	NA	11		NA											NA				55761879		2201	4296	6497	SO:0001583	missense			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133	338674	338674		GPCR / Class A : Olfactory receptors	8343	protein-coding gene	gene with protein product		608492			NA	9787077	Standard	NM_003697	NM_003697	NA	Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.223A>C	11.37:g.55761879T>G	ENSP00000278409:p.Thr75Pro	NA	Q495D1|Q6IFB9	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	T	9.452	1.090942	0.20471	.	.	ENSG00000149133	ENST00000278409	T	0.00402	7.56	3.03	0.33	0.15929	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.79926	2.475	0.09310	N	1	B	0.34226	0.443	B	0.32465	0.146	T	0.34900	-0.9810	9	0.87932	D	0	.	7.279	0.26300	0.4403:0.0:0.0:0.5596	.	75	O95221	OR5F1_HUMAN	P	75	ENSP00000278409:T75P	ENSP00000278409:T75P	T	-	1	0	OR5F1	55518455	0.006000	0.16342	0.036000	0.18154	0.077000	0.17291	0.070000	0.14573	-0.198000	0.10333	0.247000	0.18012	ACT	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391532.1		-	ENST00000278409.1	Missense_Mutation	SNP	11 : 55761879 - 55761879 G PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	343	37
PKN1	5585	broad.mit.edu	37	19	14581660	14581660	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:14581660C>T	ENST00000242783.6	+	21	2787	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F	PKN1_ENST00000342216.4_Silent_p.F880F	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	874	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AGCCCTTCTTCAGGGTGAGAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(185;2539 2965 10733 52867)							NA				0													84	100	95			NA	NA	19		NA											NA				14581660		2024	4174	6198	SO:0001819	synonymous_variant			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143	5585	5585			9405	protein-coding gene	gene with protein product		601032	protein kinase C-like 1	PRKCL1	NA	9570957	Standard	NM_002741, NM_213560	NM_002741	NA	Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2622C>T	19.37:g.14581660C>T		NA	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	37	CCDS42513.1																																																																																			PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095510.1		+	ENST00000242783.6	Silent	SNP	19 : 14581660 - 14581660 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	414	30
PLEC	5339	broad.mit.edu	37	8	144996470	144996470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:144996470G>A	ENST00000322810.4	-	32	8099	c.7930C>T	c.(7930-7932)Cgc>Tgc	p.R2644C	PLEC_ENST00000354958.2_Missense_Mutation_p.R2485C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2475C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2534C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2493C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2530C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2507C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2507C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2511C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2644	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGATGAAGCGCTCCCGCTGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	22	21			NA	NA	8		NA											NA				144996470		2164	4254	6418	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7930C>T	8.37:g.144996470G>A	ENSP00000323856:p.Arg2644Cys	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	10.43	1.349012	0.24426	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78595	-1.16;-1.16;-1.19;-1.19;-1.17;-1.16;-1.15;-1.16;-1.16	4.38	4.38	0.52667	.	0.100263	0.38720	U	0.001592	T	0.68979	0.3060	L	0.40543	1.245	0.50039	D	0.999843	D;D;D;D;D;D;D;D	0.60160	0.987;0.987;0.987;0.978;0.987;0.987;0.987;0.987	B;B;B;B;B;B;B;B	0.42882	0.401;0.401;0.401;0.226;0.401;0.401;0.401;0.401	T	0.73697	-0.3901	10	0.87932	D	0	.	10.1728	0.42920	0.0:0.0:0.6587:0.3413	.	2534;2493;2485;2644;2475;2507;2511;2507	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	2507;2511;2507;2475;2644;2485;2493;2534;2530	ENSP00000344848:R2507C;ENSP00000350277:R2511C;ENSP00000346602:R2507C;ENSP00000381756:R2475C;ENSP00000323856:R2644C;ENSP00000347044:R2485C;ENSP00000348702:R2493C;ENSP00000388180:R2534C;ENSP00000434583:R2530C	ENSP00000323856:R2644C	R	-	1	0	PLEC	145068458	0.964000	0.33143	0.950000	0.38849	0.712000	0.41017	2.523000	0.45580	2.289000	0.77006	0.443000	0.29094	CGC	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144996470 - 144996470 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	227	23
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	188	188			NA	NA	7		NA											NA				72398976		2203	4300	6503	SO:0001583	missense			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313	9883	9883		-	19702	protein-coding gene	gene with protein product		615753	POM121 membrane glycoprotein (rat), POM121 membrane glycoprotein		NA	8335683, 9734811, 17900573	Standard		NM_172020	NA	Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000395270.1:c.281A>G	7.37:g.72398976A>G	ENSP00000378687:p.Asn94Ser	NA	A6NFS9|A8CDT4|A8K933|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	37	CCDS59059.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT	POM121-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252020.1		+	ENST00000395270.1	Missense_Mutation	SNP	7 : 72398976 - 72398976 G PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	1020	9
PRPH2	5961	broad.mit.edu	37	6	42689575	42689575	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	166					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGTTGTTGCCGCAGCATTTGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	136	140			NA	NA	6		NA											NA				42689575		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619	5961	5961		Tetraspanins	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	retinal degeneration, slow (retinitis pigmentosa 7), retinal degeneration, slow	RP7, RDS	NA	1749427	Standard	NM_000322	NM_000322	NA	Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.498C>T	6.37:g.42689575G>A		NA	Q5TFH5|Q6DK65	37	CCDS4871.1																																																																																			PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040556.1		-	ENST00000230381.5	Silent	SNP	6 : 42689575 - 42689575 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	565	6
PSD	5662	broad.mit.edu	37	10	104164422	104164422	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:104164422G>A	ENST00000020673.5	-	15	3144	c.2618C>T	c.(2617-2619)gCg>gTg	p.A873V	PSD_ENST00000406432.1_Missense_Mutation_p.A873V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	873					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAAGGGGGGCGCAGAGAACAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	127	124			NA	NA	10		NA											NA				104164422		2203	4300	6503	SO:0001583	missense			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915	5662	5662		Pleckstrin homology (PH) domain containing	9507	protein-coding gene	gene with protein product		602327	pleckstrin and Sec7 domain protein		NA	9417912	Standard		NM_002779	NA	Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2618C>T	10.37:g.104164422G>A	ENSP00000020673:p.Ala873Val	NA	B1AKX7|D3DR87|Q15673|Q8IVG0	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293816	0.95546	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.23147	1.92;1.92	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.97;0.97;0.991	T	0.57219	-0.7849	10	0.87932	D	0	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	873;776;494	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	V	873;776;873	ENSP00000020673:A873V;ENSP00000384830:A873V	ENSP00000020673:A873V	A	-	2	0	PSD	104154412	1.000000	0.71417	0.993000	0.49108	0.884000	0.51177	9.630000	0.98420	2.627000	0.88993	0.555000	0.69702	GCG	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050041.2		-	ENST00000020673.5	Missense_Mutation	SNP	10 : 104164422 - 104164422 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	1154	7
QDPR	5860	broad.mit.edu	37	4	17488811	17488811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:17488811G>A	ENST00000508623.1	-	5	517	c.485C>T	c.(484-486)gCc>gTc	p.A162V	QDPR_ENST00000428702.2_Silent_p.S195S|QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000281243.5_Silent_p.S226S			P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	0					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	CCTGGATTAGGCTTCCTGAGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	141	148			NA	NA	4		NA											NA				17488811		2203	4300	6503	SO:0001583	missense			AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	5860	5860	1.5.1.34	Short chain dehydrogenase/reductase superfamily / Atypical members	9752	protein-coding gene	gene with protein product	6,7-dihydropteridine reductase, short chain dehydrogenase/reductase family 33C, member 1	612676			NA	19027726	Standard	NM_000320	NM_000320	NA	Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000508623.1:c.485C>T	4.37:g.17488811G>A	ENSP00000426377:p.Ala162Val	NA	A8K158|Q53F52|Q9H3M5	37		.	.	.	.	.	.	.	.	.	.	G	13.30	2.196879	0.38806	.	.	ENSG00000151552	ENST00000508623	D	0.92699	-3.09	5.29	3.56	0.40772	.	.	.	.	.	D	0.90648	0.7067	.	.	.	0.23260	N	0.998021	.	.	.	.	.	.	D	0.84350	0.0532	6	0.87932	D	0	-26.8617	5.9529	0.19257	0.3459:0.0:0.6541:0.0	.	.	.	.	V	162	ENSP00000426377:A162V	ENSP00000426377:A162V	A	-	2	0	QDPR	17097909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.824000	0.27379	1.237000	0.43756	0.650000	0.86243	GCC	QDPR-006	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000359709.1		-	ENST00000508623.1	Missense_Mutation	SNP	4 : 17488811 - 17488811 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	500	35
R3HDM4	91300	broad.mit.edu	37	19	902036	902036	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:902036G>A	ENST00000361574.5	-	2	239	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	R3HDM4_ENST00000587975.1_Missense_Mutation_p.R35W	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN	R3H domain containing 4	56						nucleus	nucleic acid binding				NA						TCTGAGTTCCGCACTGCCTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	85	87			NA	NA	19		NA											NA				902036		2203	4300	6503	SO:0001583	missense			BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858	91300	91300			28270	protein-coding gene	gene with protein product			chromosome 19 open reading frame 22	C19orf22	NA	12477932	Standard	NM_138774	NM_138774	NA	Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.166C>T	19.37:g.902036G>A	ENSP00000355385:p.Arg56Trp	NA		37	CCDS12048.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761642	0.49468	.	.	ENSG00000198858	ENST00000361574	.	.	.	4.66	-1.34	0.09143	.	0.000000	0.64402	U	0.000006	T	0.65091	0.2658	L	0.61218	1.895	0.51012	D	0.999903	P	0.51537	0.946	P	0.56514	0.8	T	0.70861	-0.4757	9	0.72032	D	0.01	-21.3311	14.4711	0.67517	0.0:0.0:0.5065:0.4935	.	56	Q96D70	CS022_HUMAN	W	56	.	ENSP00000355385:R56W	R	-	1	2	C19orf22	853036	1.000000	0.71417	0.932000	0.37286	0.153000	0.21895	4.107000	0.57811	0.044000	0.15775	-0.521000	0.04368	CGG	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458209.1		-	ENST00000361574.5	Missense_Mutation	SNP	19 : 902036 - 902036 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	631	6
RDX	5962	broad.mit.edu	37	11	110108327	110108327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:110108327G>A	ENST00000528498.1	-	11	1450	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.R245*|RDX_ENST00000343115.4_Nonsense_Mutation_p.R381*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R34*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R381*	NM_001260493.1	NP_001247422.1	P35241	RADI_HUMAN	radixin	381	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCTTTTGCTCGTTTTCGTTCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(55;25 1062 11040 28755 44273)							NA				0													181	172	175			NA	NA	11		NA											NA				110108327		2201	4298	6499	SO:0001587	stop_gained			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710	5962	5962			9944	protein-coding gene	gene with protein product		179410	deafness, autosomal recessive 24	DFNB24	NA	8486357, 17226784	Standard	NM_002906	NM_001260492	NA	Approved		uc031qdy.1	P35241		ENST00000528498.1:c.1141C>T	11.37:g.110108327G>A	ENSP00000432112:p.Arg381*	NA	Q86Y61	37	CCDS58174.1	.	.	.	.	.	.	.	.	.	.	G	41	8.898136	0.98994	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	.	.	.	5.78	4.84	0.62591	.	0.354723	0.25230	N	0.032165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	14.7001	0.69150	0.0:0.0:0.7205:0.2795	.	.	.	.	X	381;381;34;381;245;51	.	ENSP00000342830:R381X	R	-	1	2	RDX	109613537	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.566000	0.36396	1.364000	0.46038	0.650000	0.86243	CGA	RDX-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390531.1		-	ENST00000528498.1	Nonsense_Mutation	SNP	11 : 110108327 - 110108327 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	512	37
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	endometrium(6)											164	133	142			NA	NA	2		NA											NA				107049681		692	1590	2282	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107049681 - 107049681 C PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	844	6
RYR3	6263	broad.mit.edu	37	15	33795853	33795853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:33795853G>A	ENST00000389232.4	+	3	263	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	RYR3_ENST00000415757.3_Missense_Mutation_p.V65I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	65					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATCTCTGCGTCTGCAATTT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	57			NA	NA	15		NA											NA				33795853		1941	4151	6092	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.193G>A	15.37:g.33795853G>A	ENSP00000373884:p.Val65Ile	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	8.783	0.928601	0.18131	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98164	-4.76;-4.76	5.36	3.36	0.38483	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.069726	0.56097	D	0.000033	D	0.87811	0.6271	N	0.00436	-1.5	0.32828	D	0.503591	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	D	0.85323	0.1085	10	0.22706	T	0.39	.	5.095	0.14729	0.3515:0.0:0.6485:0.0	.	65;65	Q15413-2;Q15413	.;RYR3_HUMAN	I	65	ENSP00000373884:V65I;ENSP00000399610:V65I	ENSP00000354735:V65I	V	+	1	0	RYR3	31583145	0.998000	0.40836	0.994000	0.49952	0.995000	0.86356	2.728000	0.47319	1.479000	0.48272	0.655000	0.94253	GTC	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33795853 - 33795853 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	96	5
SAMSN1	64092	broad.mit.edu	37	21	15882757	15882757	+	Silent	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:15882757A>G	ENST00000285670.2	-	6	813	c.639T>C	c.(637-639)ggT>ggC	p.G213G	SAMSN1_ENST00000400566.1_Silent_p.G145G|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	145	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGTTACTTGTACCATCTGAAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	98	100			NA	NA	21		NA											NA				15882757		2075	4224	6299	SO:0001819	synonymous_variant			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307	64092	64092		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	10528	protein-coding gene	gene with protein product	nuclear localization signals, SAM and SH3 domain containing 1, SAM and SH3 domain containing 2, hematopoietic adapter-containing SH3 and sterile &				NA					NA									NA		NA																																																																																								NA									0	0
SEC16A	9919	broad.mit.edu	37	9	139360502	139360502	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:139360502G>A	ENST00000371706.3	-	6	3714	c.3681C>T	c.(3679-3681)taC>taT	p.Y1227Y	SEC16A_ENST00000290037.6_Silent_p.Y1227Y|SEC16A_ENST00000431893.2_Silent_p.Y1227Y|SEC16A_ENST00000313050.7_Silent_p.Y1405Y			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1227	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTAGGTGCCGTAGGCAAAAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4064		0,0,2032	53	65	61		4215	-0.3	0.1	9		61	2,8408		0,2,4203	no	coding-synonymous	SEC16A	NM_014866.1		0,2,6235	AA,AG,GG	NA	0.0238,0.0,0.016		1405/2358	139360502	2,12472	2032	4205	6237	SO:0001819	synonymous_variant			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396	9919	9919			29006	protein-coding gene	gene with protein product		612854	KIAA0310	KIAA0310	NA	9205841	Standard	XM_088459	NM_014866	NA	Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3681C>T	9.37:g.139360502G>A		NA	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	37		.	.	.	.	.	.	.	.	.	.	G	0.575	-0.839346	0.02692	0.0	2.38E-4	ENSG00000148396	ENST00000433860	.	.	.	5.76	-0.351	0.12602	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51028	-0.8757	4	.	.	.	-24.8088	9.9193	0.41455	0.5084:0.0:0.4916:0.0	.	.	.	.	W	102	.	.	R	-	1	2	SEC16A	138480323	0.021000	0.18746	0.099000	0.21106	0.012000	0.07955	-0.799000	0.04560	0.080000	0.16959	-0.136000	0.14681	CGG	SEC16A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000055077.1		-	ENST00000371706.3	Silent	SNP	9 : 139360502 - 139360502 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	557	5
SF3B14	0	broad.mit.edu	37	2	24297040	24297040	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:24297040G>A	ENST00000233468.4	-	2	268	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN		19	RRM.				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACAATATCCGATTTACTTCA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	90			NA	NA	2		NA											NA				24297040		2203	4298	6501	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000233468.4:c.55C>T	2.37:g.24297040G>A	ENSP00000233468:p.Arg19Trp	NA		37	CCDS1707.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901228	0.72754	.	.	ENSG00000115128	ENST00000233468	T	0.36157	1.27	4.32	4.32	0.51571	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80708	-0.1262	10	0.87932	D	0	-7.637	12.7778	0.57459	0.0:0.0:0.8358:0.1642	.	19	Q9Y3B4	PM14_HUMAN	W	19	ENSP00000233468:R19W	ENSP00000233468:R19W	R	-	1	2	AC008073.5	24150544	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.084000	0.50143	2.351000	0.79841	0.467000	0.42956	CGG	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246826.1		-	ENST00000233468.4	Missense_Mutation	SNP	2 : 24297040 - 24297040 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	140	16
SH3PXD2A	9644	broad.mit.edu	37	10	105362124	105362124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:105362124A>G	ENST00000369774.4	-	15	3127	c.2851T>C	c.(2851-2853)Tcc>Ccc	p.S951P	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S786P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S818P|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S923P|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	951					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGAGGTTTGGAGGGGATGGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	69	71			NA	NA	10		NA											NA				105362124		2203	4300	6503	SO:0001583	missense			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957	9644	9644			23664	protein-coding gene	gene with protein product	five SH3 domains		SH3 multiple domains 1	SH3MD1	NA	9687503	Standard	NM_014631	XM_005270297	NA	Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2851T>C	10.37:g.105362124A>G	ENSP00000358789:p.Ser951Pro	NA	D3DR98|O43302|Q5TCZ2|Q5TDQ8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.20|14.20	2.463860|2.463860	0.43736|0.43736	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.61510	.|0.19;0.12;0.3;0.1	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.174508	.|0.52532	.|D	.|0.000077	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.59436|0.59436	1.845|1.845	0.53005|0.53005	D|D	0.999963|0.999963	.|P;P;P;P	.|0.47253	.|0.828;0.828;0.859;0.892	.|B;B;P;B	.|0.46026	.|0.237;0.42;0.501;0.319	T|T	0.54622|0.54622	-0.8266|-0.8266	5|10	.|0.30078	.|T	.|0.28	-14.3613|-14.3613	9.8768|9.8768	0.41209|0.41209	0.8072:0.0:0.0:0.1928|0.8072:0.0:0.0:0.1928	.|.	.|951;800;796;923	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	P|P	877|951;923;758;866;818;786	.|ENSP00000358789:S951P;ENSP00000348215:S923P;ENSP00000443663:S818P;ENSP00000441514:S786P	.|ENSP00000318135:S758P	L|S	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352114|105352114	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.444000|0.444000	0.32077|0.32077	5.893000|5.893000	0.69798|0.69798	1.892000|1.892000	0.54788|0.54788	0.454000|0.454000	0.30748|0.30748	CTC|TCC	SH3PXD2A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050178.1		-	ENST00000369774.4	Missense_Mutation	SNP	10 : 105362124 - 105362124 G PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	481	5
SHD	56961	broad.mit.edu	37	19	4283173	4283173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:4283173C>T	ENST00000543264.2	+	3	1989	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SHD_ENST00000599689.1_Missense_Mutation_p.R176W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	176										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGATGAACGGCCAGCAGA	0.567		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	0.001	SNP								NA				0													59	57	58			NA	NA	19		NA											NA				4283173		2203	4300	6503	SO:0001583	missense			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251	56961	56961		SH2 domain containing	30633	protein-coding gene	gene with protein product		610481			NA	9315092	Standard	NM_020209	NM_020209	NA	Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.526C>T	19.37:g.4283173C>T	ENSP00000446058:p.Arg176Trp	NA	Q96NC2	37	CCDS12125.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.6	4.175397	0.78564	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.35973	1.28	5.47	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.80332	2.49	0.42300	D	0.992177	D	0.89917	1.0	D	0.76071	0.987	T	0.63346	-0.6658	10	0.87932	D	0	-10.4695	11.5411	0.50667	0.4875:0.5125:0.0:0.0	.	176	Q96IW2	SHD_HUMAN	W	176;91	ENSP00000446058:R176W	ENSP00000221852:R91W	R	+	1	2	SHD	4234173	0.997000	0.39634	0.968000	0.41197	0.970000	0.65996	0.914000	0.28624	0.607000	0.29982	0.448000	0.29417	CGG	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458082.1		+	ENST00000543264.2	Missense_Mutation	SNP	19 : 4283173 - 4283173 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	407	29
SLC5A3	6526	broad.mit.edu	37	21	35468701	35468701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:35468701G>A	ENST00000381151.3	+	2	1716	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	SLC5A3_ENST00000608209.1_Missense_Mutation_p.A402T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	402						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						CCGCAAGAGCGCAAGCTCCCG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	81	84			NA	NA	21		NA											NA				35468701		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.1204G>A	21.37:g.35468701G>A	ENSP00000370543:p.Ala402Thr	NA	O43489	37	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122917	0.77436	.	.	ENSG00000198743	ENST00000381151	D	0.89196	-2.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94516	0.7723	10	0.87932	D	0	.	18.5913	0.91214	0.0:0.0:1.0:0.0	.	402	P53794	SC5A3_HUMAN	T	402	ENSP00000370543:A402T	ENSP00000370543:A402T	A	+	1	0	SLC5A3	34390571	1.000000	0.71417	0.584000	0.28653	0.979000	0.70002	7.792000	0.85828	2.677000	0.91161	0.655000	0.94253	GCA	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141037.1		+	ENST00000381151.3	Missense_Mutation	SNP	21 : 35468701 - 35468701 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	363	5
SLCO1B3	28234	broad.mit.edu	37	12	21015401	21015401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:21015401G>A	ENST00000381545.3	+	7	756	c.537G>A	c.(535-537)atG>atA	p.M179I	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M179I|LST3_ENST00000540229.1_Missense_Mutation_p.M179I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M179I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	179					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGGGGAATATGCTTCGTGGCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	174	175			NA	NA	12		NA											NA				21015401		2203	4300	6503	SO:0001583	missense				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700	28234	28234		Solute carriers	10961	protein-coding gene	gene with protein product		605495	solute carrier family 21 (organic anion transporter), member 8	SLC21A8	NA		Standard	NM_019844	NM_019844	NA	Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.537G>A	12.37:g.21015401G>A	ENSP00000370956:p.Met179Ile	NA		37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	3.439	-0.114546	0.06881	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.79141	0.46;0.46;0.46;0.46;-1.24;0.46	3.9	2.92	0.33932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.346611	0.35124	N	0.003433	T	0.52964	0.1767	N	0.11000	0.08	0.80722	D	1	B;B;B	0.28933	0.228;0.007;0.007	B;B;B	0.30316	0.114;0.028;0.028	T	0.44205	-0.9343	10	0.17832	T	0.49	.	5.0501	0.14503	0.0946:0.1553:0.6118:0.1383	.	179;179;179	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	I	179;179;179;179;3;179	ENSP00000442000:M179I;ENSP00000261196:M179I;ENSP00000370956:M179I;ENSP00000451758:M179I;ENSP00000443225:M3I;ENSP00000441269:M179I	ENSP00000441269:M179I	M	+	3	0	SLCO1B3;RP11-545J16.1	20906668	0.979000	0.34478	1.000000	0.80357	0.081000	0.17604	0.414000	0.21164	1.732000	0.51606	0.460000	0.39030	ATG	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401936.1		+	ENST00000381545.3	Missense_Mutation	SNP	12 : 21015401 - 21015401 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	596	34
SMARCA4	6597	broad.mit.edu	37	19	11143994	11143994	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:11143994G>A	ENST00000429416.3	+	27	3856	c.3575G>A	c.(3574-3576)cGc>cAc	p.R1192H	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGCCCACCGCATCGGGCAG	0.612		NA	F, N, Mis		NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19p13.2	6597	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		E	1	Unknown(1)	lung(1)											63	62	62			NA	NA	19		NA											NA				11143994		2203	4300	6503	SO:0001583	missense			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616	6597	6597			11100	protein-coding gene	gene with protein product	SNF2-like 4, global transcription activator homologous sequence, sucrose nonfermenting-like 4, mitotic growth and transcription activator, BRM/SWI2-related gene 1, homeotic gene regulator, nuclear protein GRB1, brahma protein-like 1, ATP-dependent helicase SMARCA4	603254		SNF2L4	NA	8208605	Standard	NM_003072	NM_003072	NA	Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3575G>A	19.37:g.11143994G>A	ENSP00000395654:p.Arg1192His	NA	O95052|Q9HBD3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769759	0.90020	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.99863	4.86	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97804	1.0246	10	0.87932	D	0	-34.1151	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1192;1192;1192;1192;1192;412;1192	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	1192;1192;1256;1192;1192;1192;1192;1192	ENSP00000395654:R1192H;ENSP00000350720:R1192H;ENSP00000343896:R1192H;ENSP00000445036:R1192H;ENSP00000392837:R1192H;ENSP00000397783:R1192H;ENSP00000414727:R1192H	ENSP00000343896:R1192H	R	+	2	0	SMARCA4	11004994	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	CGC	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452638.2		+	ENST00000429416.3	Missense_Mutation	SNP	19 : 11143994 - 11143994 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	442	19
SOGA3	387104	broad.mit.edu	37	6	127796643	127796643	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:127796643G>A	ENST00000481848.2	-	6	3038	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	SOGA3_ENST00000525778.1_Missense_Mutation_p.A843V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A843V|SOGA3_ENST00000556132.1_Missense_Mutation_p.A843V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A843V|SOGA3_ENST00000474293.2_5'UTR			Q5TF21	CF174_HUMAN	SOGA family member 3	843						integral to membrane		p.A843V(1)			NA						GTAGATGCGCGCCTCGGTGAT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											89	102	97			NA	NA	6		NA											NA				127796643		2186	4281	6467	SO:0001583	missense			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338	387104	387104			21494	protein-coding gene	gene with protein product			chromosome 6 open reading frame 174	C6orf174	NA		Standard	NM_001012279	NM_001012279	NA	Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000481848.2:c.2528C>T	6.37:g.127796643G>A	ENSP00000455908:p.Ala843Val	NA		37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686804	0.88639	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	L	0.56769	1.78	0.80722	D	1	P	0.44006	0.824	B	0.38296	0.27	T	0.03706	-1.1011	10	0.42905	T	0.14	-14.9161	14.5446	0.68020	0.0701:0.0:0.9299:0.0	.	843	Q5TF21	CF174_HUMAN	V	843	ENSP00000451768:A843V;ENSP00000357251:A843V;ENSP00000434570:A843V;ENSP00000435559:A843V	ENSP00000435559:A843V	A	-	2	0	C6orf174	127838336	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	1.419000	0.47118	0.462000	0.41574	GCG	SOGA3-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000042149.3		-	ENST00000481848.2	Missense_Mutation	SNP	6 : 127796643 - 127796643 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	945	43
SPOCK1	6695	broad.mit.edu	37	5	136476343	136476343	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:136476343G>A	ENST00000394945.1	-	4	442	c.273C>T	c.(271-273)tgC>tgT	p.C91C	SPOCK1_ENST00000282223.7_Silent_p.C91C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	91					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGAGGGCTGCATTTTACCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	55	59			NA	NA	5		NA											NA				136476343		2203	4300	6503	SO:0001819	synonymous_variant			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377	6695	6695			11251	protein-coding gene	gene with protein product		602264	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)	TIC1, SPOCK	NA	9545645	Standard	NM_004598	NM_004598	NA	Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.273C>T	5.37:g.136476343G>A		NA	B3KSW3|Q59EW0|Q8N630|Q9UCL8	37	CCDS4191.1																																																																																			SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251222.1		-	ENST00000394945.1	Silent	SNP	5 : 136476343 - 136476343 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	154	5
SPRED1	161742	broad.mit.edu	37	15	38643373	38643373	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:38643373G>C	ENST00000299084.4	+	7	1703	c.843G>C	c.(841-843)caG>caC	p.Q281H		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	281	KBD.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCAGTATTCAGTTTTCTAAAC	0.398		NA							Legius syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(196;2146 2959 7698 16532)							NA				0													82	82	82			NA	NA	15		NA											NA				38643373		2200	4297	6497	SO:0001583	missense	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068	161742	161742			20249	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 147	609291			NA		Standard		NM_152594	NA	Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.843G>C	15.37:g.38643373G>C	ENSP00000299084:p.Gln281His	NA	B2RPJ8|Q05D53|Q8N256	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	0.672	-0.801388	0.02841	.	.	ENSG00000166068	ENST00000299084	D	0.84298	-1.83	5.97	-0.439	0.12264	c-Kit-binding domain (1);	0.734032	0.14484	N	0.316776	T	0.69205	0.3085	N	0.14661	0.345	0.21325	N	0.999728	B	0.02656	0.0	B	0.01281	0.0	T	0.52358	-0.8586	10	0.24483	T	0.36	-18.8552	9.1329	0.36857	0.2898:0.2295:0.4807:0.0	.	281	Q7Z699	SPRE1_HUMAN	H	281	ENSP00000299084:Q281H	ENSP00000299084:Q281H	Q	+	3	2	SPRED1	36430665	0.847000	0.29606	0.971000	0.41717	0.969000	0.65631	0.024000	0.13555	-0.315000	0.08703	-0.153000	0.13522	CAG	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418217.1		+	ENST00000299084.4	Missense_Mutation	SNP	15 : 38643373 - 38643373 C PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	395	40
STXBP5L	9515	broad.mit.edu	37	3	121097633	121097633	+	Silent	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:121097633C>T	ENST00000273666.6	+	22	2590	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	STXBP5L_ENST00000471454.1_Silent_p.A749A|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Silent_p.A773A|STXBP5L_ENST00000472879.1_Silent_p.A749A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	773					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTCTAGTGCCGATGTTTCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	56	57			NA	NA	3		NA											NA				121097633		1870	4105	5975	SO:0001819	synonymous_variant			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087	9515	9515		WD repeat domain containing	30757	protein-coding gene	gene with protein product		609381			NA	10231032, 14767561	Standard		NM_014980	NA	Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2319C>T	3.37:g.121097633C>T		NA	Q4G1B4|Q6PIC3	37	CCDS43137.1																																																																																			STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355256.3		+	ENST00000273666.6	Silent	SNP	3 : 121097633 - 121097633 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	195	9
SYTL2	54843	broad.mit.edu	37	11	85468696	85468696	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:85468696G>A	ENST00000316356.4	-	2	637	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Silent_p.L25L|SYTL2_ENST00000524452.1_Silent_p.L25L|SYTL2_ENST00000528231.1_Silent_p.L25L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	25	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCCCTCTTCAGAGCAGCATCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	243	242			NA	NA	11		NA											NA				85468696		2203	4299	6502	SO:0001819	synonymous_variant			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501	54843	54843			15585	protein-coding gene	gene with protein product	chromosome 11 synaptotagmin, breast cancer-associated antigen SGA-72M, protein phosphatase 1, regulatory subunit 151	612880			NA	10997877	Standard	NM_206927	XM_005274057	NA	Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000316356.4:c.73C>T	11.37:g.85468696G>A		NA	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	37	CCDS53689.1																																																																																			SYTL2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392191.1		-	ENST00000316356.4	Silent	SNP	11 : 85468696 - 85468696 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	1758	140
TARBP2	6895	broad.mit.edu	37	12	53898955	53898955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:53898955C>T	ENST00000552857.1	+	4	475				TARBP2_ENST00000266987.2_Missense_Mutation_p.A217V|TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V|TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V			Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	NA					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						AAGCGGAATGCGGCGGCCAAA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	118	122			NA	NA	12		NA											NA				53898955		2203	4300	6503	SO:0001627	intron_variant				CCDS8861.1, CCDS41791.1	12q13.13	2013-09-20	2007-06-26		ENSG00000139546	ENSG00000139546	6895	6895			11569	protein-coding gene	gene with protein product		605053	Tar (HIV-1) RNA binding protein 2		NA	2011739	Standard		NM_134323	NA	Approved		uc001sdt.3	Q15633	OTTHUMG00000169855	ENST00000552857.1:c.340+356C>T	12.37:g.53898955C>T		NA	Q12878|Q8WY32|Q8WY33|Q9BRY2	37		.	.	.	.	.	.	.	.	.	.	C	33	5.224601	0.95139	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	D;D;D	0.92495	-3.05;-3.05;-3.05	4.98	4.98	0.66077	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97636	1.0145	10	0.87932	D	0	-16.1595	17.5584	0.87900	0.0:1.0:0.0:0.0	.	217	Q15633	TRBP2_HUMAN	V	217;196;196	ENSP00000266987:A217V;ENSP00000416077:A196V;ENSP00000377885:A196V	ENSP00000266987:A217V	A	+	2	0	TARBP2	52185222	0.999000	0.42202	0.518000	0.27811	0.879000	0.50718	4.317000	0.59184	2.759000	0.94783	0.561000	0.74099	GCG	TARBP2-021	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000406280.1		+	ENST00000552857.1	Intron	SNP	12 : 53898955 - 53898955 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	618	5
TAS2R50	259296	broad.mit.edu	37	12	11138881	11138881	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:11138881T>C	ENST00000506868.1	-	1	630	c.579A>G	c.(577-579)atA>atG	p.I193M	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	193					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TCAGAAAAGATATCAGGGACA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	120	124			NA	NA	12		NA											NA				11138881		2203	4300	6503	SO:0001583	missense			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126	259296	259296		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	18882	protein-coding gene	gene with protein product		609627			NA	12379855, 12584440, 16175505	Standard	NM_176890	NM_176890	NA	Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.579A>G	12.37:g.11138881T>C	ENSP00000424040:p.Ile193Met	NA	P59545|Q2M255|Q645Y0	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770932	0.31320	.	.	ENSG00000212126	ENST00000506868	T	0.41065	1.01	2.19	-2.61	0.06171	.	2.272960	0.03713	U	0.250636	T	0.47432	0.1445	M	0.80028	2.48	0.09310	N	1	P	0.38535	0.635	B	0.42361	0.385	T	0.48980	-0.8986	10	0.72032	D	0.01	.	3.8053	0.08774	0.1852:0.0:0.3371:0.4777	.	193	P59544	T2R50_HUMAN	M	193	ENSP00000424040:I193M	ENSP00000424040:I193M	I	-	3	3	TAS2R50	11030148	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	-0.609000	0.05635	-0.349000	0.08274	0.260000	0.18958	ATA	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370192.2		-	ENST00000506868.1	Missense_Mutation	SNP	12 : 11138881 - 11138881 C PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	506	33
TET3	200424	broad.mit.edu	37	2	74317154	74317154	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:74317154G>A	ENST00000409262.3	+	5	2614	c.2614G>A	c.(2614-2616)Gca>Aca	p.A872T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	872							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTCCGCCTCGCAGGGGACAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	92	89			NA	NA	2		NA											NA				74317154		2056	4202	6258	SO:0001583	missense				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605	200424	200424			28313	protein-coding gene	gene with protein product		613555	tet oncogene family member 3		NA	9455477	Standard		XM_005264187	NA	Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2614G>A	2.37:g.74317154G>A	ENSP00000386869:p.Ala872Thr	NA	A6NEI3|Q86Z24|Q8TBM9	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	7.764	0.705976	0.15172	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.11821	2.74	5.3	1.27	0.21489	TET cysteine-rich domain (1);	0.536026	0.21571	N	0.072420	T	0.04182	0.0116	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.43163	-0.9408	10	0.06891	T	0.86	.	5.0566	0.14537	0.4494:0.1493:0.4013:0.0	.	872	O43151	TET3_HUMAN	T	872	ENSP00000386869:A872T	ENSP00000233310:A872T	A	+	1	0	TET3	74170662	0.023000	0.18921	0.016000	0.15963	0.975000	0.68041	0.734000	0.26101	0.331000	0.23511	0.655000	0.94253	GCA	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328141.4		+	ENST00000409262.3	Missense_Mutation	SNP	2 : 74317154 - 74317154 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	743	59
TMCO6	55374	broad.mit.edu	37	5	140023774	140023774	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:140023774G>A	ENST00000394671.3	+	10	1296	c.1195G>A	c.(1195-1197)Gta>Ata	p.V399I	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.V405I|TMCO6_ENST00000537378.1_Missense_Mutation_p.V159I	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	399					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGAGCGTAATGGTATG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ILE/VAL	0,4000		0,0,2000	230	219	223		1195	-2.5	0.6	5		223	1,8365		0,1,4182	no	missense	TMCO6	NM_018502.3	29	0,1,6182	AA,AG,GG	NA	0.012,0.0,0.0081	benign	399/494	140023774	1,12365	2000	4183	6183	SO:0001583	missense			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119	55374	55374			28814	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018502	XM_005268476	NA	Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1195G>A	5.37:g.140023774G>A	ENSP00000378166:p.Val399Ile	NA	Q9BUU0|Q9P198	37	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355472	0.24598	0.0	1.2E-4	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.62941	-0.01;-0.01;-0.01	5.66	-2.54	0.06307	Armadillo-like helical (1);Armadillo-type fold (1);	0.738080	0.12812	N	0.437062	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.24977	-1.0145	10	0.06625	T	0.88	1.034	3.6547	0.08217	0.4213:0.1005:0.3762:0.1019	.	405;399	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	I	399;159;405	ENSP00000378166:V399I;ENSP00000444474:V159I;ENSP00000252100:V405I	ENSP00000252100:V405I	V	+	1	0	TMCO6	140003958	0.001000	0.12720	0.606000	0.28943	0.959000	0.62525	-0.475000	0.06599	-0.410000	0.07542	-0.368000	0.07277	GTA	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251666.2		+	ENST00000394671.3	Missense_Mutation	SNP	5 : 140023774 - 140023774 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	821	6
TMPRSS11F	389208	broad.mit.edu	37	4	68995528	68995528	+	Splice_Site	SNP	G	G	A	rs142296401	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:68995528G>A	ENST00000356291.2	-	1	70	c.11C>T	c.(10-12)gCa>gTa	p.A4V		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	4			A -> T (in dbSNP:rs10030708).		proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAATACTTACGCGTACATCAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	129	111	117		11	3.5	0.9	4	dbSNP_134	117	0,8600		0,0,4300	yes	missense-near-splice	TMPRSS11F	NM_207407.2	64	0,7,6496	AA,AG,GG	NA	0.0,0.1589,0.0538	benign	4/439	68995528	7,12999	2203	4300	6503	SO:0001630	splice_region_variant			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092	389208	389208		Serine peptidases / Transmembrane	29994	protein-coding gene	gene with protein product					NA		Standard	NM_207407	NM_207407	NA	Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.11+1C>T	4.37:g.68995528G>A		NA	A8MXX2	37	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759073	0.31137	0.001589	0.0	ENSG00000198092	ENST00000356291	D	0.88509	-2.39	5.24	3.48	0.39840	.	1.880980	0.02227	N	0.064593	T	0.78748	0.4332	N	0.08118	0	0.34127	D	0.6648	P	0.48089	0.905	B	0.35770	0.21	T	0.70174	-0.4944	9	.	.	.	.	11.8719	0.52525	0.0:0.3399:0.6601:0.0	.	4	Q6ZWK6	TM11F_HUMAN	V	4	ENSP00000348639:A4V	.	A	-	2	0	TMPRSS11F	68678123	0.951000	0.32395	0.948000	0.38648	0.344000	0.29017	0.715000	0.25822	0.756000	0.33013	0.650000	0.86243	GCA	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251439.1	Missense_Mutation	-	ENST00000356291.2	Splice_Site	SNP	4 : 68995528 - 68995528 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	385	27
TNFRSF21	27242	broad.mit.edu	37	6	47253929	47253929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:47253929G>A	ENST00000296861.2	-	2	892	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	167					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGCTTACACCGCACATCCTCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													313	226	255			NA	NA	6		NA											NA				47253929		2203	4300	6503	SO:0001583	missense			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072	27242	27242		Tumor necrosis factor receptor superfamily, CD molecules	13469	protein-coding gene	gene with protein product	death receptor 6	605732			NA	9714541	Standard	NM_014452	NM_014452	NA	Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.499C>T	6.37:g.47253929G>A	ENSP00000296861:p.Arg167Trp	NA	B2RDI9|Q0D2P5|Q96D86	37	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668949	0.67814	.	.	ENSG00000146072	ENST00000296861	T	0.61742	0.08	5.54	4.61	0.57282	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.164121	0.49305	D	0.000156	T	0.65154	0.2664	M	0.72894	2.215	0.47214	D	0.999353	D	0.89917	1.0	P	0.62649	0.905	T	0.68108	-0.5496	10	0.72032	D	0.01	.	12.0809	0.53669	0.0:0.0:0.6729:0.327	.	167	O75509	TNR21_HUMAN	W	167	ENSP00000296861:R167W	ENSP00000296861:R167W	R	-	1	2	TNFRSF21	47361888	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.334000	0.43920	2.767000	0.95098	0.591000	0.81541	CGG	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040814.1		-	ENST00000296861.2	Missense_Mutation	SNP	6 : 47253929 - 47253929 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	622	8
TRO	7216	broad.mit.edu	37	X	54957327	54957327	+	Silent	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:54957327G>A	ENST00000173898.7	+	12	4282	c.4170G>A	c.(4168-4170)ccG>ccA	p.P1390P	TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.P921P|TRO_ENST00000375041.2_Silent_p.P993P	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1390	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCGGTGGACCGAGCACAGGAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	62			NA	NA	X		NA											NA				54957327		2044	4183	6227	SO:0001819	synonymous_variant			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445	7216	7216			12326	protein-coding gene	gene with protein product		300132			NA	9533028, 11454705	Standard	NM_016157	NM_001039705	NA	Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4170G>A	X.37:g.54957327G>A		NA	Q9NU89|Q9UPN8	37	CCDS43959.1																																																																																			TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056837.3		+	ENST00000173898.7	Silent	SNP	X : 54957327 - 54957327 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	545	28
TTC9	23508	broad.mit.edu	37	14	71134284	71134284	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:71134284G>T	ENST00000256367.2	+	2	753	c.410G>T	c.(409-411)tGc>tTc	p.C137F		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	137							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		TCCATAGCCTGCCTGCTCCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	14		NA											NA				71134284		1967	4178	6145	SO:0001583	missense			D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985		23508	23508		Tetratricopeptide (TTC) repeat domain containing	20267	protein-coding gene	gene with protein product		610488			NA		Standard	XM_027236	NM_015351	NA	Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.410G>T	14.37:g.71134284G>T	ENSP00000256367:p.Cys137Phe	NA	Q86WT2	37	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400773	0.62177	.	.	ENSG00000133985	ENST00000256367	T	0.17691	2.26	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.068925	0.64402	D	0.000014	T	0.51686	0.1689	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62353	-0.6872	10	0.87932	D	0	-15.8465	18.5279	0.90980	0.0:0.0:1.0:0.0	.	137	Q92623	TTC9A_HUMAN	F	137	ENSP00000256367:C137F	ENSP00000256367:C137F	C	+	2	0	TTC9	70204037	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	9.243000	0.95416	2.596000	0.87737	0.655000	0.94253	TGC	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417024.1		+	ENST00000256367.2	Missense_Mutation	SNP	14 : 71134284 - 71134284 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	228	12
TTN	7273	broad.mit.edu	37	2	179430536	179430536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:179430536C>T	ENST00000589042.1	-	326	80547	c.80323G>A	c.(80323-80325)Gtg>Atg	p.V26775M	TTN_ENST00000342992.6_Missense_Mutation_p.V24207M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V17710M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17835M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17902M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25134M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25134	Ig-like 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGCTTTCACGGCATCAACA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3993		0,1,1996	213	203	206		53128,72619,53503,53704	4.9	1	2		206	0,8366		0,0,4183	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,1,6179	TT,TC,CC	NA	0.0,0.025,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging	17710/26927,24207/33424,17835/27052,17902/27119	179430536	1,12359	1997	4183	6180	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.80323G>A	2.37:g.179430536C>T	ENSP00000467141:p.Val26775Met	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399923	0.25291	2.5E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.81	4.92	0.64577	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64170	0.2574	M	0.85197	2.74	0.35338	D	0.786241	D;D;D;D	0.67145	0.996;0.996;0.996;0.979	P;P;P;B	0.51324	0.666;0.666;0.666;0.397	T	0.77003	-0.2749	9	0.87932	D	0	.	8.7455	0.34583	0.1243:0.7408:0.0:0.1349	.	17710;17835;17902;25134	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	24207;17710;17902;17835;17708	ENSP00000343764:V24207M;ENSP00000434586:V17710M;ENSP00000340554:V17902M;ENSP00000352154:V17835M	ENSP00000340554:V17902M	V	-	1	0	TTN	179138782	0.982000	0.34865	0.987000	0.45799	0.977000	0.68977	2.631000	0.46502	1.436000	0.47453	0.555000	0.69702	GTG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179430536 - 179430536 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	947	6
WNT3A	89780	broad.mit.edu	37	1	228210456	228210456	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:228210456C>T	ENST00000284523.1	+	2	238	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R54C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	54					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CAAGCAGCTCCGCTTCTGCAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	51	52			NA	NA	1		NA											NA				228210456		2203	4300	6503	SO:0001583	missense			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342	89780	89780		Wingless-type MMTV integration sites, Endogenous ligands	15983	protein-coding gene	gene with protein product		606359			NA	11414706	Standard	NM_033131	NM_033131	NA	Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.160C>T	1.37:g.228210456C>T	ENSP00000284523:p.Arg54Cys	NA	Q3SY80|Q969P2	37	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803864	0.90623	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.77489	-1.1;-1.1	4.47	4.47	0.54385	.	0.068061	0.64402	D	0.000010	D	0.90573	0.7045	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	D	0.93130	0.6532	10	0.87932	D	0	.	16.9039	0.86120	0.0:1.0:0.0:0.0	.	54;54	P56704;Q3SY79	WNT3A_HUMAN;.	C	54	ENSP00000284523:R54C;ENSP00000355715:R54C	ENSP00000284523:R54C	R	+	1	0	WNT3A	226277079	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.534000	0.82004	2.311000	0.77944	0.586000	0.80456	CGC	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091648.1		+	ENST00000284523.1	Missense_Mutation	SNP	1 : 228210456 - 228210456 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	334	31
YTHDF1	54915	broad.mit.edu	37	20	61834082	61834082	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:61834082G>A	ENST00000370334.4	-	4	379				YTHDF1_ENST00000370333.4_Missense_Mutation_p.R354C|YTHDF1_ENST00000370339.3_Missense_Mutation_p.R404C			Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	NA										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTAATGGAGCGGTGGATGTCG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	85	89			NA	NA	20		NA											NA				61834082		2203	4300	6503	SO:0001627	intron_variant			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658	54915	54915			15867	protein-coding gene	gene with protein product			YTH domain family 1	C20orf21	NA		Standard	NM_017798	NM_017798	NA	Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370334.4:c.133-5996C>T	20.37:g.61834082G>A		NA	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.105768	0.77096	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.31769	1.48;1.48	4.72	4.72	0.59763	YTH domain (2);	0.047653	0.85682	N	0.000000	T	0.64438	0.2598	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74179	-0.3749	10	0.87932	D	0	-12.6731	18.0486	0.89341	0.0:0.0:1.0:0.0	.	404	Q9BYJ9	YTHD1_HUMAN	C	404;354	ENSP00000359364:R404C;ENSP00000359358:R354C	ENSP00000359358:R354C	R	-	1	0	YTHDF1	61304527	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	9.669000	0.98622	2.339000	0.79563	0.591000	0.81541	CGC	YTHDF1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000080111.2		-	ENST00000370334.4	Intron	SNP	20 : 61834082 - 61834082 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	551	37
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622		NA											G	1	5e-04	NA	NA	2184	NA	0.9995	,	,	NA	3e-04	0.0013	NA	NA	7e-04	0.8078	EXOME	NA	NA	2e-04	SNP								NA				0													123	114	117			NA	NA	17		NA											NA				74077738		2203	4300	6503	SO:0001583	missense			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919	353174	353174		Ligand-gated ion channels / Zinc activated channels	29504	protein-coding gene	gene with protein product		610935	ligand-gated ion channel, zinc activated 1	LGICZ1	NA	12381728, 16083862	Standard	NM_180990	NM_180990	NA	Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.782G>A	17.37:g.74077738G>A	ENSP00000334854:p.Arg261His	NA	Q2TB29|Q6ZWK3|Q86YW4	37	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347827.2		+	ENST00000334586.5	Missense_Mutation	SNP	17 : 74077738 - 74077738 A PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	683	6
ZNF845	91664	broad.mit.edu	37	19	53848784	53848784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53848784C>T	ENST00000595091.1	+	4	260	c.41C>T	c.(40-42)gCc>gTc	p.A14V	ZNF845_ENST00000458035.1_Missense_Mutation_p.A14V			Q96IR2	ZN845_HUMAN	zinc finger protein 845	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGGGATGTGGCCATAGAATTC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	87	89			NA	NA	19		NA											NA				53848784		692	1591	2283	SO:0001583	missense			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799	91664	91664		Zinc fingers, C2H2-type, -	25112	protein-coding gene	gene with protein product					NA		Standard	XM_039908	NM_138374	NA	Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.41C>T	19.37:g.53848784C>T	ENSP00000470005:p.Ala14Val	NA		37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632422	0.29068	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.03301	3.98	1.85	0.738	0.18319	Krueppel-associated box (4);	.	.	.	.	T	0.14527	0.0351	M	0.86864	2.845	0.21675	N	0.999596	D	0.59767	0.986	P	0.61070	0.883	T	0.05370	-1.0889	9	0.72032	D	0.01	.	6.185	0.20491	0.0:0.822:0.0:0.178	.	14	Q96IR2	ZN845_HUMAN	V	14	ENSP00000388311:A14V	ENSP00000352990:A14V	A	+	2	0	ZNF845	58540596	0.731000	0.28111	0.946000	0.38457	0.152000	0.21847	0.873000	0.28052	0.133000	0.18654	0.134000	0.15878	GCC	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464359.1		+	ENST00000595091.1	Missense_Mutation	SNP	19 : 53848784 - 53848784 T PAAD-TCGA-IB-A5SQ-Tumor-SM-4WPA6	808	40
