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
ABCA10	10349	broad.mit.edu	37	17	67144973	67144973	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:67144973G>A	ENST00000269081.4	-	40	5536	c.4627C>T	c.(4627-4629)Cct>Tct	p.P1543S	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1543					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCATTTTAAGGGTCTTCCTGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	85	84			NA	NA	17		NA											NA				67144973		2203	4300	6503	SO:0001583	missense			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263	10349	10349		ATP binding cassette transporters / subfamily A	30	protein-coding gene	gene with protein product		612508			NA	12821155, 11435397	Standard	NM_080282	NM_080282	NA	Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4627C>T	17.37:g.67144973G>A	ENSP00000269081:p.Pro1543Ser	NA	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225136	0.39300	.	.	ENSG00000154263	ENST00000269081	D	0.88586	-2.4	3.81	0.564	0.17302	.	.	.	.	.	D	0.88295	0.6398	L	0.29908	0.895	0.19775	N	0.999955	D;D	0.76494	0.994;0.999	P;D	0.69142	0.878;0.962	T	0.77186	-0.2680	9	0.87932	D	0	.	5.6355	0.17534	0.3789:0.0:0.6211:0.0	.	535;1543	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	S	1543	ENSP00000269081:P1543S	ENSP00000269081:P1543S	P	-	1	0	ABCA10	64656568	0.128000	0.22383	0.004000	0.12327	0.010000	0.07245	0.205000	0.17356	0.216000	0.20781	-0.267000	0.10333	CCT	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379881.4		-	ENST00000269081.4	Missense_Mutation	SNP	17 : 67144973 - 67144973 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	342	16
ACAP2	23527	broad.mit.edu	37	3	195022345	195022345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:195022345G>A	ENST00000326793.6	-	15	1584	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	452	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GTTAAAGATCGTACTTTTGAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	54	53			NA	NA	3		NA											NA				195022345		2200	4299	6499	SO:0001587	stop_gained				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331	23527	23527		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16469	protein-coding gene	gene with protein product		607766	centaurin, beta 2	CENTB2	NA	11050434, 11062263	Standard	NM_012287	NM_012287	NA	Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1354C>T	3.37:g.195022345G>A	ENSP00000324287:p.Arg452*	NA	A8K2V4|Q8N5Z8|Q9UQR3	37	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.281303|5.281303	0.95489|0.95489	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000450200	.|.	.|.	.|.	5.89|5.89	4.02|4.02	0.46733|0.46733	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63850	.|0.2546	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69405	.|-0.5154	.|3	0.02654|.	T|.	1|.	.|.	13.6884|13.6884	0.62531|0.62531	0.0:0.0:0.4133:0.5867|0.0:0.0:0.4133:0.5867	.|.	.|.	.|.	.|.	X|M	452|10	.|.	ENSP00000324287:R452X|.	R|T	-|-	1|2	2|0	ACAP2|ACAP2	196503634|196503634	0.999000|0.999000	0.42202|0.42202	0.980000|0.980000	0.43619|0.43619	0.966000|0.966000	0.64601|0.64601	2.762000|2.762000	0.47597|0.47597	0.738000|0.738000	0.32606|0.32606	-0.274000|-0.274000	0.10170|0.10170	CGA|ACG	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342126.2		-	ENST00000326793.6	Nonsense_Mutation	SNP	3 : 195022345 - 195022345 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	344	6
ACSS3	79611	broad.mit.edu	37	12	81568670	81568670	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:81568670G>A	ENST00000548058.1	+	8	2112	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H	ACSS3_ENST00000261206.3_Missense_Mutation_p.R400H|ACSS3_ENST00000548324.1_Missense_Mutation_p.R83H			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	401						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGAGCAATCCGTCAACAGGAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	98	105			NA	NA	12		NA											NA				81568670		2203	4300	6503	SO:0001583	missense				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058	79611	79611		Acyl-CoA synthetase family	24723	protein-coding gene	gene with protein product		614356			NA	17762044	Standard	NM_024560	NM_024560	NA	Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1202G>A	12.37:g.81568670G>A	ENSP00000449535:p.Arg401His	NA	Q8NC66	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332027	0.95733	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.40756	1.02;1.02;1.02	5.83	5.83	0.93111	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	L	0.57130	1.785	0.80722	D	1	P;D	0.89917	0.956;1.0	B;D	0.77004	0.412;0.989	T	0.63769	-0.6562	10	0.72032	D	0.01	-13.3289	20.126	0.97982	0.0:0.0:1.0:0.0	.	83;401	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	H	401;400;83	ENSP00000449535:R401H;ENSP00000261206:R400H;ENSP00000448965:R83H	ENSP00000261206:R400H	R	+	2	0	ACSS3	80092801	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.056000	0.93881	2.749000	0.94314	0.655000	0.94253	CGT	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407794.1		+	ENST00000548058.1	Missense_Mutation	SNP	12 : 81568670 - 81568670 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	331	16
ADAMTS14	140766	broad.mit.edu	37	10	72489912	72489912	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:72489912C>T	ENST00000373208.1	+	6	1009	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R337C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	337	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCAGGTGTGTCGCTGGGCACA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	71	73			NA	NA	10		NA											NA				72489912		2203	4300	6503	SO:0001583	missense			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316	140766	140766		ADAM metallopeptidases with thrombospondin type 1 motif	14899	protein-coding gene	gene with protein product		607506	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14		NA	11779638	Standard	NM_080722	NM_139155	NA	Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373208.1:c.1009C>T	10.37:g.72489912C>T	ENSP00000362304:p.Arg337Cys	NA	Q5T4G0|Q8TE55|Q8TEY8	37	CCDS7307.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163344	0.94727	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.64260	-0.09;-0.09	4.7	4.7	0.59300	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.959;0.982	D	0.84031	0.0359	10	0.87932	D	0	.	17.8161	0.88634	0.0:1.0:0.0:0.0	.	337;337	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	C	337	ENSP00000362304:R337C;ENSP00000362303:R337C	ENSP00000362303:R337C	R	+	1	0	ADAMTS14	72159918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.739000	0.68622	2.608000	0.88229	0.655000	0.94253	CGC	ADAMTS14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048521.1		+	ENST00000373208.1	Missense_Mutation	SNP	10 : 72489912 - 72489912 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	519	40
ADCY6	112	broad.mit.edu	37	12	49164673	49164673	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:49164673G>A	ENST00000307885.4	-	19	3826	c.3132C>T	c.(3130-3132)aaC>aaT	p.N1044N	ADCY6_ENST00000550422.1_Silent_p.N991N|ADCY6_ENST00000357869.3_Silent_p.N991N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1044					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.N1044N(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGTGCTGGCGTTCAGCCCTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											114	96	102			NA	NA	12		NA											NA				49164673		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	112	112	4.6.1.1	Adenylate cyclases	237	protein-coding gene	gene with protein product		600294			NA		Standard	NM_020983	NM_015270	NA	Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3132C>T	12.37:g.49164673G>A		NA	Q9NR75|Q9UDB0	37	CCDS8767.1																																																																																			ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408863.1		-	ENST00000307885.4	Silent	SNP	12 : 49164673 - 49164673 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	427	5
AHRR	57491	broad.mit.edu	37	5	424055	424055	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:424055G>A	ENST00000316418.5	+	7	727	c.683G>A	c.(682-684)cGt>cAt	p.R228H	AHRR_ENST00000506456.1_Missense_Mutation_p.R84H|AHRR_ENST00000512529.1_Missense_Mutation_p.R74H|AHRR_ENST00000505113.1_Missense_Mutation_p.R228H	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTCATCTGCCGTGTGCGCTGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	55	52			NA	NA	5		NA											NA				424055		2030	4190	6220	SO:0001583	missense			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438	57491	57491		Basic helix-loop-helix proteins	346	protein-coding gene	gene with protein product		606517	aryl hydrocarbon receptor regulator	AHH, AHHR	NA	1070014, 11423533	Standard	NM_020731	NM_020731	NA	Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000316418.5:c.683G>A	5.37:g.424055G>A	ENSP00000323816:p.Arg228His	NA	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	37	CCDS43297.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841778	0.91197	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.72615	0.56;0.48;-0.57;-0.67	3.96	3.96	0.45880	.	0.121518	0.56097	D	0.000027	D	0.85444	0.5698	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.998	D	0.88474	0.3064	10	0.87932	D	0	.	13.4727	0.61290	0.0:0.0:1.0:0.0	.	84;228;228	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	H	228;228;74;84	ENSP00000424601:R228H;ENSP00000323816:R228H;ENSP00000424880:R74H;ENSP00000426932:R84H	ENSP00000323816:R228H	R	+	2	0	AHRR	477055	1.000000	0.71417	0.987000	0.45799	0.900000	0.52787	8.699000	0.91316	1.749000	0.51849	0.491000	0.48974	CGT	AHRR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367719.2		+	ENST00000316418.5	Missense_Mutation	SNP	5 : 424055 - 424055 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	492	17
ALPPL2	251	broad.mit.edu	37	2	233273223	233273223	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:233273223G>A	ENST00000295453.3	+	7	848	c.796G>A	c.(796-798)Gtg>Atg	p.V266M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	266					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGCCCGGTACGTGTGGAACCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	77	79			NA	NA	2		NA											NA				233273223		2201	4283	6484	SO:0001583	missense			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286	251	251			441	protein-coding gene	gene with protein product		171810			NA		Standard	NM_031313	NM_031313	NA	Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.796G>A	2.37:g.233273223G>A	ENSP00000295453:p.Val266Met	NA	A8KAF2|Q16727|Q53S81|Q96CM1	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	17.79	3.475270	0.63737	.	.	ENSG00000163286	ENST00000295453	D	0.98313	-4.86	3.37	3.37	0.38596	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	H	0.97587	4.035	0.51233	D	0.99991	D	0.89917	1.0	D	0.83275	0.996	D	0.98561	1.0641	10	0.87932	D	0	.	15.0806	0.72110	0.0:0.0:1.0:0.0	.	266	P10696	PPBN_HUMAN	M	266	ENSP00000295453:V266M	ENSP00000295453:V266M	V	+	1	0	ALPPL2	232981467	1.000000	0.71417	0.667000	0.29798	0.103000	0.19146	4.761000	0.62243	1.572000	0.49736	0.411000	0.27672	GTG	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257034.2		+	ENST00000295453.3	Missense_Mutation	SNP	2 : 233273223 - 233273223 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1157	104
ANKEF1	63926	broad.mit.edu	37	20	10030553	10030553	+	Missense_Mutation	SNP	C	C	T	rs114206956	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:10030553C>T	ENST00000378380.3	+	6	1665	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	ANKEF1_ENST00000378392.1_Missense_Mutation_p.R446W|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1	NA											NA						GTTTCCACGCCGGCAGGATGG	0.458		NA											C	2	9e-04	0.0041	NA	2184	NA	0.9999	,	,	NA	4e-04	NA	NA	NA	0.001	0.9547	LOWCOV,EXOME	NA	NA	0.0017	SNP								NA				0								C	TRP/ARG,TRP/ARG	14,4392	22.3+/-47.3	0,14,2189	86	81	83		1336,1336	3.9	0	20	dbSNP_132	83	0,8600		0,0,4300	yes	missense,missense	ANKRD5	NM_022096.4,NM_198798.1	101,101	0,14,6489	TT,TC,CC	NA	0.0,0.3177,0.1076	benign,benign	446/777,446/777	10030553	14,12992	2203	4300	6503	SO:0001583	missense			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623	63926	63926		EF-hand domain containing, Ankyrin repeat domain containing	15803	protein-coding gene	gene with protein product			ankyrin repeat domain 5	ANKRD5	NA	17142250	Standard	NM_022096	NM_022096	NA	Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1336C>T	20.37:g.10030553C>T	ENSP00000367631:p.Arg446Trp	NA		37	CCDS13108.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	10.59	1.393374	0.25205	0.003177	0.0	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.70749	-0.51;-0.51	5.87	3.88	0.44766	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82843	0.5125	M	0.77103	2.36	0.54753	D	0.999982	D	0.89917	1.0	D	0.67548	0.952	D	0.84772	0.0768	10	0.62326	D	0.03	4.5514	14.9915	0.71393	0.3887:0.6113:0.0:0.0	.	446	Q9NU02	ANKR5_HUMAN	W	446	ENSP00000367644:R446W;ENSP00000367631:R446W	ENSP00000367631:R446W	R	+	1	2	ANKRD5	9978553	0.288000	0.24324	0.014000	0.15608	0.232000	0.25224	0.881000	0.28173	0.886000	0.36113	0.655000	0.94253	CGG	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077968.2		+	ENST00000378380.3	Missense_Mutation	SNP	20 : 10030553 - 10030553 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	629	70
ANKRD11	29123	broad.mit.edu	37	16	89341354	89341354	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:89341354G>A	ENST00000301030.4	-	11	8041	c.7581C>T	c.(7579-7581)atC>atT	p.I2527I	ANKRD11_ENST00000378330.2_Silent_p.I2527I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2527						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACAGGATACGATCAGCTTCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	49	50			NA	NA	16		NA											NA				89341354		2198	4300	6498	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7581C>T	16.37:g.89341354G>A		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89341354 - 89341354 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	473	56
AQP4	361	broad.mit.edu	37	18	24436320	24436320	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:24436320C>T	ENST00000383168.4	-	5	955	c.827G>A	c.(826-828)aGc>aAc	p.S276N	AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.S254N|AQP4_ENST00000581374.1_Missense_Mutation_p.S254N	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	276					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CTCCATGTAGCTTCCTTTTGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													277	237	251			NA	NA	18		NA											NA				24436320		2203	4300	6503	SO:0001583	missense			U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885	361	361		Ion channels / Aquaporins	637	protein-coding gene	gene with protein product		600308			NA	7528931	Standard	NM_001650, NM_004028	NM_001650	NA	Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.827G>A	18.37:g.24436320C>T	ENSP00000372654:p.Ser276Asn	NA	P78564	37	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806238	0.31961	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.85955	-2.05	5.75	3.87	0.44632	.	0.399736	0.30492	N	0.009517	T	0.65037	0.2653	N	0.08118	0	0.23401	N	0.997751	B	0.02656	0.0	B	0.06405	0.002	T	0.44283	-0.9338	10	0.31617	T	0.26	.	3.4375	0.07452	0.0:0.4876:0.278:0.2344	.	276	P55087	AQP4_HUMAN	N	276;256;172	ENSP00000372654:S276N	ENSP00000372654:S276N	S	-	2	0	AQP4	22690318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.608000	0.36847	2.717000	0.92951	0.650000	0.86243	AGC	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254914.2		-	ENST00000383168.4	Missense_Mutation	SNP	18 : 24436320 - 24436320 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1405	22
ARHGEF11	9826	broad.mit.edu	37	1	156914928	156914928	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:156914928C>T	ENST00000368194.3	-	30	3913	c.2874G>A	c.(2872-2874)aaG>aaA	p.K958K	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.K334K|ARHGEF11_ENST00000361409.2_Silent_p.K918K	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	918					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATTCACATACTTGAGAATCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	97	95			NA	NA	1		NA											NA				156914928		2203	4300	6503	SO:0001819	synonymous_variant			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694	9826	9826		Rho guanine nucleotide exchange factors	14580	protein-coding gene	gene with protein product		605708			NA	10526156, 9205841	Standard	NM_198236	NM_014784	NA	Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000368194.3:c.2874G>A	1.37:g.156914928C>T		NA	D3DVD0|Q5VY40	37	CCDS1163.1																																																																																			ARHGEF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098930.1		-	ENST00000368194.3	Silent	SNP	1 : 156914928 - 156914928 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	991	141
ASPM	259266	broad.mit.edu	37	1	197072159	197072159	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:197072159C>T	ENST00000367409.4	-	18	6478	c.6222G>A	c.(6220-6222)caG>caA	p.Q2074Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2074	IQ 15.				mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2074Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATACCATCTCTGAATTATAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	cervix(1)											74	81	79			NA	NA	1		NA											NA				197072159		2202	4293	6495	SO:0001819	synonymous_variant			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	259266	259266			19048	protein-coding gene	gene with protein product		605481	microcephaly, primary autosomal recessive 5, asp (abnormal spindle)-like, microcephaly associated (Drosophila)	MCPH5	NA	11078481	Standard	NM_018136	NM_018136	NA	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6222G>A	1.37:g.197072159C>T		NA	Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	37	CCDS1389.1																																																																																			ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088256.1		-	ENST00000367409.4	Silent	SNP	1 : 197072159 - 197072159 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	688	21
BAI1	575	broad.mit.edu	37	8	143599550	143599550	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:143599550G>A	ENST00000517894.1	+	19	3763	c.2869G>A	c.(2869-2871)Gtg>Atg	p.V957M	BAI1_ENST00000323289.5_Missense_Mutation_p.V957M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	957					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGCTGTGGCGTGTCCTCTCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	199	199			NA	NA	8		NA											NA				143599550		2203	4298	6501	SO:0001583	missense			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790	575	575		-, GPCR / Class B : Orphans	943	protein-coding gene	gene with protein product		602682			NA	9533023	Standard	NM_001702	NM_001702	NA	Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2869G>A	8.37:g.143599550G>A	ENSP00000430945:p.Val957Met	NA		37		.	.	.	.	.	.	.	.	.	.	G	18.33	3.600387	0.66332	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.41758	0.99;0.99	3.22	2.32	0.28847	.	0.205293	0.31760	U	0.007115	T	0.55878	0.1948	M	0.61703	1.905	0.52099	D	0.999948	D	0.76494	0.999	D	0.65233	0.933	T	0.57551	-0.7792	10	0.87932	D	0	.	10.8578	0.46808	0.0:0.194:0.806:0.0	.	957	E9PBK0	.	M	957	ENSP00000430945:V957M;ENSP00000313046:V957M	ENSP00000313046:V957M	V	+	1	0	BAI1	143596552	1.000000	0.71417	0.999000	0.59377	0.748000	0.42578	6.006000	0.70724	0.531000	0.28639	-0.332000	0.08345	GTG	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000379963.3		+	ENST00000517894.1	Missense_Mutation	SNP	8 : 143599550 - 143599550 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	677	6
CAPN6	827	broad.mit.edu	37	X	110494868	110494868	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:110494868G>T	ENST00000324068.1	-	6	969	c.802C>A	c.(802-804)Ctt>Att	p.L268I	CAPN6_ENST00000541758.1_Missense_Mutation_p.L13I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	268	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTTCCACAAGTCTCTCTCCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													279	277	278			NA	NA	X		NA											NA				110494868		2203	4300	6503	SO:0001583	missense			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274	827	827			1483	protein-coding gene	gene with protein product		300146			NA	9503024, 9339374	Standard		NM_014289	NA	Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.802C>A	X.37:g.110494868G>T	ENSP00000317214:p.Leu268Ile	NA	D3DUY7|Q9UEQ1|Q9UJA8	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074557	0.76415	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.90444	-2.67;-2.28	6.17	5.31	0.75309	Peptidase C2, calpain, catalytic domain (3);	0.072434	0.56097	D	0.000033	D	0.92496	0.7617	L	0.58428	1.81	0.47276	D	0.999375	D	0.60575	0.988	P	0.61722	0.893	D	0.91917	0.5544	10	0.52906	T	0.07	.	9.6606	0.39952	0.0718:0.0:0.7883:0.1398	.	268	Q9Y6Q1	CAN6_HUMAN	I	268;13	ENSP00000317214:L268I;ENSP00000441736:L13I	ENSP00000317214:L268I	L	-	1	0	CAPN6	110381524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.051000	0.49885	1.355000	0.45865	0.600000	0.82982	CTT	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057922.1		-	ENST00000324068.1	Missense_Mutation	SNP	X : 110494868 - 110494868 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	3209	29
CAPZA3	93661	broad.mit.edu	37	12	18891410	18891410	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:18891410G>C	ENST00000317658.3	+	1	366	c.208G>C	c.(208-210)Gta>Cta	p.V70L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	70					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGGAAATCCAGTACTCTTGTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	107	111			NA	NA	12		NA											NA				18891410		2203	4300	6503	SO:0001583	missense			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938	93661	93661			24205	protein-coding gene	gene with protein product		608722			NA	12029070	Standard	NM_033328	NM_033328	NA	Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.208G>C	12.37:g.18891410G>C	ENSP00000326238:p.Val70Leu	NA	Q969J0	37	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661852	0.67700	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000002	T	0.76849	0.4045	M	0.72353	2.195	0.41152	D	0.986031	D	0.63046	0.992	D	0.76071	0.987	T	0.80065	-0.1538	9	0.72032	D	0.01	-16.3283	13.8066	0.63236	0.0:0.0:1.0:0.0	.	70	Q96KX2	CAZA3_HUMAN	L	70	.	ENSP00000326238:V70L	V	+	1	0	CAPZA3	18782677	0.990000	0.36364	0.889000	0.34880	0.991000	0.79684	4.256000	0.58810	2.278000	0.76064	0.462000	0.41574	GTA	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401902.1		+	ENST00000317658.3	Missense_Mutation	SNP	12 : 18891410 - 18891410 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	644	67
CHD3	1107	broad.mit.edu	37	17	7812062	7812062	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7812062C>T	ENST00000380358.4	+	36	5487	c.5486C>T	c.(5485-5487)gCc>gTc	p.A1829V	CHD3_ENST00000330494.7_Missense_Mutation_p.A1770V|CHD3_ENST00000358181.4_Missense_Mutation_p.A1736V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1770	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCTCAATTTGCCATTATCAAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	149	150			NA	NA	17		NA											NA				7812062		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.5486C>T	17.37:g.7812062C>T	ENSP00000369716:p.Ala1829Val	NA	D3DTQ9|Q9Y4I0	37	CCDS32553.2	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823177	0.50739	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235;ENST00000449744	D;D;D	0.90844	-2.74;-2.67;-2.68	4.78	4.78	0.61160	CHD, C-terminal 2 (1);	0.000000	0.44902	D	0.000410	D	0.91570	0.7337	L	0.45581	1.43	0.58432	D	0.999999	B;B;B;P	0.40302	0.316;0.057;0.096;0.712	B;B;B;P	0.54499	0.23;0.113;0.173;0.754	D	0.91066	0.4889	10	0.51188	T	0.08	-15.3285	11.8981	0.52667	0.0:0.9084:0.0:0.0916	.	347;1736;1770;1829	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	V	1829;1736;1770;98;62	ENSP00000369716:A1829V;ENSP00000350907:A1736V;ENSP00000332628:A1770V	ENSP00000332628:A1770V	A	+	2	0	CHD3	7752787	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.127000	0.42035	2.480000	0.83734	0.561000	0.74099	GCC	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318052.1		+	ENST00000380358.4	Missense_Mutation	SNP	17 : 7812062 - 7812062 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1351	7
CHD7	55636	broad.mit.edu	37	8	61757622	61757622	+	Splice_Site	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:61757622G>A	ENST00000423902.2	+	22	5529	c.5050G>A	c.(5050-5052)Ggt>Agt	p.G1684S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1684					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAACCATTCCGGTAGGTCTCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM081210	CHD7	M							128	130	129			NA	NA	8		NA											NA				61757622		1995	4177	6172	SO:0001630	splice_region_variant			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316	55636	55636			20626	protein-coding gene	gene with protein product		608892	CHARGE association	CRG	NA	15300250, 18834967	Standard	XM_098762	NM_017780	NA	Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5050+1G>A	8.37:g.61757622G>A		NA	Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949354	0.92660	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.89485	-2.52	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.81341	2.54	0.80722	D	1	D	0.61697	0.99	D	0.64776	0.929	D	0.94615	0.7808	10	0.87932	D	0	-15.9541	20.054	0.97641	0.0:0.0:1.0:0.0	.	1684	Q9P2D1	CHD7_HUMAN	S	1684	ENSP00000392028:G1684S	ENSP00000307304:G1684S	G	+	1	0	CHD7	61920176	1.000000	0.71417	0.963000	0.40424	0.505000	0.33919	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GGT	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383468.2	Missense_Mutation	+	ENST00000423902.2	Splice_Site	SNP	8 : 61757622 - 61757622 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	916	6
COL1A2	1278	broad.mit.edu	37	7	94050355	94050355	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:94050355G>A	ENST00000297268.6	+	38	2801	c.2330G>A	c.(2329-2331)cGt>cAt	p.R777H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	777			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGGAAGTCGTGGTGATGGA	0.423		NA								HNSCC(75;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	154	156			NA	NA	7		NA											NA				94050355		2203	4300	6503	SO:0001583	missense			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692	1278	1278		Collagens	2198	protein-coding gene	gene with protein product	alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain	120160	osteogenesis imperfecta type IV	OI4	NA	3857213, 2897363	Standard	NM_000089	NM_000089	NA	Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2330G>A	7.37:g.94050355G>A	ENSP00000297268:p.Arg777His	NA	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962324	0.92791	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93811	-3.29	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	H	0.94542	3.55	0.58432	D	0.999999	D	0.76494	0.999	P	0.58013	0.831	D	0.97940	1.0325	10	0.87932	D	0	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	777	P08123	CO1A2_HUMAN	H	777;778	ENSP00000297268:R777H	ENSP00000297268:R777H	R	+	2	0	COL1A2	93888291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.330000	0.72925	2.824000	0.97209	0.655000	0.94253	CGT	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309045.2		+	ENST00000297268.6	Missense_Mutation	SNP	7 : 94050355 - 94050355 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	352	27
COL4A4	1286	broad.mit.edu	37	2	227945177	227945177	+	Silent	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	595	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	126	126			NA	NA	2		NA											NA				227945177		1858	4099	5957	SO:0001819	synonymous_variant				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052	1286	1286		Collagens	2206	protein-coding gene	gene with protein product	collagen of basement membrane, alpha-4 chain	120131			NA	1639407	Standard	NM_000092	NM_000092	NA	Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1785A>G	2.37:g.227945177T>C		NA	A8MTZ1|Q53RW9|Q53S42|Q53WR1	37	CCDS42828.1																																																																																			COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313770.1		-	ENST00000396625.3	Silent	SNP	2 : 227945177 - 227945177 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	932	8
CSRNP3	80034	broad.mit.edu	37	2	166514474	166514474	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:166514474C>T	ENST00000409420.1	+	3	698	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R118W|CSRNP3_ENST00000314499.7_Missense_Mutation_p.R118W			Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	118					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GAGGCTCCACCGGGAGATGTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	47	48			NA	NA	2		NA											NA				166514474		2203	4300	6503	SO:0001583	missense			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662	80034	80034		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	30729	protein-coding gene	gene with protein product	TGF beta induced apotosis protein 2, protein phosphatase 1, regulatory subunit 73		family with sequence similarity 130, member A2	FAM130A2	NA	17726538	Standard	NM_024969	NM_024969	NA	Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000409420.1:c.448C>T	2.37:g.166514474C>T	ENSP00000387195:p.Arg150Trp	NA	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	37		.	.	.	.	.	.	.	.	.	.	C	18.12	3.553765	0.65425	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.44	3.43	0.39272	.	0.108850	0.64402	D	0.000015	T	0.32704	0.0838	L	0.59912	1.85	0.43160	D	0.994949	D	0.71674	0.998	P	0.59643	0.861	T	0.14172	-1.0482	10	0.56958	D	0.05	-9.7028	14.2181	0.65807	0.3795:0.6205:0.0:0.0	.	118	Q8WYN3	CSRN3_HUMAN	W	118;125;118;118;118;150	ENSP00000412081:R118W;ENSP00000318258:R118W;ENSP00000386278:R118W;ENSP00000344042:R118W;ENSP00000387195:R150W	ENSP00000318258:R118W	R	+	1	2	CSRNP3	166222720	1.000000	0.71417	0.999000	0.59377	0.583000	0.36354	2.123000	0.41996	1.263000	0.44181	0.563000	0.77884	CGG	CSRNP3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000333608.1		+	ENST00000409420.1	Missense_Mutation	SNP	2 : 166514474 - 166514474 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	299	27
CTNNA2	1496	broad.mit.edu	37	2	80530477	80530477	+	Silent	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:80530477G>T	ENST00000402739.4	+	7	1061				LRRTM1_ENST00000409148.1_Silent_p.L156L|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000295057.3_Silent_p.L156L|CTNNA2_ENST00000466387.1_Intron	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	NA					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCCCGTGGAAGAGGTCGGGCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	88	85			NA	NA	2		NA											NA				80530477		2203	4300	6503	SO:0001627	intron_variant				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032	1496	1496			2510	protein-coding gene	gene with protein product	cadherin-associated protein, related, cancer/testis antigen 114	114025			NA	8432524	Standard	NM_004389	NM_004389	NA	Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1057-89859G>T	2.37:g.80530477G>T		NA	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	37																																																																																				CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328511.4		+	ENST00000402739.4	Intron	SNP	2 : 80530477 - 80530477 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	472	13
CTR9	9646	broad.mit.edu	37	11	10776660	10776660	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:10776660A>G	ENST00000361367.2	+	3	726	c.300A>G	c.(298-300)gaA>gaG	p.E100E		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	100					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCGGAAAGAAAAGAATAAGG	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	112	111			NA	NA	11		NA											NA				10776660		2201	4294	6495	SO:0001819	synonymous_variant			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730	9646	9646		Tetratricopeptide (TTC) repeat domain containing	16850	protein-coding gene	gene with protein product		609366	SH2 domain binding protein 1 (tetratricopeptide repeat containing), Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	SH2BP1	NA	8590280, 8636124	Standard	NM_014633	NM_014633	NA	Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.300A>G	11.37:g.10776660A>G		NA	D3DQV8|Q15015	37	CCDS7805.1																																																																																			CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386215.1		+	ENST00000361367.2	Silent	SNP	11 : 10776660 - 10776660 G PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	614	6
DMD	1756	broad.mit.edu	37	X	32563424	32563424	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:32563424G>A	ENST00000357033.4	-	17	2226	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	DMD_ENST00000288447.4_Missense_Mutation_p.P666S|DMD_ENST00000378677.2_Missense_Mutation_p.P670S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	674					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTAGTGATGGCTGAGTGGTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	141	159			NA	NA	X		NA											NA				32563424		2202	4300	6502	SO:0001583	missense			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947	1756	1756			2928	protein-coding gene	gene with protein product	muscular dystrophy, Duchenne and Becker types	300377	dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85	MRX85	NA	3282674, 3607877, 23900271	Standard	NM_004006	NM_004019	NA	Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2020C>T	X.37:g.32563424G>A	ENSP00000354923:p.Pro674Ser	NA	Q02295|Q14169|Q14170|Q5JYU0|Q7KZ48|Q9UCW3|Q9UCW4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	9.924	1.212886	0.22289	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.71461	0.2;0.2;-0.57	5.64	4.69	0.59074	.	0.253065	0.20010	U	0.101151	T	0.56790	0.2009	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.20887	0.049;0.003;0.007;0.002	B;B;B;B	0.19666	0.026;0.015;0.003;0.007	T	0.51284	-0.8725	10	0.18710	T	0.47	.	12.1345	0.53964	0.0:0.0:0.6831:0.3169	.	666;666;674;670	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	S	666;670;674;674;551;666	ENSP00000367948:P670S;ENSP00000354923:P674S;ENSP00000288447:P666S	ENSP00000288447:P666S	P	-	1	0	DMD	32473345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.541000	0.45735	2.356000	0.79943	0.506000	0.49869	CCA	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056182.2		-	ENST00000357033.4	Missense_Mutation	SNP	X : 32563424 - 32563424 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	374	12
DMGDH	29958	broad.mit.edu	37	5	78325780	78325780	+	Silent	SNP	A	A	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:78325780A>C	ENST00000255189.3	-	11	1789	c.1761T>G	c.(1759-1761)tcT>tcG	p.S587S	DMGDH_ENST00000540686.1_Silent_p.S207S|DMGDH_ENST00000380311.4_Silent_p.S386S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	587					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTCCCCAGGAGATTGGTGAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	75	74			NA	NA	5		NA											NA				78325780		2203	4300	6503	SO:0001819	synonymous_variant			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	29958	29958	1.5.99.2		24475	protein-coding gene	gene with protein product		605849			NA	10767172, 11231903	Standard	NM_013391	NM_013391	NA	Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1761T>G	5.37:g.78325780A>C		NA	B2RBN0	37	CCDS4044.1																																																																																			DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226963.3		-	ENST00000255189.3	Silent	SNP	5 : 78325780 - 78325780 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	251	6
DNTT	1791	broad.mit.edu	37	10	98097935	98097935	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:98097935C>T	ENST00000371174.2	+	11	1586	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	DNTT_ENST00000419175.1_Missense_Mutation_p.A494V			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	495	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATTTTTGCGCATCTGGGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	118	119			NA	NA	10		NA											NA				98097935		2203	4300	6503	SO:0001583	missense			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	1791	1791	2.7.7.31	DNA polymerases	2983	protein-coding gene	gene with protein product	Terminal deoxynucleotidyltransferase	187410	deoxynucleotidyltransferase, terminal		NA		Standard	NM_004088	NM_004088	NA	Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1484C>T	10.37:g.98097935C>T	ENSP00000360216:p.Ala495Val	NA	Q53FH1|Q5W103|Q96E50	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821842	0.50633	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.47528	0.84;0.84	5.37	5.37	0.77165	DNA-directed DNA polymerase X (1);	0.146062	0.47093	D	0.000248	T	0.43612	0.1255	M	0.85197	2.74	0.38160	D	0.938996	P;P	0.48640	0.913;0.859	B;B	0.28784	0.094;0.043	T	0.57154	-0.7860	10	0.30854	T	0.27	-0.4285	11.9763	0.53094	0.1731:0.8269:0.0:0.0	.	494;495	P04053-2;P04053	.;TDT_HUMAN	V	494;495	ENSP00000401169:A494V;ENSP00000360216:A495V	ENSP00000360216:A495V	A	+	2	0	DNTT	98087925	0.997000	0.39634	1.000000	0.80357	0.946000	0.59487	2.398000	0.44486	2.679000	0.91253	0.655000	0.94253	GCG	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049607.1		+	ENST00000371174.2	Missense_Mutation	SNP	10 : 98097935 - 98097935 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	438	5
DRP2	1821	broad.mit.edu	37	X	100505940	100505940	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:100505940T>C	ENST00000395209.3	+	16	2260	c.1733T>C	c.(1732-1734)tTc>tCc	p.F578S	DRP2_ENST00000402866.1_Missense_Mutation_p.F578S|DRP2_ENST00000538510.1_Missense_Mutation_p.F578S|DRP2_ENST00000541709.1_Missense_Mutation_p.F500S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	578					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GCATCCCAGTTCCTGGAGTGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	134	144			NA	NA	X		NA											NA				100505940		2203	4300	6503	SO:0001583	missense			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385	1821	1821			3032	protein-coding gene	gene with protein product		300052			NA	8640231	Standard	NM_001939	NM_001939	NA	Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1733T>C	X.37:g.100505940T>C	ENSP00000378635:p.Phe578Ser	NA	A6ZKI5|A8K1B0|B1B1F3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885168	0.91814	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	6.06	6.06	0.98353	EF-hand domain, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93684	0.7001	10	0.87932	D	0	-16.046	15.4998	0.75687	0.0:0.0:0.0:1.0	.	578	Q13474	DRP2_HUMAN	S	578;578;500;578	ENSP00000385038:F578S;ENSP00000378635:F578S;ENSP00000444752:F500S;ENSP00000441051:F578S	ENSP00000378635:F578S	F	+	2	0	DRP2	100392596	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.040000	0.89188	2.044000	0.60594	0.486000	0.48141	TTC	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057522.3		+	ENST00000395209.3	Missense_Mutation	SNP	X : 100505940 - 100505940 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1198	33
EPHA3	2042	broad.mit.edu	37	3	89445093	89445093	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:89445093G>C	ENST00000336596.2	+	6	1638	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	EPHA3_ENST00000494014.1_Missense_Mutation_p.E471D|EPHA3_ENST00000452448.2_Missense_Mutation_p.E471D	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	471	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGACTACGAGGTCAAATACT	0.448		NA								TSP Lung(6;0.00050)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	172	175			NA	NA	3		NA											NA				89445093		2203	4300	6503	SO:0001583	missense			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2042	2042	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3387	protein-coding gene	gene with protein product		179611	EphA3	ETK, ETK1, TYRO4	NA	1737782, 1311845	Standard	NM_005233	NM_005233	NA	Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1413G>C	3.37:g.89445093G>C	ENSP00000337451:p.Glu471Asp	NA	Q9H2V3|Q9H2V4	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668961	0.67814	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.59083	0.29;0.29;0.29	5.96	4.18	0.49190	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.64260	1.97	0.58432	D	0.999992	D;D	0.71674	0.997;0.998	D;D	0.79108	0.992;0.971	T	0.68758	-0.5324	9	.	.	.	.	10.9314	0.47220	0.1937:0.0:0.8063:0.0	.	471;471	P29320;P29320-2	EPHA3_HUMAN;.	D	471	ENSP00000337451:E471D;ENSP00000399926:E471D;ENSP00000419190:E471D	.	E	+	3	2	EPHA3	89527783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.525000	0.53502	0.863000	0.35553	0.655000	0.94253	GAG	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352995.1		+	ENST00000336596.2	Missense_Mutation	SNP	3 : 89445093 - 89445093 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1031	10
FANCD2	2177	broad.mit.edu	37	3	10115018	10115018	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:10115018C>T	ENST00000287647.3	+	28	2780	c.2687C>T	c.(2686-2688)aCg>aTg	p.T896M	FANCD2_ENST00000383807.1_Missense_Mutation_p.T896M|FANCD2_ENST00000419585.1_Missense_Mutation_p.T896M|FANCD2_ENST00000383806.1_Missense_Mutation_p.T896M	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	896					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGTGACCCTACGCCATCTCAT	0.398		NA	D, Mis, N, F			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia D2	3	3p26	2177	Fanconi anemia, complementation group D2		L	0													124	131	128			NA	NA	3		NA											NA				10115018		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554	2177	2177		Fanconi anemia, complementation groups	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD	NA	7581463, 11239453, 18475298	Standard		XM_005264946	NA	Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000287647.3:c.2687C>T	3.37:g.10115018C>T	ENSP00000287647:p.Thr896Met	NA	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	37	CCDS2595.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394940	0.42512	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.83	4.05	0.47172	.	0.379519	0.32593	N	0.005899	T	0.49270	0.1547	L	0.57536	1.79	0.09310	N	1	D;D	0.57571	0.98;0.98	P;P	0.48815	0.467;0.591	T	0.44682	-0.9312	10	0.56958	D	0.05	.	9.5192	0.39124	0.0:0.8619:0.0:0.1381	.	896;896	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	M	896	ENSP00000287647:T896M;ENSP00000373318:T896M;ENSP00000373317:T896M;ENSP00000398754:T896M	ENSP00000287647:T896M	T	+	2	0	FANCD2	10090018	0.010000	0.17322	0.007000	0.13788	0.567000	0.35839	1.540000	0.36115	0.834000	0.34852	0.650000	0.86243	ACG	FANCD2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250562.2		+	ENST00000287647.3	Missense_Mutation	SNP	3 : 10115018 - 10115018 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1056	7
FAT1	2195	broad.mit.edu	37	4	187629556	187629556	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:187629556C>T	ENST00000441802.2	-	2	1635	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	476	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAATGGGCACGTTCTCATCA	0.478		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0								C	MET/VAL	1,4055		0,1,2027	159	154	156		1426	4.6	0.4	4		156	0,8374		0,0,4187	no	missense	FAT1	NM_005245.3	21	0,1,6214	TT,TC,CC	NA	0.0,0.0247,0.0080	benign	476/4589	187629556	1,12429	2028	4187	6215	SO:0001583	missense			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1426G>A	4.37:g.187629556C>T	ENSP00000406229:p.Val476Met	NA		37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	6.902	0.536012	0.13188	2.47E-4	0.0	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.61274	0.65;0.12	5.45	4.61	0.57282	Cadherin (4);Cadherin-like (1);	0.247216	0.41194	D	0.000928	T	0.49098	0.1537	L	0.56396	1.775	0.28076	N	0.932393	P	0.34724	0.465	B	0.29785	0.107	T	0.51911	-0.8645	10	0.46703	T	0.11	.	9.1518	0.36967	0.1454:0.7818:0.0:0.0729	.	476	Q14517	FAT1_HUMAN	M	476	ENSP00000406229:V476M;ENSP00000423736:V476M	ENSP00000260147:V476M	V	-	1	0	FAT1	187866550	0.512000	0.26186	0.440000	0.26846	0.186000	0.23388	1.869000	0.39519	1.538000	0.49270	0.561000	0.74099	GTG	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Missense_Mutation	SNP	4 : 187629556 - 187629556 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	840	6
FN1	2335	broad.mit.edu	37	2	216246983	216246983	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:216246983G>C	ENST00000354785.4	-	32	5485	c.5116C>G	c.(5116-5118)Cag>Gag	p.Q1706E	FN1_ENST00000356005.4_Missense_Mutation_p.Q1615E|FN1_ENST00000359671.1_Missense_Mutation_p.Q1615E|FN1_ENST00000323926.6_Missense_Mutation_p.Q1706E|FN1_ENST00000346544.3_Missense_Mutation_p.Q1615E|FN1_ENST00000432072.2_Missense_Mutation_p.Q1706E|FN1_ENST00000357009.2_Missense_Mutation_p.Q1615E|FN1_ENST00000421182.1_Missense_Mutation_p.Q1615E|FN1_ENST00000345488.5_Missense_Mutation_p.Q1615E|FN1_ENST00000357867.4_Missense_Mutation_p.Q1615E|FN1_ENST00000446046.1_Missense_Mutation_p.Q1615E|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000443816.1_Missense_Mutation_p.Q1615E|FN1_ENST00000336916.4_Missense_Mutation_p.Q1615E			P02751	FINC_HUMAN	fibronectin 1	1705	Fibronectin type-III 12; extra domain.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGGATTCTGAGCATAGACA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	90	94			NA	NA	2		NA											NA				216246983		2203	4300	6503	SO:0001583	missense				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414	2335	2335		Fibronectin type III domain containing, Endogenous ligands	3778	protein-coding gene	gene with protein product	migration-stimulating factor, cold-insoluble globulin	135600			NA	2992939, 3003095	Standard	NM_212476	NM_054034	NA	Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000354785.4:c.5116C>G	2.37:g.216246983G>C	ENSP00000346839:p.Gln1706Glu	NA	O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	37	CCDS42814.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403313	0.62288	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.91	5.91	0.95273	.	0.089806	0.48286	D	0.000200	T	0.65893	0.2735	L	0.34521	1.04	0.20638	N	0.999873	D;P;P;P;D;D;D;D;D;P;P;D	0.62365	0.991;0.904;0.946;0.478;0.975;0.989;0.991;0.971;0.981;0.946;0.946;0.973	D;D;D;P;P;D;D;P;D;D;D;D	0.79784	0.993;0.953;0.953;0.693;0.832;0.989;0.993;0.77;0.993;0.953;0.953;0.98	T	0.60974	-0.7156	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1406;1615;1706;1706;1615;1615;1615;1615;1616;1615;1615;1706	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.;.	E	1615;1706;1615;1615;1706;1616;1615;1615;1615;1615;1615;1615;1706;1615;422	ENSP00000394423:Q1615E;ENSP00000323534:Q1706E;ENSP00000338200:Q1615E;ENSP00000350534:Q1615E;ENSP00000346839:Q1706E;ENSP00000352696:Q1615E;ENSP00000265312:Q1615E;ENSP00000273049:Q1615E;ENSP00000349509:Q1615E;ENSP00000410422:Q1615E;ENSP00000415018:Q1615E;ENSP00000399538:Q1706E;ENSP00000348285:Q1615E;ENSP00000416139:Q422E	ENSP00000265313:Q1616E	Q	-	1	0	FN1	215955228	1.000000	0.71417	0.988000	0.46212	0.692000	0.40212	6.444000	0.73452	2.793000	0.96121	0.655000	0.94253	CAG	FN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256667.2		-	ENST00000354785.4	Missense_Mutation	SNP	2 : 216246983 - 216246983 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	445	41
GRM2	2912	broad.mit.edu	37	3	51743379	51743379	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:51743379C>T	ENST00000395052.3	+	2	614	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A127V	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	127					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGCTCTTATGCGACCCATGGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	46	50			NA	NA	3		NA											NA				51743379		2203	4297	6500	SO:0001583	missense			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082	2912	2912		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4594	protein-coding gene	gene with protein product		604099			NA	7620613	Standard		NM_000839	NA	Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.380C>T	3.37:g.51743379C>T	ENSP00000378492:p.Ala127Val	NA	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	37	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981130	0.93044	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.84589	-1.87;-1.87	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.062472	0.64402	D	0.000006	D	0.85500	0.5711	L	0.37630	1.12	0.80722	D	1	P	0.48230	0.907	P	0.49887	0.625	D	0.86902	0.2055	10	0.66056	D	0.02	.	19.2362	0.93861	0.0:1.0:0.0:0.0	.	127	Q14416	GRM2_HUMAN	V	127	ENSP00000378492:A127V;ENSP00000408906:A127V	ENSP00000296479:A127V	A	+	2	0	GRM2	51718419	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	6.026000	0.70873	2.555000	0.86185	0.655000	0.94253	GCG	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346542.1		+	ENST00000395052.3	Missense_Mutation	SNP	3 : 51743379 - 51743379 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	202	5
HECW1	23072	broad.mit.edu	37	7	43351558	43351558	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:43351558C>T	ENST00000453890.1	+	3	548	c.224C>T	c.(223-225)tCg>tTg	p.S75L	HECW1_ENST00000395891.2_Missense_Mutation_p.S75L			Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	75					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGGTCACCTCGGACAGCCGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LEU/SER	0,4238		0,0,2119	57	65	62		224	5.8	1	7		62	1,8469		0,1,4234	no	missense	HECW1	NM_015052.3	145	0,1,6353	TT,TC,CC	NA	0.0118,0.0,0.0079	probably-damaging	75/1607	43351558	1,12707	2119	4235	6354	SO:0001583	missense			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746	23072	23072			22195	protein-coding gene	gene with protein product		610384			NA	12690205, 14684739	Standard	NM_015052	XM_005249665	NA	Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000453890.1:c.224C>T	7.37:g.43351558C>T	ENSP00000407774:p.Ser75Leu	NA	A7E2X0|A8MYS3|O15036|Q9HCC7	37		.	.	.	.	.	.	.	.	.	.	C	35	5.425853	0.96131	0.0	1.18E-4	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.35605	1.3;1.3	5.76	5.76	0.90799	.	0.129505	0.56097	D	0.000040	T	0.45135	0.1327	L	0.39147	1.195	0.80722	D	1	D;B;D	0.71674	0.998;0.017;0.978	P;B;B	0.51385	0.668;0.005;0.357	T	0.39143	-0.9628	10	0.87932	D	0	.	19.9521	0.97203	0.0:1.0:0.0:0.0	.	75;107;75	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	L	75;75;74	ENSP00000379228:S75L;ENSP00000407774:S75L	ENSP00000265522:S74L	S	+	2	0	HECW1	43318083	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	5.920000	0.70017	2.708000	0.92522	0.655000	0.94253	TCG	HECW1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338775.1		+	ENST00000453890.1	Missense_Mutation	SNP	7 : 43351558 - 43351558 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	405	49
HSF4	3299	broad.mit.edu	37	16	67203674	67203674	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:67203674A>G	ENST00000584272.1	+	13	1375	c.1375A>G	c.(1375-1377)Agt>Ggt	p.S459G	HSF4_ENST00000521374.1_Missense_Mutation_p.S489G|HSF4_ENST00000421453.1_Missense_Mutation_p.S459G|HSF4_ENST00000264009.8_Missense_Mutation_p.S489G			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	489					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCCGGAAGCCAGTCCCTCCCC	0.667		NA									OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	46	44			NA	NA	16		NA											NA				67203674		1851	4075	5926	SO:0001583	missense			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878	3299	3299			5227	protein-coding gene	gene with protein product		602438	cataract, Marner	CTM	NA	8972228, 10488131, 12089525	Standard	NM_001538	NM_001538	NA	Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000584272.1:c.1375A>G	16.37:g.67203674A>G	ENSP00000463706:p.Ser459Gly	1097	Q99472|Q9ULV6	37	CCDS45510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.29|11.29	1.593884|1.593884	0.28445|0.28445	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.47|3.47	0.39725|0.39725	.|.	.|0.322852	.|0.26812	.|N	.|0.022370	T|T	0.24509|0.24509	0.0594|0.0594	N|N	0.19112|0.19112	0.55|0.55	0.25125|0.25125	N|N	0.990618|0.990618	.|B;B	.|0.17268	.|0.021;0.012	.|B;B	.|0.21151	.|0.033;0.014	T|T	0.13656|0.13656	-1.0501|-1.0501	5|9	.|0.29301	.|T	.|0.29	-17.1419|-17.1419	6.2709|6.2709	0.20953|0.20953	0.8712:0.0:0.1288:0.0|0.8712:0.0:0.1288:0.0	.|.	.|459;489	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	R|G	220;132|459;489;413;489	.|.	.|ENSP00000264009:S489G	Q|S	+|+	2|1	0|0	HSF4|HSF4	65761175|65761175	0.525000|0.525000	0.26290|0.26290	0.986000|0.986000	0.45419|0.45419	0.152000|0.152000	0.21847|0.21847	0.176000|0.176000	0.16782|0.16782	0.841000|0.841000	0.35020|0.35020	0.460000|0.460000	0.39030|0.39030	CAG|AGT	HSF4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375068.1		+	ENST00000584272.1	Missense_Mutation	SNP	16 : 67203674 - 67203674 G PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	768	42
HTR3A	3359	broad.mit.edu	37	11	113857759	113857759	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:113857759G>A	ENST00000504030.2	+	8	1574	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	HTR3A_ENST00000506841.2_Missense_Mutation_p.D409N|HTR3A_ENST00000375498.2_Missense_Mutation_p.D383N|HTR3A_ENST00000299961.5_Missense_Mutation_p.D362N|HTR3A_ENST00000535865.1_Missense_Mutation_p.D121N|HTR3A_ENST00000355556.2_Missense_Mutation_p.D415N			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	377					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CAAGACTGATGACTGCTCAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	29	28			NA	NA	11		NA											NA				113857759		2197	4292	6489	SO:0001583	missense			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03				3359	3359		5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic	5297	protein-coding gene	gene with protein product		182139	5-hydroxytryptamine (serotonin) receptor 3A	HTR3	NA	8530095, 12867984	Standard	NM_000869	NM_000869	NA	Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1129G>A	11.37:g.113857759G>A	ENSP00000424189:p.Asp377Asn	NA	O60854|Q99918|Q9BSZ9	37		.	.	.	.	.	.	.	.	.	.	G	10.56	1.383357	0.25031	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.83914	-1.78;1.9;-1.78;1.9;-1.78;-1.78	5.5	3.26	0.37387	.	1.090970	0.06727	N	0.775992	T	0.76772	0.4034	L	0.38175	1.15	0.38660	D	0.952058	B;B;B	0.14012	0.002;0.008;0.009	B;B;B	0.19666	0.01;0.012;0.026	T	0.64162	-0.6472	10	0.29301	T	0.29	-20.6259	9.712	0.40251	0.2049:0.0:0.7951:0.0	.	362;415;383	B4DSY6;G5E986;Q7KZM7	.;.;.	N	377;415;383;409;121;362	ENSP00000424189:D377N;ENSP00000347754:D415N;ENSP00000364648:D383N;ENSP00000424776:D409N;ENSP00000437776:D121N;ENSP00000299961:D362N	ENSP00000299961:D362N	D	+	1	0	HTR3A	113362969	0.956000	0.32656	0.839000	0.33178	0.112000	0.19704	1.552000	0.36244	1.459000	0.47892	0.655000	0.94253	GAC	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000360822.2		+	ENST00000504030.2	Missense_Mutation	SNP	11 : 113857759 - 113857759 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	416	10
IFNA7	3444	broad.mit.edu	37	9	21201878	21201878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:21201878G>T	ENST00000239347.3	-	1	326	c.287C>A	c.(286-288)tCa>tAa	p.S96*		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	96					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGCAGCAGATGAGTCCTCTGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	56	54			NA	NA	9		NA											NA				21201878		2202	4281	6483	SO:0001587	stop_gained				CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042	3444	3444		Interferons	5428	protein-coding gene	gene with protein product		147567			NA	1385305	Standard	NM_021057	NM_021057	NA	Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.287C>A	9.37:g.21201878G>T	ENSP00000239347:p.Ser96*	NA	Q14607|Q5VV14	37	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365583	0.41902	.	.	ENSG00000214042	ENST00000239347	.	.	.	3.56	0.28	0.15682	.	0.828141	0.10926	N	0.618941	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2755	0.31871	0.0:0.4864:0.3482:0.1654	.	.	.	.	X	96	.	ENSP00000239347:S96X	S	-	2	0	IFNA7	21191878	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	0.117000	0.15583	-0.191000	0.10448	0.586000	0.80456	TCA	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051891.1		-	ENST00000239347.3	Nonsense_Mutation	SNP	9 : 21201878 - 21201878 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	653	9
IRS4	8471	broad.mit.edu	37	X	107979420	107979420	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:107979420C>G	ENST00000372129.2	-	1	231	c.155G>C	c.(154-156)gGa>gCa	p.G52A	RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	52						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCACATGGCTCCCGGACAAGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	23	22			NA	NA	X		NA											NA				107979420		2174	4212	6386	SO:0001583	missense			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124	8471	8471			6128	protein-coding gene	gene with protein product		300904			NA	9261155, 9553137	Standard	NM_003604	NM_003604	NA	Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.155G>C	X.37:g.107979420C>G	ENSP00000361202:p.Gly52Ala	NA		37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	c	14.15	2.450387	0.43531	.	.	ENSG00000133124	ENST00000372129	T	0.57436	0.4	3.0	2.13	0.27403	.	0.434509	0.17021	N	0.190111	T	0.31979	0.0814	N	0.14661	0.345	0.26220	N	0.979178	B	0.18461	0.028	B	0.12156	0.007	T	0.22243	-1.0222	10	0.56958	D	0.05	-3.0499	7.3287	0.26569	0.0:0.8609:0.0:0.1391	.	52	O14654	IRS4_HUMAN	A	52	ENSP00000361202:G52A	ENSP00000361202:G52A	G	-	2	0	IRS4	107866076	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.426000	0.44731	0.679000	0.31345	0.431000	0.28591	GGA	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057879.1		-	ENST00000372129.2	Missense_Mutation	SNP	X : 107979420 - 107979420 G PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	562	54
IRX4	50805	broad.mit.edu	37	5	1879903	1879903	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:1879903G>A	ENST00000505790.1	-	5	907	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.R151C|IRX4_ENST00000513692.1_Missense_Mutation_p.R151C	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	151					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GTGGTCTCGCGCGTGGCGTTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	95	106			NA	NA	5		NA											NA				1879903		2203	4300	6503	SO:0001583	missense			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430	50805	50805		Homeoboxes / TALE class	6129	protein-coding gene	gene with protein product		606199	iroquois homeobox protein 4		NA	10625552	Standard	NM_016358	NM_016358	NA	Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.451C>T	5.37:g.1879903G>A	ENSP00000423161:p.Arg151Cys	NA	B2RMW5|D3DTC5|Q2NL64|Q9UHR2	37	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509935	0.85282	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;T	0.84370	-1.84;-1.84;-1.84;-0.39	4.55	3.64	0.41730	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92573	0.7641	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93692	0.7008	10	0.87932	D	0	-27.2035	12.7693	0.57410	0.0:0.0:0.8352:0.1647	.	151	P78413	IRX4_HUMAN	C	151;151;151;177	ENSP00000231357:R151C;ENSP00000423161:R151C;ENSP00000424235:R151C;ENSP00000421772:R177C	ENSP00000231357:R151C	R	-	1	0	IRX4	1932903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.297000	0.59061	2.067000	0.61834	0.462000	0.41574	CGC	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365500.1		-	ENST00000505790.1	Missense_Mutation	SNP	5 : 1879903 - 1879903 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	538	70
KCNE1L	23630	broad.mit.edu	37	X	108868206	108868206	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:108868206C>T	ENST00000372101.2	-	1	187	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	15					regulation of heart contraction	voltage-gated potassium channel complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GAGCAACAGGCGGCTCAGAAG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	12			NA	NA	X		NA											NA				108868206		2163	4218	6381	SO:0001583	missense			AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076	23630	23630		Potassium channels	6241	protein-coding gene	gene with protein product		300328	potassium voltage-gated channel, Isk-related family, member 1-like		NA	10493825	Standard	NM_012282	NM_012282	NA	Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.44G>A	X.37:g.108868206C>T	ENSP00000361173:p.Arg15His	NA		37	CCDS14547.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906858	0.52333	.	.	ENSG00000176076	ENST00000372101	T	0.71817	-0.6	4.74	1.66	0.24008	.	0.242758	0.27437	N	0.019376	T	0.41880	0.1178	N	0.08118	0	0.28357	N	0.920618	B	0.13145	0.007	B	0.10450	0.005	T	0.21861	-1.0233	10	0.48119	T	0.1	-25.7468	0.7581	0.01002	0.1549:0.2966:0.2664:0.2821	.	15	Q9UJ90	KCE1L_HUMAN	H	15	ENSP00000361173:R15H	ENSP00000361173:R15H	R	-	2	0	KCNE1L	108754862	0.985000	0.35326	0.988000	0.46212	0.851000	0.48451	0.065000	0.14466	0.476000	0.27440	0.523000	0.50628	CGC	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057892.1		-	ENST00000372101.2	Missense_Mutation	SNP	X : 108868206 - 108868206 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	146	6
KCNU1	157855	broad.mit.edu	37	8	36788639	36788639	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:36788639C>T	ENST00000518904.1	+	0	310				KCNU1_ENST00000399881.3_Silent_p.H969H			A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	NA						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.H969H(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTCCTTACACGAAACCATTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	large_intestine(2)											136	129	131			NA	NA	8		NA											NA				36788639		1890	4114	6004	SO:0001624	3_prime_UTR_variant			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262	157855	157855		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18867	protein-coding gene	gene with protein product		615215			NA	16382103	Standard	NM_001031836	NM_001031836	NA	Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000518904.1:c.*85C>T	8.37:g.36788639C>T		NA		37																																																																																				KCNU1-009	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000376634.1		+	ENST00000518904.1	3'UTR	SNP	8 : 36788639 - 36788639 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	597	54
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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-HZ-8637-Tumor-SM-3MVDL	123	12
KRT4	3851	broad.mit.edu	37	12	53202186	53202186	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:53202186G>A	ENST00000551956.1	-	6	1509	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	KRT4_ENST00000293774.4_Silent_p.I413I|KRT4_ENST00000458244.2_Silent_p.I319I			B4DRS2	B4DRS2_HUMAN	keratin 4	339						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGTCAACCGAGATCTGGAGCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(190;284 2995 41444 45903)							NA				0													93	94	94			NA	NA	12		NA											NA				53202186		2185	4295	6480	SO:0001819	synonymous_variant				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477	3851	3851		-, Intermediate filaments type II, keratins (basic)	6441	protein-coding gene	gene with protein product	cytokeratin 4, keratin, type II cytoskeletal 4	123940		CYK4	NA	16831889	Standard	NM_002272	NM_002272	NA	Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1017C>T	12.37:g.53202186G>A		NA		37	CCDS41787.2																																																																																			KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405931.1		-	ENST00000551956.1	Silent	SNP	12 : 53202186 - 53202186 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	507	15
LCP1	3936	broad.mit.edu	37	13	46718595	46718595	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:46718595C>T	ENST00000398576.2	-	14	1623	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	LCP1_ENST00000323076.2_Missense_Mutation_p.R412Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	412	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATGATTGACTCGAGGGTTAAC	0.423		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0													129	119	122			NA	NA	13		NA											NA				46718595		2203	4300	6503	SO:0001583	missense			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167	3936	3936		EF-hand domain containing	6528	protein-coding gene	gene with protein product	plastin 2	153430			NA	2111166	Standard	NM_002298	NM_002298	NA	Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1235G>A	13.37:g.46718595C>T	ENSP00000381581:p.Arg412Gln	NA	B2R613|Q5TBN4	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492704	0.64074	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.94828	-3.53;-3.53	5.91	5.07	0.68467	Calponin homology domain (5);	0.117460	0.64402	N	0.000014	D	0.89969	0.6869	L	0.33624	1.015	0.80722	D	1	P	0.39060	0.657	B	0.35353	0.201	D	0.88903	0.3354	10	0.37606	T	0.19	-1.5	14.0981	0.65037	0.0:0.9281:0.0:0.0719	.	412	P13796	PLSL_HUMAN	Q	412	ENSP00000315757:R412Q;ENSP00000381581:R412Q	ENSP00000315757:R412Q	R	-	2	0	LCP1	45616596	0.989000	0.36119	0.995000	0.50966	0.996000	0.88848	2.576000	0.46033	1.507000	0.48752	0.555000	0.69702	CGA	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044800.3		-	ENST00000398576.2	Missense_Mutation	SNP	13 : 46718595 - 46718595 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	421	17
LRRC43	254050	broad.mit.edu	37	12	122669269	122669269	+	Silent	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:122669269G>T	ENST00000339777.4	+	2	382	c.354G>T	c.(352-354)acG>acT	p.T118T	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	118										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ACCCGCTGACGATCACAGACA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	43	43			NA	NA	12		NA											NA				122669269		2005	4166	6171	SO:0001819	synonymous_variant			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113	254050	254050			28562	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152759	NM_152759	NA	Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.354G>T	12.37:g.122669269G>T		NA	Q6ZVT9	37	CCDS45001.1																																																																																			LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401589.1		+	ENST00000339777.4	Silent	SNP	12 : 122669269 - 122669269 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	153	16
LTBP4	8425	broad.mit.edu	37	19	41120241	41120241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:41120241C>T	ENST00000602240.1	+	0	2791				LTBP4_ENST00000243562.9_Nonsense_Mutation_p.R66*|LTBP4_ENST00000545697.1_Nonsense_Mutation_p.R421*|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.R901*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.R931*|LTBP4_ENST00000308370.7_Nonsense_Mutation_p.R968*			Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	NA					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGTCGCGAGCGAGGCCCAGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	40	39			NA	NA	19		NA											NA				41120241		1988	4156	6144	SO:0001624	3_prime_UTR_variant			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006	8425	8425		Latent transforming growth factor, beta binding proteins	6717	protein-coding gene	gene with protein product		604710			NA	9660815, 9271198	Standard	NM_003573	NM_003573	NA	Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000602240.1:c.*2788C>T	19.37:g.41120241C>T		NA	O00508|O75412|O75413	37		.	.	.	.	.	.	.	.	.	.	C	40	8.375412	0.98784	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	.	.	.	4.42	3.32	0.38043	.	0.436821	0.16974	N	0.191978	.	.	.	.	.	.	0.25981	N	0.982375	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	2.7137	0.05181	0.1743:0.5273:0.1922:0.1063	.	.	.	.	X	931;421;968;901;66	.	ENSP00000204005:R931X	R	+	1	2	LTBP4	45812081	0.474000	0.25886	0.998000	0.56505	0.950000	0.60333	0.304000	0.19228	2.280000	0.76307	0.455000	0.32223	CGA	LTBP4-002	KNOWN	sequence_error|basic	processed_transcript	NA	protein_coding	OTTHUMT00000462815.2		+	ENST00000602240.1	3'UTR	SNP	19 : 41120241 - 41120241 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	339	6
MAMLD1	10046	broad.mit.edu	37	X	149639651	149639651	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:149639651A>G	ENST00000370401.2	+	4	2116	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	602	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcaacagcagcagc	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	68	71			NA	NA	X		NA											NA				149639651		2203	4300	6503	SO:0001819	synonymous_variant			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619	10046	10046			2568	protein-coding gene	gene with protein product		300120	chromosome X open reading frame 6	CXorf6	NA	9169146, 17086185, 18162467	Standard	NM_005491	NM_001177465	NA	Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1806A>G	X.37:g.149639651A>G		NA	B2RCQ4|B4DG93|B9EGA5	37	CCDS14693.2																																																																																			MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060844.2		+	ENST00000370401.2	Silent	SNP	X : 149639651 - 149639651 G PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1007	6
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	95	96			NA	NA	19		NA											NA				9090831		2041	4195	6236	SO:0001819	synonymous_variant			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G		NA	Q6ZQW5|Q96RK2	37	CCDS54212.1																																																																																			MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Silent	SNP	19 : 9090831 - 9090831 G PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	465	5
MYH15	22989	broad.mit.edu	37	3	108129678	108129678	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:108129678T>C	ENST00000273353.3	-	32	4363	c.4307A>G	c.(4306-4308)gAg>gGg	p.E1436G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1436						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTCCCCGAGCTCCAGCTGCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	3		NA											NA				108129678		2054	4193	6247	SO:0001583	missense			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821	22989	22989		Myosins / Myosin superfamily : Class II	31073	protein-coding gene	gene with protein product		609929	myosin, heavy polypeptide 15		NA	15014174, 15042088	Standard	XM_036988	NM_014981	NA	Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4307A>G	3.37:g.108129678T>C	ENSP00000273353:p.Glu1436Gly	NA		37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.267172	0.59540	.	.	ENSG00000144821	ENST00000273353	D	0.85629	-2.01	5.2	5.2	0.72013	Myosin tail (1);	.	.	.	.	D	0.93141	0.7816	M	0.88512	2.96	0.54753	D	0.999989	D	0.69078	0.997	D	0.73708	0.981	D	0.94435	0.7653	9	0.87932	D	0	.	15.0504	0.71865	0.0:0.0:0.0:1.0	.	1436	Q9Y2K3	MYH15_HUMAN	G	1436	ENSP00000273353:E1436G	ENSP00000273353:E1436G	E	-	2	0	MYH15	109612368	1.000000	0.71417	0.076000	0.20297	0.040000	0.13550	5.798000	0.69095	1.962000	0.57031	0.459000	0.35465	GAG	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353935.1		-	ENST00000273353.3	Missense_Mutation	SNP	3 : 108129678 - 108129678 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	357	18
NDRG3	57446	broad.mit.edu	37	20	35294743	35294743	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:35294743G>A	ENST00000373803.2	-	10	697	c.641C>T	c.(640-642)gCc>gTc	p.A214V	NDRG3_ENST00000349004.1_Missense_Mutation_p.A214V|NDRG3_ENST00000540765.1_Missense_Mutation_p.A110V|NDRG3_ENST00000359675.2_Missense_Mutation_p.A202V|NDRG3_ENST00000373773.3_Missense_Mutation_p.A119V			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	214					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GATGTCTTGGGCAATATGCAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	186	195			NA	NA	20		NA											NA				35294743		2203	4300	6503	SO:0001583	missense			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079	57446	57446			14462	protein-coding gene	gene with protein product		605273			NA	10831399, 17998568	Standard		NM_032013	NA	Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000373803.2:c.641C>T	20.37:g.35294743G>A	ENSP00000362909:p.Ala214Val	NA	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	37		.	.	.	.	.	.	.	.	.	.	G	11.92	1.782077	0.31502	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.03	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	N	0.17723	0.515	0.58432	D	0.999999	B;B;D	0.69078	0.081;0.081;0.997	B;B;D	0.68621	0.061;0.051;0.959	T	0.03597	-1.1021	10	0.22706	T	0.39	.	11.5003	0.50433	0.0873:0.0:0.9127:0.0	.	119;202;214	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	V	214;214;202;119;110	ENSP00000345292:A214V;ENSP00000362909:A214V;ENSP00000352703:A202V;ENSP00000362878:A119V;ENSP00000442813:A110V	ENSP00000345292:A214V	A	-	2	0	NDRG3	34728157	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	8.737000	0.91562	1.493000	0.48517	0.655000	0.94253	GCC	NDRG3-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000079055.1		-	ENST00000373803.2	Missense_Mutation	SNP	20 : 35294743 - 35294743 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	412	5
NDUFA1	4694	broad.mit.edu	37	X	119005896	119005896	+	Missense_Mutation	SNP	G	G	A	rs104894884		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:119005896G>A	ENST00000371437.4	+	1	447	c.22G>A	c.(22-24)Gga>Aga	p.G8R		NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	8			G -> R (in MT-C1D).		mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5					NADH(DB00157)	GATTCTCCCCGGACTCTCCGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM070206	NDUFA1	M	rs104894884						184	149	161			NA	NA	X		NA											NA				119005896		2203	4300	6503	SO:0001583	missense				CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356	4694	4694		Mitochondrial respiratory chain complex / Complex I	7683	protein-coding gene	gene with protein product	NADH:ubiquinone oxidoreductase (complex 1), type I dehydrogenase, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE), complex I MWFE subunit	300078	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)		NA	8938439	Standard	NM_004541	NM_004541	NA	Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.22G>A	X.37:g.119005896G>A	ENSP00000360492:p.Gly8Arg	NA		37	CCDS14590.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436087	0.43224	.	.	ENSG00000125356	ENST00000371437	T	0.78481	-1.18	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	.	.	.	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.86588	0.1858	9	0.42905	T	0.14	-17.2435	13.6857	0.62515	0.0:0.0:1.0:0.0	.	8	O15239	NDUA1_HUMAN	R	8	ENSP00000360492:G8R	ENSP00000360492:G8R	G	+	1	0	NDUFA1	118889924	1.000000	0.71417	0.749000	0.31150	0.584000	0.36387	3.502000	0.53332	2.300000	0.77407	0.600000	0.82982	GGA	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058080.1		+	ENST00000371437.4	Missense_Mutation	SNP	X : 119005896 - 119005896 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1455	34
NLRP12	91662	broad.mit.edu	37	19	54314419	54314419	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:54314419T>C	ENST00000324134.6	-	3	662	c.494A>G	c.(493-495)gAg>gGg	p.E165G	NLRP12_ENST00000391775.3_Missense_Mutation_p.E165G|NLRP12_ENST00000391772.1_Missense_Mutation_p.E165G|NLRP12_ENST00000354278.3_Missense_Mutation_p.E165G|NLRP12_ENST00000351894.4_Missense_Mutation_p.E165G|NLRP12_ENST00000535162.1_Missense_Mutation_p.E165G|NLRP12_ENST00000391773.1_Missense_Mutation_p.E165G|NLRP12_ENST00000345770.5_Missense_Mutation_p.E165G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	165					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTTTGAGTGCTCCTTCACCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	74			NA	NA	19		NA											NA				54314419		2203	4300	6503	SO:0001583	missense			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405	91662	91662		Nucleotide-binding domain and leucine rich repeat containing	22938	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12	609648	NACHT, leucine rich repeat and PYD containing 12	NALP12	NA	12563287, 12019269	Standard	NM_144687	NM_001277129	NA	Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.494A>G	19.37:g.54314419T>C	ENSP00000319377:p.Glu165Gly	NA	Q8NEU4|Q9BY26	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.998559	0.54147	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	4.25	3.21	0.36854	.	0.156011	0.29707	N	0.011410	D	0.90745	0.7095	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.66716	0.922;0.946;0.922;0.946	D	0.89923	0.4060	10	0.72032	D	0.01	.	5.111	0.14809	0.0:0.221:0.0:0.7789	.	165;165;165;165	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	G	165	ENSP00000319377:E165G;ENSP00000438030:E165G;ENSP00000340473:E165G;ENSP00000346231:E165G;ENSP00000375655:E165G;ENSP00000375653:E165G;ENSP00000375652:E165G	ENSP00000319377:E165G	E	-	2	0	NLRP12	59006231	0.002000	0.14202	0.979000	0.43373	0.937000	0.57800	1.332000	0.33805	1.716000	0.51395	0.254000	0.18369	GAG	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000134340.1		-	ENST00000324134.6	Missense_Mutation	SNP	19 : 54314419 - 54314419 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	606	5
NLRP7	199713	broad.mit.edu	37	19	55450705	55450705	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55450705G>A	ENST00000588756.1	-	6	1968	c.1482C>T	c.(1480-1482)gcC>gcT	p.A494A	NLRP7_ENST00000592784.1_Silent_p.A494A|NLRP7_ENST00000590030.1_Silent_p.A494A|NLRP7_ENST00000446217.1_Silent_p.A522A|NLRP7_ENST00000448121.2_Silent_p.A494A|NLRP7_ENST00000340844.2_Silent_p.A494A|NLRP7_ENST00000328092.5_Silent_p.A494A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	494							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGATGTCCCAGGCGTGGCCGT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	65	66			NA	NA	19		NA											NA				55450705		2203	4300	6503	SO:0001819	synonymous_variant			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634	199713	199713		Nucleotide-binding domain and leucine rich repeat containing	22947	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7	609661	NACHT, leucine rich repeat and PYD containing 7	NALP7	NA	12563287, 12019269	Standard	NM_139176	NM_139176	NA	Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000588756.1:c.1482C>T	19.37:g.55450705G>A		NA	E9PE16|Q32MH8|Q7RTR1	37	CCDS46183.1																																																																																			NLRP7-001	KNOWN	alternative_5_UTR|downstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451324.2		-	ENST00000588756.1	Silent	SNP	19 : 55450705 - 55450705 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	480	14
NTRK2	4915	broad.mit.edu	37	9	87338511	87338511	+	Missense_Mutation	SNP	G	G	A	rs117250170	by1000genomes	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:87338511G>A	ENST00000304053.6	+	7	1090	c.607G>A	c.(607-609)Gca>Aca	p.A203T	NTRK2_ENST00000376213.1_Missense_Mutation_p.A203T|NTRK2_ENST00000323115.4_Missense_Mutation_p.A203T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A203T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A203T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A203T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A203T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A203T|NTRK2_ENST00000395866.2_Missense_Mutation_p.A47T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	203	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AAATCTGGCCGCACCTAACCT	0.398		NA								TSP Lung(25;0.17)			G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	0.0017	SNP								NA				0								G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	179	153	162		607,607,607,607,607	4.5	0.9	9	dbSNP_132	162	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense,missense	NTRK2	NM_001007097.1,NM_001018064.1,NM_001018065.2,NM_001018066.2,NM_006180.3	58,58,58,58,58	0,7,6496	AA,AG,GG	NA	0.0698,0.0227,0.0538	benign,benign,benign,benign,benign	203/478,203/823,203/554,203/538,203/839	87338511	7,12999	2203	4300	6503	SO:0001583	missense			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	4915	4915	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8032	protein-coding gene	gene with protein product		600456			NA	7789988	Standard		NM_001018065	NA	Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000304053.6:c.607G>A	9.37:g.87338511G>A	ENSP00000306167:p.Ala203Thr	NA	B1ANZ4|Q16675|Q8WXJ6	37	CCDS35051.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.40	1.340322	0.24339	2.27E-4	6.98E-4	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.64	4.52	0.55395	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177702	0.49916	D	0.000137	T	0.12050	0.0293	N	0.01438	-0.865	0.27631	N	0.948042	B;B;B;B;B;B;B;B	0.29936	0.029;0.013;0.013;0.016;0.001;0.005;0.262;0.013	B;B;B;B;B;B;B;B	0.17722	0.019;0.009;0.009;0.016;0.004;0.004;0.019;0.009	T	0.13656	-1.0501	10	0.15952	T	0.53	.	4.7532	0.13071	0.2675:0.0:0.7325:0.0	.	47;203;203;203;203;203;249;203	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	T	203;203;203;203;203;203;203;203;47	ENSP00000365387:A203T;ENSP00000365386:A203T;ENSP00000379221:A203T;ENSP00000365381:A203T;ENSP00000306167:A203T;ENSP00000277120:A203T;ENSP00000314586:A203T;ENSP00000352906:A203T;ENSP00000379207:A47T	ENSP00000277120:A203T	A	+	1	0	NTRK2	86528331	0.010000	0.17322	0.901000	0.35422	0.850000	0.48378	1.337000	0.33862	2.807000	0.96579	0.591000	0.81541	GCA	NTRK2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052884.1		+	ENST00000304053.6	Missense_Mutation	SNP	9 : 87338511 - 87338511 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	394	5
NUDC	10726	broad.mit.edu	37	1	27269375	27269375	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:27269375T>C	ENST00000321265.5	+	6	683	c.560T>C	c.(559-561)tTc>tCc	p.F187S		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	187	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GCGGTCCCTTTCTGTGTGAAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	45	46			NA	NA	1		NA											NA				27269375		2203	4300	6503	SO:0001583	missense				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273	10726	10726			8045	protein-coding gene	gene with protein product		610325	nuclear distribution gene C homolog (A. nidulans), nuclear distribution C homolog (A. nidulans)		NA		Standard		NM_006600	NA	Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.560T>C	1.37:g.27269375T>C	ENSP00000319664:p.Phe187Ser	NA	Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	37	CCDS292.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.450465	0.63290	.	.	ENSG00000090273	ENST00000435827;ENST00000321265	T	0.76578	-1.03	5.37	5.37	0.77165	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	M	0.73962	2.25	0.80722	D	1	P;P	0.49090	0.919;0.732	P;P	0.54499	0.754;0.551	D	0.86304	0.1682	10	0.59425	D	0.04	-1.6956	15.4283	0.75072	0.0:0.0:0.0:1.0	.	138;187	Q9H2R7;Q9Y266	.;NUDC_HUMAN	S	191;187	ENSP00000319664:F187S	ENSP00000319664:F187S	F	+	2	0	NUDC	27141962	1.000000	0.71417	0.939000	0.37840	0.122000	0.20287	7.697000	0.84279	2.056000	0.61249	0.451000	0.29950	TTC	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012172.2		+	ENST00000321265.5	Missense_Mutation	SNP	1 : 27269375 - 27269375 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	270	26
OR4C11	219429	broad.mit.edu	37	11	55371698	55371698	+	Missense_Mutation	SNP	C	C	T	rs140943798	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:55371698C>T	ENST00000302231.4	-	1	176	c.152G>A	c.(151-153)cGg>cAg	p.R51Q		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCCTAGTGTCCGGCTGGACTT	0.408		NA											C	1	5e-04	0.002	NA	2184	NA	0.9998	,	,	NA	2e-04	NA	NA	NA	5e-04	0.715	EXOME	NA	NA	5e-04	SNP								NA				0								C	GLN/ARG	0,4358		0,0,2179	76	72	74		152	-3.5	0	11	dbSNP_134	74	12,7998		2,8,3995	yes	missense	OR4C11	NM_001004700.2	43	2,8,6174	TT,TC,CC	NA	0.1498,0.0,0.097	benign	51/311	55371698	12,12356	2179	4005	6184	SO:0001583	missense			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188	219429	219429		GPCR / Class A : Olfactory receptors	15167	protein-coding gene	gene with protein product				OR4C11P	NA		Standard	NM_001004700	NM_001004700	NA	Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.152G>A	11.37:g.55371698C>T	ENSP00000306651:p.Arg51Gln	NA	B9EIL4|Q8NGL8	37	CCDS31503.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.005	-2.153505	0.00325	0.0	0.001498	ENSG00000172188	ENST00000302231	T	0.01076	5.37	4.34	-3.53	0.04667	GPCR, rhodopsin-like superfamily (1);	0.915015	0.09091	N	0.849832	T	0.00666	0.0022	N	0.05414	-0.055	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.46541	-0.9184	10	0.16896	T	0.51	.	6.9427	0.24502	0.0:0.2633:0.1376:0.5991	.	51	Q6IEV9	OR4CB_HUMAN	Q	51	ENSP00000306651:R51Q	ENSP00000306651:R51Q	R	-	2	0	OR4C11	55128274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.195000	0.00563	-0.427000	0.07350	-0.701000	0.03672	CGG	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383268.1		-	ENST00000302231.4	Missense_Mutation	SNP	11 : 55371698 - 55371698 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	689	72
PARK7	11315	broad.mit.edu	37	1	8031011	8031011	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:8031011G>A	ENST00000493678.1	+	5	377	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	PARK7_ENST00000377493.5_Missense_Mutation_p.A84T|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.A104T|PARK7_ENST00000377491.1_Missense_Mutation_p.A104T|PARK7_ENST00000338639.5_Missense_Mutation_p.A104T			Q99497	PARK7_HUMAN	parkinson protein 7	104			A -> T (in PARK7).		autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGATAGCCGCCATCTGTGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM032052	PARK7	M							111	104	106			NA	NA	1		NA											NA				8031011		2203	4300	6503	SO:0001583	missense			D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288	NA	11315		Parkinson disease	16369	protein-coding gene	gene with protein product			Parkinson disease (autosomal recessive, early onset) 7		NA	11462174, 9070310	Standard	NM_007262	NM_007262	NA	Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.310G>A	1.37:g.8031011G>A	ENSP00000418770:p.Ala104Thr	NA	B2R4Z1|O14805|Q6DR95|Q7LFU2	37	CCDS93.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592116	0.86953	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.11	5.11	0.69529	ThiJ/PfpI (1);	0.098549	0.64402	D	0.000001	D	0.92805	0.7712	M	0.90145	3.09	0.80722	D	1	D	0.64830	0.994	D	0.63488	0.915	D	0.93915	0.7200	10	0.72032	D	0.01	.	14.4721	0.67523	0.0:0.0:1.0:0.0	.	104	Q99497	PARK7_HUMAN	T	104	ENSP00000340278:A104T;ENSP00000418770:A104T;ENSP00000366711:A104T;ENSP00000366708:A104T	ENSP00000340278:A104T	A	+	1	0	PARK7	7953598	1.000000	0.71417	0.970000	0.41538	0.583000	0.36354	8.154000	0.89641	2.542000	0.85734	0.650000	0.86243	GCC	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003577.1		+	ENST00000493678.1	Missense_Mutation	SNP	1 : 8031011 - 8031011 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	411	5
PBXIP1	57326	broad.mit.edu	37	1	154918663	154918663	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:154918663T>A	ENST00000368463.3	-	10	1558	c.1487A>T	c.(1486-1488)gAa>gTa	p.E496V	PBXIP1_ENST00000539880.1_Missense_Mutation_p.E323V|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E467V|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E341V	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	496					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGGCCAGATTCTTCCTTCTT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	177	174			NA	NA	1		NA											NA				154918663		2203	4300	6503	SO:0001583	missense			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346	57326	57326			21199	protein-coding gene	gene with protein product			pre-B-cell leukemia transcription factor interacting protein 1		NA	7505766, 10825160	Standard	NM_020524	NM_020524	NA	Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1487A>T	1.37:g.154918663T>A	ENSP00000357448:p.Glu496Val	NA	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	T	9.099	1.003675	0.19121	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.16743	2.33;2.32;2.4;2.35	5.0	-0.118	0.13547	.	0.910077	0.09504	N	0.793175	T	0.05868	0.0153	L	0.46157	1.445	0.25606	N	0.986545	P	0.49358	0.923	P	0.46110	0.504	T	0.18967	-1.0320	10	0.41790	T	0.15	-1.4959	1.4242	0.02319	0.1407:0.1709:0.1462:0.5422	.	496	Q96AQ6	PBIP1_HUMAN	V	467;496;496;323;272;341	ENSP00000357450:E467V;ENSP00000357448:E496V;ENSP00000440142:E323V;ENSP00000438584:E341V	ENSP00000295523:E496V	E	-	2	0	PBXIP1	153185287	0.002000	0.14202	0.074000	0.20217	0.034000	0.12701	-0.111000	0.10807	-0.172000	0.10779	-0.377000	0.06932	GAA	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090943.1		-	ENST00000368463.3	Missense_Mutation	SNP	1 : 154918663 - 154918663 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1839	16
PCDHB8	56128	broad.mit.edu	37	5	140559337	140559337	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:140559337C>T	ENST00000239444.2	+	1	1967	c.1722C>T	c.(1720-1722)acC>acT	p.T574T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	574	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	18	15			NA	NA	5		NA											NA				140559337		2148	4213	6361	SO:0001819	synonymous_variant			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322	56128	56128		Cadherins / Protocadherins : Clustered	8693	other	protocadherin		606334			NA	10380929	Standard	NM_019120	NM_019120	NA	Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1722C>T	5.37:g.140559337C>T		NA		37	CCDS4250.1																																																																																			PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251816.2		+	ENST00000239444.2	Silent	SNP	5 : 140559337 - 140559337 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1332	8
PDZD4	57595	broad.mit.edu	37	X	153069953	153069953	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:153069953C>T	ENST00000164640.4	-	8	1356	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	PDZD4_ENST00000393758.2_Missense_Mutation_p.V314I|PDZD4_ENST00000544474.1_Missense_Mutation_p.V280I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	389						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGCGGTTGACGTCCAGGGCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	40	43			NA	NA	X		NA											NA				153069953		2203	4300	6503	SO:0001583	missense			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840	57595	57595			21167	protein-coding gene	gene with protein product		300634		PDZK4	NA	10819331, 15077175	Standard	NM_032512	NM_032512	NA	Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1165G>A	X.37:g.153069953C>T	ENSP00000164640:p.Val389Ile	NA	B3KXB1|Q8NB75|Q9BUH9|Q9P284	37	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020509	0.35606	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.04706	3.57;3.57;3.77	5.02	5.02	0.67125	.	0.000000	0.34338	U	0.004046	T	0.09291	0.0229	L	0.46157	1.445	0.43857	D	0.996456	D;P;D;D;D	0.60575	0.98;0.956;0.988;0.988;0.98	P;P;B;P;P	0.48488	0.579;0.475;0.38;0.539;0.579	T	0.15636	-1.0430	10	0.39692	T	0.17	-44.1464	16.1719	0.81822	0.0:1.0:0.0:0.0	.	280;395;389;314;293	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	I	389;314;293;280	ENSP00000164640:V389I;ENSP00000377355:V314I;ENSP00000442033:V280I	ENSP00000164640:V389I	V	-	1	0	PDZD4	152723147	0.830000	0.29337	0.989000	0.46669	0.807000	0.45602	2.646000	0.46630	2.069000	0.61940	0.436000	0.28706	GTC	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061013.3		-	ENST00000164640.4	Missense_Mutation	SNP	X : 153069953 - 153069953 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	346	18
PLXNA1	5361	broad.mit.edu	37	3	126736303	126736303	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:126736303C>T	ENST00000393409.2	+	17	3312	c.3312C>T	c.(3310-3312)tgC>tgT	p.C1104C	PLXNA1_ENST00000251772.4_Silent_p.C1081C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1104	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCATGGTATGCCGCGCCCCGT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	48	48			NA	NA	3		NA											NA				126736303		2203	4299	6502	SO:0001819	synonymous_variant			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554	5361	5361		Plexins	9099	protein-coding gene	gene with protein product		601055		PLXN1	NA	8570614	Standard	NM_032242	NM_032242	NA	Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3312C>T	3.37:g.126736303C>T		NA		37	CCDS33847.2																																																																																			PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356451.1		+	ENST00000393409.2	Silent	SNP	3 : 126736303 - 126736303 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	372	5
POU4F3	5459	broad.mit.edu	37	5	145719395	145719395	+	Silent	SNP	G	G	A	rs145372405	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:145719395G>A	ENST00000230732.4	+	2	494	c.405G>A	c.(403-405)ccG>ccA	p.P135P	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	135					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGCGCTCCGGAACACTCGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	58	58	58		405	-4.4	1	5	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	POU4F3	NM_002700.2		0,2,6500	AA,AG,GG	NA	0.0116,0.0227,0.0154		135/339	145719395	2,13002	2203	4299	6502	SO:0001819	synonymous_variant			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010	5459	5459		Homeoboxes / POU class	9220	protein-coding gene	gene with protein product		602460	POU domain class 4, transcription factor 3	DFNA15	NA	9506947	Standard	NM_002700	NM_002700	NA	Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.405G>A	5.37:g.145719395G>A		NA	O60557|Q2M3F8	37	CCDS4281.1																																																																																			POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251887.2		+	ENST00000230732.4	Silent	SNP	5 : 145719395 - 145719395 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	321	33
PRUNE2	158471	broad.mit.edu	37	9	79318999	79318999	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:79318999T>C	ENST00000376718.3	-	9	7653	c.7530A>G	c.(7528-7530)atA>atG	p.I2510M	PRUNE2_ENST00000428286.1_Missense_Mutation_p.I2151M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2510					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCAATTCTGATATTTCCTTGC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	103	106			NA	NA	9		NA											NA				79318999		1568	3582	5150	SO:0001583	missense			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7530A>G	9.37:g.79318999T>C	ENSP00000365908:p.Ile2510Met	NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.506|8.506	0.865365|0.865365	0.17250|0.17250	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|T	0.46451|0.43294	0.88;0.87|0.95	5.76|5.76	-4.85|-4.85	0.03142|0.03142	.|.	0.937666|0.937666	0.08922|0.08922	N|N	0.874209|0.874209	T|T	0.24624|0.24624	0.0597|0.0597	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B|.	0.25486|.	0.127|.	B|.	0.19148|.	0.024|.	T|T	0.33445|0.33445	-0.9868|-0.9868	10|8	0.66056|0.17832	D|T	0.02|0.49	-0.3915|-0.3915	0.7931|0.7931	0.01061|0.01061	0.2162:0.3068:0.1812:0.2958|0.2162:0.3068:0.1812:0.2958	.|.	2510|.	Q8WUY3|.	PRUN2_HUMAN|.	M|V	2510;2151;2509|1832	ENSP00000365908:I2510M;ENSP00000397425:I2151M|ENSP00000389706:I1832V	ENSP00000365908:I2510M|ENSP00000389706:I1832V	I|I	-|-	3|1	3|0	PRUNE2|PRUNE2	78508819|78508819	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.769000|0.769000	0.43574|0.43574	-2.307000|-2.307000	0.01132|0.01132	-0.425000|-0.425000	0.07371|0.07371	0.533000|0.533000	0.62120|0.62120	ATA|ATC	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Missense_Mutation	SNP	9 : 79318999 - 79318999 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	630	5
PTPRZ1	5803	broad.mit.edu	37	7	121694078	121694078	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:121694078G>A	ENST00000449182.1	+	25	3905	c.3766G>A	c.(3766-3768)Gat>Aat	p.D1256N	PTPRZ1_ENST00000393386.2_Missense_Mutation_p.D2123N	NM_001206839.1	NP_001193768.1	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2123					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TATGATTCCTGATGGCCAAAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	172	175			NA	NA	7		NA											NA				121694078		2203	4300	6503	SO:0001583	missense			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278	5803	5803		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ	NA	7736789, 8387522	Standard	NM_002851	NM_001206838	NA	Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000449182.1:c.3766G>A	7.37:g.121694078G>A	ENSP00000410000:p.Asp1256Asn	NA	A4D0W5|O76043|Q9UDR6	37	CCDS56505.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029859	0.54790	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11063	2.81;2.81	5.39	4.5	0.54988	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.077127	0.53938	D	0.000057	T	0.20659	0.0497	L	0.31371	0.925	0.53688	D	0.999979	B;P;P	0.46987	0.449;0.888;0.775	B;P;P	0.60236	0.202;0.871;0.697	T	0.01413	-1.1361	10	0.62326	D	0.03	.	16.0827	0.81014	0.0:0.1344:0.8656:0.0	.	1262;1256;2123	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	N	2123;1256	ENSP00000377047:D2123N;ENSP00000410000:D1256N	ENSP00000377047:D2123N	D	+	1	0	PTPRZ1	121481314	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	9.788000	0.99064	1.251000	0.43983	-0.274000	0.10170	GAT	PTPRZ1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347289.1		+	ENST00000449182.1	Missense_Mutation	SNP	7 : 121694078 - 121694078 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	779	69
RASA4	10156	broad.mit.edu	37	7	102246410	102246410	+	Missense_Mutation	SNP	G	G	A	rs151024405	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:102246410G>A	ENST00000262940.7	-	5	390	c.323C>T	c.(322-324)aCg>aTg	p.T108M	RASA4_ENST00000462172.1_Missense_Mutation_p.T36M|RASA4_ENST00000461209.1_Missense_Mutation_p.T36M|RASA4_ENST00000449970.2_Missense_Mutation_p.T108M|RP11-514P8.6_ENST00000519541.1_3'UTR	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN	RAS p21 protein activator 4	108					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	metal ion binding|Ras GTPase activator activity			lung(1)|prostate(1)|urinary_tract(1)	3						GTCGACCTCCGTCAGGTGGGC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR,MET/THR	12,4384		0,12,2186	34	23	27		323,323	1.8	1	7	dbSNP_134	27	1,8547		0,1,4273	no	missense,missense	RASA4	NM_001079877.2,NM_006989.5	81,81	0,13,6459	AA,AG,GG	NA	0.0117,0.273,0.1004	benign,benign	108/758,108/804	102246410	13,12931	2198	4274	6472	SO:0001583	missense			AB011110	CCDS5725.1, CCDS47674.1	7q22-q31.1	2008-12-05			ENSG00000105808	ENSG00000105808	10156	10156			23181	protein-coding gene	gene with protein product		607943			NA	11448776	Standard	NM_006989	NM_001079877	NA	Approved	KIAA0538, CAPRI, GAPL	uc003vae.3	O43374	OTTHUMG00000150383	ENST00000262940.7:c.323C>T	7.37:g.102246410G>A	ENSP00000262940:p.Thr108Met	NA	O60286|Q14CQ4|Q86UW3|Q96QU0	37	CCDS5725.1	.	.	.	.	.	.	.	.	.	.	g	13.58	2.279748	0.40294	0.00273	1.17E-4	ENSG00000105808	ENST00000262940;ENST00000461209;ENST00000449970;ENST00000541884;ENST00000462172;ENST00000522801;ENST00000520042	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	2.72	1.8	0.24995	C2 calcium/lipid-binding domain, CaLB (1);	0.678790	0.12625	N	0.452674	T	0.58395	0.2119	L	0.39898	1.24	0.29908	N	0.823812	B;B	0.22080	0.064;0.048	B;B	0.21360	0.034;0.021	T	0.55250	-0.8170	10	0.45353	T	0.12	.	7.113	0.25401	0.1532:0.0:0.8468:0.0	.	108;108	O43374-2;O43374	.;RASL2_HUMAN	M	108;36;108;36;36;89;36	ENSP00000262940:T108M;ENSP00000420352:T36M;ENSP00000412876:T108M;ENSP00000438250:T36M;ENSP00000417395:T36M;ENSP00000430418:T89M;ENSP00000428732:T36M	ENSP00000262940:T108M	T	-	2	0	RASA4	102033478	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-0.149000	0.10204	0.691000	0.31592	0.525000	0.51046	ACG	RASA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317900.3		-	ENST00000262940.7	Missense_Mutation	SNP	7 : 102246410 - 102246410 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	367	6
RNF149	284996	broad.mit.edu	37	2	101898405	101898405	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:101898405G>A	ENST00000295317.3	-	6	1182	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	359						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCTGATGGTGGACTGCTGTCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(25;331 612 6521 7355 31028)							NA				0													168	150	157			NA	NA	2		NA											NA				101898405		2203	4300	6503	SO:0001583	missense			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162	284996	284996		RING-type (C3HC4) zinc fingers	23137	protein-coding gene	gene with protein product					NA		Standard	NM_173647	NM_173647	NA	Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1075C>T	2.37:g.101898405G>A	ENSP00000295317:p.Pro359Ser	NA	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	37	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	6.110	0.388625	0.11581	.	.	ENSG00000163162	ENST00000295317	T	0.09255	3.0	5.63	0.874	0.19124	.	1.265960	0.05900	N	0.629823	T	0.02888	0.0086	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40608	-0.9554	10	0.06099	T	0.92	.	4.9472	0.13994	0.5279:0.0:0.3314:0.1408	.	359	Q8NC42	RN149_HUMAN	S	359	ENSP00000295317:P359S	ENSP00000295317:P359S	P	-	1	0	RNF149	101264837	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.576000	0.23744	0.190000	0.20209	0.563000	0.77884	CCA	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253180.2		-	ENST00000295317.3	Missense_Mutation	SNP	2 : 101898405 - 101898405 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	657	6
RNF19A	25897	broad.mit.edu	37	8	101299991	101299991	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:101299991G>A	ENST00000519449.1	-	3	728	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	138					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTAGAATGCCGCAAAAGGCAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	108	107			NA	NA	8		NA											NA				101299991		2203	4300	6503	SO:0001583	missense			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677	25897	25897		RING-type (C3HC4) zinc fingers	13432	protein-coding gene	gene with protein product		607119	ring finger protein 19, ring finger protein 19A, ring finger protein 19A, E3 ubiquitin protein ligase	RNF19	NA	11237715, 10976766	Standard	NM_015435	NM_183419	NA	Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.412C>T	8.37:g.101299991G>A	ENSP00000428968:p.Arg138Trp	NA	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139684	0.77775	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.84146	-1.81;-1.81	5.57	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.056803	0.64402	D	0.000001	D	0.88123	0.6352	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	P	0.53490	0.727	D	0.87527	0.2450	10	0.66056	D	0.02	.	10.4328	0.44417	0.07:0.0:0.7955:0.1345	.	138	Q9NV58	RN19A_HUMAN	W	138	ENSP00000428968:R138W;ENSP00000342667:R138W	ENSP00000342667:R138W	R	-	1	2	RNF19A	101369167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.654000	0.67974	0.707000	0.31934	-0.142000	0.14014	CGG	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380004.1		-	ENST00000519449.1	Missense_Mutation	SNP	8 : 101299991 - 101299991 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	873	6
SCN3A	6328	broad.mit.edu	37	2	165986734	165986734	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:165986734C>T	ENST00000283254.7	-	17	3105	c.2638G>A	c.(2638-2640)Ggg>Agg	p.G880R	SCN3A_ENST00000360093.3_Missense_Mutation_p.G880R|SCN3A_ENST00000409101.3_Missense_Mutation_p.G831R	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	880						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCTAGAGCCCCCACAGAATTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	126	126			NA	NA	2		NA											NA				165986734		2203	4300	6503	SO:0001583	missense			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253	6328	6328		Sodium channels, Voltage-gated ion channels / Sodium channels	10590	protein-coding gene	gene with protein product		182391	sodium channel, voltage-gated, type III, alpha polypeptide		NA	9589372, 16382098	Standard	NM_006922	NM_001081676	NA	Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000283254.7:c.2638G>A	2.37:g.165986734C>T	ENSP00000283254:p.Gly880Arg	NA	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	37	CCDS33312.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092709	0.94149	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000014	D	0.97983	0.9336	L	0.53617	1.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99100	1.0843	10	0.87932	D	0	.	19.353	0.94398	0.0:1.0:0.0:0.0	.	880;831;831;831;880	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	880;880;831;831	ENSP00000353206:G880R;ENSP00000283254:G880R;ENSP00000386726:G831R;ENSP00000403348:G831R	ENSP00000283254:G880R	G	-	1	0	SCN3A	165694980	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.571000	0.86741	0.563000	0.77884	GGG	SCN3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102655.2		-	ENST00000283254.7	Missense_Mutation	SNP	2 : 165986734 - 165986734 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	913	7
SIGLEC9	27180	broad.mit.edu	37	19	51629104	51629104	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:51629104G>A	ENST00000440804.3	+	2	739	c.672G>A	c.(670-672)acG>acA	p.T224T	SIGLEC9_ENST00000250360.3_Silent_p.T224T	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	224	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCGTGACCACGAACAAGACCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4405		0,1,2202	86	82	84		672,672	-5.8	0	19		84	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	SIGLEC9	NM_001198558.1,NM_014441.2	,	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	,	224/480,224/464	51629104	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450	27180	27180		Sialic acid binding Ig-like lectins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10878	protein-coding gene	gene with protein product		605640			NA	10903842	Standard	NM_014441	NM_014441	NA	Approved	CD329	uc002pvu.3	Q9Y336		ENST00000440804.3:c.672G>A	19.37:g.51629104G>A		NA	Q6GTU4|Q9BYI9	37	CCDS56100.1																																																																																			SIGLEC9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464244.1		+	ENST00000440804.3	Silent	SNP	19 : 51629104 - 51629104 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	679	6
SLC12A5	57468	broad.mit.edu	37	20	44685057	44685057	+	Silent	SNP	C	C	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:44685057C>A	ENST00000243964.3	+	23	3062	c.2964C>A	c.(2962-2964)tcC>tcA	p.S988S	SLC12A5_ENST00000454036.2_Silent_p.S1011S	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1011					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTCCCCGTCCCCAGGGGAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	33	34			NA	NA	20		NA											NA				44685057		2203	4300	6503	SO:0001819	synonymous_variant			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140	57468	57468		Solute carriers	13818	protein-coding gene	gene with protein product		606726			NA		Standard		NM_020708	NA	Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000243964.3:c.2964C>A	20.37:g.44685057C>A		NA	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	37	CCDS13391.1																																																																																			SLC12A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079558.2		+	ENST00000243964.3	Silent	SNP	20 : 44685057 - 44685057 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	208	5
SNRNP200	23020	broad.mit.edu	37	2	96943638	96943638	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:96943638C>T	ENST00000323853.5	-	40	5738	c.5661G>A	c.(5659-5661)ccG>ccA	p.P1887P	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1887	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTTGACGTGCGGATCATTGA	0.498		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	LOWCOV	NA	NA	6e-04	SNP								NA				0													133	140	138			NA	NA	2		NA											NA				96943638		2203	4300	6503	SO:0001819	synonymous_variant			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028	23020	23020			30859	protein-coding gene	gene with protein product	U5 snRNP specific protein, 200 KD	601664	activating signal cointegrator 1 complex subunit 3-like 1, retinitis pigmentosa 33 (autosomal dominant)	ASCC3L1, RP33	NA	9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014	NM_014014	NA	Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5661G>A	2.37:g.96943638C>T		NA	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	37	CCDS2020.1																																																																																			SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252846.2		-	ENST00000323853.5	Silent	SNP	2 : 96943638 - 96943638 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	755	21
SNX2	6643	broad.mit.edu	37	5	122152644	122152644	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:122152644G>A	ENST00000514949.1	+	9	1285	c.482G>A	c.(481-483)gGa>gAa	p.G161E	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000379516.2_Missense_Mutation_p.G278E	NM_001278199.1	NP_001265128.1	O60749	SNX2_HUMAN	sorting nexin 2	278	PX.				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GCTCTGAGTGGAGCAGGAATA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	69	69			NA	NA	5		NA											NA				122152644		2203	4300	6503	SO:0001583	missense			AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302	6643	6643		Sorting nexins	11173	protein-coding gene	gene with protein product		605929			NA	9819414	Standard	NM_003100	NM_003100	NA	Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000514949.1:c.482G>A	5.37:g.122152644G>A	ENSP00000421663:p.Gly161Glu	NA	B3KN44|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	37		.	.	.	.	.	.	.	.	.	.	G	26.9	4.778916	0.90195	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.27104	1.74;1.69	5.93	5.93	0.95920	.	0.161709	0.56097	D	0.000027	T	0.43478	0.1249	M	0.87180	2.865	0.80722	D	1	B	0.24920	0.114	B	0.28916	0.096	T	0.44205	-0.9343	10	0.87932	D	0	-20.0384	20.3334	0.98727	0.0:0.0:1.0:0.0	.	278	O60749	SNX2_HUMAN	E	278;161	ENSP00000368831:G278E;ENSP00000421663:G161E	ENSP00000368831:G278E	G	+	2	0	SNX2	122180543	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.688000	0.98670	2.818000	0.97014	0.591000	0.81541	GGA	SNX2-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371402.1		+	ENST00000514949.1	Missense_Mutation	SNP	5 : 122152644 - 122152644 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	208	6
SPPL2A	84888	broad.mit.edu	37	15	51012246	51012246	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:51012246T>C	ENST00000261854.5	-	14	1653	c.1379A>G	c.(1378-1380)aAg>aGg	p.K460R		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	460						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AGGTTGCCCCTTTTTCATCAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(50;790 1209 4069 22965 33125)							NA				0													128	111	117			NA	NA	15		NA											NA				51012246		2196	4294	6490	SO:0001583	missense				CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600	84888	84888			30227	protein-coding gene	gene with protein product	intramembrane protease 3, presenilin-like protein 2	608238			NA	12077416, 12139484	Standard	NM_032802	NM_032802	NA	Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1379A>G	15.37:g.51012246T>C	ENSP00000261854:p.Lys460Arg	NA	B2RDS0|Q8TAW1|Q96SZ8	37	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	5.356	0.250885	0.10130	.	.	ENSG00000138600	ENST00000261854	T	0.17054	2.3	5.66	4.52	0.55395	.	0.218396	0.51477	D	0.000088	T	0.06508	0.0167	N	0.04746	-0.17	0.20638	N	0.999871	P	0.41475	0.751	B	0.40982	0.345	T	0.14671	-1.0464	10	0.12766	T	0.61	-3.5127	1.9865	0.03437	0.2572:0.0784:0.1375:0.5268	.	460	Q8TCT8	PSL2_HUMAN	R	460	ENSP00000261854:K460R	ENSP00000261854:K460R	K	-	2	0	AC012100.1	48799538	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	2.041000	0.41213	0.955000	0.37878	0.477000	0.44152	AAG	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254543.3		-	ENST00000261854.5	Missense_Mutation	SNP	15 : 51012246 - 51012246 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	437	6
SPTBN5	51332	broad.mit.edu	37	15	42147503	42147503	+	Silent	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:42147503G>T	ENST00000320955.6	-	55	9569	c.9342C>A	c.(9340-9342)acC>acA	p.T3114T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3114					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGAGGAGCAGGGTCTCTCGCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	27	25			NA	NA	15		NA											NA				42147503		2048	4175	6223	SO:0001819	synonymous_variant			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877	51332	51332			15680	protein-coding gene	gene with protein product	beta V spectrin	605916			NA	10764729	Standard	NM_016642	NM_016642	NA	Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9342C>A	15.37:g.42147503G>T		NA		37																																																																																				SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000420237.1		-	ENST00000320955.6	Silent	SNP	15 : 42147503 - 42147503 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	178	16
ST18	9705	broad.mit.edu	37	8	53062293	53062293	+	Splice_Site	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:53062293T>C	ENST00000276480.7	-	16	2734	c.2051A>G	c.(2050-2052)gAg>gGg	p.E684G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	684						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAACAATACCTCTTTCTCCTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	65	65			NA	NA	8		NA											NA				53062293		2203	4300	6503	SO:0001630	splice_region_variant			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488	9705	9705		Zinc fingers, C2HC-type containing	18695	protein-coding gene	gene with protein product	neural zinc finger transcription factor 3		zinc finger protein 387, suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	ZNF387	NA	15489893	Standard		NM_014682	NA	Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2052+1A>G	8.37:g.53062293T>C		NA	Q17RY1	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256218	0.80246	.	.	ENSG00000147488	ENST00000276480	T	0.53857	0.6	5.53	5.53	0.82687	Myelin transcription factor 1 (1);	0.146632	0.64402	D	0.000011	T	0.72819	0.3508	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.75082	-0.3443	10	0.49607	T	0.09	-25.523	15.6592	0.77169	0.0:0.0:0.0:1.0	.	684	O60284	ST18_HUMAN	G	684	ENSP00000276480:E684G	ENSP00000276480:E684G	E	-	2	0	ST18	53224846	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.945000	0.70226	2.110000	0.64415	0.377000	0.23210	GAG	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377867.1	Missense_Mutation	-	ENST00000276480.7	Splice_Site	SNP	8 : 53062293 - 53062293 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	297	40
STX11	8676	broad.mit.edu	37	6	144508554	144508554	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:144508554C>T	ENST00000367568.4	+	2	973	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	264	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GGCGCAGGTGCGGAAGGCCGT	0.662		NA							Familial Hemophagocytic Lymphohistiocytosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	42	46			NA	NA	6		NA											NA				144508554		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604	8676	8676			11429	protein-coding gene	gene with protein product		605014			NA	9553086	Standard		NM_003764	NA	Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.790C>T	6.37:g.144508554C>T	ENSP00000356540:p.Arg264Trp	NA	E1P598|O75378|O95148|Q5TCL6	37	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859393	0.71834	.	.	ENSG00000135604	ENST00000367568	T	0.46819	0.86	5.72	-0.0131	0.13985	Target SNARE coiled-coil domain (3);	0.166104	0.50627	D	0.000102	T	0.54498	0.1862	M	0.81341	2.54	0.41833	D	0.990089	D	0.76494	0.999	D	0.66979	0.948	T	0.62627	-0.6814	10	0.87932	D	0	-8.3158	11.0735	0.48016	0.6554:0.252:0.0926:0.0	.	264	O75558	STX11_HUMAN	W	264	ENSP00000356540:R264W	ENSP00000356540:R264W	R	+	1	2	STX11	144550247	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.975000	0.40569	0.045000	0.15804	0.655000	0.94253	CGG	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042544.1		+	ENST00000367568.4	Missense_Mutation	SNP	6 : 144508554 - 144508554 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	214	31
SYNE1	23345	broad.mit.edu	37	6	152749427	152749427	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:152749427G>A	ENST00000367255.5	-	37	5490	c.4889C>T	c.(4888-4890)gCg>gTg	p.A1630V	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1700V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1630					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTAGAGCCGCAGCCTCCTG	0.587		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	143	143			NA	NA	6		NA											NA				152749427		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4889C>T	6.37:g.152749427G>A	ENSP00000356224:p.Ala1630Val	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764279	0.31228	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.52754	1.26;1.26;1.26;1.26;0.65;0.65	5.87	-3.59	0.04583	.	1.567860	0.03778	N	0.260842	T	0.13841	0.0335	L	0.46157	1.445	0.09310	N	1	B;B;B;B;B	0.24092	0.001;0.003;0.009;0.003;0.097	B;B;B;B;B	0.15484	0.001;0.001;0.004;0.001;0.013	T	0.07986	-1.0744	10	0.29301	T	0.29	.	1.7392	0.02948	0.3723:0.0905:0.3194:0.2177	.	1613;1630;1630;1630;1637	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1630;1637;1630;1637;1700;1630	ENSP00000356224:A1630V;ENSP00000396024:A1637V;ENSP00000265368:A1630V;ENSP00000390975:A1637V;ENSP00000341887:A1700V;ENSP00000356222:A1630V	ENSP00000265368:A1630V	A	-	2	0	SYNE1	152791120	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.564000	0.05936	-0.565000	0.06061	-0.122000	0.15005	GCG	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152749427 - 152749427 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1217	8
SYTL4	94121	broad.mit.edu	37	X	99956515	99956515	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:99956515G>A	ENST00000372981.1	-	3	451	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	SYTL4_ENST00000276141.6_Missense_Mutation_p.R89W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R89W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R89W|SYTL4_ENST00000372989.1_Missense_Mutation_p.R89W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R89W			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	89	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGGCAGTCCCGACACACCAGG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	90	96			NA	NA	X		NA											NA				99956515		2203	4300	6503	SO:0001583	missense				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362	94121	94121			15588	protein-coding gene	gene with protein product	granuphilin-a, exophilin-2	300723			NA		Standard	NM_080737	NM_080737	NA	Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372981.1:c.265C>T	X.37:g.99956515G>A	ENSP00000362072:p.Arg89Trp	NA	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	37		.	.	.	.	.	.	.	.	.	.	G	15.73	2.920656	0.52653	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.25	4.39	0.52855	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.262657	0.37530	N	0.002046	D	0.82356	0.5019	M	0.63843	1.955	0.29637	N	0.845039	D;D	0.76494	0.999;0.986	P;P	0.62382	0.901;0.487	T	0.77707	-0.2487	9	.	.	.	-4.0888	8.1107	0.30914	0.0833:0.0:0.7602:0.1565	.	89;89	Q96C24-2;Q96C24	.;SYTL4_HUMAN	W	89	ENSP00000362080:R89W;ENSP00000390252:R89W;ENSP00000403556:R89W;ENSP00000276141:R89W;ENSP00000263033:R89W;ENSP00000362072:R89W	.	R	-	1	2	SYTL4	99843171	0.987000	0.35691	0.961000	0.40146	0.629000	0.37895	3.328000	0.52052	1.119000	0.41883	0.600000	0.82982	CGG	SYTL4-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000057490.1		-	ENST00000372981.1	Missense_Mutation	SNP	X : 99956515 - 99956515 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	904	172
TBX22	50945	broad.mit.edu	37	X	79279655	79279655	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:79279655A>G	ENST00000373294.5	+	3	478	c.450A>G	c.(448-450)aaA>aaG	p.K150K	TBX22_ENST00000373291.1_Silent_p.K30K|TBX22_ENST00000373296.3_Silent_p.K150K|TBX22_ENST00000442340.1_Silent_p.K30K	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	150					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGGATTCCAAACGCTATAGGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	118	129			NA	NA	X		NA											NA				79279655		2203	4300	6503	SO:0001819	synonymous_variant			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145	50945	50945		T-boxes	11600	protein-coding gene	gene with protein product		300307	cleft palate and/or ankyloglossia	CPX, CLPA	NA	11559848, 14729838	Standard	NM_016954	NM_001109878	NA	Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.450A>G	X.37:g.79279655A>G		NA	Q96LC0|Q9HBF1	37	CCDS14445.1																																																																																			TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057334.1		+	ENST00000373294.5	Silent	SNP	X : 79279655 - 79279655 G PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	487	108
TCERG1	10915	broad.mit.edu	37	5	145826931	145826931	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:145826931G>T	ENST00000296702.5	+	1	57	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	TCERG1_ENST00000394421.2_Missense_Mutation_p.D7Y	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	7					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGTGGCGGGGACGGGGGCGA	0.617		NA									OREG0016896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	28	28			NA	NA	5		NA											NA				145826931		2202	4299	6501	SO:0001583	missense			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649	10915	10915			15630	protein-coding gene	gene with protein product	transcription factor CA150, co-activator of 150 kDa, TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD, TATA box-binding protein-associated factor 2S	605409	TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD	TAF2S	NA	9315662, 11003711	Standard	NM_001040006	XM_005268365	NA	Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.19G>T	5.37:g.145826931G>T	ENSP00000296702:p.Asp7Tyr	1697	Q2NKN2|Q59EA1	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985832	0.53934	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.25414	1.8;1.8	5.03	5.03	0.67393	.	0.231983	0.38837	N	0.001560	T	0.19685	0.0473	N	0.14661	0.345	0.35204	D	0.774513	P;P;P	0.50943	0.94;0.902;0.842	B;P;B	0.47981	0.36;0.563;0.36	T	0.12116	-1.0560	10	0.72032	D	0.01	-11.5435	9.5825	0.39497	0.0931:0.0:0.9069:0.0	.	7;7;7	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	Y	7	ENSP00000296702:D7Y;ENSP00000377943:D7Y	ENSP00000296702:D7Y	D	+	1	0	TCERG1	145807124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.332000	0.52083	2.782000	0.95742	0.655000	0.94253	GAC	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251886.1		+	ENST00000296702.5	Missense_Mutation	SNP	5 : 145826931 - 145826931 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	104	6
TECTA	7007	broad.mit.edu	37	11	120998885	120998885	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:120998885C>T	ENST00000392793.1	+	9	2470	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	TECTA_ENST00000264037.2_Silent_p.S733S			O75443	TECTA_HUMAN	tectorin alpha	733	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTCCCCTCCGAGTTCTCCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	89	93			NA	NA	11		NA											NA				120998885		2203	4299	6502	SO:0001819	synonymous_variant			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927	7007	7007			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21	NA	9503015, 9590290	Standard	NM_005422	NM_005422	NA	Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2199C>T	11.37:g.120998885C>T		NA		37	CCDS8434.1																																																																																			TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313850.1		+	ENST00000392793.1	Silent	SNP	11 : 120998885 - 120998885 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1031	225
TEP1	7011	broad.mit.edu	37	14	20851408	20851408	+	Silent	SNP	A	A	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:20851408A>C	ENST00000556935.1	-	25	3687	c.3648T>G	c.(3646-3648)tcT>tcG	p.S1216S	TEP1_ENST00000262715.5_Silent_p.S1324S			Q99973	TEP1_HUMAN	telomerase-associated protein 1	1324	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGCCCGAGCAGAGGCCTCCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	35	34			NA	NA	14		NA											NA				20851408		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566	7011	7011		WD repeat domain containing	11726	protein-coding gene	gene with protein product	TROVE domain family, member 1	601686			NA	9403057	Standard	NM_007110	NM_007110	NA	Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000556935.1:c.3648T>G	14.37:g.20851408A>C		NA	A0AUV9	37																																																																																				TEP1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410689.1		-	ENST00000556935.1	Silent	SNP	14 : 20851408 - 20851408 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	253	25
TFDP3	51270	broad.mit.edu	37	X	132351106	132351106	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:132351106G>A	ENST00000310125.4	-	1	1270	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	394	Asp/Glu-rich (acidic; NCB domain).					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCGTCATCGTTGTTGTCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	94			NA	NA	X		NA											NA				132351106		2201	4299	6500	SO:0001819	synonymous_variant			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434	51270	51270			24603	protein-coding gene	gene with protein product	E2F-like protein, cancer/testis antigen 30	300772			NA	12097419	Standard	NM_016521	NM_016521	NA	Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.1182C>T	X.37:g.132351106G>A		NA	Q6DK49|Q9NZ54	37	CCDS14636.2																																																																																			TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058337.1		-	ENST00000310125.4	Silent	SNP	X : 132351106 - 132351106 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	890	202
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.733G>A	17.37:g.7577548C>T	ENSP00000391127:p.Gly245Ser	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577548 - 7577548 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	485	103
TRANK1	9881	broad.mit.edu	37	3	36872996	36872996	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:36872996T>A	ENST00000428977.2	-	11	6571	c.6296A>T	c.(6295-6297)gAg>gTg	p.E2099V	TRANK1_ENST00000429976.2_Missense_Mutation_p.E2649V|TRANK1_ENST00000301807.6_Missense_Mutation_p.E2099V			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2649					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCATCCATCTCATCCTGGCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	73	72			NA	NA	3		NA											NA				36872996		2058	4189	6247	SO:0001583	missense			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016	9881	9881		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	29011	protein-coding gene	gene with protein product	lupus brain antigen 1, KIAA0342				NA	9205841	Standard	NM_014831	NM_014831	NA	Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000428977.2:c.6296A>T	3.37:g.36872996T>A	ENSP00000416826:p.Glu2099Val	NA	Q8N8K0	37		.	.	.	.	.	.	.	.	.	.	T	13.18	2.160380	0.38119	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35236	1.32;1.73;1.32	5.6	4.41	0.53225	.	0.096709	0.44902	D	0.000403	T	0.31482	0.0798	M	0.65975	2.015	0.30121	N	0.805724	P	0.40731	0.728	B	0.28139	0.086	T	0.43734	-0.9373	10	0.87932	D	0	.	11.1111	0.48232	0.0:0.0:0.1553:0.8447	.	2649	O15050	TRNK1_HUMAN	V	2099;2649;2099	ENSP00000416826:E2099V;ENSP00000416168:E2649V;ENSP00000301807:E2099V	ENSP00000301807:E2099V	E	-	2	0	TRANK1	36848000	0.949000	0.32298	0.652000	0.29579	0.537000	0.34900	2.449000	0.44935	1.035000	0.39972	0.459000	0.35465	GAG	TRANK1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000369655.1		-	ENST00000428977.2	Missense_Mutation	SNP	3 : 36872996 - 36872996 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	158	17
TXNDC2	84203	broad.mit.edu	37	18	9886941	9886941	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:9886941A>G	ENST00000357775.5	+	2	499	c.264A>G	c.(262-264)aaA>aaG	p.K88K	TXNDC2_ENST00000536353.2_Silent_p.K88K|TXNDC2_ENST00000306084.6_Silent_p.K155K	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	NA					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCTCAGCAAAACCCATCCAGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	137	135			NA	NA	18		NA											NA				9886941		2203	4300	6503	SO:0001819	synonymous_variant			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454	NA	84203			16470	protein-coding gene	gene with protein product	sperm-specific thioredoxin 1				NA	11230166, 11399755	Standard		NM_001098529	NA	Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000357775.5:c.264A>G	18.37:g.9886941A>G		NA	Q8N7U4|Q96RX3|Q9H0L8	37	CCDS11846.1																																																																																			TXNDC2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254488.3		+	ENST00000357775.5	Silent	SNP	18 : 9886941 - 9886941 G PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	1322	8
TYK2	7297	broad.mit.edu	37	19	10476252	10476252	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:10476252C>G	ENST00000525621.1	-	7	1433	c.952G>C	c.(952-954)Gtg>Ctg	p.V318L	TYK2_ENST00000264818.6_Missense_Mutation_p.V318L|TYK2_ENST00000529370.1_Missense_Mutation_p.V318L|TYK2_ENST00000524462.1_Missense_Mutation_p.V133L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	318	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GTGCCTGTCACCAGCACCTCG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	61	57			NA	NA	19		NA											NA				10476252		2203	4300	6503	SO:0001583	missense				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	7297	7297	2.7.10.1		12440	protein-coding gene	gene with protein product		176941			NA	2156206	Standard		NM_003331	NA	Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.952G>C	19.37:g.10476252C>G	ENSP00000431885:p.Val318Leu	NA	Q6QB10|Q96CH0	37	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.086512|4.086512	0.76642|0.76642	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370|ENST00000525220	D;D;D;D|.	0.87650|.	-1.59;-1.56;-1.56;-2.28|.	5.18|5.18	5.18|5.18	0.71444|0.71444	FERM domain (1);|.	0.130327|.	0.32218|.	N|.	0.006403|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.81682|0.81682	2.555|2.555	0.54753|0.54753	D|D	0.999981|0.999981	D;D|.	0.67145|.	0.994;0.996|.	P;P|.	0.60286|.	0.804;0.872|.	T|T	0.78966|0.78966	-0.1995|-0.1995	10|5	0.87932|.	D|.	0|.	-30.7247|-30.7247	16.2126|16.2126	0.82170|0.82170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	318;318|.	E9PPF2;P29597|.	.;TYK2_HUMAN|.	L|C	133;318;318;65;318|96	ENSP00000433203:V133L;ENSP00000431885:V318L;ENSP00000264818:V318L;ENSP00000432728:V318L|.	ENSP00000264818:V318L|.	V|W	-|-	1|3	0|0	TYK2|TYK2	10337252|10337252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.489000|0.489000	0.33432|0.33432	4.262000|4.262000	0.58847|0.58847	2.422000|2.422000	0.82143|0.82143	0.561000|0.561000	0.74099|0.74099	GTG|TGG	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389443.1		-	ENST00000525621.1	Missense_Mutation	SNP	19 : 10476252 - 10476252 G PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	494	7
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358		NA	Mis		CLL, MDS									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201	7307	7307		RNA binding motif (RRM) containing	12453	protein-coding gene	gene with protein product		191317	U2(RNU2) small nuclear RNA auxiliary factor binding protein, U2(RNU2) small nuclear RNA auxiliary factor 1	U2AFBP	NA	8660980, 7956352	Standard	NM_006758	NM_006758	NA	Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe	NA		37	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195541.1		-	ENST00000291552.4	Missense_Mutation	SNP	21 : 44524456 - 44524456 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	315	31
UBE2NL	389898	broad.mit.edu	37	X	142967510	142967510	+	Missense_Mutation	SNP	G	G	A	rs150007003		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:142967510G>A	ENST00000370494.1	+	1	338	c.308G>A	c.(307-309)cGc>cAc	p.R103H		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	103							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGATCCGCACAGTTCTG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,3834		0,1,1631,571	110	95	100		308	1.2	1	X	dbSNP_134	100	1,6727		0,1,2427,1872	no	missense	UBE2NL	NM_001012989.1	29	0,2,4058,2443	AA,AG,GG,G	NA	0.0149,0.0261,0.0189	possibly-damaging	103/154	142967510	2,10561	2203	4300	6503	SO:0001583	missense					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069		389898	389898		Ubiquitin-conjugating enzymes E2	31710	protein-coding gene	gene with protein product			ubiquitin-conjugating enzyme E2N-like		NA	20736409	Standard	NM_001012989	NM_001012989	NA	Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.308G>A	X.37:g.142967510G>A	ENSP00000359525:p.Arg103His	NA		37	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	8.376	0.836434	0.16891	2.61E-4	1.49E-4	ENSG00000102069	ENST00000370494	T	0.38560	1.13	1.16	1.16	0.20824	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.265427	0.19850	U	0.104652	T	0.50990	0.1648	M	0.92970	3.365	0.58432	D	0.999995	B	0.31009	0.303	B	0.35278	0.199	T	0.57476	-0.7805	10	0.56958	D	0.05	11.1641	7.9726	0.30136	0.0:0.0:1.0:0.0	.	103	Q5JXB2	UE2NL_HUMAN	H	103	ENSP00000359525:R103H	ENSP00000359525:R103H	R	+	2	0	UBE2NL	142795176	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	6.239000	0.72356	0.899000	0.36444	0.181000	0.17075	CGC	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058624.1		+	ENST00000370494.1	Missense_Mutation	SNP	X : 142967510 - 142967510 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	964	6
UNC79	57578	broad.mit.edu	37	14	94038340	94038340	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:94038340C>A	ENST00000553484.1	+	15	2010	c.1856C>A	c.(1855-1857)tCt>tAt	p.S619Y	UNC79_ENST00000555664.1_Missense_Mutation_p.S619Y|UNC79_ENST00000393151.2_Missense_Mutation_p.S619Y|UNC79_ENST00000256339.4_Missense_Mutation_p.S442Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	619						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCAATCAATCTGTCTGGGAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	85	87			NA	NA	14		NA											NA				94038340		2203	4300	6503	SO:0001583	missense			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	57578	57578			19966	protein-coding gene	gene with protein product			KIAA1409	KIAA1409	NA	20714347, 21040849	Standard	XM_028395	NM_020818	NA	Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000553484.1:c.1856C>A	14.37:g.94038340C>A	ENSP00000451360:p.Ser619Tyr	NA	Q6ZUT7	37		.	.	.	.	.	.	.	.	.	.	C	17.14	3.312739	0.60414	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.83	5.83	0.93111	.	0.131908	0.49916	D	0.000137	T	0.11452	0.0279	N	0.08118	0	0.37678	D	0.923394	P	0.41569	0.755	B	0.34301	0.179	T	0.13229	-1.0517	10	0.72032	D	0.01	-12.7204	14.9138	0.70778	0.1431:0.8569:0.0:0.0	.	619	C9JQL1	.	Y	442;619;619;619;619	ENSP00000256339:S442Y;ENSP00000450868:S619Y;ENSP00000451360:S619Y;ENSP00000376858:S619Y	ENSP00000256339:S442Y	S	+	2	0	KIAA1409	93108093	1.000000	0.71417	0.986000	0.45419	0.820000	0.46376	5.662000	0.68032	2.766000	0.95052	0.650000	0.86243	TCT	UNC79-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000074289.4		+	ENST00000553484.1	Missense_Mutation	SNP	14 : 94038340 - 94038340 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	343	12
WWP2	11060	broad.mit.edu	37	16	69832593	69832593	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:69832593G>A	ENST00000359154.2	+	3	180	c.79G>A	c.(79-81)Gca>Aca	p.A27T	WWP2_ENST00000356003.2_Missense_Mutation_p.A27T|WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000569174.1_Missense_Mutation_p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	27	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGGTGTCCGCAAAGCCCAA	0.527		NA									OREG0023909	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													117	115	116			NA	NA	16		NA											NA				69832593		2198	4300	6498	SO:0001583	missense			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373	11060	11060			16804	protein-coding gene	gene with protein product		602308			NA	9169421, 12167593	Standard	NM_007014	NM_007014	NA	Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.79G>A	16.37:g.69832593G>A	ENSP00000352069:p.Ala27Thr	1117	A6NEP1|B2R706|Q96CZ2|Q9BWN6	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551721	0.86127	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.80738	-1.41;-1.41;-1.41	5.76	5.76	0.90799	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.198406	0.45606	D	0.000349	T	0.76054	0.3934	M	0.67397	2.05	0.80722	D	1	P	0.46020	0.871	B	0.32583	0.148	T	0.78339	-0.2242	9	.	.	.	.	16.6952	0.85333	0.0:0.0:1.0:0.0	.	27	O00308	WWP2_HUMAN	T	27	ENSP00000352069:A27T;ENSP00000396871:A27T;ENSP00000348283:A27T	.	A	+	1	0	WWP2	68390094	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.778000	0.62368	2.713000	0.92767	0.655000	0.94253	GCA	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268954.1		+	ENST00000359154.2	Missense_Mutation	SNP	16 : 69832593 - 69832593 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	734	7
ZNF462	58499	broad.mit.edu	37	9	109686870	109686870	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:109686870G>A	ENST00000277225.5	+	3	966	c.677G>A	c.(676-678)cGc>cAc	p.R226H	ZNF462_ENST00000457913.1_Missense_Mutation_p.R226H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	226					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTGTGGAGCGCAGCATCTTA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	61	60	60		677	5.8	1	9		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF462	NM_021224.4	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	226/2507	109686870	1,13005	2203	4300	6503	SO:0001583	missense			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143	58499	58499		Zinc fingers, C2H2-type	21684	protein-coding gene	gene with protein product					NA		Standard	NM_021224	NM_021224	NA	Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.677G>A	9.37:g.109686870G>A	ENSP00000277225:p.Arg226His	NA	Q5T0T4|Q8N408	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176741	0.57692	0.0	1.16E-4	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08102	3.13;3.58	5.82	5.82	0.92795	.	0.117145	0.64402	D	0.000013	T	0.19805	0.0476	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.94	T	0.01249	-1.1406	9	.	.	.	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	226;226	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	226	ENSP00000277225:R226H;ENSP00000414570:R226H	.	R	+	2	0	ZNF462	108726691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.515000	0.67049	2.761000	0.94854	0.655000	0.94253	CGC	ZNF462-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053532.2		+	ENST00000277225.5	Missense_Mutation	SNP	9 : 109686870 - 109686870 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	364	6
ZNF576	79177	broad.mit.edu	37	19	44103397	44103397	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44103397G>A	ENST00000336564.4	+	3	654	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000533118.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000528387.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000529930.1_Missense_Mutation_p.R167Q|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000391965.2_Missense_Mutation_p.R167Q	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CGGCATGCCCGGGGGGAGCTC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	26	27			NA	NA	19		NA											NA				44103397		2203	4299	6502	SO:0001583	missense			AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444	79177	79177		Zinc fingers, C2H2-type	28357	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024327	NM_024327	NA	Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.500G>A	19.37:g.44103397G>A	ENSP00000337852:p.Arg167Gln	NA	Q9BU03	37	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013050	0.75161	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01347	4.99;4.99;4.99;4.99;4.99;4.99	4.04	3.01	0.34805	Zinc finger, C2H2 (1);	0.190264	0.34580	N	0.003841	T	0.01189	0.0039	L	0.41236	1.265	0.80722	D	1	P	0.47106	0.89	B	0.31547	0.132	T	0.67738	-0.5593	10	0.66056	D	0.02	-20.071	7.5009	0.27518	0.1158:0.0:0.8842:0.0	.	167	Q9H609	ZN576_HUMAN	Q	167	ENSP00000375827:R167Q;ENSP00000436182:R167Q;ENSP00000435899:R167Q;ENSP00000435934:R167Q;ENSP00000435463:R167Q;ENSP00000337852:R167Q	ENSP00000337852:R167Q	R	+	2	0	ZNF576	48795237	0.064000	0.20934	0.993000	0.49108	0.676000	0.39594	1.784000	0.38674	1.306000	0.44926	0.655000	0.94253	CGG	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384397.1		+	ENST00000336564.4	Missense_Mutation	SNP	19 : 44103397 - 44103397 A PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	305	14
ZNF749	388567	broad.mit.edu	37	19	57956396	57956396	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:57956396T>C	ENST00000334181.4	+	3	2130	c.1880T>C	c.(1879-1881)cTg>cCg	p.L627P	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CGCTGTACACTGAGTAGACAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	64			NA	NA	19		NA											NA				57956396		2203	4300	6503	SO:0001583	missense			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230	388567	388567		Zinc fingers, C2H2-type, -	32783	protein-coding gene	gene with protein product					NA		Standard	NM_001023561	NM_001023561	NA	Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1880T>C	19.37:g.57956396T>C	ENSP00000333980:p.Leu627Pro	NA		37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521528	0.44866	.	.	ENSG00000186230	ENST00000334181	T	0.53857	0.6	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73009	0.3532	M	0.86740	2.835	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60042	-0.7340	9	0.87932	D	0	.	9.3548	0.38159	0.0:0.0:0.0:1.0	.	627	O43361	ZN749_HUMAN	P	627	ENSP00000333980:L627P	ENSP00000333980:L627P	L	+	2	0	ZNF749	62648208	0.071000	0.21146	0.001000	0.08648	0.364000	0.29643	2.842000	0.48230	1.069000	0.40788	0.260000	0.18958	CTG	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317879.1		+	ENST00000334181.4	Missense_Mutation	SNP	19 : 57956396 - 57956396 C PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	571	14
ZNF831	128611	broad.mit.edu	37	20	57766652	57766652	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:57766652C>T	ENST00000371030.2	+	1	578	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACAGGCGGACGCAGACGCAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	56	54			NA	NA	20		NA											NA				57766652		2055	4202	6257	SO:0001583	missense			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203	128611	128611			16167	protein-coding gene	gene with protein product			chromosome 20 open reading frame 174	C20orf174	NA		Standard	NM_178457	NM_178457	NA	Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.578C>T	20.37:g.57766652C>T	ENSP00000360069:p.Thr193Met	NA	Q5TDR4|Q8TCP0	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690629	0.48097	.	.	ENSG00000124203	ENST00000371030	T	0.31510	1.49	5.41	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42832	0.1220	L	0.27053	0.805	0.41770	D	0.989768	D	0.89917	1.0	D	0.85130	0.997	T	0.45614	-0.9249	9	0.87932	D	0	-12.0165	14.5325	0.67936	0.1475:0.8525:0.0:0.0	.	193	Q5JPB2	ZN831_HUMAN	M	193	ENSP00000360069:T193M	ENSP00000360069:T193M	T	+	2	0	ZNF831	57200047	1.000000	0.71417	0.993000	0.49108	0.156000	0.22039	7.755000	0.85180	1.259000	0.44117	0.561000	0.74099	ACG	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079916.2		+	ENST00000371030.2	Missense_Mutation	SNP	20 : 57766652 - 57766652 T PAAD-TCGA-HZ-8637-Tumor-SM-3MVDL	758	6
