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
C5AR2	27202	broad.mit.edu	37	19	47844495	47844495	+	Missense_Mutation	SNP	C	C	T	rs149871591	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:47844495C>T	ENST00000595464.1	+	2	657	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	C5AR2_ENST00000257267.2_Missense_Mutation_p.R147W|C5AR2_ENST00000600626.1_Missense_Mutation_p.R147W	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2	NA											NA						TACGGTTCAGCGGGCGTGCGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56	56	56		439	0.9	0	19	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GPR77	NM_018485.1	101	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	probably-damaging	147/338	47844495	2,13004	2203	4300	6503	SO:0001583	missense			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830	27202	27202		GPCR / Class A : Complement component receptors	4527	protein-coding gene	gene with protein product		609949	G protein-coupled receptor 77	GPR77	NA	11165367	Standard	NM_018485	NM_018485	NA	Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.439C>T	19.37:g.47844495C>T	ENSP00000472620:p.Arg147Trp	NA		37	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330253	0.41297	2.27E-4	1.16E-4	ENSG00000134830	ENST00000257267	T	0.38722	1.12	4.34	0.918	0.19386	GPCR, rhodopsin-like superfamily (1);	0.416766	0.20526	U	0.090603	T	0.39009	0.1062	M	0.81497	2.545	0.09310	N	1	B	0.31290	0.318	B	0.28553	0.091	T	0.39396	-0.9616	10	0.66056	D	0.02	.	5.4763	0.16697	0.1603:0.6547:0.0:0.1849	.	147	Q9P296	C5ARL_HUMAN	W	147	ENSP00000257267:R147W	ENSP00000257267:R147W	R	+	1	2	GPR77	52536335	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.363000	0.07593	0.466000	0.27193	0.462000	0.41574	CGG	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466926.1		+	ENST00000595464.1	Missense_Mutation	SNP	19 : 47844495 - 47844495 T PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	686	74
CLVS1	157807	broad.mit.edu	37	8	62212794	62212794	+	Silent	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:62212794C>T	ENST00000519846.1	+	3	880	c.408C>T	c.(406-408)taC>taT	p.Y136Y	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Silent_p.Y136Y|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	136	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Y136*(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGACCATTACGGCAGGAAGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	lung(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182	157807	157807			23139	protein-coding gene	gene with protein product		611292	retinaldehyde binding protein 1-like 1	RLBP1L1	NA	16802092, 19651769	Standard	NM_173519	NM_173519	NA	Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.408C>T	8.37:g.62212794C>T		NA	B2R7M5|C8UZT3|Q8NB32	37	CCDS6176.1																																																																																			CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378323.1		+	ENST00000519846.1	Silent	SNP	8 : 62212794 - 62212794 T PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	404	53
DCHS1	8642	broad.mit.edu	37	11	6662161	6662161	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:6662161A>C	ENST00000299441.3	-	2	1095	c.684T>G	c.(682-684)taT>taG	p.Y228*		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCACCATCATAGGCCTCCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	106	108			NA	NA	11		NA											NA				6662161		2201	4296	6497	SO:0001587	stop_gained			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.684T>G	11.37:g.6662161A>C	ENSP00000299441:p.Tyr228*	NA	O15098	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	37	6.418677	0.97550	.	.	ENSG00000166341	ENST00000299441	.	.	.	4.18	-1.56	0.08532	.	0.000000	0.42294	D	0.000731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.368	0.44035	0.6186:0.0:0.3814:0.0	.	.	.	.	X	228	.	ENSP00000299441:Y228X	Y	-	3	2	DCHS1	6618737	0.966000	0.33281	0.995000	0.50966	0.991000	0.79684	0.258000	0.18387	-0.379000	0.07906	0.445000	0.29226	TAT	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1		-	ENST00000299441.3	Nonsense_Mutation	SNP	11 : 6662161 - 6662161 C PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	770	125
DGKB	1607	broad.mit.edu	37	7	14724956	14724956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:14724956C>T	ENST00000403951.2	-	10	1162	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	DGKB_ENST00000258767.5_Missense_Mutation_p.R248Q|DGKB_ENST00000402815.1_Missense_Mutation_p.R248Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.R248Q|DGKB_ENST00000407950.1_Missense_Mutation_p.R241Q|DGKB_ENST00000444700.2_Missense_Mutation_p.R241Q|DGKB_ENST00000406247.3_Missense_Mutation_p.R248Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	248					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GTGCTTCAGTCGCCACACGTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	106	106			NA	NA	7		NA											NA				14724956		2199	4292	6491	SO:0001583	missense			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	1607	1607	2.7.1.107	EF-hand domain containing	2850	protein-coding gene	gene with protein product		604070	diacylglycerol kinase, beta (90kD)	DAGK2	NA	7689223	Standard	NM_004080	NM_004080	NA	Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.743G>A	7.37:g.14724956C>T	ENSP00000385780:p.Arg248Gln	NA	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	36	5.902986	0.97087	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	6.16	6.16	0.99307	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.052374	0.64402	D	0.000001	D	0.94683	0.8285	L	0.43701	1.375	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.995;0.995;1.0	D;P;P;D	0.70227	0.943;0.876;0.876;0.968	D	0.93847	0.7142	10	0.52906	T	0.07	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	248;241;248;248	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	Q	248;248;248;248;241;241;248	ENSP00000385780:R248Q;ENSP00000382260:R248Q;ENSP00000258767:R248Q;ENSP00000384909:R248Q;ENSP00000385031:R241Q;ENSP00000388451:R241Q;ENSP00000386066:R248Q	ENSP00000258767:R248Q	R	-	2	0	DGKB	14691481	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGA	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326356.2		-	ENST00000403951.2	Missense_Mutation	SNP	7 : 14724956 - 14724956 T PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	381	71
DLGAP4	22839	broad.mit.edu	37	20	35060133	35060133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:35060133G>A	ENST00000373913.3	+	3	493	c.13G>A	c.(13-15)Ggt>Agt	p.G5S	DLGAP4_ENST00000373907.2_Missense_Mutation_p.G5S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G5S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G5S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	5					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAAAGGCCTCGGTGACAGCCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	17			NA	NA	20		NA											NA				35060133		2145	4230	6375	SO:0001583	missense			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845	22839	22839			24476	protein-coding gene	gene with protein product					NA	9115257	Standard	NM_014902	XM_005260329	NA	Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373913.3:c.13G>A	20.37:g.35060133G>A	ENSP00000363023:p.Gly5Ser	NA	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	37	CCDS13274.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651735	0.29336	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.67	3.36	0.38483	.	0.151756	0.64402	D	0.000016	T	0.45438	0.1342	N	0.19112	0.55	0.44852	D	0.997862	D	0.89917	1.0	D	0.91635	0.999	T	0.39165	-0.9627	10	0.02654	T	1	.	11.4918	0.50385	0.0787:0.1303:0.7911:0.0	.	5	Q9Y2H0-1	.	S	5	ENSP00000363023:G5S;ENSP00000384954:G5S;ENSP00000363014:G5S;ENSP00000341633:G5S	ENSP00000341633:G5S	G	+	1	0	DLGAP4	34493547	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.453000	0.66645	1.377000	0.46286	0.561000	0.74099	GGT	DLGAP4-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079023.1		+	ENST00000373913.3	Missense_Mutation	SNP	20 : 35060133 - 35060133 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	388	56
FAM179B	23116	broad.mit.edu	37	14	45473306	45473306	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:45473306T>C	ENST00000361462.2	+	4	2564	c.2381T>C	c.(2380-2382)tTt>tCt	p.F794S	FAM179B_ENST00000382233.2_Missense_Mutation_p.F794S|FAM179B_ENST00000361577.3_Missense_Mutation_p.F794S|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	794							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CAGCAAACATTTGGTAGTCAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	77	81			NA	NA	14		NA											NA				45473306		2203	4300	6503	SO:0001583	missense			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718	23116	23116			19959	protein-coding gene	gene with protein product			KIAA0423	KIAA0423	NA		Standard	XM_113781	XM_005267451	NA	Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361462.2:c.2381T>C	14.37:g.45473306T>C	ENSP00000354917:p.Phe794Ser	NA	Q68D66|Q6PG27	37		.	.	.	.	.	.	.	.	.	.	T	19.28	3.798217	0.70567	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.13538	2.58;2.58;4.05;4.05	5.56	4.4	0.53042	Armadillo-type fold (1);	0.352636	0.27253	N	0.020216	T	0.17916	0.0430	N	0.24115	0.695	0.27467	N	0.952969	P;D;D	0.62365	0.567;0.974;0.991	B;P;P	0.56563	0.175;0.57;0.801	T	0.02901	-1.1096	10	0.87932	D	0	-10.7199	11.2492	0.49015	0.0:0.0:0.1532:0.8468	.	794;794;794	G3XAE9;Q9Y4F4;Q9Y4F4-2	.;F179B_HUMAN;.	S	794;794;794;794;113	ENSP00000355045:F794S;ENSP00000354917:F794S;ENSP00000371668:F794S;ENSP00000451141:F113S	ENSP00000354917:F794S	F	+	2	0	FAM179B	44543056	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.528000	0.53524	0.916000	0.36871	0.460000	0.39030	TTT	FAM179B-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000276792.1		+	ENST00000361462.2	Missense_Mutation	SNP	14 : 45473306 - 45473306 C PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	359	58
FBN3	84467	broad.mit.edu	37	19	8130859	8130859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:8130859G>A	ENST00000600128.1	-	64	8788	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q2792*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q2792*			Q75N90	FBN3_HUMAN	fibrillin 3	2792						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCCTGGCTGCCCCTCTGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	31	31			NA	NA	19		NA											NA				8130859		2200	4296	6496	SO:0001587	stop_gained				CCDS12196.1	19p13	2008-02-05					84467	84467			18794	protein-coding gene	gene with protein product		608529			NA		Standard	NM_032447	NM_032447	NA	Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8374C>T	19.37:g.8130859G>A	ENSP00000470498:p.Gln2792*	NA	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	48	14.127981	0.99781	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	.	.	.	3.83	-4.06	0.03986	.	0.602780	0.16277	U	0.221518	.	.	.	.	.	.	0.37599	D	0.920499	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.7216	0.40306	0.5538:0.0:0.4462:0.0	.	.	.	.	X	2792;855	.	ENSP00000270509:Q2792X	Q	-	1	0	FBN3	8036859	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.106000	0.15354	-0.844000	0.04184	-0.768000	0.03414	CAG	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461428.2		-	ENST00000600128.1	Nonsense_Mutation	SNP	19 : 8130859 - 8130859 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	410	53
FLG	2312	broad.mit.edu	37	1	152277769	152277769	+	Missense_Mutation	SNP	A	A	C	rs143183339		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:152277769A>C	ENST00000368799.1	-	3	9628	c.9593T>G	c.(9592-9594)gTc>gGc	p.V3198G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3198	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCCCTGGACTGCCTGTGA	0.552		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLY/VAL	2,4404	823.4+/-416.5	0,2,2201	124	147	139		9593	-1.8	0	1	dbSNP_134	139	0,8592		0,0,4296	no	missense	FLG	NM_002016.1	109	0,2,6497	CC,CA,AA	NA	0.0,0.0454,0.0154	benign	3198/4062	152277769	2,12996	2203	4296	6499	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9593T>G	1.37:g.152277769A>C	ENSP00000357789:p.Val3198Gly	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	1.935	-0.444964	0.04604	4.54E-4	0.0	ENSG00000143631	ENST00000368799	T	0.01963	4.53	1.93	-1.78	0.07957	.	.	.	.	.	T	0.00144	0.0004	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32402	-0.9908	9	0.10636	T	0.68	.	0.4443	0.00491	0.198:0.336:0.196:0.27	.	3198	P20930	FILA_HUMAN	G	3198	ENSP00000357789:V3198G	ENSP00000357789:V3198G	V	-	2	0	FLG	150544393	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.291000	0.08343	-0.950000	0.03659	-0.383000	0.06682	GTC	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152277769 - 152277769 C PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	2770	304
GLI3	2737	broad.mit.edu	37	7	42004926	42004926	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:42004926A>C	ENST00000395925.3	-	15	3829	c.3745T>G	c.(3745-3747)Tgt>Ggt	p.C1249G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1249					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGGCCTTACAGGGCTGTTCA	0.612		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	76	75			NA	NA	7		NA											NA				42004926		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571	2737	2737		Zinc fingers, C2H2-type	4319	protein-coding gene	gene with protein product	zinc finger protein GLI3, oncogene GLI3, DNA-binding protein	165240	Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3	GCPS, PHS	NA	2118997	Standard	NM_000168	NM_000168	NA	Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3745T>G	7.37:g.42004926A>C	ENSP00000379258:p.Cys1249Gly	NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	A	8.711	0.912013	0.17907	.	.	ENSG00000106571	ENST00000395925	T	0.12465	2.68	5.8	3.26	0.37387	.	0.934476	0.09053	N	0.855569	T	0.12475	0.0303	L	0.49126	1.545	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19451	-1.0305	10	0.26408	T	0.33	.	5.4414	0.16511	0.4156:0.3209:0.0:0.2635	.	1249	P10071	GLI3_HUMAN	G	1249	ENSP00000379258:C1249G	ENSP00000379258:C1249G	C	-	1	0	GLI3	41971451	0.095000	0.21747	0.036000	0.18154	0.117000	0.20001	1.910000	0.39927	2.209000	0.71365	0.533000	0.62120	TGT	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Missense_Mutation	SNP	7 : 42004926 - 42004926 C PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	660	75
GLI3	2737	broad.mit.edu	37	7	42004927	42004927	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:42004927G>A	ENST00000395925.3	-	15	3828	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1248					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGCCTTACAGGGCTGTTCAT	0.617		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	77	75			NA	NA	7		NA											NA				42004927		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571	2737	2737		Zinc fingers, C2H2-type	4319	protein-coding gene	gene with protein product	zinc finger protein GLI3, oncogene GLI3, DNA-binding protein	165240	Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3	GCPS, PHS	NA	2118997	Standard	NM_000168	NM_000168	NA	Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3744C>T	7.37:g.42004927G>A		NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1																																																																																			GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Silent	SNP	7 : 42004927 - 42004927 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	560	65
IGSF1	3547	broad.mit.edu	37	X	130408064	130408064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:130408064G>A	ENST00000370904.1	-	25	4751	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.R1295*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.R1281*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.R1290*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1290					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TACCTGGTTCGCAGTCGAGGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	218	225			NA	NA	X		NA											NA				130408064		2203	4300	6503	SO:0001587	stop_gained			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255	3547	3547		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5948	protein-coding gene	gene with protein product		300137			NA	9521868, 9729118	Standard		NM_001555	NA	Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000370904.1:c.3841C>T	X.37:g.130408064G>A	ENSP00000359941:p.Arg1281*	NA	B5MEG2|O15070|Q9NTC8	37	CCDS55490.1	.	.	.	.	.	.	.	.	.	.	G	42	9.400588	0.99159	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	4.48	4.48	0.54585	.	0.350736	0.21139	N	0.079510	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4099	0.49919	0.0:0.0:1.0:0.0	.	.	.	.	X	1281;1290;1281;1295	.	ENSP00000355010:R1290X	R	-	1	2	IGSF1	130235745	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.588000	0.36633	2.465000	0.83290	0.544000	0.68410	CGA	IGSF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058286.1		-	ENST00000370904.1	Nonsense_Mutation	SNP	X : 130408064 - 130408064 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	1623	268
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		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.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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 : 25398285 - 25398285 G PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	183	23
KRT31	3881	broad.mit.edu	37	17	39551782	39551782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:39551782T>C	ENST00000251645.2	-	4	734	c.682A>G	c.(682-684)Acc>Gcc	p.T228A		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	228	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGACTCCTGGTCTCGTTCAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	91	95			NA	NA	17		NA											NA				39551782		2203	4300	6503	SO:0001583	missense			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796	3881	3881		-, Intermediate filaments type I, keratins (acidic)	6448	protein-coding gene	gene with protein product	hard keratin type I 1	601077	keratin, hair, acidic, 1	KRTHA1	NA	7578244, 16831889	Standard	NM_002277	NM_002277	NA	Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.682A>G	17.37:g.39551782T>C	ENSP00000251645:p.Thr228Ala	NA	Q9UE12	37	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	t	13.06	2.125541	0.37533	.	.	ENSG00000094796	ENST00000251645	D	0.88586	-2.4	5.4	4.33	0.51752	Filament (1);	0.180058	0.39759	N	0.001269	D	0.86764	0.6011	L	0.50333	1.59	0.31092	N	0.710708	B	0.22604	0.072	B	0.32980	0.156	D	0.84831	0.0802	10	0.87932	D	0	.	10.2699	0.43477	0.0:0.0774:0.0:0.9226	.	228	Q15323	K1H1_HUMAN	A	228	ENSP00000251645:T228A	ENSP00000251645:T228A	T	-	1	0	KRT31	36805308	0.978000	0.34361	0.998000	0.56505	0.529000	0.34654	1.848000	0.39309	0.888000	0.36160	0.460000	0.39030	ACC	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257286.1		-	ENST00000251645.2	Missense_Mutation	SNP	17 : 39551782 - 39551782 C PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	565	86
LRCH3	84859	broad.mit.edu	37	3	197553808	197553808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:197553808C>T	ENST00000438796.2	+	5	744	c.700C>T	c.(700-702)Cct>Tct	p.P234S	LRCH3_ENST00000414675.2_Missense_Mutation_p.P234S|LRCH3_ENST00000334859.4_Missense_Mutation_p.P234S|LRCH3_ENST00000441090.2_Missense_Mutation_p.P108S|LRCH3_ENST00000425562.2_Missense_Mutation_p.P234S			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	234						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TACCACAATCCCTGTTTGTTA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	140	145			NA	NA	3		NA											NA				197553808		2203	4300	6503	SO:0001583	missense			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001	84859	84859			28637	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032773	NM_032773	NA	Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000438796.2:c.700C>T	3.37:g.197553808C>T	ENSP00000399751:p.Pro234Ser	NA	Q96FP9|Q9NT52	37		.	.	.	.	.	.	.	.	.	.	C	33	5.261561	0.95368	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.59502	1.85;0.26;1.85;1.85;1.85	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.78773	0.4336	M	0.81614	2.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.97110	1.0;1.0;1.0;0.966	T	0.81291	-0.0999	10	0.87932	D	0	-15.0214	19.3993	0.94621	0.0:1.0:0.0:0.0	.	108;234;234;234	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	S	234;108;234;234;234	ENSP00000399751:P234S;ENSP00000394609:P108S;ENSP00000394965:P234S;ENSP00000334375:P234S;ENSP00000393579:P234S	ENSP00000334375:P234S	P	+	1	0	LRCH3	199038205	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.421000	0.80204	2.654000	0.90174	0.650000	0.86243	CCT	LRCH3-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000339960.1		+	ENST00000438796.2	Missense_Mutation	SNP	3 : 197553808 - 197553808 T PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	516	28
MBOAT7	79143	broad.mit.edu	37	19	54691118	54691118	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:54691118G>A	ENST00000245615.1	-	4	738	c.258C>T	c.(256-258)ttC>ttT	p.F86F	MBOAT7_ENST00000431666.2_Intron|MBOAT7_ENST00000391754.1_Silent_p.F86F|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Intron	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	86					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGGGCTCGGAAGAACAGGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(97;826 2151 10470 22540)							NA				0													57	60	59			NA	NA	19		NA											NA				54691118		2195	4298	6493	SO:0001819	synonymous_variant			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505	79143	79143			15505	protein-coding gene	gene with protein product	lysophosphatidylinositol acyltransferase	606048	leukocyte receptor cluster (LRC) member 4	LENG4	NA	10941842, 8702217, 18094042	Standard	NM_024298	NM_024298	NA	Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.258C>T	19.37:g.54691118G>A		NA	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	37	CCDS12883.1																																																																																			MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142203.1		-	ENST00000245615.1	Silent	SNP	19 : 54691118 - 54691118 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	110	16
NRG1	3084	broad.mit.edu	37	8	32505402	32505402	+	Missense_Mutation	SNP	G	G	A	rs148668339		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:32505402G>A	ENST00000520502.2	+	1	166	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	NRG1_ENST00000338921.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGGCCTGGCCGTGCCCTGCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,,,,,,,,,,,MET/VAL,,,	0,4406		0,0,2203	65	62	63		,,,,,,,,,,,,166,,,	1.6	0	8	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,intron	NRG1	NM_001159995.1,NM_001159999.1,NM_001160001.1,NM_001160002.1,NM_001160004.1,NM_001160005.1,NM_001160007.1,NM_001160008.1,NM_004495.3,NM_013956.3,NM_013957.3,NM_013958.3,NM_013959.3,NM_013960.3,NM_013962.2,NM_013964.3	,,,,,,,,,,,,21,,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,,,,,,,,,,,,,,	,,,,,,,,,,,,56/297,,,	32505402	1,13005	2203	4300	6503	SO:0001583	missense			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168	3084	3084		Immunoglobulin superfamily / I-set domain containing	7997	protein-coding gene	gene with protein product		142445	NRG1 intronic transcript 2 (non-protein coding)	HGL, NRG1-IT2	NA	1350381, 8095334	Standard		NM_013962	NA	Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000520502.2:c.166G>A	8.37:g.32505402G>A	ENSP00000433289:p.Val56Met	NA	A5YAK4|A5YAK5|A8K1L2|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	37	CCDS6087.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057731	0.19907	0.0	1.16E-4	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	6.08	1.64	0.23874	.	.	.	.	.	T	0.13884	0.0336	N	0.19112	0.55	0.09310	N	1	P;B	0.42123	0.771;0.317	B;B	0.30105	0.111;0.049	T	0.15407	-1.0438	8	0.72032	D	0.01	.	3.9902	0.09533	0.1103:0.2075:0.4709:0.2113	.	56;56	Q53F54;Q02297-10	.;.	M	56;16	.	ENSP00000433289:V56M	V	+	1	0	NRG1	32624944	0.004000	0.15560	0.000000	0.03702	0.656000	0.38851	1.487000	0.35540	0.415000	0.25817	0.655000	0.94253	GTG	NRG1-011	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376979.2		+	ENST00000520502.2	Missense_Mutation	SNP	8 : 32505402 - 32505402 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	403	55
OR10K2	391107	broad.mit.edu	37	1	158390039	158390039	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:158390039G>A	ENST00000314902.2	-	1	617	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGATAGCCAGGACCAATGTAC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	131	135			NA	NA	1		NA											NA				158390039		2203	4300	6503	SO:0001819	synonymous_variant			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708	391107	391107		GPCR / Class A : Olfactory receptors	14826	protein-coding gene	gene with protein product					NA		Standard	NM_001004476	NM_001004476	NA	Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.618C>T	1.37:g.158390039G>A		NA		37	CCDS30896.1																																																																																			OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051854.1		-	ENST00000314902.2	Silent	SNP	1 : 158390039 - 158390039 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	462	50
PES1	23481	broad.mit.edu	37	22	30983324	30983324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:30983324C>T	ENST00000405677.1	-	0	843				PES1_ENST00000354694.7_Missense_Mutation_p.R106H|PES1_ENST00000402284.3_Missense_Mutation_p.R106H|PES1_ENST00000335214.6_Missense_Mutation_p.R106H|PES1_ENST00000402281.1_5'UTR	NM_001282328.1	NP_001269257.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	NA					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GTCCTTTAAACGCTCTACAGT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													306	246	266			NA	NA	22		NA											NA				30983324		2203	4300	6503	SO:0001623	5_prime_UTR_variant			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029	23481	23481			8848	protein-coding gene	gene with protein product		605819	pescadillo (zebrafish) homolog 1, containing BRCT domain, pescadillo homolog 1, containing BRCT domain (zebrafish)		NA	8985183, 10591208, 17353269	Standard	NM_014303	NM_014303	NA	Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.-101G>A	22.37:g.30983324C>T		NA	Q6IC29	37		.	.	.	.	.	.	.	.	.	.	C	22.3	4.272796	0.80580	.	.	ENSG00000100029	ENST00000354694;ENST00000402284;ENST00000335214;ENST00000433575	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.51736	0.1692	M	0.75085	2.285	0.80722	D	1	B;B;B;B	0.32245	0.361;0.25;0.14;0.361	B;B;B;B	0.28232	0.041;0.087;0.024;0.041	T	0.55147	-0.8186	10	0.54805	T	0.06	-9.5911	19.2042	0.93723	0.0:1.0:0.0:0.0	.	106;106;106;106	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	H	106	ENSP00000346725:R106H;ENSP00000384252:R106H;ENSP00000334612:R106H;ENSP00000388071:R106H	ENSP00000334612:R106H	R	-	2	0	PES1	29313324	1.000000	0.71417	0.990000	0.47175	0.937000	0.57800	7.192000	0.77771	2.650000	0.89964	0.655000	0.94253	CGT	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321189.2		-	ENST00000405677.1	5'UTR	SNP	22 : 30983324 - 30983324 T PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	452	72
RRAGC	64121	broad.mit.edu	37	1	39305328	39305328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:39305328A>C	ENST00000373001.3	-	7	1273	c.1097T>G	c.(1096-1098)gTt>gGt	p.V366G	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	366					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CACCTCAAAAACCTCATGAAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	113	117			NA	NA	1		NA											NA				39305328		2203	4300	6503	SO:0001583	missense			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954	64121	64121			19902	protein-coding gene	gene with protein product		608267			NA	11073942	Standard	NM_022157	NM_022157	NA	Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.1097T>G	1.37:g.39305328A>C	ENSP00000362092:p.Val366Gly	NA	Q9H202|Q9H8Q8	37	CCDS430.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082251	0.76528	.	.	ENSG00000116954	ENST00000373001	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76071	0.987;0.944;0.979	D	0.87774	0.2607	9	0.62326	D	0.03	-33.3787	16.2355	0.82371	1.0:0.0:0.0:0.0	.	332;300;366	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	G	366	.	ENSP00000362092:V366G	V	-	2	0	RRAGC	39077915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.238000	0.73509	0.533000	0.62120	GTT	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001222.2		-	ENST00000373001.3	Missense_Mutation	SNP	1 : 39305328 - 39305328 C PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	403	15
SACS	26278	broad.mit.edu	37	13	23906194	23906194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:23906194G>A	ENST00000382292.3	-	9	12094	c.11821C>T	c.(11821-11823)Caa>Taa	p.Q3941*	SACS_ENST00000402364.1_Nonsense_Mutation_p.Q3191*|SACS_ENST00000382298.3_Nonsense_Mutation_p.Q3941*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3941					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTAACATTTGCACACCAATA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	117	120			NA	NA	13		NA											NA				23906194		2203	4300	6503	SO:0001587	stop_gained			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	26278	26278		Heat shock proteins / DNAJ (HSP40)	10519	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 138	604490	spastic ataxia of Charlevoix-Saguenay (sacsin)		NA	10610707, 15057823, 21726565	Standard	NM_014363	NM_001278055	NA	Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11821C>T	13.37:g.23906194G>A	ENSP00000371729:p.Gln3941*	NA	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	58	33.524865	0.99981	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.82	5.82	0.92795	.	0.053109	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.1013	0.97878	0.0:0.0:1.0:0.0	.	.	.	.	X	3941;3191;3941	.	ENSP00000371729:Q3941X	Q	-	1	0	SACS	22804194	1.000000	0.71417	0.990000	0.47175	0.948000	0.59901	9.865000	0.99609	2.748000	0.94277	0.655000	0.94253	CAA	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044148.3		-	ENST00000382292.3	Nonsense_Mutation	SNP	13 : 23906194 - 23906194 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	840	94
SEMG2	6407	broad.mit.edu	37	20	43851593	43851593	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:43851593G>C	ENST00000372769.3	+	2	1410	c.1320G>C	c.(1318-1320)gaG>gaC	p.E440D		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	440	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAACTGAAGAGAAAATACATG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	76			NA	NA	20		NA											NA				43851593		2203	4300	6503	SO:0001583	missense				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157	6407	6407			10743	protein-coding gene	gene with protein product	Semenogelin 2	182141			NA	1517240, 9523691	Standard	NM_003008	NM_003008	NA	Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1320G>C	20.37:g.43851593G>C	ENSP00000361855:p.Glu440Asp	NA	Q53ZU2|Q6X2M5|Q6X2M6	37	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	5.930	0.355577	0.11239	.	.	ENSG00000124157	ENST00000372769	T	0.10005	2.92	1.03	-1.67	0.08238	.	.	.	.	.	T	0.14141	0.0342	L	0.27053	0.805	0.09310	N	1	P;B	0.51057	0.941;0.004	D;B	0.71414	0.973;0.012	T	0.18209	-1.0344	9	0.41790	T	0.15	.	3.074	0.06240	0.0:0.2992:0.3985:0.3023	.	440;440	A8K6Z6;Q02383	.;SEMG2_HUMAN	D	440	ENSP00000361855:E440D	ENSP00000361855:E440D	E	+	3	2	SEMG2	43285007	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.388000	0.07352	-0.534000	0.06315	-1.468000	0.01013	GAG	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079417.1		+	ENST00000372769.3	Missense_Mutation	SNP	20 : 43851593 - 43851593 C PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	683	94
SSMEM1	136263	broad.mit.edu	37	7	129856144	129856144	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:129856144G>T	ENST00000297819.3	+	3	620	c.569G>T	c.(568-570)aGt>aTt	p.S190I		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1	NA											NA						AATCTGGGAAGTTACCAAATG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	111	111			NA	NA	7		NA											NA				129856144		2203	4300	6503	SO:0001583	missense			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120	136263	136263			29580	protein-coding gene	gene with protein product			chromosome 7 open reading frame 45	C7orf45	NA	12477932	Standard	NM_145268	NM_145268	NA	Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.569G>T	7.37:g.129856144G>T	ENSP00000297819:p.Ser190Ile	NA		37	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757670	0.31137	.	.	ENSG00000165120	ENST00000297819	T	0.54479	0.57	5.56	0.111	0.14619	.	0.349704	0.28332	N	0.015737	T	0.54447	0.1859	L	0.53249	1.67	0.09310	N	1	D	0.57571	0.98	P	0.54312	0.748	T	0.51301	-0.8723	10	0.72032	D	0.01	-0.2641	8.298	0.31997	0.4745:0.0:0.5255:0.0	.	190	Q8WWF3	CG045_HUMAN	I	190	ENSP00000297819:S190I	ENSP00000297819:S190I	S	+	2	0	C7orf45	129643380	0.722000	0.28017	0.010000	0.14722	0.267000	0.26476	0.500000	0.22562	-0.288000	0.09051	-0.339000	0.08088	AGT	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349768.1		+	ENST00000297819.3	Missense_Mutation	SNP	7 : 129856144 - 129856144 T PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	848	94
TAF5L	27097	broad.mit.edu	37	1	229730411	229730411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:229730411C>T	ENST00000366676.1	-	4	1402	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	TAF5L_ENST00000258281.2_Missense_Mutation_p.R468H			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	468					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R468P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGGGGCCACGGTGGCCTGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											76	81	79			NA	NA	1		NA											NA				229730411		2203	4300	6503	SO:0001583	missense			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801	27097	27097		WD repeat domain containing	17304	protein-coding gene	gene with protein product	PCAF associated factor 65 beta		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD		NA	9674425, 11124703	Standard	NM_014409	XM_005273100	NA	Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1403G>A	1.37:g.229730411C>T	ENSP00000355636:p.Arg468His	NA	Q5TDI5|Q5TDI6|Q8IW31	37	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987862	0.35036	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.60548	0.18;0.18	5.97	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047962	0.85682	D	0.000000	T	0.45935	0.1367	N	0.21097	0.63	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.37407	-0.9707	10	0.54805	T	0.06	-7.1912	15.1546	0.72730	0.0:0.9326:0.0:0.0674	.	468	O75529	TAF5L_HUMAN	H	468	ENSP00000355636:R468H;ENSP00000258281:R468H	ENSP00000258281:R468H	R	-	2	0	TAF5L	227797034	1.000000	0.71417	0.921000	0.36526	0.013000	0.08279	7.785000	0.85724	1.537000	0.49254	0.655000	0.94253	CGT	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095229.1		-	ENST00000366676.1	Missense_Mutation	SNP	1 : 229730411 - 229730411 T PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	937	63
TFB2M	64216	broad.mit.edu	37	1	246704361	246704361	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:246704361A>T	ENST00000366514.4	-	8	1348	c.1163T>A	c.(1162-1164)cTg>cAg	p.L388Q		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	388					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTCATCATACAGCCATTTATA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	119	124			NA	NA	1		NA											NA				246704361		2203	4300	6503	SO:0001583	missense			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851	64216	64216			18559	protein-coding gene	gene with protein product		607055			NA		Standard	NM_022366	NM_022366	NA	Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1163T>A	1.37:g.246704361A>T	ENSP00000355471:p.Leu388Gln	NA	Q9H626	37	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.567021	0.45694	.	.	ENSG00000162851	ENST00000366514	T	0.40476	1.03	5.23	5.23	0.72850	.	0.173798	0.38837	N	0.001547	T	0.56411	0.1983	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.59883	-0.7370	10	0.87932	D	0	-0.8824	12.7768	0.57453	1.0:0.0:0.0:0.0	.	388	Q9H5Q4	TFB2M_HUMAN	Q	388	ENSP00000355471:L388Q	ENSP00000355471:L388Q	L	-	2	0	TFB2M	244770984	0.993000	0.37304	0.292000	0.24919	0.018000	0.09664	4.722000	0.61958	2.108000	0.64289	0.528000	0.53228	CTG	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096673.1		-	ENST00000366514.4	Missense_Mutation	SNP	1 : 246704361 - 246704361 T PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	511	60
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:7578206T>C	ENST00000420246.2	-	6	775	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000269305.4_Missense_Mutation_p.S215G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (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.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)		ACCACCACACTATGTCGAAAA	0.537		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	43	Substitution - Missense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - deletion inframe(1)	ovary(6)|biliary_tract(5)|bone(5)|stomach(4)|oesophagus(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|urinary_tract(1)|liver(1)|skin(1)											125	112	116			NA	NA	17		NA											NA				7578206		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.643A>G	17.37:g.7578206T>C	ENSP00000391127:p.Ser215Gly	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	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274381	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.28	4.18	0.49190	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	0.99851	0.9931	M	0.90705	3.14	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;1.0;0.98;0.996;1.0;1.0;0.999	D	0.97163	0.9839	10	0.87932	D	0	-18.3023	10.6958	0.45899	0.0:0.0:0.1605:0.8394	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215G;ENSP00000352610:S215G;ENSP00000269305:S215G;ENSP00000398846:S215G;ENSP00000391127:S215G;ENSP00000391478:S215G;ENSP00000425104:S83G;ENSP00000423862:S122G	ENSP00000269305:S215G	S	-	1	0	TP53	7518931	1.000000	0.71417	0.471000	0.27229	0.962000	0.63368	6.146000	0.71777	0.919000	0.36945	0.460000	0.39030	AGT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578206 - 7578206 C PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	298	47
TTC3	7267	broad.mit.edu	37	21	38572533	38572533	+	Splice_Site	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:38572533G>A	ENST00000399017.2	+	45	8598	c.5851G>A	c.(5851-5853)Gca>Aca	p.A1951T	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Splice_Site_p.A1951T|TTC3_ENST00000355666.1_Splice_Site_p.A1951T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1951					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTTCCACAGGCACTGGGTGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(38;194 1649 35661)							NA				0													68	62	64			NA	NA	21		NA											NA				38572533		2203	4300	6503	SO:0001630	splice_region_variant			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670	7267	7267		RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing	12393	protein-coding gene	gene with protein product		602259			NA	8947847	Standard		NM_003316	NA	Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5851-1G>A	21.37:g.38572533G>A		NA	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	37	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.961|3.961	-0.010251|-0.010251	0.07727|0.07727	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749|ENST00000428693	T;T;T|.	0.08807|.	3.05;3.05;3.05|.	5.58|5.58	1.74|1.74	0.24563|0.24563	.|.	0.905217|.	0.09312|.	N|.	0.819490|.	T|T	0.45776|0.45776	0.1359|0.1359	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.18461|.	0.028|.	B|.	0.12837|.	0.008|.	T|T	0.25398|0.25398	-1.0133|-1.0133	9|5	.|.	.|.	.|.	-0.7948|-0.7948	3.6024|3.6024	0.08030|0.08030	0.2713:0.0:0.553:0.1756|0.2713:0.0:0.553:0.1756	.|.	1951|.	P53804|.	TTC3_HUMAN|.	T|Y	1951|242	ENSP00000347889:A1951T;ENSP00000381981:A1951T;ENSP00000346791:A1951T|.	.|.	A|C	+|+	1|2	0|0	TTC3|TTC3	37494403|37494403	0.258000|0.258000	0.24033|0.24033	0.448000|0.448000	0.26945|0.26945	0.031000|0.031000	0.12232|0.12232	0.312000|0.312000	0.19397|0.19397	0.303000|0.303000	0.22785|0.22785	-0.182000|-0.182000	0.12963|0.12963	GCA|TGC	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194776.1	Missense_Mutation	+	ENST00000399017.2	Splice_Site	SNP	21 : 38572533 - 38572533 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	278	31
UNC13A	23025	broad.mit.edu	37	19	17760372	17760372	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:17760372G>A	ENST00000519716.2	-	13	1463	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	UNC13A_ENST00000428389.2_Silent_p.I576I|UNC13A_ENST00000550896.1_Silent_p.I488I|UNC13A_ENST00000551649.1_Silent_p.I488I|UNC13A_ENST00000252773.7_Silent_p.I488I|UNC13A_ENST00000552293.1_Silent_p.I488I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	488					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.I488I(1)|p.I576I(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCATGCTGTCGATGATGATGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	kidney(2)											147	152	150			NA	NA	19		NA											NA				17760372		2107	4228	6335	SO:0001819	synonymous_variant			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477	23025	23025			23150	protein-coding gene	gene with protein product		609894			NA		Standard	XM_038604	NM_001080421	NA	Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1464C>T	19.37:g.17760372G>A		NA		37	CCDS46013.2																																																																																			UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376169.2		-	ENST00000519716.2	Silent	SNP	19 : 17760372 - 17760372 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	773	93
VAC14	55697	broad.mit.edu	37	16	70726807	70726807	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:70726807G>A	ENST00000536184.2	-	5	1428	c.399C>T	c.(397-399)ctC>ctT	p.L133L	VAC14_ENST00000261776.5_Silent_p.L701L			Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	701					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCAGGAGCATGAGCAGGCCGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4394		0,0,2197	50	50	50		2103	4.3	1	16		50	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	VAC14	NM_018052.3		0,1,6495	AA,AG,GG	NA	0.0116,0.0,0.0077		701/783	70726807	1,12991	2197	4299	6496	SO:0001819	synonymous_variant			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043	55697	55697			25507	protein-coding gene	gene with protein product		604632	Tax1 (human T-cell leukemia virus type I) binding protein 2	TAX1BP2	NA	15542851, 12719380	Standard	NM_018052	NM_018052	NA	Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000536184.2:c.399C>T	16.37:g.70726807G>A		NA	B3KPJ5|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	37																																																																																				VAC14-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434934.3		-	ENST00000536184.2	Silent	SNP	16 : 70726807 - 70726807 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	122	17
ZYG11B	79699	broad.mit.edu	37	1	53287249	53287249	+	Missense_Mutation	SNP	G	G	A	rs151077871		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:53287249G>A	ENST00000294353.6	+	14	2328	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	ZYG11B_ENST00000443756.2_Missense_Mutation_p.R658H	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	728							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CACATTGTGCGCCATGGGAGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	86	80	82		2183	5.5	1	1	dbSNP_134	82	0,8600		0,0,4300	no	missense	ZYG11B	NM_024646.2	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging	728/745	53287249	1,13005	2203	4300	6503	SO:0001583	missense			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378	79699	79699		ZYG11 cell cycle regulator family	25820	protein-coding gene	gene with protein product			zyg-11 homolog (C. elegans), zyg-11 homolog B (C. elegans)	ZYG11	NA	11214970	Standard	NM_024646	NM_024646	NA	Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.2183G>A	1.37:g.53287249G>A	ENSP00000294353:p.Arg728His	NA	Q8N2X3|Q9H8L8	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579177	0.65878	2.27E-4	0.0	ENSG00000162378	ENST00000443756;ENST00000294353	T	0.47177	0.85	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	L	0.51422	1.61	0.80722	D	1	P;B	0.39601	0.68;0.07	B;B	0.26094	0.066;0.019	T	0.35525	-0.9785	10	0.48119	T	0.1	.	12.6624	0.56822	0.0756:0.0:0.9244:0.0	.	658;728	B4DK95;Q9C0D3	.;ZY11B_HUMAN	H	658;728	ENSP00000294353:R728H	ENSP00000294353:R728H	R	+	2	0	ZYG11B	53059837	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.446000	0.66600	2.567000	0.86603	0.591000	0.81541	CGC	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024749.1		+	ENST00000294353.6	Missense_Mutation	SNP	1 : 53287249 - 53287249 A PAAD-TCGA-IB-7887-Tumor-SM-2NW7W	438	52
