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
A4GNT	51146	broad.mit.edu	37	3	137849766	137849767	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:137849766_137849767insA	ENST00000236709.3	-	2	533_534	c.332_333insT	c.(331-333)atafs	p.I111fs		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	111					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AAACGTTGTCTATTGCTGACAG	0.421		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017	51146	51146			17968	protein-coding gene	gene with protein product					NA	10430883	Standard	NM_016161	NM_016161	NA	Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.333dupT	3.37:g.137849767_137849767dupA	ENSP00000236709:p.Ile111fs	NA	Q0VDK1|Q0VDK2	37	CCDS3097.1																																																																																			A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357557.1		-	ENST00000236709.3	Frame_Shift_Ins	INS	3 : 137849766 - 137849767 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	464	149
ACAN	176	broad.mit.edu	37	15	89382106	89382106	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr15:89382106C>T	ENST00000559004.1	+	3	341	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	ACAN_ENST00000561243.1_Missense_Mutation_p.R95W|ACAN_ENST00000352105.7_Missense_Mutation_p.R95W|ACAN_ENST00000558207.1_Missense_Mutation_p.R95W|ACAN_ENST00000439576.2_Missense_Mutation_p.R95W			E7EX88	E7EX88_HUMAN	aggrecan	95					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGGCGCGTGCGGGTCAACAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	159	151			NA	NA	15		NA											NA				89382106		2141	4264	6405	SO:0001583	missense			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766	176	176		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	319	protein-coding gene	gene with protein product	aggrecan proteoglycan	155760	chondroitin sulfate proteoglycan 1, aggrecan 1	MSK16, CSPG1, AGC1	NA	1985970	Standard	NM_001135	NM_013227	NA	Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000559004.1:c.283C>T	15.37:g.89382106C>T	ENSP00000453499:p.Arg95Trp	NA		37		.	.	.	.	.	.	.	.	.	.	C	14.01	2.407857	0.42715	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.66815	-0.23;-0.23	5.36	1.15	0.20763	.	.	.	.	.	T	0.81074	0.4747	M	0.79011	2.435	0.36546	D	0.871562	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.987;0.987;0.993	D	0.84991	0.0894	9	0.87932	D	0	-12.5802	16.4177	0.83748	0.4344:0.5656:0.0:0.0	.	95;95;95	E7ENV9;E7EX88;Q6PID9	.;.;.	W	95	ENSP00000387356:R95W;ENSP00000341615:R95W	ENSP00000268134:R95W	R	+	1	2	ACAN	87183110	0.998000	0.40836	0.860000	0.33809	0.768000	0.43524	0.886000	0.28241	-0.170000	0.10816	-1.378000	0.01179	CGG	ACAN-008	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000418839.1		+	ENST00000559004.1	Missense_Mutation	SNP	15 : 89382106 - 89382106 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	613	7
ADAMTSL1	92949	broad.mit.edu	37	9	18706844	18706844	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr9:18706844C>T	ENST00000276935.6	+	14	1674	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	ADAMTSL1_ENST00000380548.4_Silent_p.S558S			Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	558	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCTCAGTCCGTGGCTGACC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	43	46			NA	NA	9		NA											NA				18706844		2203	4300	6503	SO:0001819	synonymous_variant			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031	92949	92949		Immunoglobulin superfamily / I-set domain containing	14632	protein-coding gene	gene with protein product	punctin	609198	chromosome 9 open reading frame 94	C9orf94	NA	9628581, 11805097	Standard		NM_001040272	NA	Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000276935.6:c.1674C>T	9.37:g.18706844C>T		NA	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	37																																																																																				ADAMTSL1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051804.5		+	ENST00000276935.6	Silent	SNP	9 : 18706844 - 18706844 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	120	36
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Missense(5)	lung(3)|kidney(1)|endometrium(1)											109	106	107			NA	NA	2		NA											NA				112608394		2203	4300	6503	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112608394 - 112608394 C PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	509	5
ANKRD53	79998	broad.mit.edu	37	2	71211256	71211256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:71211256C>T	ENST00000441349.1	+	5	834	c.640C>T	c.(640-642)Caa>Taa	p.Q214*	ANKRD53_ENST00000272421.6_Nonsense_Mutation_p.Q303*|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000360589.3_Intron			Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	0										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TTTCCAGGGTCAAGGATGCAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	129	136			NA	NA	2		NA											NA				71211256		2203	4300	6503	SO:0001587	stop_gained			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031	79998	79998		Ankyrin repeat domain containing	25691	protein-coding gene	gene with protein product					NA		Standard	NM_024933	NM_024933	NA	Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000441349.1:c.640C>T	2.37:g.71211256C>T	ENSP00000388883:p.Gln214*	NA	Q8IYP8	37		.	.	.	.	.	.	.	.	.	.	C	24.3	4.514763	0.85389	.	.	ENSG00000144031	ENST00000272421;ENST00000441349	.	.	.	4.19	3.31	0.37934	.	.	.	.	.	.	.	.	.	.	.	0.21064	N	0.999793	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	10.2617	0.43430	0.0:0.7997:0.2003:0.0	.	.	.	.	X	303;214	.	ENSP00000272421:Q303X	Q	+	1	0	ANKRD53	71064764	0.000000	0.05858	0.068000	0.19968	0.129000	0.20672	-0.208000	0.09371	1.360000	0.45960	-0.257000	0.10917	CAA	ANKRD53-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000330273.2		+	ENST00000441349.1	Nonsense_Mutation	SNP	2 : 71211256 - 71211256 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	326	87
ARHGEF12	23365	broad.mit.edu	37	11	120348235	120348235	+	Splice_Site	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr11:120348235G>T	ENST00000397843.2	+	36	3698	c.3532G>T	c.(3532-3534)Gac>Tac	p.D1178Y	ARHGEF12_ENST00000532993.1_Splice_Site_p.D1075Y|ARHGEF12_ENST00000356641.3_Splice_Site_p.D1159Y	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1178					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GCAGAGTCCAGGTACACTCTT	0.413		NA	T	MLL	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													89	90	90			NA	NA	11		NA											NA				120348235		1900	4124	6024	SO:0001630	splice_region_variant			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914	23365	23365		Rho guanine nucleotide exchange factors	14193	protein-coding gene	gene with protein product		604763			NA	10681437, 9205841	Standard	NM_015313	NM_001198665	NA	Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3532+1G>T	11.37:g.120348235G>T		NA	O15086|Q6P526	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045601	0.75846	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.72505	-0.55;-0.66;-0.53	4.85	4.85	0.62838	.	0.141481	0.32357	N	0.006209	T	0.74794	0.3763	L	0.29908	0.895	0.46586	D	0.999111	D;D	0.71674	0.998;0.997	D;P	0.63192	0.912;0.819	T	0.77638	-0.2513	10	0.59425	D	0.04	-5.4223	16.4829	0.84162	0.0:0.0:1.0:0.0	.	1159;1178	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	Y	1178;1159;1075	ENSP00000380942:D1178Y;ENSP00000349056:D1159Y;ENSP00000432984:D1075Y	ENSP00000349056:D1159Y	D	+	1	0	ARHGEF12	119853445	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	5.638000	0.67861	2.392000	0.81423	0.585000	0.79938	GAC	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388052.1	Missense_Mutation	+	ENST00000397843.2	Splice_Site	SNP	11 : 120348235 - 120348235 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	271	80
ARID1B	57492	broad.mit.edu	37	6	157488191	157488191	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:157488191G>A	ENST00000346085.5	+	10	2898	c.2897G>A	c.(2896-2898)gGc>gAc	p.G966D	ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.G953D|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	953					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGTTTCCCCGGCATGAACCAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	206	209			NA	NA	6		NA											NA				157488191		2203	4296	6499	SO:0001583	missense			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618	57492	57492		-	18040	protein-coding gene	gene with protein product		614556			NA		Standard	NM_020732	NM_017519	NA	Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000346085.5:c.2897G>A	6.37:g.157488191G>A	ENSP00000344546:p.Gly966Asp	NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901677	0.52227	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.25250	4.67;4.65;4.75;4.74;4.44;2.16;1.81	5.64	4.72	0.59763	.	0.204799	0.51477	D	0.000092	T	0.10121	0.0248	N	0.22421	0.69	0.44668	D	0.997656	P;P;P;P	0.49783	0.928;0.791;0.763;0.879	B;B;B;P	0.44897	0.44;0.196;0.387;0.463	T	0.04140	-1.0974	10	0.28530	T	0.3	.	10.2908	0.43594	0.0:0.1331:0.6468:0.22	.	203;953;966;895	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	D	966;953;953;895;370;422;375;20	ENSP00000344546:G966D;ENSP00000055163:G953D;ENSP00000356116:G953D;ENSP00000275248:G895D;ENSP00000412835:G422D;ENSP00000313006:G375D;ENSP00000383596:G20D	ENSP00000275248:G895D	G	+	2	0	ARID1B	157529883	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	2.809000	0.47971	2.657000	0.90304	0.655000	0.94253	GGC	ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Missense_Mutation	SNP	6 : 157488191 - 157488191 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	746	6
B4GALNT1	2583	broad.mit.edu	37	12	58021575	58021575	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:58021575G>T	ENST00000418555.2	-	9	1152	c.1045C>A	c.(1045-1047)Ccc>Acc	p.P349T	B4GALNT1_ENST00000341156.4_Missense_Mutation_p.P404T			Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	404					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGGCGCCGGGCTCCACGCTC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	13	12			NA	NA	12		NA											NA				58021575		2169	4276	6445	SO:0001583	missense			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2583	2583	2.4.1.92	Beta 4-glycosyltransferases, Glycosyltransferase family 2 domain containing	4117	protein-coding gene	gene with protein product	GD2 synthase, GM2 synthase	601873	UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T), UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1, spastic paraplegia 26	GALGT, SPG26	NA	1601877, 23746551	Standard	NM_001478	NM_001478	NA	Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000418555.2:c.1045C>A	12.37:g.58021575G>T	ENSP00000401601:p.Pro349Thr	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.01|10.01	1.234514|1.234514	0.22626|0.22626	.|.	.|.	ENSG00000135454|ENSG00000135454	ENST00000341156;ENST00000418555|ENST00000547741	T;T|.	0.18338|.	2.22;2.26|.	4.5|4.5	2.54|2.54	0.30619|0.30619	Glycosyl transferase, family 2 (1);|.	0.499457|.	0.21274|.	N|.	0.077269|.	T|T	0.49474|0.49474	0.1559|0.1559	L|L	0.33753|0.33753	1.03|1.03	0.80722|0.80722	D|D	1|1	B;B|.	0.29805|.	0.126;0.257|.	B;B|.	0.28916|.	0.096;0.082|.	T|T	0.36114|0.36114	-0.9761|-0.9761	10|5	0.12430|.	T|.	0.62|.	-7.0386|-7.0386	8.8722|8.8722	0.35323|0.35323	0.0874:0.1505:0.7621:0.0|0.0874:0.1505:0.7621:0.0	.|.	349;404|.	B4DE26;Q00973|.	.;B4GN1_HUMAN|.	T|R	404;349|86	ENSP00000341562:P404T;ENSP00000401601:P349T|.	ENSP00000341562:P404T|.	P|S	-|-	1|3	0|2	B4GALNT1|B4GALNT1	56307842|56307842	0.097000|0.097000	0.21791|0.21791	0.942000|0.942000	0.38095|0.38095	0.968000|0.968000	0.65278|0.65278	0.656000|0.656000	0.24948|0.24948	1.063000|1.063000	0.40649|0.40649	0.462000|0.462000	0.41574|0.41574	CCC|AGC	B4GALNT1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407855.1		-	ENST00000418555.2	Missense_Mutation	SNP	12 : 58021575 - 58021575 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	77	22
BARHL2	343472	broad.mit.edu	37	1	91180182	91180182	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:91180182G>A	ENST00000370445.4	-	2	798	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	253						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TACTTCTGCCGCTCAAAGCTA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(199;3561 4100 22440)							NA				0													169	154	159			NA	NA	1		NA											NA				91180182		2203	4300	6503	SO:0001583	missense			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032	343472	343472		Homeoboxes / ANTP class : NKL subclass	954	protein-coding gene	gene with protein product		605212	BarH (Drosophila)-like 2		NA		Standard		NM_020063	NA	Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.757C>T	1.37:g.91180182G>A	ENSP00000359474:p.Arg253Trp	NA	A0AVP2|Q7Z4N7	37	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481732	0.63849	.	.	ENSG00000143032	ENST00000370445	D	0.96427	-4.01	5.48	4.55	0.56014	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.088225	0.53938	D	0.000059	D	0.97763	0.9266	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98465	1.0598	10	0.72032	D	0.01	.	14.0787	0.64907	0.0:0.0:0.848:0.1519	.	253	Q9NY43	BARH2_HUMAN	W	253	ENSP00000359474:R253W	ENSP00000359474:R253W	R	-	1	2	BARHL2	90952770	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.479000	0.35453	1.243000	0.43853	0.655000	0.94253	CGG	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027728.2		-	ENST00000370445.4	Missense_Mutation	SNP	1 : 91180182 - 91180182 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	530	6
BPTF	2186	broad.mit.edu	37	17	65862758	65862758	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:65862758A>G	ENST00000306378.6	+	3	1675	c.1615A>G	c.(1615-1617)Aat>Gat	p.N539D	BPTF_ENST00000335221.5_Missense_Mutation_p.N539D|BPTF_ENST00000321892.4_Missense_Mutation_p.N539D|BPTF_ENST00000424123.3_Missense_Mutation_p.N400D	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	539					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGACCTGACCAATAAGGCTCG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	87	85			NA	NA	17		NA											NA				65862758		2203	4300	6503	SO:0001583	missense			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634	2186	2186		Zinc fingers, PHD-type	3581	protein-coding gene	gene with protein product		601819	fetal Alzheimer antigen	FALZ	NA	8975731, 10662542, 16728976	Standard	NM_182641, NM_004459	NM_182641	NA	Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000306378.6:c.1615A>G	17.37:g.65862758A>G	ENSP00000307208:p.Asn539Asp	NA	Q6NX67|Q7Z7D6|Q9UIG2	37	CCDS11673.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314076	0.60414	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.67698	-0.23;-0.28;-0.26	5.84	5.84	0.93424	.	.	.	.	.	T	0.82213	0.4988	M	0.79475	2.455	0.58432	D	0.999996	D;D;D	0.76494	0.991;0.971;0.999	P;P;D	0.81914	0.629;0.835;0.995	D	0.84563	0.0651	9	0.87932	D	0	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	539;539;539	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	D	444;539;539;539;400	ENSP00000307208:N539D;ENSP00000334351:N539D;ENSP00000315454:N539D	ENSP00000307208:N539D	N	+	1	0	BPTF	63293220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.669000	0.68081	2.228000	0.72767	0.533000	0.62120	AAT	BPTF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255334.2		+	ENST00000306378.6	Missense_Mutation	SNP	17 : 65862758 - 65862758 G PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	341	5
CCDC38	120935	broad.mit.edu	37	12	96292480	96292480	+	Silent	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:96292480G>T	ENST00000344280.3	-	6	956	c.399C>A	c.(397-399)atC>atA	p.I133I	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	133										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAAACTTTTTGATTGTGTTTC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	127	132			NA	NA	12		NA											NA				96292480		2203	4300	6503	SO:0001819	synonymous_variant			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972	120935	120935			26843	protein-coding gene	gene with protein product					NA		Standard	NM_182496	NM_182496	NA	Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.399C>A	12.37:g.96292480G>T		NA	Q8N835	37	CCDS9056.1																																																																																			CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408634.1		-	ENST00000344280.3	Silent	SNP	12 : 96292480 - 96292480 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	366	105
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(67;1379 1389 36064 39806)							NA				0													143	142	142			NA	NA	3		NA											NA				121822548		2203	4300	6503	SO:0001583	missense				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013	942	942		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1705	protein-coding gene	gene with protein product	B-lymphocyte antigen B7-2	601020	CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	CD28LG2	NA	7513726	Standard	NM_006889	NM_006889	NA	Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	3.37:g.121822548G>A	ENSP00000332049:p.Arg85His	NA	A0N0P0|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	37	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC	CD86-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355671.1		+	ENST00000330540.2	Missense_Mutation	SNP	3 : 121822548 - 121822548 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	763	6
CENPC	1060	broad.mit.edu	37	4	68378155	68378155	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr4:68378155C>T	ENST00000273853.6	-	9	1827	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H		NM_001812.2	NP_001803.2			centromere protein C	NA											NA						ATCAGATGGACGCCTGGAAAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	63	67			NA	NA	4		NA											NA				68378155		1815	4075	5890	SO:0001583	missense			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241	1060	1060			1854	protein-coding gene	gene with protein product		117141	centromere protein C 1	CENPC1	NA	7959789	Standard		XR_245245	NA	Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1577G>A	4.37:g.68378155C>T	ENSP00000273853:p.Arg526His	NA		37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.494310	0.26774	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.82	-1.46	0.08800	.	1.509460	0.03726	N	0.252602	T	0.26195	0.0639	N	0.19112	0.55	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.11916	-1.0568	9	0.31617	T	0.26	4.3272	4.8284	0.13428	0.0:0.3968:0.2712:0.332	.	526;526	Q8IW27;Q03188	.;CENPC_HUMAN	H	526	.	ENSP00000273853:R526H	R	-	2	0	CENPC1	68060750	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	-1.191000	0.03055	-0.469000	0.06911	0.591000	0.81541	CGT	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362001.2		-	ENST00000273853.6	Missense_Mutation	SNP	4 : 68378155 - 68378155 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	120	28
CHD3	1107	broad.mit.edu	37	17	7807208	7807208	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:7807208G>A	ENST00000380358.4	+	24	3971	c.3970G>A	c.(3970-3972)Gac>Aac	p.D1324N	CHD3_ENST00000330494.7_Missense_Mutation_p.D1265N|CHD3_ENST00000358181.4_Missense_Mutation_p.D1265N	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1265					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCGGCTGTTGGACCGGAACCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	101	110			NA	NA	17		NA											NA				7807208		2203	4300	6503	SO:0001583	missense			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004	1107	1107		Zinc fingers, PHD-type	1918	protein-coding gene	gene with protein product		602120			NA	9326634, 7560064	Standard	NM_001005273	NM_001005271	NA	Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.3970G>A	17.37:g.7807208G>A	ENSP00000369716:p.Asp1324Asn	NA	D3DTQ9|Q9Y4I0	37	CCDS32553.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723272	0.89298	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.91631	-2.88;-2.81;-2.81	5.12	5.12	0.69794	.	0.000000	0.49305	D	0.000159	D	0.95242	0.8457	L	0.60957	1.885	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.81914	0.995;0.989;0.989	D	0.95103	0.8232	10	0.62326	D	0.03	-30.8593	19.1045	0.93287	0.0:0.0:1.0:0.0	.	1265;1265;1324	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	N	1324;1265;1265	ENSP00000369716:D1324N;ENSP00000350907:D1265N;ENSP00000332628:D1265N	ENSP00000332628:D1265N	D	+	1	0	CHD3	7747933	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.203000	0.95033	2.811000	0.96726	0.655000	0.94253	GAC	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318052.1		+	ENST00000380358.4	Missense_Mutation	SNP	17 : 7807208 - 7807208 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	232	114
COL20A1	57642	broad.mit.edu	37	20	61950533	61950533	+	Silent	SNP	C	C	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr20:61950533C>A	ENST00000422202.1	+	21	2876	c.2808C>A	c.(2806-2808)ctC>ctA	p.L936L	COL20A1_ENST00000358894.6_Silent_p.L929L|COL20A1_ENST00000326996.6_Silent_p.L929L|COL20A1_ENST00000435874.1_Silent_p.L936L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	929	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCCAGCCCCTCCTTGGGGTTC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	33			NA	NA	20		NA											NA				61950533		1964	4140	6104	SO:0001819	synonymous_variant			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203	57642	57642		Collagens, Fibronectin type III domain containing	14670	protein-coding gene	gene with protein product					NA	10819331	Standard	NM_020882	NM_020882	NA	Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000422202.1:c.2808C>A	20.37:g.61950533C>A		NA	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	37																																																																																				COL20A1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000080130.4		+	ENST00000422202.1	Silent	SNP	20 : 61950533 - 61950533 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	162	45
COL5A2	1290	broad.mit.edu	37	2	189904090	189904090	+	Missense_Mutation	SNP	T	T	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:189904090T>G	ENST00000374866.3	-	51	4107	c.3833A>C	c.(3832-3834)cAg>cCg	p.Q1278P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1278	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTTTCAATCTGACTACTGAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	112	116			NA	NA	2		NA											NA				189904090		2203	4300	6503	SO:0001583	missense			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262	1290	1290		Collagens	2210	protein-coding gene	gene with protein product	AB collagen	120190			NA	1572660	Standard	NM_000393	NM_000393	NA	Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3833A>C	2.37:g.189904090T>G	ENSP00000364000:p.Gln1278Pro	NA	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.817476	0.70912	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.83914	-1.78	5.28	5.28	0.74379	Fibrillar collagen, C-terminal (2);	0.000000	0.43747	D	0.000537	D	0.91781	0.7400	M	0.90369	3.11	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.70487	0.969;0.969	D	0.91360	0.5111	10	0.27082	T	0.32	.	15.1969	0.73100	0.0:0.0:0.0:1.0	.	918;1278	Q5PR22;P05997	.;CO5A2_HUMAN	P	1278;918	ENSP00000364000:Q1278P	ENSP00000364000:Q1278P	Q	-	2	0	COL5A2	189612335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.977000	0.88081	1.983000	0.57843	0.533000	0.62120	CAG	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313523.1		-	ENST00000374866.3	Missense_Mutation	SNP	2 : 189904090 - 189904090 G PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	394	118
CRYGD	1421	broad.mit.edu	37	2	208988981	208988981	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:208988981G>A	ENST00000264376.4	-	2	134	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	36	Beta/gamma crystallin 'Greek key' 1.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCCACGCGCGCCGAGTTGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	13	12			NA	NA	2		NA											NA				208988981		2179	4274	6453	SO:0001583	missense				CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231	1421	1421			2411	protein-coding gene	gene with protein product		123690		CRYG4	NA		Standard	NM_006891	NM_006891	NA	Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.107C>T	2.37:g.208988981G>A	ENSP00000264376:p.Ala36Val	NA	Q17RF7|Q53R51|Q99681	37	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627591	0.28978	.	.	ENSG00000118231	ENST00000264376	T	0.72051	-0.62	4.35	3.19	0.36642	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.184420	0.36703	N	0.002444	T	0.29389	0.0732	N	0.00166	-1.94	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	10	0.32370	T	0.25	.	8.1681	0.31239	0.9021:0.0:0.0979:0.0	.	36	P07320	CRGD_HUMAN	V	36	ENSP00000264376:A36V	ENSP00000264376:A36V	A	-	2	0	CRYGD	208697226	0.280000	0.24249	0.067000	0.19924	0.966000	0.64601	2.073000	0.41519	0.695000	0.31675	-0.573000	0.04149	GCG	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256476.2		-	ENST00000264376.4	Missense_Mutation	SNP	2 : 208988981 - 208988981 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	106	7
CSMD3	114788	broad.mit.edu	37	8	113277800	113277800	+	Silent	SNP	T	T	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:113277800T>A	ENST00000297405.5	-	60	9772	c.9528A>T	c.(9526-9528)ccA>ccT	p.P3176P	CSMD3_ENST00000455883.2_Silent_p.P3007P|CSMD3_ENST00000352409.3_Silent_p.P3106P|CSMD3_ENST00000343508.3_Silent_p.P3136P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3176	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGGTATACCTGGGTCTCCAC	0.418		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	130	138			NA	NA	8		NA											NA				113277800		2203	4300	6503	SO:0001819	synonymous_variant			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9528A>T	8.37:g.113277800T>A		NA	Q96PZ3	37	CCDS6315.1																																																																																			CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Silent	SNP	8 : 113277800 - 113277800 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	603	154
CYP21A2	1589	broad.mit.edu	37	6	32008351	32008351	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:32008351C>T	ENST00000418967.2	+	8	1266	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	CYP21A2_ENST00000435122.2_Missense_Mutation_p.R340W	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	369					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CCGCACCACACGGCCCAGCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(174;1669 1998 3915 34700 46447)							NA				0													26	23	24			NA	NA	6		NA											NA				32008351		2200	4294	6494	SO:0001583	missense			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1589	1589	1.14.99.10	Cytochrome P450s	2600	protein-coding gene	gene with protein product	Steroid 21-monooxygenase	613815	cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2	CYP21, CYP21B	NA		Standard	NM_000500	NM_000500	NA	Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1108C>T	6.37:g.32008351C>T	ENSP00000408860:p.Arg370Trp	NA	P04033|Q01204|Q08AG8|Q16749|Q16806	37	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	c	15.70	2.911619	0.52439	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.80123	-1.34;-1.34	4.75	2.87	0.33458	.	0.508711	0.16495	N	0.211913	D	0.83940	0.5363	M	0.80847	2.515	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	T	0.75297	-0.3367	10	0.66056	D	0.02	.	9.7965	0.40737	0.3896:0.6104:0.0:0.0	.	340;370	Q5ST44;Q16874	.;.	W	370;340	ENSP00000408860:R370W;ENSP00000415043:R340W	ENSP00000408860:R370W	R	+	1	2	CYP21A2	32116330	0.000000	0.05858	0.073000	0.20177	0.715000	0.41141	0.215000	0.17562	0.656000	0.30886	0.651000	0.88453	CGG	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268768.2		+	ENST00000418967.2	Missense_Mutation	SNP	6 : 32008351 - 32008351 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	252	37
CYP3A43	64816	broad.mit.edu	37	7	99454485	99454485	+	Silent	SNP	C	C	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:99454485C>A	ENST00000354829.2	+	9	931	c.828C>A	c.(826-828)atC>atA	p.I276I	CYP3A43_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Silent_p.I23I|CYP3A43_ENST00000415413.1_Silent_p.I65I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	276			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AACAGATGATCGACTCCCAGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	101	99			NA	NA	7		NA											NA				99454485		2203	4300	6503	SO:0001819	synonymous_variant			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461	64816	64816		Cytochrome P450s	17450	protein-coding gene	gene with protein product		606534	cytochrome P450, subfamily IIIA, polypeptide 43		NA	11160876, 11266076	Standard		NM_022820	NA	Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.828C>A	7.37:g.99454485C>A		NA	Q9HB52|Q9HB53|Q9HB54|Q9HB57	37	CCDS5676.1																																																																																			CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344379.1		+	ENST00000354829.2	Silent	SNP	7 : 99454485 - 99454485 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	1330	61
DDX47	51202	broad.mit.edu	37	12	12974195	12974195	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:12974195G>T	ENST00000358007.3	+	3	257	c.235G>T	c.(235-237)Gct>Tct	p.A79S	DDX47_ENST00000392155.2_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.A79S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	79	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AGGCGCCTTTGCTTTGCCCAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	118	119			NA	NA	12		NA											NA				12974195		2203	4300	6503	SO:0001583	missense			AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782	51202	51202		DEAD-boxes	18682	protein-coding gene	gene with protein product		615428			NA		Standard	NM_016355	NM_016355	NA	Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.235G>T	12.37:g.12974195G>T	ENSP00000350698:p.Ala79Ser	NA	B3KXP4|Q96GM0|Q96NV8	37	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703195	0.88924	.	.	ENSG00000213782	ENST00000352940;ENST00000358007	T;T	0.44083	0.93;2.57	5.6	4.71	0.59529	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	L	0.49571	1.57	0.80722	D	1	B;B;B;B	0.30634	0.134;0.098;0.08;0.288	P;B;B;P	0.49387	0.609;0.326;0.34;0.475	T	0.48980	-0.8986	10	0.25106	T	0.35	-9.5993	14.6773	0.68989	0.0699:0.0:0.93:0.0	.	79;79;79;79	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	S	79	ENSP00000319578:A79S;ENSP00000350698:A79S	ENSP00000319578:A79S	A	+	1	0	DDX47	12865462	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.201000	0.95017	1.370000	0.46153	0.555000	0.69702	GCT	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400674.1		+	ENST00000358007.3	Missense_Mutation	SNP	12 : 12974195 - 12974195 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	1045	9
DIDO1	11083	broad.mit.edu	37	20	61511162	61511162	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr20:61511162G>A	ENST00000266070.4	-	16	6471	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A2049V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2049					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAGGAGAGCGCGGAGGGCGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)							NA				0													38	46	43			NA	NA	20		NA											NA				61511162		2000	3914	5914	SO:0001583	missense			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	11083	11083		Zinc fingers, PHD-type	2680	protein-coding gene	gene with protein product		604140	chromosome 20 open reading frame 158, death associated transcription factor 1	C20orf158, DATF1	NA	10393935	Standard	NM_080796	NM_033081	NA	Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6146C>T	20.37:g.61511162G>A	ENSP00000266070:p.Ala2049Val	NA	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	6.147	0.395336	0.11638	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09163	3.01;3.01	3.89	1.76	0.24704	.	1.633200	0.04269	U	0.341785	T	0.07999	0.0200	N	0.22421	0.69	0.09310	N	0.999999	B	0.30211	0.273	B	0.15484	0.013	T	0.34576	-0.9823	10	0.56958	D	0.05	0.4278	6.5979	0.22685	0.088:0.0:0.5951:0.3169	.	2049	Q9BTC0	DIDO1_HUMAN	V	2049	ENSP00000266070:A2049V;ENSP00000378752:A2049V	ENSP00000266070:A2049V	A	-	2	0	DIDO1	60981607	0.027000	0.19231	0.002000	0.10522	0.013000	0.08279	2.240000	0.43088	0.084000	0.17077	0.563000	0.77884	GCG	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080091.2		-	ENST00000266070.4	Missense_Mutation	SNP	20 : 61511162 - 61511162 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	608	180
DUSP16	80824	broad.mit.edu	37	12	12639992	12639992	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:12639992G>A	ENST00000228862.2	-	5	1292	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR|RP11-253I19.3_ENST00000544086.1_lincRNA	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	221					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TCCAACCACGGCAAAATTTTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(158;443 1896 15437 36069 46477)							NA				0													135	126	129			NA	NA	12		NA											NA				12639992		2203	4300	6503	SO:0001583	missense			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266	80824	80824		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	17909	protein-coding gene	gene with protein product	MAPK phosphatase-7	607175			NA	11359773, 11489891, 15888437	Standard	NM_030640	NM_030640	NA	Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.661C>T	12.37:g.12639992G>A	ENSP00000228862:p.Pro221Ser	NA	Q547C7|Q9C0G3	37	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968201	0.92855	.	.	ENSG00000111266	ENST00000228862	D	0.85339	-1.97	5.27	5.27	0.74061	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.128209	0.53938	D	0.000056	D	0.89525	0.6740	L	0.39326	1.205	0.80722	D	1	D;D	0.63880	0.993;0.966	D;D	0.72338	0.977;0.948	D	0.89322	0.3641	10	0.49607	T	0.09	.	19.2465	0.93904	0.0:0.0:1.0:0.0	.	221;221	Q9BY84;Q96N49	DUS16_HUMAN;.	S	221	ENSP00000228862:P221S	ENSP00000228862:P221S	P	-	1	0	DUSP16	12531259	1.000000	0.71417	0.734000	0.30879	0.975000	0.68041	9.516000	0.98017	2.621000	0.88768	0.561000	0.74099	CCG	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400311.1		-	ENST00000228862.2	Missense_Mutation	SNP	12 : 12639992 - 12639992 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	523	5
EIF5	1983	broad.mit.edu	37	14	103805083	103805083	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:103805083G>T	ENST00000216554.3	+	8	1273	c.597G>T	c.(595-597)gaG>gaT	p.E199D	EIF5_ENST00000392715.2_Missense_Mutation_p.E199D|EIF5_ENST00000558506.1_Missense_Mutation_p.E199D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	199	Asp/Glu-rich (highly acidic).				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AAGAAGAGGAGGATGATGACT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	107	111			NA	NA	14		NA											NA				103805083		2203	4300	6503	SO:0001583	missense			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664	1983	1983			3299	protein-coding gene	gene with protein product		601710			NA	8663286	Standard	NM_001969	NM_001969	NA	Approved		uc001ymq.4	P55010		ENST00000216554.3:c.597G>T	14.37:g.103805083G>T	ENSP00000216554:p.Glu199Asp	NA	Q53XB3|Q9H5N2|Q9UG48	37	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	1.304	-0.604076	0.03717	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	D;D	0.82433	-1.61;-1.61	5.37	0.862	0.19056	.	0.138874	0.64402	N	0.000008	T	0.57475	0.2056	N	0.16903	0.455	0.38094	D	0.937046	B	0.02656	0.0	B	0.01281	0.0	T	0.49570	-0.8926	10	0.02654	T	1	-4.7689	0.5359	0.00636	0.3386:0.1608:0.2956:0.2049	.	199	P55010	IF5_HUMAN	D	199	ENSP00000216554:E199D;ENSP00000376477:E199D	ENSP00000216554:E199D	E	+	3	2	EIF5	102874836	0.291000	0.24352	0.996000	0.52242	0.657000	0.38888	-0.406000	0.07187	-0.043000	0.13513	-0.259000	0.10710	GAG	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415329.2		+	ENST00000216554.3	Missense_Mutation	SNP	14 : 103805083 - 103805083 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	437	128
EML5	161436	broad.mit.edu	37	14	89181392	89181392	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:89181392G>A	ENST00000554922.1	-	9	1583	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	EML5_ENST00000352093.5_Silent_p.G445G|EML5_ENST00000380664.5_Silent_p.G445G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	445						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAAACACTCGCCAACTTTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	82	83			NA	NA	14		NA											NA				89181392		1881	4108	5989	SO:0001819	synonymous_variant			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521	161436	161436		WD repeat domain containing	18197	protein-coding gene	gene with protein product					NA		Standard		NM_183387	NA	Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000554922.1:c.1335C>T	14.37:g.89181392G>A		NA	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	37	CCDS45148.1																																																																																			EML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410488.2		-	ENST00000554922.1	Silent	SNP	14 : 89181392 - 89181392 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	236	81
FAM153B	202134	broad.mit.edu	37	5	175528575	175528575	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:175528575C>G	ENST00000515817.1	+	11	708	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V	FAM153B_ENST00000253490.4_Missense_Mutation_p.L219V|FAM153B_ENST00000510151.1_Missense_Mutation_p.L142V|FAM153B_ENST00000512862.1_Intron	NM_001265615.1	NP_001252544.1	P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	219										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCCAGACACACTGGCCGAACG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	138	135			NA	NA	5		NA											NA				175528575		2203	4300	6503	SO:0001583	missense			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230	202134	202134			27323	protein-coding gene	gene with protein product					NA		Standard	NM_001079529	NM_001265615	NA	Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000515817.1:c.424C>G	5.37:g.175528575C>G	ENSP00000427684:p.Leu142Val	NA	A8MTI1	37	CCDS43401.2	.	.	.	.	.	.	.	.	.	.	C	6.823	0.520995	0.13005	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.607	-1.05	0.10036	.	.	.	.	.	T	0.20333	0.0489	N	0.19112	0.55	0.09310	N	1	P	0.45594	0.862	P	0.46110	0.504	T	0.13361	-1.0512	7	0.46703	T	0.11	.	.	.	.	.	219	P0C7A2	F153B_HUMAN	V	142;219	.	ENSP00000253490:L219V	L	+	1	2	FAM153B	175461181	0.007000	0.16637	0.000000	0.03702	0.008000	0.06430	-0.346000	0.07760	-0.368000	0.08040	0.173000	0.16961	CTG	FAM153B-003	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371922.2		+	ENST00000515817.1	Missense_Mutation	SNP	5 : 175528575 - 175528575 G PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	412	107
FOXR2	139628	broad.mit.edu	37	X	55650498	55650498	+	Silent	SNP	A	A	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chrX:55650498A>G	ENST00000339140.3	+	1	666	c.354A>G	c.(352-354)gaA>gaG	p.E118E		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	118					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAAAAGACGAAGGGTCTAACT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	61	62			NA	NA	X		NA											NA				55650498		2203	4300	6503	SO:0001819	synonymous_variant			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299	139628	139628		Forkhead boxes	30469	protein-coding gene	gene with protein product					NA	15202009, 15202027	Standard	NM_198451	NM_198451	NA	Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.354A>G	X.37:g.55650498A>G		NA		37	CCDS35308.1																																																																																			FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056877.2		+	ENST00000339140.3	Silent	SNP	X : 55650498 - 55650498 G PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	64	92
GDF3	9573	broad.mit.edu	37	12	7843026	7843026	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:7843026G>A	ENST00000329913.3	-	2	590	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	181					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAGCAGGTTGAAGTGAACAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	12		NA											NA				7843026		2203	4300	6503	SO:0001819	synonymous_variant			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344	9573	9573		Endogenous ligands	4218	protein-coding gene	gene with protein product		606522			NA	9467948	Standard		NM_020634	NA	Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.543C>T	12.37:g.7843026G>A		NA	Q8NEJ4	37	CCDS8581.1																																																																																			GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399717.1		-	ENST00000329913.3	Silent	SNP	12 : 7843026 - 7843026 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	601	164
GP2	2813	broad.mit.edu	37	16	20329591	20329591	+	Missense_Mutation	SNP	C	C	T	rs145287300		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr16:20329591C>T	ENST00000302555.5	-	7	1318	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	GP2_ENST00000381360.5_Missense_Mutation_p.R246Q|GP2_ENST00000381362.4_Missense_Mutation_p.R393Q|GP2_ENST00000341642.5_Missense_Mutation_p.R243Q			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	393	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGGTTAAACCGGGAGGTGTC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	164	177			NA	NA	16		NA											NA				20329591		2203	4300	6503	SO:0001583	missense			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347	2813	2813			4441	protein-coding gene	gene with protein product		602977			NA	9605860	Standard	NM_016295	XM_005255259	NA	Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000302555.5:c.1169G>A	16.37:g.20329591C>T	ENSP00000304044:p.Arg390Gln	NA	A6NFM9|A6NJA8|Q13338|Q9UIF1	37	CCDS10582.2	.	.	.	.	.	.	.	.	.	.	C	9.634	1.137313	0.21123	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.8	-0.158	0.13383	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.64560	0.2609	L	0.28192	0.835	0.09310	N	1	B;B;B;B	0.26147	0.012;0.122;0.135;0.143	B;B;B;B	0.23419	0.006;0.044;0.01;0.046	T	0.47433	-0.9118	9	0.11794	T	0.64	-6.5112	1.9729	0.03409	0.1244:0.4067:0.1377:0.3312	.	243;371;390;393	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	Q	390;393;246;243;371	ENSP00000304044:R390Q;ENSP00000370767:R393Q;ENSP00000370765:R246Q;ENSP00000343861:R243Q	ENSP00000304044:R390Q	R	-	2	0	GP2	20237092	0.033000	0.19621	0.017000	0.16124	0.778000	0.44026	0.163000	0.16520	0.089000	0.17243	-0.143000	0.13931	CGG	GP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254335.2		-	ENST00000302555.5	Missense_Mutation	SNP	16 : 20329591 - 20329591 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	502	156
HCRTR1	3061	broad.mit.edu	37	1	32087188	32087188	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:32087188C>T	ENST00000373706.5	+	4	886	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	HCRTR1_ENST00000373705.1_Missense_Mutation_p.R245C|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000403528.2_Missense_Mutation_p.R245C			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	245					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCTCTGGGGCCGCCAGGTGAG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	1		NA											NA				32087188		2203	4300	6503	SO:0001583	missense			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764	3061	3061		GPCR / Class A : Hypocretin (orexin) receptors	4848	protein-coding gene	gene with protein product		602392			NA	9491897	Standard	NM_001525	NM_001525	NA	Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.733C>T	1.37:g.32087188C>T	ENSP00000362810:p.Arg245Cys	NA	A8K3A6|Q9HBV6	37	CCDS344.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.987869	0.93106	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.38887	1.11;1.11;1.11	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.129259	0.56097	D	0.000036	T	0.63674	0.2531	M	0.73430	2.235	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.63703	0.846;0.917	T	0.66622	-0.5877	10	0.87932	D	0	.	17.1746	0.86838	0.0:1.0:0.0:0.0	.	245;245	A6NMV7;O43613	.;OX1R_HUMAN	C	245	ENSP00000384387:R245C;ENSP00000362810:R245C;ENSP00000362809:R245C	ENSP00000362809:R245C	R	+	1	0	HCRTR1	31859775	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.354000	0.59417	2.836000	0.97738	0.651000	0.88453	CGC	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011042.1		+	ENST00000373706.5	Missense_Mutation	SNP	1 : 32087188 - 32087188 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	250	7
HDAC4	9759	broad.mit.edu	37	2	239975284	239975284	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:239975284G>A	ENST00000345617.3	-	26	3878	c.3087C>T	c.(3085-3087)cgC>cgT	p.R1029R	HDAC4_ENST00000543185.1_Silent_p.R613R	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1029	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTGCAGGCAGCGCCAGTACT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	33	32			NA	NA	2		NA											NA				239975284		2203	4300	6503	SO:0001819	synonymous_variant			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024	9759	9759			14063	protein-coding gene	gene with protein product		605314	brachydactyly-mental retardation syndrome	BDMR	NA	10206986, 10220385, 20691407	Standard	NM_006037	NM_006037	NA	Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.3087C>T	2.37:g.239975284G>A		NA	Q9UND6	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	7.965	0.747822	0.15710	.	.	ENSG00000068024	ENST00000430200	.	.	.	4.38	2.12	0.27331	.	.	.	.	.	T	0.53190	0.1781	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46105	-0.9215	4	.	.	.	.	6.304	0.21129	0.3473:0.0:0.6527:0.0	.	.	.	.	V	120	.	.	A	-	2	0	HDAC4	239640221	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	1.786000	0.38694	0.972000	0.38314	-0.142000	0.14014	GCT	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257174.2		-	ENST00000345617.3	Silent	SNP	2 : 239975284 - 239975284 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	127	30
HIST1H2BL	8340	broad.mit.edu	37	6	27775524	27775524	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:27775524C>T	ENST00000377401.2	-	1	185	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	54					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGAAGAGATGCCGGTGTCGGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	195	199			NA	NA	6		NA											NA				27775524		2203	4300	6503	SO:0001583	missense			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130	8340	8340		Histones / Replication-dependent	4748	protein-coding gene	gene with protein product		602800	H2B histone family, member C, histone 1, H2bl	H2BFC	NA	9439656, 12408966	Standard	NM_003519	NM_003519	NA	Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.161G>A	6.37:g.27775524C>T	ENSP00000366618:p.Gly54Asp	NA	B2R5A3|Q52LW9	37	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.420936	0.83559	.	.	ENSG00000185130	ENST00000377401	T	0.69435	-0.4	4.35	4.35	0.52113	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.85835	0.5789	H	0.98426	4.23	0.58432	D	0.999994	P	0.42161	0.772	P	0.56700	0.804	D	0.90595	0.4540	9	0.87932	D	0	.	16.7577	0.85504	0.0:1.0:0.0:0.0	.	54	Q99880	H2B1L_HUMAN	D	54	ENSP00000366618:G54D	ENSP00000366618:G54D	G	-	2	0	HIST1H2BL	27883503	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.331000	0.59273	2.335000	0.79485	0.655000	0.94253	GGC	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040153.1		-	ENST00000377401.2	Missense_Mutation	SNP	6 : 27775524 - 27775524 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	1155	7
HOXA11	3207	broad.mit.edu	37	7	27222632	27222632	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:27222632C>T	ENST00000006015.3	-	2	796	c.725G>A	c.(724-726)cGc>cAc	p.R242H		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	242					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GCGCTTTTTGCGGGTGCGTTG	0.582		NA	T	NUP98	CML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0													73	70	71			NA	NA	7		NA											NA				27222632		2203	4300	6503	SO:0001583	missense				CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073	3207	3207		Homeoboxes / ANTP class : HOXL subclass	5101	protein-coding gene	gene with protein product		142958	homeo box A11	HOX1I, HOX1	NA	1973146, 1358459	Standard		NM_005523	NA	Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.725G>A	7.37:g.27222632C>T	ENSP00000006015:p.Arg242His	NA	A4D190	37	CCDS5411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.324480|5.324480	0.95708|0.95708	.|.	.|.	ENSG00000005073|ENSG00000005073	ENST00000517402|ENST00000006015	.|D	.|0.97303	.|-4.33	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99052|0.99052	0.9675|0.9675	H|H	0.95043|0.95043	3.615|3.615	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.99136|0.99136	1.0854|1.0854	5|10	.|0.87932	.|D	.|0	.|.	20.3053|20.3053	0.98627|0.98627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|242	.|P31270	.|HXA11_HUMAN	T|H	212|242	.|ENSP00000006015:R242H	.|ENSP00000006015:R242H	A|R	-|-	1|2	0|0	HOXA11|HOXA11	27189157|27189157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GCA|CGC	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358754.1		-	ENST00000006015.3	Missense_Mutation	SNP	7 : 27222632 - 27222632 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	533	6
IL1RL1	9173	broad.mit.edu	37	2	102957161	102957161	+	Silent	SNP	G	G	A	rs142878092		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:102957161G>A	ENST00000311734.2	+	5	822	c.483G>A	c.(481-483)gcG>gcA	p.A161A	IL1RL1_ENST00000393393.3_Silent_p.A161A|IL1RL1_ENST00000404917.2_Silent_p.A44A|IL1RL1_ENST00000409584.1_Silent_p.A161A|IL1RL1_ENST00000233954.1_Silent_p.A161A	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	161	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGTACAGGGCGCACAAGTCAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	4,4402	9.9+/-24.2	0,4,2199	144	138	140		483,483	-1.6	0	2	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IL1RL1	NM_003856.2,NM_016232.4	,	0,5,6498	AA,AG,GG	NA	0.0116,0.0908,0.0384	,	161/329,161/557	102957161	5,13001	2203	4300	6503	SO:0001819	synonymous_variant			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602	9173	9173		Interleukins and interleukin receptors, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5998	protein-coding gene	gene with protein product	homolog of mouse growth stimulation-expressed	601203			NA	1482686, 10191101, 16286016	Standard	NM_016232	NM_016232	NA	Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000311734.2:c.483G>A	2.37:g.102957161G>A		NA	A8K6B3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	37	CCDS2058.1																																																																																			IL1RL1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253297.1		+	ENST00000311734.2	Silent	SNP	2 : 102957161 - 102957161 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	590	6
ITGA2	3673	broad.mit.edu	37	5	52360796	52360796	+	Silent	SNP	C	C	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:52360796C>A	ENST00000296585.5	+	14	1800	c.1657C>A	c.(1657-1659)Cga>Aga	p.R553R		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	553					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAACACTCGATTTGGTTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	148	149			NA	NA	5		NA											NA				52360796		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171	3673	3673		CD molecules, Integrins	6137	protein-coding gene	gene with protein product		192974		CD49B	NA		Standard	NM_002203	NM_002203	NA	Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1657C>A	5.37:g.52360796C>A		NA	Q14595	37	CCDS3957.1																																																																																			ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253857.2		+	ENST00000296585.5	Silent	SNP	5 : 52360796 - 52360796 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	642	5
KANSL2	54934	broad.mit.edu	37	12	49075195	49075195	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:49075195T>C	ENST00000550347.1	-	1	813	c.770A>G	c.(769-771)aAt>aGt	p.N257S	KANSL2_ENST00000420613.2_Missense_Mutation_p.N74S|KANSL2_ENST00000553086.1_Missense_Mutation_p.N74S|KANSL2_ENST00000357861.3_5'UTR			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	74								p.N74S(2)			NA						TGGGGCAGCATTGGGACATCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											148	138	142			NA	NA	12		NA											NA				49075195		1870	4107	5977	SO:0001583	missense			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620	54934	54934			26024	protein-coding gene	gene with protein product		615488	chromosome 12 open reading frame 41	C12orf41	NA	12477932	Standard	NM_017822	NM_017822	NA	Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000550347.1:c.770A>G	12.37:g.49075195T>C	ENSP00000449747:p.Asn257Ser	NA	Q8N3B5|Q96CV0|Q9NX51	37		.	.	.	.	.	.	.	.	.	.	T	12.04	1.820109	0.32145	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550870	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.59	-3.34	0.04943	.	.	.	.	.	T	0.37376	0.1001	M	0.76727	2.345	0.80722	D	1	B;B	0.30281	0.275;0.0	B;B	0.33454	0.164;0.004	T	0.19712	-1.0297	9	0.31617	T	0.26	-35.0979	7.0871	0.25264	0.0:0.3308:0.1209:0.5483	.	257;74	F8VX10;Q9H9L4	.;CL041_HUMAN	S	257;74;74;74	ENSP00000449747:N257S;ENSP00000415436:N74S;ENSP00000448833:N74S;ENSP00000448473:N74S	ENSP00000415436:N74S	N	-	2	0	C12orf41	47361462	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	0.629000	0.24538	-0.474000	0.06862	-1.451000	0.01035	AAT	KANSL2-001	PUTATIVE	downstream_ATG|basic	protein_coding	NA	protein_coding	OTTHUMT00000408840.1		-	ENST00000550347.1	Missense_Mutation	SNP	12 : 49075195 - 49075195 C PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	325	98
KAT6A	7994	broad.mit.edu	37	8	41791386	41791386	+	Missense_Mutation	SNP	G	G	A	rs148148486		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:41791386G>A	ENST00000396930.3	-	18	4895	c.4352C>T	c.(4351-4353)gCg>gTg	p.A1451V	KAT6A_ENST00000265713.2_Missense_Mutation_p.A1451V|KAT6A_ENST00000406337.1_Missense_Mutation_p.A1451V	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1451					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding				NA						CTGACACGCCGCAAGAGTTTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	120	108	112		4352,4352,4352	6	0.3	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KAT6A	NM_001099412.1,NM_001099413.1,NM_006766.3	64,64,64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1451/2005,1451/2005,1451/2005	41791386	1,13005	2203	4300	6503	SO:0001583	missense			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168	7994	7994		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type	13013	protein-coding gene	gene with protein product	Monocytic leukemia zinc finger protein	601408	runt-related transcription factor binding protein 2, MYST histone acetyltransferase (monocytic leukemia) 3	ZNF220, RUNXBP2, MYST3	NA	8849440, 8782817	Standard	NM_006766	NM_001099412	NA	Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4352C>T	8.37:g.41791386G>A	ENSP00000380136:p.Ala1451Val	NA	Q76L81	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965995	0.34659	0.0	1.16E-4	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.62105	0.05;0.05;0.05	5.96	5.96	0.96718	.	0.067965	0.64402	D	0.000009	T	0.66906	0.2837	N	0.24115	0.695	0.58432	D	0.999995	D	0.71674	0.998	P	0.58620	0.842	T	0.68334	-0.5436	10	0.56958	D	0.05	-17.023	20.4043	0.99006	0.0:0.0:1.0:0.0	.	1451	Q92794	KAT6A_HUMAN	V	1451	ENSP00000265713:A1451V;ENSP00000385888:A1451V;ENSP00000380136:A1451V	ENSP00000265713:A1451V	A	-	2	0	KAT6A	41910543	1.000000	0.71417	0.315000	0.25238	0.008000	0.06430	6.130000	0.71663	2.823000	0.97156	0.650000	0.86243	GCG	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318163.1		-	ENST00000396930.3	Missense_Mutation	SNP	8 : 41791386 - 41791386 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	546	6
KCNA4	3739	broad.mit.edu	37	11	30033579	30033579	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr11:30033579C>T	ENST00000328224.6	-	2	1880	c.647G>A	c.(646-648)cGc>cAc	p.R216H		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATACTCATTGCGCAAAGGGTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	65	67			NA	NA	11		NA											NA				30033579		1862	4106	5968	SO:0001583	missense			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255	3739	3739		Potassium channels, Voltage-gated ion channels / Potassium channels	6222	protein-coding gene	gene with protein product		176266	potassium voltage-gated channel, shaker-related subfamily, member 4-like	KCNA4L	NA	2263489, 16382104	Standard	NM_002233	NM_002233	NA	Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.647G>A	11.37:g.30033579C>T	ENSP00000328511:p.Arg216His	NA		37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410513	0.83340	.	.	ENSG00000182255	ENST00000328224	T	0.77358	-1.09	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	M	0.84156	2.68	0.80722	D	1	D	0.69078	0.997	P	0.49332	0.607	D	0.87784	0.2614	10	0.72032	D	0.01	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	216	P22459	KCNA4_HUMAN	H	216	ENSP00000328511:R216H	ENSP00000328511:R216H	R	-	2	0	KCNA4	29990155	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	CGC	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388074.2		-	ENST00000328224.6	Missense_Mutation	SNP	11 : 30033579 - 30033579 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	495	35
KLHL4	56062	broad.mit.edu	37	X	86887279	86887279	+	Missense_Mutation	SNP	G	G	A	rs146910003		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chrX:86887279G>A	ENST00000373119.4	+	7	1539	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	KLHL4_ENST00000373114.4_Missense_Mutation_p.R465H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	465						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.R465H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATGAATGGCCGTAGGCTTCAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						G	HIS/ARG,HIS/ARG	1,3834		0,1,1631,571	108	91	97		1394,1394	3.5	0.8	X	dbSNP_134	97	0,6728		0,0,2428,1872	no	missense,missense	KLHL4	NM_019117.4,NM_057162.2	29,29	0,1,4059,2443	AA,AG,GG,G	NA	0.0,0.0261,0.0095	probably-damaging,probably-damaging	465/719,465/721	86887279	1,10562	2203	4300	6503	SO:0001583	missense			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271	NA	56062		Kelch-like, BTB/POZ domain containing	6355	protein-coding gene	gene with protein product		300348	kelch (Drosophila)-like 4, kelch-like 4 (Drosophila)		NA	11401425	Standard		NM_019117	NA	Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1394G>A	X.37:g.86887279G>A	ENSP00000362211:p.Arg465His	NA	B2RTW2|Q9Y3J5	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165472	0.78339	2.61E-4	0.0	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.66815	-0.23;-0.23	5.32	3.55	0.40652	Galactose oxidase, beta-propeller (1);	0.059533	0.64402	N	0.000005	T	0.65365	0.2684	M	0.69358	2.11	0.58432	D	0.999997	P;D	0.55605	0.692;0.972	B;P	0.44860	0.344;0.462	T	0.66396	-0.5934	10	0.87932	D	0	.	10.0307	0.42099	0.1676:0.0:0.8324:0.0	.	465;465	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	H	465	ENSP00000362211:R465H;ENSP00000362206:R465H	ENSP00000362206:R465H	R	+	2	0	KLHL4	86773935	1.000000	0.71417	0.760000	0.31359	0.976000	0.68499	6.184000	0.72008	0.448000	0.26722	0.506000	0.49869	CGT	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057413.1		+	ENST00000373119.4	Missense_Mutation	SNP	X : 86887279 - 86887279 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	84	118
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	371	92
LRMP	4033	broad.mit.edu	37	12	25232195	25232195	+	Silent	SNP	C	C	T	rs114104872	by1000genomes	TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:25232195C>T	ENST00000354454.3	+	6	871	c.42C>T	c.(40-42)cgC>cgT	p.R14R	LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	70					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373		NA											C	3	0.0014	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	,,	1,4405	2.1+/-5.4	0,1,2202	288	260	270		42,42,42	0.8	0	12	dbSNP_132	270	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LRMP	NM_001204126.1,NM_001204127.1,NM_006152.3	,,	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	,,	14/500,14/500,14/500	25232195	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308	4033	4033			6690	protein-coding gene	gene with protein product		602003			NA	8021504	Standard	NM_006152	NM_006152	NA	Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.42C>T	12.37:g.25232195C>T		NA	A0AVM2|B4E077|Q8N301	37	CCDS8701.1																																																																																			LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407870.1		+	ENST00000354454.3	Silent	SNP	12 : 25232195 - 25232195 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	975	264
LRP1B	53353	broad.mit.edu	37	2	141571360	141571360	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:141571360T>C	ENST00000389484.3	-	32	6196	c.5225A>G	c.(5224-5226)tAt>tGt	p.Y1742C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1742					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTTCCACATAGTCTATCGA	0.348		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													122	109	113			NA	NA	2		NA											NA				141571360		2201	4300	6501	SO:0001583	missense			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5225A>G	2.37:g.141571360T>C	ENSP00000374135:p.Tyr1742Cys	NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388112	0.61956	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.164731	0.41938	D	0.000793	D	0.94686	0.8286	M	0.85099	2.735	0.41501	D	0.988284	D	0.69078	0.997	P	0.57283	0.817	D	0.95215	0.8329	10	0.56958	D	0.05	.	15.9781	0.80086	0.0:0.0:0.0:1.0	.	1742	Q9NZR2	LRP1B_HUMAN	C	1742;1680	ENSP00000374135:Y1742C	ENSP00000374135:Y1742C	Y	-	2	0	LRP1B	141287830	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.982000	0.56909	2.171000	0.68590	0.533000	0.62120	TAT	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Missense_Mutation	SNP	2 : 141571360 - 141571360 C PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	295	4
M1AP	130951	broad.mit.edu	37	2	74802691	74802691	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:74802691G>A	ENST00000409585.1	-	6	999	c.948C>T	c.(946-948)agC>agT	p.S316S	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Silent_p.S34S|M1AP_ENST00000290536.5_Silent_p.S316S|M1AP_ENST00000536235.1_Silent_p.S316S					meiosis 1 associated protein	NA											NA						CGCAGAGCCCGCTAGATTTTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	96	96			NA	NA	2		NA											NA				74802691		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374	130951	130951			25183	protein-coding gene	gene with protein product	meiosis 1 arresting protein, spermatogenesis associated 37		chromosome 2 open reading frame 65	C2orf65	NA	16881047, 23269666	Standard	NM_138804	NM_138804	NA	Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000409585.1:c.948C>T	2.37:g.74802691G>A		NA		37																																																																																				M1AP-002	NOVEL	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328570.1		-	ENST00000409585.1	Silent	SNP	2 : 74802691 - 74802691 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	590	148
MAK	4117	broad.mit.edu	37	6	10802169	10802169	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:10802169C>T	ENST00000313243.2	-	8	1169	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Missense_Mutation_p.E263K|MAK_ENST00000474039.1_Missense_Mutation_p.E263K|MAK_ENST00000354489.2_Missense_Mutation_p.E263K|MAK_ENST00000536370.1_Missense_Mutation_p.E263K|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	263	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTCAACATTTCGGTCATGAGC	0.408		NA									OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	115	111	112		787,787	5.4	0.9	6		112	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	MAK	NM_001242385.1,NM_005906.4	56,56	0,5,6498	TT,TC,CC	NA	0.0465,0.0227,0.0384	benign,benign	263/584,263/624	10802169	5,13001	2203	4300	6503	SO:0001583	missense				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837	4117	4117			6816	protein-coding gene	gene with protein product		154235			NA	16951154	Standard	NM_005906	NM_005906	NA	Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.787G>A	6.37:g.10802169C>T	ENSP00000313021:p.Glu263Lys	667	Q9NUH7	37	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710536	0.89112	2.27E-4	4.65E-4	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030;ENST00000536370	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.146778	0.64402	D	0.000016	T	0.18923	0.0454	N	0.00399	-1.545	0.80722	D	1	B	0.20368	0.044	B	0.23419	0.046	T	0.19386	-1.0307	10	0.29301	T	0.29	.	19.6002	0.95559	0.0:1.0:0.0:0.0	.	263	P20794	MAK_HUMAN	K	263	ENSP00000313021:E263K;ENSP00000346484:E263K;ENSP00000442250:E263K;ENSP00000442221:E263K	ENSP00000313021:E263K	E	-	1	0	MAK	10910155	1.000000	0.71417	0.927000	0.36925	0.966000	0.64601	4.566000	0.60843	2.691000	0.91804	0.655000	0.94253	GAA	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039841.1		-	ENST00000313243.2	Missense_Mutation	SNP	6 : 10802169 - 10802169 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	326	10
MYH7	4625	broad.mit.edu	37	14	23887535	23887535	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:23887535C>T	ENST00000355349.3	-	30	4215	c.4053G>A	c.(4051-4053)acG>acA	p.T1351T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1351					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T1351T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTTGGCCTCCGTCTCCTCCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											64	57	60			NA	NA	14		NA											NA				23887535		2203	4300	6503	SO:0001819	synonymous_variant			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054	4625	4625		Myosins / Myosin superfamily : Class II	7577	protein-coding gene	gene with protein product		160760	myopathy, distal 1, myosin, heavy polypeptide 7, cardiac muscle, beta	CMH1, MPD1	NA	2494889, 8483915, 15322983	Standard	NM_000257	XM_005267696	NA	Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4053G>A	14.37:g.23887535C>T		NA	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	37	CCDS9601.1																																																																																			MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071798.3		-	ENST00000355349.3	Silent	SNP	14 : 23887535 - 23887535 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	350	4
NAV3	89795	broad.mit.edu	37	12	78604240	78604240	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:78604240C>T	ENST00000397909.2	+	40	7274	c.7101C>T	c.(7099-7101)agC>agT	p.S2367S	NAV3_ENST00000536525.2_Silent_p.S2345S|NAV3_ENST00000228327.6_Silent_p.S2345S|NAV3_ENST00000541270.1_Silent_p.S197S|NAV3_ENST00000266692.7_Silent_p.S2168S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2367						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTGCGACAGCGAAAGCACCA	0.393		NA								HNSCC(70;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	57	56			NA	NA	12		NA											NA				78604240		1948	4171	6119	SO:0001819	synonymous_variant			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798	89795	89795			15998	protein-coding gene	gene with protein product	pore membrane and/or filament interacting like protein 1, steerin 3	611629			NA	12079279, 12062803	Standard	NM_001024383	XM_005269215	NA	Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7101C>T	12.37:g.78604240C>T		NA	Q8NFW7|Q9Y2E7	37		.	.	.	.	.	.	.	.	.	.	C	0.332	-0.955497	0.02267	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.35	-5.24	0.02789	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8606	16.3886	0.83524	0.0:0.3108:0.0:0.6892	.	.	.	.	X	1240;235	.	.	R	+	1	2	NAV3	77128371	0.488000	0.25996	0.415000	0.26534	0.199000	0.23934	-0.262000	0.08682	-0.911000	0.03843	-0.768000	0.03414	CGA	NAV3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000406812.1		+	ENST00000397909.2	Silent	SNP	12 : 78604240 - 78604240 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	414	123
NDUFA12	55967	broad.mit.edu	37	12	95397439	95397439	+	Silent	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:95397439G>T	ENST00000327772.2	-	1	107	c.18C>A	c.(16-18)gtC>gtA	p.V6V	NDUFA12_ENST00000547986.1_Silent_p.V6V|NDUFA12_ENST00000547157.1_Silent_p.V6V	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	6					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	CGCGTTTCAGGACCTGCACTA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	82			NA	NA	12		NA											NA				95397439		2203	4300	6503	SO:0001819	synonymous_variant			BC005936	CCDS9050.1, CCDS58263.1	12q22	2011-07-04			ENSG00000184752	ENSG00000184752	55967	55967		Mitochondrial respiratory chain complex / Complex I	23987	protein-coding gene	gene with protein product	complex I B17.2 subunit	614530			NA	10830904, 9827566	Standard	NM_018838	NM_018838	NA	Approved	DAP13, B17.2	uc001tdl.4	Q9UI09		ENST00000327772.2:c.18C>A	12.37:g.95397439G>T		NA	Q53XX0|Q9BRV6	37	CCDS9050.1																																																																																			NDUFA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407245.2		-	ENST00000327772.2	Silent	SNP	12 : 95397439 - 95397439 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	487	14
NFRKB	4798	broad.mit.edu	37	11	129739654	129739654	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr11:129739654C>T	ENST00000446488.3	-	23	3369	c.3266G>A	c.(3265-3267)cGc>cAc	p.R1089H	NFRKB_ENST00000304521.5_Missense_Mutation_p.R1089H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R1114H|NFRKB_ENST00000524746.1_Missense_Mutation_p.R1089H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1089					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGCACGATGCGGATCGTGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	132	120	124		3266,3341	5.3	1	11		124	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	NFRKB	NM_001143835.1,NM_006165.3	29,29	0,1,6497	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	1089/1300,1114/1325	129739654	1,12995	2201	4297	6498	SO:0001583	missense				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322	4798	4798		INO80 complex subunits	7802	protein-coding gene	gene with protein product	nuclear factor related to kappa B binding protein, DNA-binding protein R kappa B, INO80 complex subunit G	164013			NA	1427843	Standard	NM_006165	NM_006165	NA	Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3266G>A	11.37:g.129739654C>T	ENSP00000400476:p.Arg1089His	NA	Q12869|Q15312|Q9H048	37	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063126	0.93898	0.0	1.16E-4	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	T	0.69975	-0.4999	9	0.52906	T	0.07	-11.2341	18.9658	0.92695	0.0:1.0:0.0:0.0	.	1089;1088;1114	Q6P4R8;Q6P4R8-3;Q6P4R8-2	NFRKB_HUMAN;.;.	H	1089;1089;1114;1089	.	ENSP00000303800:R1089H	R	-	2	0	NFRKB	129244864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.474000	0.83562	0.655000	0.94253	CGC	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386063.2		-	ENST00000446488.3	Missense_Mutation	SNP	11 : 129739654 - 129739654 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	521	5
NOTCH1	4851	broad.mit.edu	37	9	139414008	139414008	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr9:139414008C>T	ENST00000277541.6	-	5	827	c.752G>A	c.(751-753)gGc>gAc	p.G251D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	251	EGF-like 6.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACAGTTCTGGCCGGTGAAGCC	0.622		NA	T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		9	9q34.3	4851	Notch homolog 1, translocation-associated (Drosophila) (TAN1)		L	0													93	115	108			NA	NA	9		NA											NA				139414008		2039	4193	6232	SO:0001583	missense			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400	4851	4851		Ankyrin repeat domain containing	7881	protein-coding gene	gene with protein product		190198	Notch (Drosophila) homolog 1 (translocation-associated), Notch homolog 1, translocation-associated (Drosophila)	TAN1	NA	1831692	Standard	NM_017617	NM_017617	NA	Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.752G>A	9.37:g.139414008C>T	ENSP00000277541:p.Gly251Asp	NA	Q59ED8|Q5SXM3	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955174	0.92726	.	.	ENSG00000148400	ENST00000277541	D	0.99105	-5.43	5.12	5.12	0.69794	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	M	0.92833	3.35	0.80722	D	1	D	0.63046	0.992	D	0.70016	0.967	D	0.98604	1.0660	10	0.66056	D	0.02	.	16.0241	0.80528	0.0:1.0:0.0:0.0	.	251	P46531	NOTC1_HUMAN	D	251	ENSP00000277541:G251D	ENSP00000277541:G251D	G	-	2	0	NOTCH1	138533829	1.000000	0.71417	0.945000	0.38365	0.820000	0.46376	7.653000	0.83643	2.381000	0.81170	0.561000	0.74099	GGC	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055087.1		-	ENST00000277541.6	Missense_Mutation	SNP	9 : 139414008 - 139414008 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	935	7
NRXN1	9378	broad.mit.edu	37	2	51254893	51254893	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:51254893C>T	ENST00000404971.1	-	2	1858	c.519G>A	c.(517-519)tcG>tcA	p.S173S	NRXN1_ENST00000401669.2_Silent_p.S173S|NRXN1_ENST00000406316.2_Silent_p.S173S|NRXN1_ENST00000405472.3_Silent_p.S173S|NRXN1_ENST00000406859.3_Silent_p.S173S|NRXN1_ENST00000402717.3_Silent_p.S173S|NRXN1_ENST00000405581.1_Silent_p.S173S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	173	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTCCCTCACCGAGGCCAGGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	30	28			NA	NA	2		NA											NA				51254893		2053	4178	6231	SO:0001819	synonymous_variant			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915	9378	9378			8008	protein-coding gene	gene with protein product		600565			NA		Standard		NM_001135659	NA	Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000404971.1:c.519G>A	2.37:g.51254893C>T		NA	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	37	CCDS46282.1																																																																																			NRXN1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323894.3		-	ENST00000404971.1	Silent	SNP	2 : 51254893 - 51254893 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	115	36
OCA2	4948	broad.mit.edu	37	15	28263652	28263652	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr15:28263652G>T	ENST00000353809.5	-	7	807	c.698C>A	c.(697-699)gCa>gAa	p.A233E	OCA2_ENST00000354638.3_Missense_Mutation_p.A233E|OCA2_ENST00000382996.2_Missense_Mutation_p.A233E			Q04671	P_HUMAN	oculocutaneous albinism II	233					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TAGGGCCCCTGCCAGGTCCAC	0.647		NA							Oculocutaneous Albinism					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	24	25			NA	NA	15		NA											NA				28263652		2201	4299	6500	SO:0001583	missense	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044	4948	4948			8101	protein-coding gene	gene with protein product	melanocyte-specific transporter protein	611409	oculocutaneous albinism II (pink-eye dilution (murine) homolog), eye color 3 (brown), eye color 2 (central brown), oculocutaneous albinism II (pink-eye dilution homolog, mouse)	D15S12, P, EYCL3, EYCL2	NA		Standard	NM_000275	NM_000275	NA	Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000353809.5:c.698C>A	15.37:g.28263652G>T	ENSP00000261276:p.Ala233Glu	NA	Q15211|Q15212|Q96EN1|Q9UMI5	37		.	.	.	.	.	.	.	.	.	.	G	11.17	1.558383	0.27827	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000431101	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.54	2.47	0.30058	.	0.354079	0.28130	N	0.016485	T	0.47746	0.1462	M	0.61703	1.905	0.24313	N	0.99508	P;B	0.35944	0.529;0.36	B;B	0.36567	0.228;0.09	T	0.41520	-0.9504	10	0.02654	T	1	-4.3929	3.9439	0.09339	0.1888:0.0:0.5739:0.2373	.	233;233	Q04671-2;Q04671	.;P_HUMAN	E	233	ENSP00000346659:A233E;ENSP00000261276:A233E;ENSP00000372457:A233E;ENSP00000415431:A233E	ENSP00000261276:A233E	A	-	2	0	OCA2	25937247	0.795000	0.28851	0.641000	0.29422	0.139000	0.21198	0.946000	0.29069	0.565000	0.29255	-0.136000	0.14681	GCA	OCA2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250824.1		-	ENST00000353809.5	Missense_Mutation	SNP	15 : 28263652 - 28263652 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	144	46
OIT3	170392	broad.mit.edu	37	10	74671488	74671488	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr10:74671488C>T	ENST00000334011.5	+	5	899	c.681C>T	c.(679-681)tgC>tgT	p.C227C		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	227						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTGAAGGATGCCACAATAACA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(7;19 345 13446 17537)							NA				0													115	106	109			NA	NA	10		NA											NA				74671488		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315	170392	170392			29953	protein-coding gene	gene with protein product		609330			NA	12975309, 12939600	Standard	NM_152635	NM_152635	NA	Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.681C>T	10.37:g.74671488C>T		NA	A0AVP3|Q8N1M8	37	CCDS7318.1																																																																																			OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048596.1		+	ENST00000334011.5	Silent	SNP	10 : 74671488 - 74671488 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	614	5
OR2AK2	391191	broad.mit.edu	37	1	248129097	248129097	+	Missense_Mutation	SNP	T	T	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:248129097T>G	ENST00000366480.3	+	1	563	c.464T>G	c.(463-465)aTc>aGc	p.I155S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGCAAGAAGATCTGCTGCCTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(45;390 1181 23848 28461 41504)							NA				0													262	233	243			NA	NA	1		NA											NA				248129097		2203	4300	6503	SO:0001583	missense			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080	391191	391191		GPCR / Class A : Olfactory receptors	19569	protein-coding gene	gene with protein product				OR2AK1P	NA		Standard	NM_001004491	NM_001004491	NA	Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.464T>G	1.37:g.248129097T>G	ENSP00000355436:p.Ile155Ser	NA	B2RND1|Q6IF05	37	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	12.99	2.103841	0.37145	.	.	ENSG00000187080	ENST00000366480	T	0.00164	8.64	3.03	-3.31	0.04988	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	L	0.33485	1.01	0.09310	N	1	D	0.56746	0.977	P	0.60541	0.876	T	0.46303	-0.9201	9	0.87932	D	0	.	4.6463	0.12574	0.1485:0.3771:0.0:0.4744	.	155	Q8NG84	O2AK2_HUMAN	S	155	ENSP00000355436:I155S	ENSP00000355436:I155S	I	+	2	0	OR2AK2	246195720	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.382000	0.20635	-0.847000	0.04168	-0.475000	0.04921	ATC	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096858.2		+	ENST00000366480.3	Missense_Mutation	SNP	1 : 248129097 - 248129097 G PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	1126	9
OR4N2	390429	broad.mit.edu	37	14	20295937	20295937	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:20295937G>A	ENST00000568211.1	+	1	330	c.330G>A	c.(328-330)ggG>ggA	p.G110G	OR4N2_ENST00000315947.1_Silent_p.G110G			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGAGGAGGGGAGGGATTAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	126	122			NA	NA	14		NA											NA				20295937		2203	4297	6500	SO:0001819	synonymous_variant				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294	390429	390429		GPCR / Class A : Olfactory receptors	14742	protein-coding gene	gene with protein product					NA		Standard		NM_001004723	NA	Approved		uc010tkv.2	Q8NGD1		ENST00000568211.1:c.330G>A	14.37:g.20295937G>A		NA	Q6IEY9|Q6IFA2	37	CCDS32022.1																																																																																			OR4N2-004	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419867.1		+	ENST00000568211.1	Silent	SNP	14 : 20295937 - 20295937 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	864	22
P2RX1	5023	broad.mit.edu	37	17	3807664	3807664	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:3807664G>A	ENST00000225538.3	-	4	661	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	129					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TACAGCCACTGTCTTCCTTGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	57	62			NA	NA	17		NA											NA				3807664		2203	4300	6503	SO:0001819	synonymous_variant			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405	5023	5023		Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic	8533	protein-coding gene	gene with protein product		600845			NA	8834001	Standard	NM_002558	NM_002558	NA	Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.387C>T	17.37:g.3807664G>A		NA	Q9UK84	37	CCDS11040.1																																																																																			P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438391.1		-	ENST00000225538.3	Silent	SNP	17 : 3807664 - 3807664 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	230	10
PAPLN	89932	broad.mit.edu	37	14	73733472	73733472	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:73733472C>G	ENST00000340738.5	+	24	3454	c.3352C>G	c.(3352-3354)Cca>Gca	p.P1118A	PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000554301.1_Missense_Mutation_p.P1145A|PAPLN_ENST00000555445.1_Missense_Mutation_p.P1129A|PAPLN_ENST00000427855.1_Missense_Mutation_p.P1145A	NM_173462.3	NP_775733.3	O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1145	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGTGACAGTGCCAGAGGGTGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	133	148			NA	NA	14		NA											NA				73733472		2203	4300	6503	SO:0001583	missense			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767	89932	89932		Immunoglobulin superfamily / I-set domain containing	19262	protein-coding gene	gene with protein product					NA	11076767, 19734141	Standard	NM_173462	NM_173462	NA	Approved	MGC50452	uc001xnw.4	O95428		ENST00000340738.5:c.3352C>G	14.37:g.73733472C>G	ENSP00000345395:p.Pro1118Ala	NA	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	37	CCDS32114.1	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.213152	0.01555	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.07	2.17	0.27698	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35393	0.0930	N	0.05031	-0.125	0.53005	D	0.999961	B;B;B;B	0.19073	0.001;0.001;0.033;0.002	B;B;B;B	0.19946	0.004;0.008;0.027;0.007	T	0.04065	-1.0980	9	0.30854	T	0.27	.	5.6369	0.17542	0.1071:0.5598:0.2118:0.1213	.	1129;1145;344;1118	O95428-5;O95428;O95428-2;O95428-6	.;PPN_HUMAN;.;.	A	1118;1145;1145;1129	ENSP00000345395:P1118A;ENSP00000403403:P1145A;ENSP00000451803:P1145A;ENSP00000451729:P1129A	ENSP00000345395:P1118A	P	+	1	0	PAPLN	72803225	0.370000	0.25047	0.171000	0.22900	0.001000	0.01503	-0.021000	0.12504	0.030000	0.15379	-1.268000	0.01426	CCA	PAPLN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413179.1		+	ENST00000340738.5	Missense_Mutation	SNP	14 : 73733472 - 73733472 G PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	125	37
PCDHB7	56129	broad.mit.edu	37	5	140553506	140553506	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:140553506G>A	ENST00000231137.3	+	1	1264	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	364	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCGAGACAGTCGTGGCTGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	44	43			NA	NA	5		NA											NA				140553506		2203	4300	6503	SO:0001583	missense			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212	56129	56129		Cadherins / Protocadherins : Clustered	8692	other	protocadherin		606333			NA	10380929	Standard	NM_018940	NM_018940	NA	Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1090G>A	5.37:g.140553506G>A	ENSP00000231137:p.Val364Ile	NA		37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765245	0.31228	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.51817	0.69	4.61	3.73	0.42828	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.40979	0.1139	L	0.60845	1.875	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.35475	-0.9787	9	0.41790	T	0.15	.	4.5756	0.12232	0.0834:0.1519:0.6079:0.1567	.	364	Q9Y5E2	PCDB7_HUMAN	I	364;147	ENSP00000231137:V364I	ENSP00000231137:V364I	V	+	1	0	PCDHB7	140533690	0.027000	0.19231	0.079000	0.20413	0.449000	0.32228	1.974000	0.40559	1.038000	0.40049	0.650000	0.86243	GTC	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251803.2		+	ENST00000231137.3	Missense_Mutation	SNP	5 : 140553506 - 140553506 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	253	89
PIK3C2B	5287	broad.mit.edu	37	1	204438176	204438176	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:204438176G>A	ENST00000367187.3	-	3	1311	c.755C>T	c.(754-756)gCc>gTc	p.A252V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A252V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	252	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCCCTGGTGGCATCCCGCAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	159	154			NA	NA	1		NA											NA				204438176		2203	4300	6503	SO:0001583	missense			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	5287	5287	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	phosphoinositide-3-kinase, class 2, beta polypeptide		NA	9144573, 9830063	Standard	NM_002646	NM_002646	NA	Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.755C>T	1.37:g.204438176G>A	ENSP00000356155:p.Ala252Val	NA	O95666|Q5SW99	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363906	0.61513	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.62788	0.0;0.02	5.35	5.35	0.76521	.	0.555017	0.17528	N	0.170962	T	0.50446	0.1616	N	0.22421	0.69	0.31893	N	0.616962	B;B	0.22414	0.069;0.041	B;B	0.21917	0.037;0.016	T	0.52601	-0.8554	10	0.27082	T	0.32	.	16.8496	0.85990	0.0:0.0:1.0:0.0	.	252;252	F5GWN5;O00750	.;P3C2B_HUMAN	V	252	ENSP00000356155:A252V;ENSP00000400561:A252V	ENSP00000356155:A252V	A	-	2	0	PIK3C2B	202704799	0.895000	0.30542	0.981000	0.43875	0.838000	0.47535	2.597000	0.46214	2.495000	0.84180	0.462000	0.41574	GCC	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087965.1		-	ENST00000367187.3	Missense_Mutation	SNP	1 : 204438176 - 204438176 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	1607	10
PRMT5	10419	broad.mit.edu	37	14	23391693	23391693	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:23391693G>A	ENST00000324366.8	-	15	1878	c.1655C>T	c.(1654-1656)gCc>gTc	p.A552V	PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.A508V|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.A535V|PRMT5_ENST00000538452.1_Missense_Mutation_p.A446V|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.A491V|PRMT5_ENST00000397440.4_Missense_Mutation_p.A381V	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	552					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AAAGTAGCCGGCAAAGCCATG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	218	216			NA	NA	14		NA											NA				23391693		2203	4300	6503	SO:0001583	missense			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	10419	10419	2.1.1.125	Protein arginine methyltransferases	10894	protein-coding gene	gene with protein product		604045	skb1 (S. pombe) homolog, SKB1 homolog (S. pombe)	HRMT1L5, SKB1	NA	9843966	Standard		NM_001282955	NA	Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1655C>T	14.37:g.23391693G>A	ENSP00000319169:p.Ala552Val	NA	B5BU10|D3DS33|Q6IBR1|Q9UKH1	37	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518793	0.85495	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000555454;ENST00000538452;ENST00000553897	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.79	5.79	0.91817	.	0.046588	0.85682	D	0.000000	T	0.44286	0.1286	M	0.87547	2.89	0.80722	D	1	P;B;P;P;P	0.46142	0.694;0.416;0.792;0.832;0.873	B;B;P;B;P	0.48952	0.328;0.285;0.596;0.389;0.457	T	0.49542	-0.8929	10	0.66056	D	0.02	-12.7059	18.796	0.91994	0.0:0.0:1.0:0.0	.	508;491;381;552;535	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	V	552;535;381;491;151;446;508	ENSP00000319169:A552V;ENSP00000380583:A535V;ENSP00000380582:A381V;ENSP00000216350:A491V;ENSP00000451245:A151V;ENSP00000444915:A446V;ENSP00000452555:A508V	ENSP00000216350:A491V	A	-	2	0	PRMT5	22461533	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.655000	0.91098	2.750000	0.94351	0.561000	0.74099	GCC	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071674.3		-	ENST00000324366.8	Missense_Mutation	SNP	14 : 23391693 - 23391693 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	932	9
PTPRN2	5799	broad.mit.edu	37	7	157929382	157929382	+	Missense_Mutation	SNP	C	C	T	rs144837405		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:157929382C>T	ENST00000389413.3	-	8	1241	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R	PTPRN2_ENST00000389418.4_Missense_Mutation_p.G380R|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G342R|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G363R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G403R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	380						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCTGCACTCCGTCATCTGTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	187	147	160		1138,1087,1138	-4.7	0	7	dbSNP_134	160	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	125,125,125	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	benign,benign,benign	380/1016,363/999,380/987	157929382	2,13004	2203	4300	6503	SO:0001583	missense			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093	5799	5799		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like	9677	protein-coding gene	gene with protein product	IAR PTPRP	601698			NA	8954911, 9220540	Standard		NM_130842	NA	Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389413.3:c.1138G>A	7.37:g.157929382C>T	ENSP00000374064:p.Gly380Arg	NA	Q8N4I5|Q92662|Q9Y4F8	37	CCDS5949.1	.	.	.	.	.	.	.	.	.	.	C	5.514	0.279739	0.10458	0.0	2.33E-4	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02656	4.21;4.22;4.24;4.23;4.23	4.54	-4.67	0.03319	.	.	.	.	.	T	0.01156	0.0038	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.0;0.0	T	0.49428	-0.8941	9	0.12430	T	0.62	.	6.5936	0.22659	0.0:0.4711:0.1567:0.3722	.	403;342;380;363;380	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	R	342;380;363;380;403	ENSP00000387114:G342R;ENSP00000374064:G380R;ENSP00000374067:G363R;ENSP00000374069:G380R;ENSP00000385464:G403R	ENSP00000374064:G380R	G	-	1	0	PTPRN2	157622143	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.284000	0.02793	-0.743000	0.04784	-1.056000	0.02311	GGA	PTPRN2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327121.1		-	ENST00000389413.3	Missense_Mutation	SNP	7 : 157929382 - 157929382 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	722	98
PURB	5814	broad.mit.edu	37	7	44924053	44924053	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:44924053C>T	ENST00000395699.2	-	1	907	c.895G>A	c.(895-897)Ggc>Agc	p.G299S		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	299					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	77	76			NA	NA	7		NA											NA				44924053		2203	4300	6503	SO:0001583	missense				CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676	5814	5814			9702	protein-coding gene	gene with protein product		608887			NA	1448097	Standard	NM_033224	NM_033224	NA	Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.895G>A	7.37:g.44924053C>T	ENSP00000379051:p.Gly299Ser	NA	A4D2L7	37	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923148	0.52653	.	.	ENSG00000146676	ENST00000395699	T	0.29655	1.56	3.06	3.06	0.35304	.	0.137657	0.27549	U	0.018864	T	0.31104	0.0786	N	0.14661	0.345	0.35690	D	0.81476	D	0.89917	1.0	D	0.65684	0.937	T	0.19063	-1.0317	10	0.16896	T	0.51	.	12.3432	0.55105	0.0:1.0:0.0:0.0	.	299	Q96QR8	PURB_HUMAN	S	299	ENSP00000379051:G299S	ENSP00000379051:G299S	G	-	1	0	PURB	44890578	0.980000	0.34600	0.998000	0.56505	0.984000	0.73092	3.212000	0.51145	1.998000	0.58463	0.591000	0.81541	GGC	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251332.2		-	ENST00000395699.2	Missense_Mutation	SNP	7 : 44924053 - 44924053 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	698	5
PUS1	80324	broad.mit.edu	37	12	132426131	132426131	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:132426131C>T	ENST00000535067.1	+	3	519				PUS1_ENST00000542167.2_Missense_Mutation_p.A227V|PUS1_ENST00000376649.3_Missense_Mutation_p.A280V|PUS1_ENST00000440818.2_Missense_Mutation_p.A252V|PUS1_ENST00000443358.2_Missense_Mutation_p.A252V			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	NA						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CTGGAGTTTGCGGTGATCAGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(102;671 2009 17384 45666)							NA				0													136	130	132			NA	NA	12		NA											NA				132426131		2203	4300	6503	SO:0001627	intron_variant			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192	80324	80324			15508	protein-coding gene	gene with protein product		608109			NA	10094309	Standard	NM_025215	NM_001002019	NA	Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000535067.1:c.358-1953C>T	12.37:g.132426131C>T		NA	A8K877|B3KQC1|Q8WYT2|Q9BU44	37		.	.	.	.	.	.	.	.	.	.	C	6.776	0.512094	0.12944	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.28	4.39	0.52855	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	N	0.01464	-0.85	0.80722	D	1	P;P	0.36027	0.477;0.533	B;B	0.34652	0.117;0.187	T	0.29882	-0.9997	10	0.02654	T	1	-15.1815	13.9305	0.63991	0.0:0.9264:0.0:0.0736	.	227;280	F5H1S9;Q9Y606	.;TRUA_HUMAN	V	252;280;252;252;227	ENSP00000392451:A252V;ENSP00000365837:A280V;ENSP00000324726:A252V;ENSP00000400032:A252V;ENSP00000438948:A227V	ENSP00000324726:A252V	A	+	2	0	PUS1	130992084	1.000000	0.71417	0.424000	0.26647	0.609000	0.37215	7.818000	0.86416	1.240000	0.43803	0.491000	0.48974	GCG	PUS1-010	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397786.1		+	ENST00000535067.1	Intron	SNP	12 : 132426131 - 132426131 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	407	6
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	103	101			NA	NA	2		NA											NA				109371498		2198	4282	6480	SO:0001819	synonymous_variant			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1																																																																																			RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Silent	SNP	2 : 109371498 - 109371498 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	1664	11
RIPK4	54101	broad.mit.edu	37	21	43161920	43161920	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr21:43161920G>A	ENST00000332512.3	-	8	1497	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	RIPK4_ENST00000542057.1_Missense_Mutation_p.A415V|RIPK4_ENST00000544709.1_Missense_Mutation_p.A415V|RIPK4_ENST00000352483.2_Missense_Mutation_p.A526V	NM_020639.2	NP_065690.2	Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	478						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCTCCACGGCCATGTGCAA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	84	87			NA	NA	21		NA											NA				43161920		2203	4300	6503	SO:0001583	missense			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421	54101	54101		Ankyrin repeat domain containing	496	protein-coding gene	gene with protein product	protein kinase C-associated kinase, PKC-delta-interacting protein kinase	605706	ankyrin repeat domain 3	ANKRD3	NA	10830953	Standard	NM_020639	NM_020639	NA	Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000332512.3:c.1433C>T	21.37:g.43161920G>A	ENSP00000332454:p.Ala478Val	NA		37	CCDS13675.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582656	0.65992	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000009	D	0.91771	0.7397	M	0.91717	3.235	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.93696	0.7011	10	0.87932	D	0	-21.0025	17.3446	0.87307	0.0:0.0:1.0:0.0	.	478	P57078-2	.	V	478;526;415;415;217	ENSP00000332454:A478V;ENSP00000330161:A526V;ENSP00000441754:A415V;ENSP00000442901:A415V	ENSP00000330975:A217V	A	-	2	0	RIPK4	42034989	1.000000	0.71417	0.975000	0.42487	0.078000	0.17371	9.606000	0.98325	2.313000	0.78055	0.655000	0.94253	GCC	RIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195204.1		-	ENST00000332512.3	Missense_Mutation	SNP	21 : 43161920 - 43161920 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	611	6
RNF157	114804	broad.mit.edu	37	17	74148532	74148532	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:74148532C>T	ENST00000269391.6	-	18	1957	c.1825G>A	c.(1825-1827)Gca>Aca	p.A609T	RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157_ENST00000319945.6_Missense_Mutation_p.A587T|RNF157-AS1_ENST00000585542.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	609							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTAGAAATGCGCACGTCCTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(186;507 2120 27388 27773 52994)							NA				0													259	210	227			NA	NA	17		NA											NA				74148532		2203	4300	6503	SO:0001583	missense			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576	114804	114804		RING-type (C3HC4) zinc fingers	29402	protein-coding gene	gene with protein product					NA	11572484	Standard	XM_290732	NM_052916	NA	Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1825G>A	17.37:g.74148532C>T	ENSP00000269391:p.Ala609Thr	NA	Q8NB72|Q96N56	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649353	0.67358	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.36699	1.7;1.24	5.71	4.68	0.58851	.	0.088535	0.49305	D	0.000154	T	0.35335	0.0928	L	0.54323	1.7	0.80722	D	1	P;P	0.52170	0.951;0.84	B;B	0.41946	0.371;0.089	T	0.24835	-1.0149	10	0.52906	T	0.07	-1.2912	13.8657	0.63588	0.1522:0.8478:0.0:0.0	.	587;609	Q96PX1-2;Q96PX1	.;RN157_HUMAN	T	609;587	ENSP00000269391:A609T;ENSP00000321837:A587T	ENSP00000269391:A609T	A	-	1	0	RNF157	71660127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.443000	0.44881	2.684000	0.91462	0.655000	0.94253	GCA	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255874.2		-	ENST00000269391.6	Missense_Mutation	SNP	17 : 74148532 - 74148532 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	398	6
RNF213	57674	broad.mit.edu	37	17	78321225	78321225	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:78321225G>A	ENST00000508628.2	+	30	9382	c.9237G>A	c.(9235-9237)ccG>ccA	p.P3079P	RNF213_ENST00000582970.1_Silent_p.P3030P|RNF213_ENST00000336301.6_Silent_p.P1103P			Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAAGGTGCCGGGTGGAGAGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	54	56			NA	NA	17		NA											NA				78321225		2203	4300	6503	SO:0001819	synonymous_variant			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.9237G>A	17.37:g.78321225G>A		NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37																																																																																				RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Silent	SNP	17 : 78321225 - 78321225 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	290	84
RNF43	54894	broad.mit.edu	37	17	56440757	56440757	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:56440757G>A	ENST00000584437.1	-	4	2416	c.461C>T	c.(460-462)cCg>cTg	p.P154L	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.P27L|RNF43_ENST00000577716.1_Missense_Mutation_p.P154L|RNF43_ENST00000500597.2_Missense_Mutation_p.P113L|RNF43_ENST00000407977.2_Missense_Mutation_p.P154L|RNF43_ENST00000581868.1_Missense_Mutation_p.P27L|RNF43_ENST00000583753.1_Missense_Mutation_p.P113L			Q68DV7	RNF43_HUMAN	ring finger protein 43	154						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCCCCAGCGGCTGCTGCAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	101	99			NA	NA	17		NA											NA				56440757		2203	4300	6503	SO:0001583	missense				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.461C>T	17.37:g.56440757G>A	ENSP00000463069:p.Pro154Leu	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	35	5.475540	0.96291	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.27104	1.69;3.06	5.68	5.68	0.88126	.	0.187766	0.47093	D	0.000257	T	0.30103	0.0754	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.995;0.993;0.997	P;P;P	0.54140	0.743;0.721;0.551	T	0.01725	-1.1287	10	0.34782	T	0.22	-8.5077	18.7682	0.91881	0.0:0.0:1.0:0.0	.	113;154;154	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	154;113	ENSP00000385328:P154L;ENSP00000441969:P113L	ENSP00000385328:P154L	P	-	2	0	RNF43	53795756	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.661000	0.91125	2.684000	0.91462	0.591000	0.81541	CCG	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Missense_Mutation	SNP	17 : 56440757 - 56440757 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	594	174
RPS6KA2	6196	broad.mit.edu	37	6	166844030	166844030	+	Missense_Mutation	SNP	T	T	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:166844030T>G	ENST00000405189.3	-	16	1557	c.1225A>C	c.(1225-1227)Atc>Ctc	p.I409L	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.I506L|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.I409L|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.I498L|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.I523L			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	498					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGCCGGAGGATGCGGTCCAGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	103	110			NA	NA	6		NA											NA				166844030		2203	4300	6503	SO:0001583	missense			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242	6196	6196			10431	protein-coding gene	gene with protein product		601685	ribosomal protein S6 kinase, 90kD, polypeptide 2		NA	8141249	Standard	NM_021135	NM_001006932	NA	Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000405189.3:c.1225A>C	6.37:g.166844030T>G	ENSP00000386050:p.Ile409Leu	NA	Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	37		.	.	.	.	.	.	.	.	.	.	T	14.06	2.422481	0.43020	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	3.63	3.63	0.41609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128885	0.50627	D	0.000112	T	0.53818	0.1820	N	0.25031	0.7	0.80722	D	1	B;B;B	0.31989	0.052;0.042;0.35	B;B;P	0.55545	0.413;0.166;0.778	T	0.58657	-0.7598	10	0.33940	T	0.23	.	11.8701	0.52515	0.0:0.0:0.0:1.0	.	523;506;498	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	L	498;523;506;409;409	ENSP00000265678:I498L;ENSP00000422435:I523L;ENSP00000427015:I506L;ENSP00000422484:I409L;ENSP00000386050:I409L	ENSP00000265678:I498L	I	-	1	0	RPS6KA2	166764020	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	7.272000	0.78516	1.661000	0.50771	0.402000	0.26972	ATC	RPS6KA2-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000362838.2		-	ENST00000405189.3	Missense_Mutation	SNP	6 : 166844030 - 166844030 G PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	197	11
SCARA5	286133	broad.mit.edu	37	8	27824044	27824044	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:27824044C>T	ENST00000354914.3	-	3	613	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	SCARA5_ENST00000524352.1_Missense_Mutation_p.R43Q|SCARA5_ENST00000380385.2_Missense_Mutation_p.R43Q|SCARA5_ENST00000518030.1_Intron|SCARA5_ENST00000301906.4_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	43					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCTTGCCCGCCGTTTGTGACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	101	98			NA	NA	8		NA											NA				27824044		2203	4300	6503	SO:0001583	missense			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079	286133	286133			28701	protein-coding gene	gene with protein product		611306	scavenger receptor class A, member 5 (putative)		NA	19154717	Standard	NM_173833	NM_173833	NA	Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.128G>A	8.37:g.27824044C>T	ENSP00000346990:p.Arg43Gln	NA	Q6UXZ1|Q7Z4A1|Q8N4Z7	37	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.554049	0.65425	.	.	ENSG00000168079	ENST00000354914;ENST00000380385;ENST00000524352	D;D;D	0.92299	-2.56;-2.5;-3.01	5.93	5.93	0.95920	.	0.128700	0.49305	D	0.000152	D	0.91043	0.7182	M	0.62723	1.935	0.80722	D	1	P;D;P	0.61697	0.927;0.99;0.949	P;P;B	0.44359	0.447;0.447;0.261	D	0.89580	0.3820	10	0.30078	T	0.28	.	15.8364	0.78801	0.0:1.0:0.0:0.0	.	43;43;43	Q6ZMJ2-4;Q6ZMJ2-2;Q6ZMJ2	.;.;SCAR5_HUMAN	Q	43	ENSP00000346990:R43Q;ENSP00000369746:R43Q;ENSP00000428663:R43Q	ENSP00000346990:R43Q	R	-	2	0	SCARA5	27879963	0.312000	0.24545	0.847000	0.33407	0.982000	0.71751	1.699000	0.37804	2.814000	0.96858	0.563000	0.77884	CGG	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255223.2		-	ENST00000354914.3	Missense_Mutation	SNP	8 : 27824044 - 27824044 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	573	5
SCN9A	6335	broad.mit.edu	37	2	167133600	167133600	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:167133600C>T	ENST00000409672.1	-	16	3080	c.2734G>A	c.(2734-2736)Gtg>Atg	p.V912M	SCN9A_ENST00000375387.4_Missense_Mutation_p.V924M|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.V924M|SCN9A_ENST00000409435.1_Missense_Mutation_p.V923M	NM_002977.3	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	923						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCACACAGCACGCGGAACACA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													202	193	196			NA	NA	2		NA											NA				167133600		2203	4297	6500	SO:0001583	missense			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432	6335	6335		Sodium channels, Voltage-gated ion channels / Sodium channels	10597	protein-coding gene	gene with protein product		603415	sodium channel, voltage-gated, type IX, alpha polypeptide		NA	7720699, 10198179, 16382098	Standard	NM_002977	NM_002977	NA	Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409672.1:c.2734G>A	2.37:g.167133600C>T	ENSP00000386306:p.Val912Met	NA	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703467	0.88924	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000013	D	0.98620	0.9538	L	0.55834	1.745	0.58432	D	0.999994	D	0.89917	1.0	D	0.81914	0.995	D	0.99865	1.1088	10	0.87932	D	0	.	20.096	0.97843	0.0:1.0:0.0:0.0	.	912	E7EUN6	.	M	912;924;924;923	ENSP00000386306:V912M;ENSP00000364536:V924M;ENSP00000304748:V924M;ENSP00000386330:V923M	ENSP00000304748:V924M	V	-	1	0	SCN9A	166841846	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.715000	0.84713	2.819000	0.97034	0.650000	0.86243	GTG	SCN9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333636.1		-	ENST00000409672.1	Missense_Mutation	SNP	2 : 167133600 - 167133600 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	1128	60
SEMA3E	9723	broad.mit.edu	37	7	83014659	83014659	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:83014659G>A	ENST00000307792.3	-	16	2293	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	609	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAACTTTCGCTTGTAAAGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	180	185			NA	NA	7		NA											NA				83014659		2203	4300	6503	SO:0001583	missense			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381	9723	9723		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10727	protein-coding gene	gene with protein product	M-sema H	608166		SEMAH	NA	9205841, 9515811	Standard	NM_012431	NM_012431	NA	Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1826C>T	7.37:g.83014659G>A	ENSP00000303212:p.Ala609Val	NA	Q75M94|Q75M97	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430525	0.96150	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.19394	2.15;2.15	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	T	0.49854	-0.8895	10	0.59425	D	0.04	.	19.4854	0.95027	0.0:0.0:1.0:0.0	.	609	O15041	SEM3E_HUMAN	V	609;549;609	ENSP00000303212:A609V;ENSP00000405052:A549V	ENSP00000303212:A609V	A	-	2	0	SEMA3E	82852595	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.255000	0.95524	2.597000	0.87782	0.650000	0.86243	GCG	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336606.1		-	ENST00000307792.3	Missense_Mutation	SNP	7 : 83014659 - 83014659 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	798	8
SFMBT2	57713	broad.mit.edu	37	10	7218087	7218087	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr10:7218087G>A	ENST00000361972.4	-	17	1939	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R617W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	617					regulation of transcription, DNA-dependent	nucleus		p.R617G(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCAGATGTCCGTACGATTTTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											108	107	107			NA	NA	10		NA											NA				7218087		2203	4300	6503	SO:0001583	missense			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879	57713	57713		Sterile alpha motif (SAM) domain containing	20256	protein-coding gene	gene with protein product		615392	Scm-related gene containing four mbt domains 2		NA	10997877	Standard	NM_001029880	NM_001029880	NA	Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1849C>T	10.37:g.7218087G>A	ENSP00000355109:p.Arg617Trp	NA	A7MD09|Q9HCF5	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648095	0.67358	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.47528	0.84;0.84	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72868	-0.4162	10	0.72032	D	0.01	.	16.3303	0.83006	0.0:0.0:0.8669:0.1331	.	617	Q5VUG0	SMBT2_HUMAN	W	617	ENSP00000355109:R617W;ENSP00000380353:R617W	ENSP00000355109:R617W	R	-	1	2	SFMBT2	7258093	1.000000	0.71417	0.041000	0.18516	0.283000	0.27025	5.140000	0.64807	1.468000	0.48064	0.655000	0.94253	CGG	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046673.1		-	ENST00000361972.4	Missense_Mutation	SNP	10 : 7218087 - 7218087 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	603	6
SIAH2	6478	broad.mit.edu	37	3	150460176	150460176	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:150460176G>C	ENST00000312960.3	-	2	1254	c.727C>G	c.(727-729)Cag>Gag	p.Q243E		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	243	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAAAACTGCTGGTGGCCTTCG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	88	92			NA	NA	3		NA											NA				150460176		2203	4300	6503	SO:0001583	missense			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6478	6478	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	seven in absentia (Drosophila) homolog 2, seven in absentia homolog 2 (Drosophila)		NA	9334332	Standard	NM_005067	NM_005067	NA	Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.727C>G	3.37:g.150460176G>C	ENSP00000322457:p.Gln243Glu	NA	O43270	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372610	0.82573	.	.	ENSG00000181788	ENST00000312960	T	0.25749	1.78	5.67	4.79	0.61399	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	M	0.83603	2.65	0.54753	D	0.999986	B	0.27450	0.179	B	0.32805	0.153	T	0.19418	-1.0306	10	0.25106	T	0.35	.	15.8794	0.79193	0.0:0.0:0.8633:0.1367	.	243	O43255	SIAH2_HUMAN	E	243	ENSP00000322457:Q243E	ENSP00000322457:Q243E	Q	-	1	0	SIAH2	151942866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.848000	0.99507	1.349000	0.45751	0.591000	0.81541	CAG	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357697.1		-	ENST00000312960.3	Missense_Mutation	SNP	3 : 150460176 - 150460176 C PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	326	112
SLC17A3	10786	broad.mit.edu	37	6	25845701	25845701	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:25845701G>A	ENST00000397060.4	-	12	1515	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	SLC17A3_ENST00000361703.6_Missense_Mutation_p.A391V|SLC17A3_ENST00000360657.3_Missense_Mutation_p.A391V	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	391					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGGTTAACGGCAAACAGCAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	137	141			NA	NA	6		NA											NA				25845701		2203	4300	6503	SO:0001583	missense			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564	10786	10786		Solute carriers	10931	protein-coding gene	gene with protein product		611034	solute carrier family 17 (sodium phosphate), member 3		NA	9149941	Standard		NM_006632	NA	Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000397060.4:c.1406C>T	6.37:g.25845701G>A	ENSP00000380250:p.Ala469Val	NA	B7WNJ5|Q8WWC7|Q9H533	37	CCDS47385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.460762|3.460762	0.63513|0.63513	.|.	.|.	ENSG00000124564|ENSG00000124564	ENST00000505420;ENST00000397060;ENST00000360657;ENST00000361703|ENST00000481949	T;T;T;T|.	0.58940|.	0.38;0.3;0.3;0.3|.	4.78|4.78	3.91|3.91	0.45181|0.45181	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.141196|.	0.32533|.	N|.	0.005969|.	T|T	0.36880|0.36880	0.0983|0.0983	L|L	0.46741|0.46741	1.465|1.465	0.36016|0.36016	D|D	0.838379|0.838379	B;P|.	0.43973|.	0.165;0.823|.	B;P|.	0.48089|.	0.081;0.566|.	T|T	0.24119|0.24119	-1.0169|-1.0169	10|5	0.48119|.	T|.	0.1|.	.|.	9.3173|9.3173	0.37941|0.37941	0.1012:0.0:0.8988:0.0|0.1012:0.0:0.8988:0.0	.|.	469;391|.	B7Z511;O00476|.	.;NPT4_HUMAN|.	V|S	22;469;391;391|70	ENSP00000424027:A22V;ENSP00000380250:A469V;ENSP00000353873:A391V;ENSP00000355307:A391V|.	ENSP00000353873:A391V|.	A|P	-|-	2|1	0|0	SLC17A3|SLC17A3	25953680|25953680	0.135000|0.135000	0.22499|0.22499	0.305000|0.305000	0.25099|0.25099	0.036000|0.036000	0.12997|0.12997	1.724000|1.724000	0.38064|0.38064	1.130000|1.130000	0.42092|0.42092	0.591000|0.591000	0.81541|0.81541	GCC|CCG	SLC17A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040071.5		-	ENST00000397060.4	Missense_Mutation	SNP	6 : 25845701 - 25845701 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	403	6
SLC44A4	80736	broad.mit.edu	37	6	31832445	31832445	+	Silent	SNP	C	C	T	rs146889731		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:31832445C>T	ENST00000229729.6	-	20	2015	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	SLC44A4_ENST00000544672.1_Silent_p.T589T|SLC44A4_ENST00000375562.4_Silent_p.T623T	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	665						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGAGGAAGAGCGTGTCCACAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	1,3021		0,1,1510	108	115	112		1869,1767,1995	-9.7	0.7	6	dbSNP_134	112	0,5418		0,0,2709	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC44A4	NM_001178044.1,NM_001178045.1,NM_025257.2	,,	0,1,4219	TT,TC,CC	NA	0.0,0.0331,0.0118	,,	623/669,589/635,665/711	31832445	1,8439	1511	2709	4220	SO:0001819	synonymous_variant			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385	80736	80736		Solute carriers	13941	protein-coding gene	gene with protein product		606107	chromosome 6 open reading frame 29	C6orf29	NA	10677542, 15715662, 24379411	Standard		NM_025257	NA	Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1995G>A	6.37:g.31832445C>T		NA	A2BED3|B0UXX8|B0UZY8|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	37	CCDS4724.2																																																																																			SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076234.3		-	ENST00000229729.6	Silent	SNP	6 : 31832445 - 31832445 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	509	114
SLC47A1	55244	broad.mit.edu	37	17	19480756	19480756	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:19480756G>A	ENST00000571335.1	+	13	1261	c.841G>A	c.(841-843)Gct>Act	p.A281T	SLC47A1_ENST00000395585.1_Missense_Mutation_p.A535T|SLC47A1_ENST00000457293.1_Missense_Mutation_p.A535T|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.A233T|SLC47A1_ENST00000270570.4_Missense_Mutation_p.A535T|RP11-1113L8.1_ENST00000574267.1_RNA			Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	519						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ACAGGACGGCGCTAAATTGTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	145	144			NA	NA	17		NA											NA				19480756		2203	4300	6503	SO:0001583	missense				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494	55244	55244		Solute carriers	25588	protein-coding gene	gene with protein product	multidrug and toxin extrusion 1	609832			NA	16330770, 16996621, 16928787	Standard	NM_018242	NM_018242	NA	Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000571335.1:c.841G>A	17.37:g.19480756G>A	ENSP00000462630:p.Ala281Thr	NA	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	37		.	.	.	.	.	.	.	.	.	.	G	6.205	0.406028	0.11754	.	.	ENSG00000142494	ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T	0.32023	1.49;1.47;1.47	5.16	-10.3	0.00346	.	2.640820	0.01350	N	0.011864	T	0.15219	0.0367	N	0.21448	0.665	0.09310	N	1	B;B;B;B	0.12013	0.0;0.0;0.001;0.005	B;B;B;B	0.09377	0.0;0.0;0.001;0.004	T	0.08597	-1.0714	10	0.15066	T	0.55	-11.0131	6.0981	0.20031	0.1985:0.1763:0.5331:0.0921	.	210;210;535;535	E7ENC3;B4DDH5;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	T	535;535;535;210;247	ENSP00000270570:A535T;ENSP00000415586:A535T;ENSP00000378951:A535T	ENSP00000270570:A535T	A	+	1	0	SLC47A1	19421348	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.188000	0.01249	-3.020000	0.00270	-0.672000	0.03802	GCT	SLC47A1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440971.2		+	ENST00000571335.1	Missense_Mutation	SNP	17 : 19480756 - 19480756 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	518	5
SMAD4	4089	broad.mit.edu	37	18	48604715	48604716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr18:48604715_48604716insA	ENST00000588745.1	+	8	1249_1250	c.1249_1250insA	c.(1249-1251)tacfs	p.Y417fs	SMAD4_ENST00000342988.3_Frame_Shift_Ins_p.Y513fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.Y513fs			Q13485	SMAD4_HUMAN	SMAD family member 4	513	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGGACCGGATTACCCAAGACAG	0.48		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.1250dupA	18.37:g.48604716_48604716dupA	ENSP00000464901:p.Tyr417fs	NA	A8K405	37	CCDS11950.1																																																																																			SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Frame_Shift_Ins	INS	18 : 48604715 - 48604716 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	265	103
SMG7	9887	broad.mit.edu	37	1	183515464	183515464	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:183515464C>T	ENST00000367537.3	+	18	2878	c.2683C>T	c.(2683-2685)Ccg>Tcg	p.P895S	SMG7_ENST00000508461.1_Missense_Mutation_p.P870S|SMG7_ENST00000515829.2_Missense_Mutation_p.P866S|SMG7_ENST00000507469.1_Missense_Mutation_p.P866S|SMG7_ENST00000456731.2_Missense_Mutation_p.P824S|SMG7_ENST00000347615.2_Missense_Mutation_p.P912S			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	912					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACCCAGAATGCCGTTTGAGGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	89	87			NA	NA	1		NA											NA				183515464		2203	4300	6503	SO:0001583	missense			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698	9887	9887			16792	protein-coding gene	gene with protein product	EST1 telomerase component homolog C (S. cerevisiae)	610964	chromosome 1 open reading frame 16, smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)	C1orf16	NA	14636577, 15721257	Standard	NM_014837	NM_173156	NA	Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000367537.3:c.2683C>T	1.37:g.183515464C>T	ENSP00000356507:p.Pro895Ser	NA	Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	37		.	.	.	.	.	.	.	.	.	.	C	14.54	2.565506	0.45694	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.61	5.61	0.85477	.	0.492382	0.20703	N	0.087223	T	0.29556	0.0737	N	0.24115	0.695	0.46458	D	0.99905	B;B;B;B;B;B	0.28713	0.22;0.19;0.084;0.137;0.191;0.19	B;B;B;B;B;B	0.29942	0.054;0.034;0.051;0.109;0.073;0.081	T	0.08722	-1.0708	10	0.27082	T	0.32	-9.5004	11.4831	0.50337	0.1457:0.7286:0.1256:0.0	.	870;895;824;866;912;866	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	S	824;895;870;912;866;866	ENSP00000407629:P824S;ENSP00000356507:P895S;ENSP00000426915:P870S;ENSP00000340766:P912S;ENSP00000425133:P866S;ENSP00000421358:P866S	ENSP00000340766:P912S	P	+	1	0	SMG7	181782087	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.030000	0.41108	2.620000	0.88729	0.655000	0.94253	CCG	SMG7-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000085204.3		+	ENST00000367537.3	Missense_Mutation	SNP	1 : 183515464 - 183515464 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	427	6
STAT6	6778	broad.mit.edu	37	12	57492807	57492807	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:57492807G>A	ENST00000537215.2	-	16	2060	c.1616C>T	c.(1615-1617)aCc>aTc	p.T539I	STAT6_ENST00000300134.3_Missense_Mutation_p.T649I|STAT6_ENST00000543873.2_Missense_Mutation_p.T649I|STAT6_ENST00000556155.1_Missense_Mutation_p.T649I|STAT6_ENST00000454075.3_Missense_Mutation_p.T649I|STAT6_ENST00000538913.2_Missense_Mutation_p.T539I	NM_001178080.1	NP_001171551.1	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	649	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCTTTCCACGGTCATCTTGAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													292	246	262			NA	NA	12		NA											NA				57492807		2203	4300	6503	SO:0001583	missense			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888	6778	6778		SH2 domain containing	11368	protein-coding gene	gene with protein product		601512			NA	9605853, 8085155	Standard	NM_003153	NM_003153	NA	Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000537215.2:c.1616C>T	12.37:g.57492807G>A	ENSP00000444530:p.Thr539Ile	NA	A8K316|Q5FBW5|Q71UP4	37	CCDS53804.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894701	0.52121	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;T	0.92048	-2.72;-2.96;-2.72;-2.72;-2.96;-2.72;-1.17	5.77	4.87	0.63330	SH2 motif (1);	0.344421	0.30473	N	0.009541	D	0.86535	0.5956	N	0.19112	0.55	0.36500	D	0.868949	P;P	0.48694	0.914;0.844	B;B	0.43623	0.425;0.313	D	0.89133	0.3511	10	0.51188	T	0.08	-11.3662	12.7493	0.57300	0.0:0.1647:0.8353:0.0	.	649;649	A8K4S9;P42226	.;STAT6_HUMAN	I	649;539;539;649;649;539;649;539;77;649	ENSP00000300134:T649I;ENSP00000445409:T539I;ENSP00000438451:T649I;ENSP00000451742:T649I;ENSP00000444530:T539I;ENSP00000401486:T649I;ENSP00000450428:T77I	ENSP00000300134:T649I	T	-	2	0	STAT6	55779074	0.998000	0.40836	0.998000	0.56505	0.954000	0.61252	3.174000	0.50847	1.417000	0.47077	0.561000	0.74099	ACC	STAT6-006	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412254.1		-	ENST00000537215.2	Missense_Mutation	SNP	12 : 57492807 - 57492807 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	618	5
TLK2	11011	broad.mit.edu	37	17	60637441	60637441	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:60637441G>A	ENST00000582809.1	+	11	1041	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	TLK2_ENST00000326270.9_Missense_Mutation_p.R262Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R262Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R230Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R230Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	262					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R262Q(17)|p.R261Q(9)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TACAAGGAACGATTAAATAGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				26	Substitution - Missense(26)	endometrium(15)|kidney(9)|central_nervous_system(2)											72	74	73			NA	NA	17		NA											NA				60637441		2203	4298	6501	SO:0001583	missense			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18					11011	11011			11842	protein-coding gene	gene with protein product		608439			NA	9427565, 10523312	Standard	NM_006852	NM_006852	NA	Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000582809.1:c.338G>A	17.37:g.60637441G>A	ENSP00000463595:p.Arg113Gln	NA	D3DU07|Q9UKI7|Q9Y4F7	37		.	.	.	.	.	.	.	.	.	.	G	17.31	3.356600	0.61293	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66460	-0.16;-0.21;-0.13;-0.21	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	N	0.26092	0.79	0.80722	D	1	D;B;B;B	0.89917	1.0;0.369;0.031;0.135	D;B;B;B	0.85130	0.997;0.074;0.016;0.012	T	0.64896	-0.6299	10	0.17369	T	0.5	.	16.8221	0.85835	0.0:0.0:1.0:0.0	.	262;230;262;262	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Q	262;230;262;230	ENSP00000275780:R262Q;ENSP00000340800:R230Q;ENSP00000316512:R262Q;ENSP00000442311:R230Q	ENSP00000316512:R262Q	R	+	2	0	TLK2	57991173	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.504000	0.97986	2.516000	0.84829	0.655000	0.94253	CGA	TLK2-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000445133.1		+	ENST00000582809.1	Missense_Mutation	SNP	17 : 60637441 - 60637441 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	283	5
TMEM176A	55365	broad.mit.edu	37	7	150498695	150498695	+	Silent	SNP	C	C	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:150498695C>A	ENST00000484928.1	+	2	638	c.57C>A	c.(55-57)atC>atA	p.I19I	TMEM176A_ENST00000461345.1_Intron|TMEM176A_ENST00000004103.3_Silent_p.I19I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	19						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCCACATCGATGTGCACA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	45	46			NA	NA	7		NA											NA				150498695		2203	4300	6503	SO:0001819	synonymous_variant			AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933	55365	55365			24930	protein-coding gene	gene with protein product		610334			NA	12097419, 8889548	Standard	NM_018487	NM_018487	NA	Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.57C>A	7.37:g.150498695C>A		NA	D3DX00|Q9NYC7	37	CCDS5909.1																																																																																			TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350222.1		+	ENST00000484928.1	Silent	SNP	7 : 150498695 - 150498695 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	356	64
TNFSF9	8744	broad.mit.edu	37	19	6534843	6534843	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr19:6534843C>T	ENST00000245817.3	+	3	569	c.531C>T	c.(529-531)gcC>gcT	p.A177A		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	177					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTGGGGCCGCCGCCCTGGCTT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0										0,4382		0,0,2191	16	18	17		531	-7.6	0	19		17	1,8579		0,1,4289	no	coding-synonymous	TNFSF9	NM_003811.3		0,1,6480	TT,TC,CC	NA	0.0117,0.0,0.0077		177/255	6534843	1,12961	2191	4290	6481	SO:0001819	synonymous_variant			U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657	8744	8744		Tumor necrosis factor (ligand) superfamily	11939	protein-coding gene	gene with protein product	receptor 4-1BB ligand, homolog of mouse 4-1BB-L	606182			NA	8405064, 8088337	Standard	NM_003811	NM_003811	NA	Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.531C>T	19.37:g.6534843C>T		NA	Q2M3S2	37	CCDS12169.1																																																																																			TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457856.1		+	ENST00000245817.3	Silent	SNP	19 : 6534843 - 6534843 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	110	34
TPI1	7167	broad.mit.edu	37	12	6979268	6979268	+	Missense_Mutation	SNP	C	C	T	rs139532537		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:6979268C>T	ENST00000229270.4	+	6	1047	c.710C>T	c.(709-711)gCg>gTg	p.A237V	TPI1_ENST00000535434.1_Missense_Mutation_p.A118V|TPI1_ENST00000396705.5_Missense_Mutation_p.A200V|TPI1_ENST00000488464.2_Missense_Mutation_p.A118V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	200					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GTCTCTGATGCGGTGGCTCAG	0.552		NA									OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	124	120	121		599,710	3.6	0	12	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TPI1	NM_000365.5,NM_001159287.1	64,64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	200/250,237/287	6979268	1,13005	2203	4300	6503	SO:0001583	missense				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	7167	7167	5.3.1.1		12009	protein-coding gene	gene with protein product		190450			NA		Standard	NM_000365	NM_000365	NA	Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.710C>T	12.37:g.6979268C>T	ENSP00000229270:p.Ala237Val	638	P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	37	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366735	0.41902	0.0	1.16E-4	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.94330	-3.4;-3.4;-3.4	5.44	3.57	0.40892	Aldolase-type TIM barrel (1);	0.213213	0.38837	U	0.001559	D	0.90748	0.7096	M	0.67569	2.06	0.18873	N	0.999984	B	0.17667	0.023	B	0.12156	0.007	T	0.83227	-0.0065	10	0.56958	D	0.05	.	8.4396	0.32808	0.4046:0.4513:0.144:0.0	.	237	P60174	TPIS_HUMAN	V	237;200;118	ENSP00000229270:A237V;ENSP00000379933:A200V;ENSP00000443599:A118V	ENSP00000229270:A237V	A	+	2	0	TPI1	6849529	0.989000	0.36119	0.048000	0.18961	0.889000	0.51656	2.951000	0.49089	0.626000	0.30322	0.462000	0.41574	GCG	TPI1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258252.1		+	ENST00000229270.4	Missense_Mutation	SNP	12 : 6979268 - 6979268 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	574	5
TRPM4	54795	broad.mit.edu	37	19	49684660	49684660	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr19:49684660C>T	ENST00000252826.5	+	10	1331	c.1205C>T	c.(1204-1206)gCt>gTt	p.A402V	TRPM4_ENST00000427978.2_Missense_Mutation_p.A402V|TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000601347.1_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	402					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTGGCTGTGGCTTGGAACCGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	84	89			NA	NA	19		NA											NA				49684660		2203	4300	6503	SO:0001583	missense			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529	54795	54795		Voltage-gated ion channels / Transient receptor potential cation channels	17993	protein-coding gene	gene with protein product		606936			NA	11535825, 16382100	Standard	NM_017636	NM_017636	NA	Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1205C>T	19.37:g.49684660C>T	ENSP00000252826:p.Ala402Val	NA	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611107	0.66558	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.67865	-0.29;-0.29	3.92	3.92	0.45320	.	0.070546	0.64402	D	0.000018	T	0.81621	0.4861	M	0.84948	2.725	0.80722	D	1	D;D;D	0.71674	0.987;0.994;0.998	P;D;P	0.64144	0.807;0.922;0.887	D	0.85892	0.1429	10	0.87932	D	0	-11.7547	15.0744	0.72066	0.0:1.0:0.0:0.0	.	228;402;402	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	V	402	ENSP00000252826:A402V;ENSP00000407492:A402V	ENSP00000252826:A402V	A	+	2	0	TRPM4	54376472	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	6.665000	0.74442	1.899000	0.54978	0.455000	0.32223	GCT	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465543.2		+	ENST00000252826.5	Missense_Mutation	SNP	19 : 49684660 - 49684660 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	409	107
UBASH3B	84959	broad.mit.edu	37	11	122650403	122650403	+	Splice_Site	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr11:122650403G>A	ENST00000284273.5	+	4	976	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	201						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ATCCAAAACCGGTGAGCAAAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	50			NA	NA	11		NA											NA				122650403		2202	4299	6501	SO:0001630	splice_region_variant			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127	84959	84959			29884	protein-coding gene	gene with protein product	SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate	609201			NA	11853319, 12370296	Standard	NM_032873	NM_032873	NA	Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.601+1G>A	11.37:g.122650403G>A		NA	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	37	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147960	0.78001	.	.	ENSG00000154127	ENST00000284273	T	0.41400	1.0	5.17	5.17	0.71159	.	0.145893	0.64402	D	0.000010	T	0.36853	0.0982	L	0.36672	1.1	0.80722	D	1	P	0.36315	0.547	B	0.33121	0.158	T	0.35126	-0.9801	10	0.66056	D	0.02	-20.1969	18.6913	0.91583	0.0:0.0:1.0:0.0	.	201	Q8TF42	UBS3B_HUMAN	K	201	ENSP00000284273:E201K	ENSP00000284273:E201K	E	+	1	0	UBASH3B	122155613	1.000000	0.71417	0.966000	0.40874	0.754000	0.42855	9.476000	0.97823	2.403000	0.81681	0.650000	0.86243	GAA	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387499.1	Missense_Mutation	+	ENST00000284273.5	Splice_Site	SNP	11 : 122650403 - 122650403 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	283	4
VPS13B	157680	broad.mit.edu	37	8	100493941	100493941	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:100493941C>A	ENST00000358544.2	+	25	3892	c.3781C>A	c.(3781-3783)Cct>Act	p.P1261T	VPS13B_ENST00000357162.2_Missense_Mutation_p.P1261T|VPS13B_ENST00000395996.1_Missense_Mutation_p.P1261T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1261					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGGCCTGTTCCTACTTCTCC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				0													116	109	112			NA	NA	8		NA											NA				100493941		2203	4300	6503	SO:0001583	missense			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3781C>A	8.37:g.100493941C>A	ENSP00000351346:p.Pro1261Thr	NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562912	0.65538	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.64260	-0.09;-0.09;-0.09	5.08	5.08	0.68730	.	0.060752	0.64402	D	0.000004	T	0.77054	0.4074	M	0.63843	1.955	0.54753	D	0.999983	D;D;D;P	0.76494	0.994;0.999;0.998;0.669	D;D;P;B	0.83275	0.991;0.996;0.863;0.264	T	0.75001	-0.3471	10	0.33940	T	0.23	.	18.4942	0.90858	0.0:1.0:0.0:0.0	.	1260;1261;1261;1261	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	T	1261	ENSP00000349685:P1261T;ENSP00000351346:P1261T;ENSP00000379318:P1261T	ENSP00000349685:P1261T	P	+	1	0	VPS13B	100563117	1.000000	0.71417	0.778000	0.31720	0.391000	0.30476	6.906000	0.75719	2.365000	0.80145	0.655000	0.94253	CCT	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Missense_Mutation	SNP	8 : 100493941 - 100493941 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	461	15
ZNF407	55628	broad.mit.edu	37	18	72347373	72347373	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr18:72347373C>T	ENST00000299687.5	+	1	4398	c.4398C>T	c.(4396-4398)gcC>gcT	p.A1466A	ZNF407_ENST00000309902.6_Silent_p.A1466A|ZNF407_ENST00000582337.1_Silent_p.A1466A|ZNF407_ENST00000577538.1_Silent_p.A1466A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGCTAGTGCCGGCCACATGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,3834		0,0,1917	37	40	39		4398,4398,4398	-0.1	1	18		39	1,8311		0,1,4155	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF407	NM_001146189.1,NM_001146190.1,NM_017757.2	,,	0,1,6072	TT,TC,CC	NA	0.012,0.0,0.0082	,,	1466/1816,1466/1661,1466/2249	72347373	1,12145	1917	4156	6073	SO:0001819	synonymous_variant			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421	55628	55628		Zinc fingers, C2H2-type	19904	protein-coding gene	gene with protein product		615894			NA	11214970	Standard	NM_017757	NM_017757	NA	Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4398C>T	18.37:g.72347373C>T		NA	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	37	CCDS45885.1																																																																																			ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444903.1		+	ENST00000299687.5	Silent	SNP	18 : 72347373 - 72347373 T PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	108	6
ZNF468	90333	broad.mit.edu	37	19	53344850	53344850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr19:53344850delG	ENST00000595646.1	-	4	817	c.697delC	c.(697-699)catfs	p.H233fs	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.H180fs|ZNF468_ENST00000396409.4_Frame_Shift_Del_p.H180fs			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATTATCTGATGTTTTTTTAAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	73	75			NA	NA	19		NA											NA				53344850		2203	4300	6503	SO:0001589	frameshift_variant			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604	90333	90333		Zinc fingers, C2H2-type, -	33105	protein-coding gene	gene with protein product					NA	16144304	Standard	NM_001008801	NM_001277120	NA	Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.697delC	19.37:g.53344850delG	ENSP00000470381:p.His233fs	NA	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	37	CCDS33094.1																																																																																			ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463098.1		-	ENST00000595646.1	Frame_Shift_Del	DEL	19 : 53344850 - 53344850 - PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	387	102
ZNF689	115509	broad.mit.edu	37	16	30616626	30616626	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr16:30616626G>A	ENST00000287461.3	-	3	799	c.462C>T	c.(460-462)tgC>tgT	p.C154C	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			AGGTACAGCCGCAGTCAGGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	75	72			NA	NA	16		NA											NA				30616626		2197	4300	6497	SO:0001819	synonymous_variant			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853	115509	115509		Zinc fingers, C2H2-type, -	25173	protein-coding gene	gene with protein product					NA		Standard	NM_138447	NM_138447	NA	Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.462C>T	16.37:g.30616626G>A		NA	Q658J5	37	CCDS10686.1																																																																																			ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255552.1		-	ENST00000287461.3	Silent	SNP	16 : 30616626 - 30616626 A PAAD-TCGA-S4-A8RM-Tumor-SM-5PNP2	619	6
