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
ABHD8	79575	broad.mit.edu	37	19	17412369	17412369	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:17412369G>A	ENST00000247706.3	-	2	296	c.57C>T	c.(55-57)aaC>aaT	p.N19N	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	19							hydrolase activity	p.N19N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCCCCACGGCGTTGGGGGGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(156;1368 2543 15275 41187)							NA				1	Substitution - coding silent(1)	endometrium(1)											24	26	25			NA	NA	19		NA											NA				17412369		2175	4219	6394	SO:0001819	synonymous_variant			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220	79575	79575		Abhydrolase domain containing	23759	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024527	NM_024527	NA	Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.57C>T	19.37:g.17412369G>A		NA	Q9HAE9	37	CCDS12355.1																																																																																			ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462937.1		-	ENST00000247706.3	Silent	SNP	19 : 17412369 - 17412369 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	143	12
ABTB2	25841	broad.mit.edu	37	11	34218927	34218927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:34218927C>A	ENST00000435224.2	-	3	1613	c.1189G>T	c.(1189-1191)Gag>Tag	p.E397*	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Nonsense_Mutation_p.E211*	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	211							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCATGGACTCCATCTGTGGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	11		NA											NA				34218927		2202	4298	6500	SO:0001587	stop_gained			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016	25841	25841		BTB/POZ domain containing, Ankyrin repeat domain containing	23842	protein-coding gene	gene with protein product					NA		Standard	NM_145804	NM_145804	NA	Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1189G>T	11.37:g.34218927C>A	ENSP00000410157:p.Glu397*	NA		37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	43	10.292513	0.99377	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6082	19.6195	0.95650	0.0:1.0:0.0:0.0	.	.	.	.	X	397;211	.	ENSP00000298992:E211X	E	-	1	0	ABTB2	34175503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.633000	0.89246	0.561000	0.74099	GAG	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388703.3		-	ENST00000435224.2	Nonsense_Mutation	SNP	11 : 34218927 - 34218927 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	282	12
BAZ1B	9031	broad.mit.edu	37	7	72892025	72892025	+	Missense_Mutation	SNP	T	T	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:72892025T>G	ENST00000339594.4	-	7	2104	c.1766A>C	c.(1765-1767)aAc>aCc	p.N589T	BAZ1B_ENST00000404251.1_Missense_Mutation_p.N589T	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	589					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCTGGAAGGTTTTTGCCAGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(112;1167 1561 21085 43672 48228)							NA				0													151	165	160			NA	NA	7		NA											NA				72892025		2202	4299	6501	SO:0001583	missense			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954	9031	9031		Zinc fingers, PHD-type	961	protein-coding gene	gene with protein product	Williams-Beuren syndrome chromosome region 9, Williams-Beuren syndrome chromosome region 10, transcription factor WSTF	605681		WBSCR9, WBSCR10	NA	9858827, 9828126	Standard	NM_032408	NM_032408	NA	Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1766A>C	7.37:g.72892025T>G	ENSP00000342434:p.Asn589Thr	NA	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	5.695	0.312690	0.10789	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.57273	0.41;0.41	5.82	-6.38	0.01957	.	0.558505	0.22152	N	0.063904	T	0.32436	0.0829	L	0.40543	1.245	0.24006	N	0.996196	B	0.02656	0.0	B	0.01281	0.0	T	0.30736	-0.9968	10	0.14656	T	0.56	-6.4103	10.4288	0.44395	0.0:0.4925:0.284:0.2234	.	589	Q9UIG0	BAZ1B_HUMAN	T	589	ENSP00000342434:N589T;ENSP00000385442:N589T	ENSP00000342434:N589T	N	-	2	0	BAZ1B	72529961	0.003000	0.15002	0.412000	0.26496	0.974000	0.67602	-0.564000	0.05936	-1.088000	0.03077	0.533000	0.62120	AAC	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252123.4		-	ENST00000339594.4	Missense_Mutation	SNP	7 : 72892025 - 72892025 G PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	905	69
C9orf24	84688	broad.mit.edu	37	9	34381395	34381395	+	Silent	SNP	A	A	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:34381395A>T	ENST00000297623.2	-	4	642	c.444T>A	c.(442-444)ccT>ccA	p.P148P	C9orf24_ENST00000379127.1_Silent_p.P13P|C9orf24_ENST00000379124.1_Silent_p.P13P|C9orf24_ENST00000379133.3_Silent_p.P13P|C9orf24_ENST00000379126.3_Silent_p.P13P	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	148										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CCGGCCTAGGAGGGCATTCCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	129	137			NA	NA	9		NA											NA				34381395		2203	4300	6503	SO:0001819	synonymous_variant			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972	84688	84688			19919	protein-coding gene	gene with protein product	ciliated bronchial epithelium 1, spermatid-specific manchette-related protein 1				NA	12029067	Standard	NM_147169	NM_147168	NA	Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.444T>A	9.37:g.34381395A>T		NA	Q5T599|Q8N9G4|Q96KD1|Q96LN1	37	CCDS6554.1																																																																																			C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001098.3		-	ENST00000297623.2	Silent	SNP	9 : 34381395 - 34381395 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	442	32
CACTIN	58509	broad.mit.edu	37	19	3612314	3612314	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:3612314G>A	ENST00000429344.2	-	10	1936	c.1884C>T	c.(1882-1884)acC>acT	p.T628T	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Silent_p.T560T|CACTIN_ENST00000248420.5_Silent_p.T628T	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit	NA											NA						AGGCCTTGCCGGTGAGTGGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	42	39			NA	NA	19		NA											NA				3612314		2180	4271	6451	SO:0001819	synonymous_variant			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298	58509	58509			29938	protein-coding gene	gene with protein product	NY REN 24 antigen, functional spliceosome-associated protein c, cactin homolog (Drosophila)		chromosome 19 open reading frame 29	C19orf29	NA	8619474, 9110174, 21429463, 20829348	Standard		NM_001080543	NA	Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1884C>T	19.37:g.3612314G>A		NA		37	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	G	4.579	0.107594	0.08780	.	.	ENSG00000226800	ENST00000447295	.	.	.	4.02	-8.04	0.01110	.	.	.	.	.	T	0.26991	0.0661	.	.	.	0.46222	D	0.998933	.	.	.	.	.	.	T	0.22487	-1.0215	5	0.11182	T	0.66	.	4.2327	0.10611	0.1452:0.2882:0.4183:0.1483	.	.	.	.	S	196	.	ENSP00000412459:G196S	G	+	1	0	C19orf29OS	3563314	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-4.464000	0.00230	-1.413000	0.02027	-0.986000	0.02555	GGT	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457370.2		-	ENST00000429344.2	Silent	SNP	19 : 3612314 - 3612314 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	182	4
COL1A1	1277	broad.mit.edu	37	17	48273541	48273541	+	Missense_Mutation	SNP	C	C	T	rs72645356		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:48273541C>T	ENST00000225964.5	-	15	1095	c.977G>A	c.(976-978)gGt>gAt	p.G326D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	326	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGTAGCACCATCATTTCC	0.632		NA	T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0			GRCh37	CM070721	COL1A1	M	rs72645356						39	41	40			NA	NA	17		NA											NA				48273541		2203	4300	6503	SO:0001583	missense			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821	1277	1277		Collagens	2197	protein-coding gene	gene with protein product		120150			NA	3178743, 2857713	Standard		NM_000088	NA	Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.977G>A	17.37:g.48273541C>T	ENSP00000225964:p.Gly326Asp	NA	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334954	0.81801	.	.	ENSG00000108821	ENST00000225964	D	0.99619	-6.28	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.99130	4.44	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.96436	0.9323	10	0.87932	D	0	.	17.3045	0.87191	0.0:1.0:0.0:0.0	.	326	P02452	CO1A1_HUMAN	D	326	ENSP00000225964:G326D	ENSP00000225964:G326D	G	-	2	0	COL1A1	45628540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.737000	0.84957	2.382000	0.81193	0.650000	0.86243	GGT	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309036.2		-	ENST00000225964.5	Missense_Mutation	SNP	17 : 48273541 - 48273541 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	155	11
CPED1	79974	broad.mit.edu	37	7	120629686	120629686	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:120629686G>A	ENST00000310396.5	+	2	478	c.11G>A	c.(10-12)cGc>cAc	p.R4H	CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.R4H|CPED1_ENST00000340646.5_Missense_Mutation_p.R4H	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1	NA											NA						ATGGTCTGTCGCCCAGTGTTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	117	123			NA	NA	7		NA											NA				120629686		2203	4300	6503	SO:0001583	missense				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034	79974	79974			26159	protein-coding gene	gene with protein product			chromosome 7 open reading frame 58	C7orf58	NA	20056006	Standard	NM_024913	NM_024913	NA	Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.11G>A	7.37:g.120629686G>A	ENSP00000309772:p.Arg4His	NA		37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357487	0.61293	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.64	4.76	0.60689	.	0.072669	0.53938	D	0.000056	T	0.44664	0.1304	M	0.66939	2.045	0.36552	D	0.871923	B;B	0.32717	0.381;0.047	B;B	0.26202	0.067;0.01	T	0.57219	-0.7849	10	0.72032	D	0.01	.	11.906	0.52713	0.0798:0.0:0.9202:0.0	.	4;4	A4D0V7-2;A4D0V7	.;CG058_HUMAN	H	4	ENSP00000309772:R4H;ENSP00000398082:R4H;ENSP00000406122:R4H;ENSP00000345235:R4H	ENSP00000309772:R4H	R	+	2	0	C7orf58	120416922	1.000000	0.71417	0.878000	0.34440	0.969000	0.65631	4.420000	0.59841	1.396000	0.46663	0.655000	0.94253	CGC	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346959.1		+	ENST00000310396.5	Missense_Mutation	SNP	7 : 120629686 - 120629686 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	392	7
DEFB119	245932	broad.mit.edu	37	20	29965177	29965177	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr20:29965177C>T	ENST00000376321.3	-	2	246	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DEFB119_ENST00000339144.3_3'UTR|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	43					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAGGGCTGTTCGTTCTTTTTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	183	189			NA	NA	20		NA											NA				29965177		2203	4300	6503	SO:0001583	missense			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483	245932	245932		Defensins, beta	18099	protein-coding gene	gene with protein product			defensin, beta 120	DEFB120	NA	11854508	Standard	NM_153289	NM_153289	NA	Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.127G>A	20.37:g.29965177C>T	ENSP00000365499:p.Glu43Lys	NA	Q5GRG1|Q5JWP1|Q8N689	37	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596310	0.46318	.	.	ENSG00000180483	ENST00000376321	T	0.73575	-0.76	4.31	4.31	0.51392	.	.	.	.	.	D	0.84946	0.5585	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86218	0.1629	8	0.87932	D	0	.	12.5997	0.56491	0.0:1.0:0.0:0.0	.	43	Q8N690	DB119_HUMAN	K	43	ENSP00000365499:E43K	ENSP00000365499:E43K	E	-	1	0	DEFB119	29428838	0.471000	0.25862	0.184000	0.23157	0.007000	0.05969	1.525000	0.35953	2.678000	0.91216	0.655000	0.94253	GAA	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078514.1		-	ENST00000376321.3	Missense_Mutation	SNP	20 : 29965177 - 29965177 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	763	37
DNAH11	8701	broad.mit.edu	37	7	21628848	21628848	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:21628848G>A	ENST00000409508.3	+	12	2027	c.1996G>A	c.(1996-1998)Gct>Act	p.A666T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A666T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	666	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCTGATCACGCTTTAGTTTA	0.303		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	81	82			NA	NA	7		NA											NA				21628848		1814	4077	5891	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1996G>A	7.37:g.21628848G>A	ENSP00000475939:p.Ala666Thr	NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	G	4.091	0.014837	0.07959	.	.	ENSG00000105877	ENST00000328843	T	0.55413	0.52	5.58	3.79	0.43588	Dynein heavy chain, domain-1 (1);	0.823945	0.11127	N	0.596763	T	0.38612	0.1047	.	.	.	0.09310	N	0.999998	B	0.11235	0.004	B	0.04013	0.001	T	0.26815	-1.0092	9	0.41790	T	0.15	.	6.2505	0.20843	0.1557:0.0:0.6953:0.149	.	666	Q96DT5	DYH11_HUMAN	T	666	ENSP00000330671:A666T	ENSP00000330671:A666T	A	+	1	0	DNAH11	21595373	0.022000	0.18835	0.476000	0.27291	0.043000	0.13939	1.048000	0.30379	0.731000	0.32448	0.650000	0.86243	GCT	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6		+	ENST00000409508.3	Missense_Mutation	SNP	7 : 21628848 - 21628848 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	199	15
FAM49A	81553	broad.mit.edu	37	2	16745312	16745312	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:16745312C>T	ENST00000381323.3	-	5	463	c.243G>A	c.(241-243)gcG>gcA	p.A81A	FAM49A_ENST00000406434.1_Silent_p.A81A|FAM49A_ENST00000355549.2_Silent_p.A81A	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	81						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GAGGGCACACCGCATTCCAAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	118	121			NA	NA	2		NA											NA				16745312		2203	4300	6503	SO:0001819	synonymous_variant			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872	81553	81553			25373	protein-coding gene	gene with protein product					NA		Standard	NM_030797	NM_030797	NA	Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.243G>A	2.37:g.16745312C>T		NA		37	CCDS1688.1																																																																																			FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207203.2		-	ENST00000381323.3	Silent	SNP	2 : 16745312 - 16745312 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	253	12
FAT3	120114	broad.mit.edu	37	11	92577822	92577822	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:92577822G>A	ENST00000525166.1	+	18	10861	c.10839G>A	c.(10837-10839)gcG>gcA	p.A3613A	FAT3_ENST00000298047.6_Silent_p.A3763A|FAT3_ENST00000409404.2_Silent_p.A3763A|FAT3_ENST00000533797.1_Silent_p.A98A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3763	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCACGCGCTCATGACCT	0.532		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	98	98			NA	NA	11		NA											NA				92577822		2145	4242	6387	SO:0001819	synonymous_variant			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.10839G>A	11.37:g.92577822G>A		NA	B5MDB0|Q96AU6	37																																																																																				FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Silent	SNP	11 : 92577822 - 92577822 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	61	4
FBXL5	26234	broad.mit.edu	37	4	15627448	15627448	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr4:15627448A>G	ENST00000341285.3	-	9	1401	c.1277T>C	c.(1276-1278)aTt>aCt	p.I426T	FBXL5_ENST00000382358.4_Missense_Mutation_p.I300T|FBXL5_ENST00000412094.2_Missense_Mutation_p.I409T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	426					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGTTGAAGTAATTTTGCTTGT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	85	86			NA	NA	4		NA											NA				15627448		2203	4300	6503	SO:0001583	missense			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564	26234	26234		F-boxes / Leucine-rich repeats	13602	protein-coding gene	gene with protein product		605655			NA	10531035	Standard		NM_012161	NA	Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1277T>C	4.37:g.15627448A>G	ENSP00000344866:p.Ile426Thr	NA	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	37	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	A	0.449	-0.894587	0.02491	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.30182	1.57;1.57;1.54	5.92	-0.683	0.11335	.	0.891429	0.10025	N	0.725521	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32052	-0.9921	10	0.09338	T	0.73	-0.7497	0.2314	0.00180	0.2771:0.162:0.2613:0.2996	.	409;426	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	T	426;409;300	ENSP00000344866:I426T;ENSP00000408679:I409T;ENSP00000371795:I300T	ENSP00000344866:I426T	I	-	2	0	FBXL5	15236546	0.000000	0.05858	0.000000	0.03702	0.492000	0.33523	-0.249000	0.08842	-0.087000	0.12528	0.528000	0.53228	ATT	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214235.2		-	ENST00000341285.3	Missense_Mutation	SNP	4 : 15627448 - 15627448 G PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	405	38
FGGY	55277	broad.mit.edu	37	1	60106978	60106978	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:60106978G>A	ENST00000371218.4	+	12	1432	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	FGGY_ENST00000371210.1_Intron|FGGY_ENST00000303721.7_Intron|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	407					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TGTATATTCCGGCTTTGGCAG	0.368		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	4e-04	NA	NA	NA	5e-04	0.876	EXOME	NA	NA	5e-04	SNP								NA				0													93	88	90			NA	NA	1		NA											NA				60106978		1560	3582	5142	SO:0001819	synonymous_variant				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456	55277	55277			25610	protein-coding gene	gene with protein product		611370			NA	17671248	Standard	NM_001113411	NM_018291	NA	Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000371218.4:c.1248G>A	1.37:g.60106978G>A		NA	B1AK92|B1AK93|B2RDR8|D3DQ56|Q9HA63	37	CCDS44155.1																																																																																			FGGY-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023206.2		+	ENST00000371218.4	Silent	SNP	1 : 60106978 - 60106978 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	144	4
GRM7	2917	broad.mit.edu	37	3	7728108	7728108	+	Silent	SNP	A	A	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:7728108A>C	ENST00000486284.1	+	10	3037	c.2763A>C	c.(2761-2763)acA>acC	p.T921T	GRM7_ENST00000403881.1_Intron|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000389336.4_Intron|GRM7_ENST00000402647.2_Silent_p.T921T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	0					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCCCACCAACAGTATAGCTTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	67	67			NA	NA	3		NA											NA				7728108		2203	4298	6501	SO:0001819	synonymous_variant			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277	2917	2917		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4599	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 87	604101			NA	8288585, 8840028	Standard	NM_000844	NM_000844	NA	Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000486284.1:c.2763A>C	3.37:g.7728108A>C		NA	Q8NFS2|Q8NFS3|Q8NFS4	37																																																																																				GRM7-015	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000354360.1		+	ENST00000486284.1	Silent	SNP	3 : 7728108 - 7728108 C PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	831	48
HOOK3	84376	broad.mit.edu	37	8	42805542	42805542	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:42805542G>A	ENST00000307602.4	+	6	612	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	138	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTACATCCAAGCCATTATGAT	0.353		NA	T	RET	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													194	173	181			NA	NA	8		NA											NA				42805542		2203	4300	6503	SO:0001583	missense			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172	84376	84376			23576	protein-coding gene	gene with protein product		607825	hook homolog 3 (Drosophila)		NA	9927460	Standard	NM_032410	NM_032410	NA	Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.412G>A	8.37:g.42805542G>A	ENSP00000305699:p.Ala138Thr	NA	D3DSY8|Q8NBH0|Q9BY13	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487393	0.44249	.	.	ENSG00000168172	ENST00000307602	T	0.17370	2.28	5.7	5.7	0.88788	.	0.104415	0.64402	N	0.000006	T	0.06462	0.0166	N	0.02539	-0.55	0.40492	D	0.980557	B;B	0.18310	0.027;0.0	B;B	0.22880	0.042;0.003	T	0.40627	-0.9553	10	0.20046	T	0.44	-4.5861	7.4677	0.27330	0.1979:0.0:0.8021:0.0	.	138;138	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	T	138	ENSP00000305699:A138T	ENSP00000305699:A138T	A	+	1	0	HOOK3	42924699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.677000	0.91161	0.650000	0.86243	GCC	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383172.2		+	ENST00000307602.4	Missense_Mutation	SNP	8 : 42805542 - 42805542 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	594	12
HP1BP3	50809	broad.mit.edu	37	1	21071440	21071440	+	Silent	SNP	C	C	T	rs144814158		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:21071440C>T	ENST00000375003.2	-	9	2556	c.1056G>A	c.(1054-1056)acG>acA	p.T352T	HP1BP3_ENST00000312239.5_Silent_p.T504T			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	504	H15 3.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TCTTGGCAGGCGTTTTGGCCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	123	115	118		1512	-0.9	1	1	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HP1BP3	NM_016287.3		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		504/554	21071440	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483	50809	50809			24973	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_016287	NM_016287	NA	Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000375003.2:c.1056G>A	1.37:g.21071440C>T		NA	A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	37																																																																																				HP1BP3-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000007460.2		-	ENST00000375003.2	Silent	SNP	1 : 21071440 - 21071440 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	334	12
HPD	3242	broad.mit.edu	37	12	122292622	122292622	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:122292622G>A	ENST00000543163.1	-	8	729	c.284C>T	c.(283-285)gCt>gTt	p.A95V	HPD_ENST00000289004.4_Missense_Mutation_p.A134V	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	134					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CTGCAGCACAGCAAACTTCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	182	193			NA	NA	12		NA											NA				122292622		2203	4300	6503	SO:0001583	missense			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	3242	3242	1.13.11.27		5147	protein-coding gene	gene with protein product	glyoxalase domain containing 3	609695		PPD	NA		Standard	NM_002150	NM_001171993	NA	Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000543163.1:c.284C>T	12.37:g.122292622G>A	ENSP00000441677:p.Ala95Val	NA	A8K461|Q13234	37	CCDS53839.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665066	0.67700	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.65732	-0.17;-0.17	5.29	4.38	0.52667	.	0.301114	0.35151	N	0.003416	T	0.71702	0.3371	M	0.90425	3.115	0.80722	D	1	B	0.33280	0.405	B	0.37144	0.242	T	0.76599	-0.2900	10	0.87932	D	0	-7.5669	14.9723	0.71243	0.0:0.1435:0.8565:0.0	.	134	P32754	HPPD_HUMAN	V	134;131;95	ENSP00000289004:A134V;ENSP00000441677:A95V	ENSP00000289004:A134V	A	-	2	0	HPD	120777005	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	9.210000	0.95106	1.203000	0.43233	0.467000	0.42956	GCT	HPD-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402185.1		-	ENST00000543163.1	Missense_Mutation	SNP	12 : 122292622 - 122292622 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	528	7
IGF2	3481	broad.mit.edu	37	11	2154783	2154783	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:2154783G>A	ENST00000416167.2	-	3	1436	c.270C>T	c.(268-270)tcC>tcT	p.S90S	IGF2_ENST00000381392.1_Silent_p.S93S|IGF2_ENST00000381389.1_Silent_p.S90S|IGF2_ENST00000434045.2_Silent_p.S146S|IGF2_ENST00000418738.2_Silent_p.S90S|IGF2_ENST00000381406.4_Silent_p.S93S|IGF2_ENST00000300632.5_Silent_p.S90S|IGF2_ENST00000381395.1_Silent_p.S90S			P01344	IGF2_HUMAN	insulin-like growth factor 2	90	D.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTCCCTCTCGGACTTGGCGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									,,	0,4404		0,0,2202	46	40	42		270,270,438	2.2	1	11		42	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	IGF2	NM_000612.4,NM_001007139.4,NM_001127598.1	,,	0,1,6499	AA,AG,GG	NA	0.0116,0.0,0.0077	,,	90/181,90/181,146/237	2154783	1,12999	2202	4298	6500	SO:0001819	synonymous_variant			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244	3481	3481			5466	protein-coding gene	gene with protein product	somatomedin A	147470	chromosome 11 open reading frame 43	C11orf43	NA	2450353, 3167054	Standard	NM_000612	NM_000612	NA	Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.270C>T	11.37:g.2154783G>A		NA	B3KX48|B7WP08|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	37	CCDS7728.1																																																																																			IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026053.2		-	ENST00000416167.2	Silent	SNP	11 : 2154783 - 2154783 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	121	12
INS-IGF2	723961	broad.mit.edu	37	11	2182109	2182109	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:2182109G>A	ENST00000397270.1	-	2	151	c.93C>T	c.(91-93)tgC>tgT	p.C31C	INS_ENST00000381330.4_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000512523.1_Silent_p.C31C	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN	INS-IGF2 readthrough	31					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGTGTGAGCCGCACAGGTGTT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	52	52			NA	NA	11		NA											NA				2182109		2200	4299	6499	SO:0001819	synonymous_variant			DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965	723961	723961			33527	other	readthrough					NA	16531418	Standard	NM_001042376.2	NM_001042376	NA	Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.93C>T	11.37:g.2182109G>A		NA		37	CCDS41598.1																																																																																			INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388404.1		-	ENST00000397270.1	Silent	SNP	11 : 2182109 - 2182109 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	194	7
IPO5	3843	broad.mit.edu	37	13	98671972	98671972	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr13:98671972G>T	ENST00000261574.5	+	27	3208	c.3028G>T	c.(3028-3030)Gtc>Ttc	p.V1010F	IPO5_ENST00000539640.1_Missense_Mutation_p.V867F|IPO5_ENST00000490680.1_Missense_Mutation_p.V992F	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	992					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CGTTGAAGAGGTCCTTCCACA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	135	140			NA	NA	13		NA											NA				98671972		2203	4300	6503	SO:0001583	missense			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150	3843	3843		Importins	6402	protein-coding gene	gene with protein product		602008	karyopherin (importin) beta 3, RAN binding protein 5	KPNB3, RANBP5	NA	9114010, 9271386, 17005651	Standard	NM_002271	NM_002271	NA	Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000261574.5:c.3028G>T	13.37:g.98671972G>T	ENSP00000261574:p.Val1010Phe	NA	B4DZA0|O15257|Q5T578|Q86XC7	37	CCDS31999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.24|13.24	2.176764|2.176764	0.38413|0.38413	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.16073	.|2.39;2.39;2.39;2.37	5.95|5.95	1.82|1.82	0.25136|0.25136	.|.	.|0.289846	.|0.38959	.|N	.|0.001514	T|T	0.29321|0.29321	0.0730|0.0730	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999997|0.999997	.|P	.|0.36048	.|0.534	.|B	.|0.43916	.|0.436	T|T	0.17349|0.17349	-1.0372|-1.0372	5|10	.|0.87932	.|D	.|0	-19.4383|-19.4383	11.6613|11.6613	0.51347|0.51347	0.2788:0.0:0.7212:0.0|0.2788:0.0:0.7212:0.0	.|.	.|1010	.|O00410-3	.|.	S|F	993|1010;992;992;867	.|ENSP00000261574:V1010F;ENSP00000350219:V992F;ENSP00000418393:V992F;ENSP00000445126:V867F	.|ENSP00000261574:V1010F	R|V	+|+	3|1	2|0	IPO5|IPO5	97469973|97469973	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.547000|0.547000	0.35210|0.35210	2.700000|2.700000	0.47085|0.47085	0.426000|0.426000	0.26116|0.26116	-0.145000|-0.145000	0.13849|0.13849	AGG|GTC	IPO5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045533.2		+	ENST00000261574.5	Missense_Mutation	SNP	13 : 98671972 - 98671972 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	542	36
KCNH3	23416	broad.mit.edu	37	12	49950199	49950199	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:49950199T>C	ENST00000257981.6	+	13	2775	c.2515T>C	c.(2515-2517)Ttc>Ctc	p.F839L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	839					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCAGCCCAAGTTCTCTTTCCG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	107	108			NA	NA	12		NA											NA				49950199		2203	4300	6503	SO:0001583	missense			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519	23416	23416		Potassium channels, Voltage-gated ion channels / Potassium channels	6252	protein-coding gene	gene with protein product		604527			NA	10455180, 16382104	Standard	NM_012284	NM_012284	NA	Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2515T>C	12.37:g.49950199T>C	ENSP00000257981:p.Phe839Leu	NA	Q9UQ06	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	T	32	5.153821	0.94645	.	.	ENSG00000135519	ENST00000257981	D	0.99239	-5.61	6.04	6.04	0.98038	.	0.000000	0.49305	D	0.000159	D	0.97885	0.9305	N	0.08118	0	0.39148	D	0.962164	P	0.49447	0.924	P	0.57776	0.827	D	0.98971	1.0801	10	0.44086	T	0.13	.	12.9803	0.58559	0.0:0.0:0.0:1.0	.	839	Q9ULD8	KCNH3_HUMAN	L	839	ENSP00000257981:F839L	ENSP00000257981:F839L	F	+	1	0	KCNH3	48236466	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.896000	0.63222	2.317000	0.78254	0.460000	0.39030	TTC	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404571.2		+	ENST00000257981.6	Missense_Mutation	SNP	12 : 49950199 - 49950199 C PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	293	12
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	269	9
LRRC71	149499	broad.mit.edu	37	1	156897574	156897574	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:156897574G>A	ENST00000337428.7	+	8	1026	c.872G>A	c.(871-873)cGc>cAc	p.R291H	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	291										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GCCCACAACCGCATCCAGGAC	0.716		NA									OREG0013892	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													24	30	28			NA	NA	1		NA											NA				156897574		1970	4154	6124	SO:0001583	missense			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838	149499	149499			26556	protein-coding gene	gene with protein product			chromosome 1 open reading frame 92	C1orf92	NA	14702039	Standard	NM_144702	NM_144702	NA	Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.872G>A	1.37:g.156897574G>A	ENSP00000336661:p.Arg291His	1782	Q96M24	37	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452069	0.43531	.	.	ENSG00000160838	ENST00000337428	T	0.54279	0.58	4.48	3.55	0.40652	.	0.126973	0.36444	N	0.002599	T	0.16214	0.0390	N	0.21448	0.665	0.28290	N	0.923597	B;B	0.16603	0.008;0.018	B;B	0.09377	0.001;0.004	T	0.12293	-1.0553	10	0.27082	T	0.32	-12.9461	8.9158	0.35581	0.1089:0.0:0.8911:0.0	.	291;76	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	H	291	ENSP00000336661:R291H	ENSP00000336661:R291H	R	+	2	0	LRRC71	155164198	0.957000	0.32711	1.000000	0.80357	0.971000	0.66376	1.585000	0.36600	1.061000	0.40601	0.555000	0.69702	CGC	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098961.1		+	ENST00000337428.7	Missense_Mutation	SNP	1 : 156897574 - 156897574 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	184	5
MAZ	4150	broad.mit.edu	37	16	29819148	29819148	+	Splice_Site	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr16:29819148C>T	ENST00000219782.6	+	2	1148	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	MAZ_ENST00000563402.1_Intron|MAZ_ENST00000322945.6_Splice_Site_p.R348W|MAZ_ENST00000545521.1_Splice_Site_p.R325W|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000562337.1_Intron	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	348					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGCTTCTCCCGGTGTGCACG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(72;875 1167 15364 30899 37091)							NA				0													20	22	21			NA	NA	16		NA											NA				29819148		2035	4144	6179	SO:0001630	splice_region_variant			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495	4150	4150		Zinc fingers, C2H2-type	6914	protein-coding gene	gene with protein product		600999			NA	1567856, 1502157	Standard	NM_002383	NM_001276275	NA	Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000219782.6:c.1043+1C>T	16.37:g.29819148C>T		NA	A8QJL9|Q15703|Q99443	37	CCDS42144.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603964	0.66445	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.58210	3.17;3.17;0.35	2.69	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.64907	0.2641	L	0.60067	1.865	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.951;1.0	D;D;P;D	0.91635	0.996;0.999;0.818;0.998	T	0.64050	-0.6498	10	0.38643	T	0.18	-5.0701	11.6094	0.51052	0.0:1.0:0.0:0.0	.	325;113;348;348	C6G496;Q59GP8;P56270;G5E927	.;.;MAZ_HUMAN;.	W	325;348;348;123	ENSP00000443956:R325W;ENSP00000313362:R348W;ENSP00000219782:R348W	ENSP00000219782:R348W	R	+	1	2	MAZ	29726649	0.772000	0.28567	1.000000	0.80357	0.693000	0.40251	0.202000	0.17295	1.459000	0.47892	0.435000	0.28638	CGG	MAZ-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435539.1	Missense_Mutation	+	ENST00000219782.6	Splice_Site	SNP	16 : 29819148 - 29819148 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	223	18
METTL21C	196541	broad.mit.edu	37	13	103343178	103343178	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr13:103343178C>T	ENST00000267273.6	-	2	272	c.267G>A	c.(265-267)gcG>gcA	p.A89A		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	89							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GCCACACCACCGCTCCGTAAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	112	120			NA	NA	13		NA											NA				103343178		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780	196541	196541			33717	protein-coding gene	gene with protein product		615259	chromosome 13 open reading frame 39	C13orf39	NA		Standard	NM_001010977	NM_001010977	NA	Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.267G>A	13.37:g.103343178C>T		NA		37	CCDS32003.1																																																																																			METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045682.2		-	ENST00000267273.6	Silent	SNP	13 : 103343178 - 103343178 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	222	24
NLRP2	55655	broad.mit.edu	37	19	55501405	55501405	+	Silent	SNP	C	C	T	rs148932752		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:55501405C>T	ENST00000543010.1	+	9	2525	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	NLRP2_ENST00000391721.4_Silent_p.S770S|NLRP2_ENST00000538819.1_Silent_p.S770S|NLRP2_ENST00000427260.2_Silent_p.S771S|NLRP2_ENST00000263437.6_Silent_p.S791S|NLRP2_ENST00000448584.2_Silent_p.S794S|NLRP2_ENST00000537859.1_Silent_p.S772S|NLRP2_ENST00000339757.7_Silent_p.S772S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	794					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGTCTTGTTCCGCTACCACTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	112	99	103		2382,2316,2313,2382	-5	0	19	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,4,6499	TT,TC,CC	NA	0.0349,0.0227,0.0308	,,,	794/1063,772/1041,771/1040,794/1063	55501405	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556	55655	55655		Nucleotide-binding domain and leucine rich repeat containing	22948	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2	609364	NACHT, leucine rich repeat and PYD containing 2	NALP2	NA	12563287, 11270363	Standard	NM_017852	NM_001174081	NA	Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2382C>T	19.37:g.55501405C>T		NA	Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	37	CCDS12913.1																																																																																			NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396152.1		+	ENST00000543010.1	Silent	SNP	19 : 55501405 - 55501405 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	352	28
OR1L1	26737	broad.mit.edu	37	9	125424481	125424481	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:125424481A>G	ENST00000309623.1	+	1	487	c.487A>G	c.(487-489)Act>Gct	p.T163A	OR1L1_ENST00000373686.1_Missense_Mutation_p.T213A	NM_001005236.3	NP_001005236.3	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CATTCTTCTGACTAATCAGCT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													342	310	321			NA	NA	9		NA											NA				125424481		2203	4300	6503	SO:0001583	missense				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679	26737	26737		GPCR / Class A : Olfactory receptors	8213	protein-coding gene	gene with protein product				OR1L2	NA		Standard		NM_001005236	NA	Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000309623.1:c.487A>G	9.37:g.125424481A>G	ENSP00000310773:p.Thr163Ala	NA	Q5T7Z3|Q6IFN2	37	CCDS35127.2	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845296	0.32606	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.00241	8.46;8.46	3.26	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.31065	0.9	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.26467	-1.0102	9	0.62326	D	0.03	.	2.9697	0.05919	0.2427:0.2309:0.4172:0.1092	.	213	Q8NH94	OR1L1_HUMAN	A	213;163	ENSP00000362790:T213A;ENSP00000310773:T163A	ENSP00000310773:T163A	T	+	1	0	OR1L1	124464302	0.000000	0.05858	0.000000	0.03702	0.397000	0.30659	-1.740000	0.01839	-1.523000	0.01767	0.260000	0.18958	ACT	OR1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053949.1		+	ENST00000309623.1	Missense_Mutation	SNP	9 : 125424481 - 125424481 G PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	781	7
OR7G2	390882	broad.mit.edu	37	19	9213690	9213690	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:9213690G>A	ENST00000305456.2	-	1	292	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTTTGGGATCGTGGTTGTGCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(67;143 1448 28637 40648)							NA				0								G	MET/THR	0,4406		0,0,2203	148	139	142		293	3.2	0.5	19		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR7G2	NM_001005193.1	81	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	98/346	9213690	1,13005	2203	4300	6503	SO:0001583	missense				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923	390882	390882		GPCR / Class A : Olfactory receptors	8466	protein-coding gene	gene with protein product					NA		Standard		NM_001005193	NA	Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.293C>T	19.37:g.9213690G>A	ENSP00000303822:p.Thr98Met	NA	Q6IFJ4|Q96RA0	37	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	g	4.837	0.155672	0.09236	0.0	1.16E-4	ENSG00000170923	ENST00000305456	T	0.00882	5.58	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.201904	0.23891	N	0.043541	T	0.01870	0.0059	M	0.87900	2.915	0.09310	N	1	P	0.49961	0.93	B	0.39379	0.298	T	0.41288	-0.9517	10	0.62326	D	0.03	.	8.3321	0.32193	0.1159:0.0:0.8841:0.0	.	77	Q8NG99	OR7G2_HUMAN	M	98	ENSP00000303822:T98M	ENSP00000303822:T98M	T	-	2	0	OR7G2	9074690	0.000000	0.05858	0.524000	0.27887	0.008000	0.06430	-0.287000	0.08388	2.145000	0.66743	0.494000	0.49563	ACG	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448994.1		-	ENST00000305456.2	Missense_Mutation	SNP	19 : 9213690 - 9213690 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	483	27
PCDHA13	56136	broad.mit.edu	37	5	140347507	140347507	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140347507G>A	ENST00000409494.1	+	2	2455				PCDHA10_ENST00000506939.2_Intron|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.V386I|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031865.1	NP_114071.1			protocadherin alpha 13	NA										NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGTGGCCGTTCTCAGTGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(147;1739 1852 5500 27947 37288)							NA				0													87	77	80			NA	NA	5		NA											NA				140347507		2203	4300	6503	SO:0001627	intron_variant			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389	56136	56136		Cadherins / Protocadherins : Clustered	8667	other	complex locus constituent	KIAA0345-like 1, ortholog of mouse CNR5	606319		CNRS5	NA	10380929, 10662547	Standard	NM_018904	NM_018904	NA	Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000409494.1:c.2395-11027G>A	5.37:g.140347507G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	9.217	1.032404	0.19590	.	.	ENSG00000243232	ENST00000289269	T	0.52526	0.66	5.61	0.00759	0.14071	Cadherin (3);Cadherin-like (1);	0.648092	0.12765	N	0.441059	T	0.26557	0.0649	N	0.17922	0.545	0.09310	N	0.999999	P;B	0.38370	0.628;0.004	B;B	0.31686	0.134;0.003	T	0.10314	-1.0635	10	0.66056	D	0.02	.	7.6778	0.28497	0.0:0.4911:0.2225:0.2864	.	386;386	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	I	386	ENSP00000289269:V386I	ENSP00000289269:V386I	V	+	1	0	PCDHAC2	140327691	0.000000	0.05858	0.895000	0.35142	0.830000	0.47004	-0.096000	0.11059	0.046000	0.15833	-0.165000	0.13383	GTT	PCDHA13-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000251809.2		+	ENST00000409494.1	Intron	SNP	5 : 140347507 - 140347507 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	280	5
PCDHB2	56133	broad.mit.edu	37	5	140475695	140475695	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140475695G>A	ENST00000194155.4	+	1	1469	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	441	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACATAACCGTGCTGGTCTC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	140	144			NA	NA	5		NA											NA				140475695		2203	4300	6503	SO:0001583	missense			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852	56133	56133		Cadherins / Protocadherins : Clustered	8687	other	protocadherin		606328			NA	10380929	Standard	NM_018936	NM_018936	NA	Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1321G>A	5.37:g.140475695G>A	ENSP00000194155:p.Val441Met	NA	Q4KMU1	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	8.616	0.890258	0.17613	.	.	ENSG00000112852	ENST00000194155	T	0.72725	-0.68	5.11	0.835	0.18886	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85695	0.5756	H	0.98754	4.32	0.09310	N	1	D	0.71674	0.998	P	0.58660	0.843	T	0.73990	-0.3808	9	0.62326	D	0.03	.	3.5112	0.07709	0.1501:0.2337:0.4965:0.1196	.	441	Q9Y5E7	PCDB2_HUMAN	M	441	ENSP00000194155:V441M	ENSP00000194155:V441M	V	+	1	0	PCDHB2	140455879	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-0.396000	0.07278	0.173000	0.19788	0.650000	0.86243	GTG	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251801.2		+	ENST00000194155.4	Missense_Mutation	SNP	5 : 140475695 - 140475695 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	711	7
PCDHB3	56132	broad.mit.edu	37	5	140481822	140481822	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140481822G>A	ENST00000231130.2	+	1	1589	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.R530H(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGGGCGCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											59	63	62			NA	NA	5		NA											NA				140481822		2203	4300	6503	SO:0001583	missense			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205	56132	56132		Cadherins / Protocadherins : Clustered	8688	other	protocadherin		606329			NA	10380929	Standard	NM_018937	NM_018937	NA	Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1589G>A	5.37:g.140481822G>A	ENSP00000231130:p.Arg530His	NA	B2R8P2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058176	0.01950	.	.	ENSG00000113205	ENST00000231130	T	0.01767	4.65	4.14	1.03	0.20045	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01092	0.0036	N	0.11064	0.09	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.48854	-0.8998	9	0.15499	T	0.54	.	6.6896	0.23163	0.1992:0.224:0.5769:0.0	.	530	Q9Y5E6	PCDB3_HUMAN	H	530	ENSP00000231130:R530H	ENSP00000231130:R530H	R	+	2	0	PCDHB3	140462006	0.000000	0.05858	0.989000	0.46669	0.065000	0.16274	-0.362000	0.07602	0.834000	0.34852	0.650000	0.86243	CGC	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251817.2		+	ENST00000231130.2	Missense_Mutation	SNP	5 : 140481822 - 140481822 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	413	30
PDE4C	5143	broad.mit.edu	37	19	18331091	18331091	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:18331091G>A	ENST00000355502.3	-	11	1618	c.747C>T	c.(745-747)tcC>tcT	p.S249S	PDE4C_ENST00000594617.3_Silent_p.S249S|PDE4C_ENST00000598111.2_Silent_p.S19S|PDE4C_ENST00000594465.3_Silent_p.S249S|PDE4C_ENST00000539010.1_Silent_p.S18S|PDE4C_ENST00000597297.1_Silent_p.S19S|PDE4C_ENST00000447275.3_Silent_p.S143S|PDE4C_ENST00000262805.12_Silent_p.S217S|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	249					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGCTGGTTTCGGACAGGTGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	101	99			NA	NA	19		NA											NA				18331091		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	5143	5143	3.1.4.17	Phosphodiesterases	8782	protein-coding gene	gene with protein product	phosphodiesterase E1 dunce homolog (Drosophila)	600128	phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)	DPDE1	NA		Standard		NM_001098818	NA	Approved		uc002nik.4	Q08493		ENST00000355502.3:c.747C>T	19.37:g.18331091G>A		NA	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	37	CCDS12373.1																																																																																			PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466295.1		-	ENST00000355502.3	Silent	SNP	19 : 18331091 - 18331091 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	619	7
PIK3C2A	5286	broad.mit.edu	37	11	17156533	17156533	+	Silent	SNP	T	T	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:17156533T>C	ENST00000265970.7	-	10	1940	c.1941A>G	c.(1939-1941)caA>caG	p.Q647Q	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.Q267Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	647					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTGCAGTTAATTGGTTTATGC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	123	123			NA	NA	11		NA											NA				17156533		2200	4293	6493	SO:0001819	synonymous_variant			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	5286	5286	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	phosphoinositide-3-kinase, class 2, alpha polypeptide		NA	9337861	Standard	NM_002645	NM_002645	NA	Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1941A>G	11.37:g.17156533T>C		NA	B0LPH2|Q14CQ9	37	CCDS7824.1																																																																																			PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387553.1		-	ENST00000265970.7	Silent	SNP	11 : 17156533 - 17156533 C PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	516	33
PRDM16	63976	broad.mit.edu	37	1	3331138	3331138	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:3331138G>A	ENST00000270722.5	+	10	2667	c.2618G>A	c.(2617-2619)cGg>cAg	p.R873Q	PRDM16_ENST00000441472.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000378398.3_Missense_Mutation_p.R873Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.R873Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.R874Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.R873Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	873	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTAGAAAAGCGGAAGGTCACA	0.687		NA	T	EVI1	MDS, AML								G	1	5e-04	NA	0.0028	2184	NA	0.9992	,	,	NA	3e-04	NA	NA	NA	8e-04	0.5938	LOWCOV	NA	NA	0.0039	SNP			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													45	57	53			NA	NA	1		NA											NA				3331138		1953	4136	6089	SO:0001583	missense			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611	63976	63976		Zinc fingers, C2H2-type	14000	protein-coding gene	gene with protein product	MDS1/EVI1-like, PR-domain zinc finger protein 16, transcription factor MEL1	605557			NA	11050005	Standard	NM_022114	NM_199454	NA	Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2618G>A	1.37:g.3331138G>A	ENSP00000270722:p.Arg873Gln	NA	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	37	CCDS41236.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.594815	0.96602	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06608	3.35;3.32;3.33;3.33;3.37;3.32;3.39;3.34;3.28	4.94	4.94	0.65067	.	0.000000	0.46758	D	0.000277	T	0.23330	0.0564	M	0.64404	1.975	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.79108	0.992;0.955;0.965;0.903	T	0.00498	-1.1704	10	0.46703	T	0.11	.	18.1398	0.89636	0.0:0.0:1.0:0.0	.	873;873;872;872	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	874;873;872;872;873;873;873;689;689;681	ENSP00000426975:R874Q;ENSP00000367651:R873Q;ENSP00000407968:R872Q;ENSP00000405253:R872Q;ENSP00000367643:R873Q;ENSP00000421400:R873Q;ENSP00000270722:R873Q;ENSP00000422504:R689Q;ENSP00000425796:R681Q	ENSP00000270722:R873Q	R	+	2	0	PRDM16	3320998	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.341000	0.97041	2.281000	0.76405	0.511000	0.50034	CGG	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001382.3		+	ENST00000270722.5	Missense_Mutation	SNP	1 : 3331138 - 3331138 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	120	5
RASGEF1A	221002	broad.mit.edu	37	10	43701485	43701485	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:43701485C>T	ENST00000395809.1	-	2	2586	c.80G>A	c.(79-81)cGt>cAt	p.R27H	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R35H|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R27H			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	27					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.R27H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCCGCCTCCACGCTCCCCCAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											31	34	33			NA	NA	10		NA											NA				43701485		2202	4296	6498	SO:0001583	missense			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915	221002	221002			24246	protein-coding gene	gene with protein product		614531			NA	12477932	Standard	NM_145313	XM_005271808	NA	Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.80G>A	10.37:g.43701485C>T	ENSP00000379154:p.Arg27His	NA	Q8TBF1	37	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	c	15.65	2.896724	0.52121	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.71579	-0.56;-0.58;-0.58	5.49	3.63	0.41609	.	0.397928	0.18488	N	0.139733	T	0.54775	0.1879	N	0.22421	0.69	0.26555	N	0.973839	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.49606	-0.8922	10	0.45353	T	0.12	.	9.9083	0.41390	0.0:0.7883:0.0:0.2117	.	27;35	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	H	35;27;27	ENSP00000363583:R35H;ENSP00000379155:R27H;ENSP00000379154:R27H	ENSP00000363583:R35H	R	-	2	0	RASGEF1A	43021491	0.769000	0.28531	0.691000	0.30163	0.786000	0.44442	1.601000	0.36773	1.344000	0.45657	-0.119000	0.15052	CGT	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313989.1		-	ENST00000395809.1	Missense_Mutation	SNP	10 : 43701485 - 43701485 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	50	6
RASGEF1C	255426	broad.mit.edu	37	5	179548100	179548100	+	Missense_Mutation	SNP	A	A	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:179548100A>C	ENST00000393371.2	-	6	1060	c.764T>G	c.(763-765)tTc>tGc	p.F255C	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.F104C|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.F255C|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	255	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCTGTTGAACCATTTCAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	143	147			NA	NA	5		NA											NA				179548100		2203	4300	6503	SO:0001583	missense			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090	255426	255426			27400	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_175062	XM_006714839	NA	Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.764T>G	5.37:g.179548100A>C	ENSP00000377037:p.Phe255Cys	NA	D3DWQ7|Q7Z4T0|Q8NA49	37	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934399	0.52866	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.39787	1.06;1.06;1.06	3.64	3.64	0.41730	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.059111	0.64402	D	0.000002	T	0.62575	0.2439	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67745	-0.5591	10	0.87932	D	0	.	11.5493	0.50711	1.0:0.0:0.0:0.0	.	255	Q8N431	RGF1C_HUMAN	C	255;255;104	ENSP00000354963:F255C;ENSP00000377037:F255C;ENSP00000429114:F104C	ENSP00000354963:F255C	F	-	2	0	RASGEF1C	179480706	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	5.407000	0.66363	1.677000	0.50941	0.254000	0.18369	TTC	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253506.2		-	ENST00000393371.2	Missense_Mutation	SNP	5 : 179548100 - 179548100 C PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	370	21
REEP2	51308	broad.mit.edu	37	5	137777145	137777145	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:137777145C>T	ENST00000506158.1	+	3	359	c.63C>T	c.(61-63)ctC>ctT	p.L21L	REEP2_ENST00000254901.5_Silent_p.L59L|REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000378339.2_Silent_p.L59L			Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	59						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATATAGTGCTCTCCTGGTGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	96	104			NA	NA	5		NA											NA				137777145		2203	4300	6503	SO:0001819	synonymous_variant			AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563	51308	51308		Receptor accessory proteins	17975	protein-coding gene	gene with protein product		609347	chromosome 5 open reading frame 19	C5orf19	NA	16271481, 15550249, 24388663	Standard	NM_016606	NM_016606	NA	Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000506158.1:c.63C>T	5.37:g.137777145C>T		NA	Q53EM8|Q9NYF2	37		.	.	.	.	.	.	.	.	.	.	C	9.842	1.191368	0.21954	.	.	ENSG00000132563	ENST00000512126	.	.	.	4.01	-4.81	0.03180	.	.	.	.	.	T	0.50769	0.1635	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52426	-0.8577	4	.	.	.	-4.1558	8.4986	0.33144	0.0:0.2491:0.5241:0.2268	.	.	.	.	F	97	.	.	S	+	2	0	REEP2	137805044	0.915000	0.31059	0.934000	0.37439	0.986000	0.74619	-0.207000	0.09384	-0.560000	0.06102	0.455000	0.32223	TCT	REEP2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000373613.2		+	ENST00000506158.1	Silent	SNP	5 : 137777145 - 137777145 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	162	8
ROBO3	64221	broad.mit.edu	37	11	124743218	124743218	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:124743218G>A	ENST00000397801.1	+	10	1741	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S	ROBO3_ENST00000538940.1_Missense_Mutation_p.G495S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	517	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GATGGACATGGGCTTCTACAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	62	60			NA	NA	11		NA											NA				124743218		1969	4154	6123	SO:0001583	missense			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134	64221	64221		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13433	protein-coding gene	gene with protein product		608630	roundabout (axon guidance receptor, Drosophila) homolog 3, horizontal gaze palsy with progressive scoliosis	HGPPS	NA	15105459	Standard	XM_370663	NM_022370	NA	Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1549G>A	11.37:g.124743218G>A	ENSP00000380903:p.Gly517Ser	NA		37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186181	0.78789	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.60171	0.21;0.21	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.197564	0.25478	N	0.030400	D	0.84696	0.5529	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90158	0.4226	10	0.87932	D	0	.	16.9991	0.86377	0.0:0.0:1.0:0.0	.	517	Q96MS0	ROBO3_HUMAN	S	517;495	ENSP00000380903:G517S;ENSP00000441797:G495S	ENSP00000380903:G517S	G	+	1	0	ROBO3	124248428	1.000000	0.71417	0.107000	0.21349	0.762000	0.43233	8.485000	0.90448	2.548000	0.85928	0.455000	0.32223	GGC	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387091.1		+	ENST00000397801.1	Missense_Mutation	SNP	11 : 124743218 - 124743218 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	59	3
RTKN2	219790	broad.mit.edu	37	10	64005797	64005797	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:64005797T>C	ENST00000373789.3	-	3	373	c.277A>G	c.(277-279)Aaa>Gaa	p.K93E	RTKN2_ENST00000395265.1_Missense_Mutation_p.K93E|RTKN2_ENST00000395260.3_Missense_Mutation_p.K93E	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	93					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTCGTTCTTTACTTTCAAAT	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	97	96			NA	NA	10		NA											NA				64005797		2202	4296	6498	SO:0001583	missense			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010	219790	219790		Pleckstrin homology (PH) domain containing	19364	protein-coding gene	gene with protein product			pleckstrin homology domain containing, family K member 1	PLEKHK1	NA	15504364	Standard	NM_145307	NM_001282941	NA	Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.277A>G	10.37:g.64005797T>C	ENSP00000362894:p.Lys93Glu	NA	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	37	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	T	4.450	0.083293	0.08533	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.41758	1.6;1.6;0.99	5.38	1.67	0.24075	.	0.457220	0.27932	N	0.017279	T	0.28333	0.0700	L	0.48362	1.52	0.19300	N	0.999979	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.20042	-1.0287	10	0.13853	T	0.58	-0.4111	5.9418	0.19198	0.0:0.1462:0.1373:0.7165	.	93;93	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	E	93	ENSP00000378682:K93E;ENSP00000362894:K93E;ENSP00000378678:K93E	ENSP00000362894:K93E	K	-	1	0	RTKN2	63675803	0.949000	0.32298	0.294000	0.24946	0.859000	0.49053	1.602000	0.36783	0.337000	0.23665	0.528000	0.53228	AAA	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091618.1		-	ENST00000373789.3	Missense_Mutation	SNP	10 : 64005797 - 64005797 C PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	202	7
SAG	6295	broad.mit.edu	37	2	234229331	234229331	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:234229331C>T	ENST00000409110.1	+	5	467	c.237C>T	c.(235-237)atC>atT	p.I79I	SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	79					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TTGACGTGATCGGCTTGACCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	38	37			NA	NA	2		NA											NA				234229331		2111	4258	6369	SO:0001819	synonymous_variant				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561	6295	6295			10521	protein-coding gene	gene with protein product	arrestin 1	181031			NA	2249983	Standard	NM_000541	NM_000541	NA	Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.237C>T	2.37:g.234229331C>T		NA	Q53SV3|Q99858	37	CCDS46545.1																																																																																			SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330126.1		+	ENST00000409110.1	Silent	SNP	2 : 234229331 - 234229331 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	66	7
SCN4A	6329	broad.mit.edu	37	17	62045516	62045516	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:62045516G>A	ENST00000578147.1	-	6	979	c.903C>T	c.(901-903)taC>taT	p.Y301Y	SCN4A_ENST00000435607.1_Silent_p.Y301Y			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	301					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGTCATTGCCGTACCACGTGT	0.552		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8689	EXOME	NA	NA	0.0026	SNP								NA				0													289	283	285			NA	NA	17		NA											NA				62045516		2178	4279	6457	SO:0001819	synonymous_variant			U24693		17q23.3	2012-02-26	2007-01-23				6329	6329		Sodium channels, Voltage-gated ion channels / Sodium channels	10591	protein-coding gene	gene with protein product		603967		HYKPP	NA	1654742, 1659948, 16382098	Standard	NM_000334	XM_005257566	NA	Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000578147.1:c.903C>T	17.37:g.62045516G>A		NA	Q15478|Q16447|Q7Z6B1	37																																																																																				SCN4A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000444562.1		-	ENST00000578147.1	Silent	SNP	17 : 62045516 - 62045516 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	546	6
SIGLEC7	27036	broad.mit.edu	37	19	51647799	51647799	+	Silent	SNP	C	C	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:51647799C>G	ENST00000317643.6	+	2	639	c.570C>G	c.(568-570)tcC>tcG	p.S190S	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	190	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTCTGTGTCCCCCCTGCACC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	86	87			NA	NA	19		NA											NA				51647799		2203	4300	6503	SO:0001819	synonymous_variant			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995	27036	27036		Sialic acid binding Ig-like lectins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10876	protein-coding gene	gene with protein product		604410	sialic acid binding Ig-like lectin 19, pseudogene, sialic acid binding Ig-like lectin, pseudogene 2	SIGLEC19P, SIGLECP2	NA	10567377	Standard	NM_016543	NM_001277201	NA	Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.570C>G	19.37:g.51647799C>G		NA	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	37	CCDS12826.1																																																																																			SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464226.2		+	ENST00000317643.6	Silent	SNP	19 : 51647799 - 51647799 G PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	462	23
SOGA2	0	broad.mit.edu	37	18	8784265	8784265	+	Silent	SNP	C	C	T	rs139433913		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr18:8784265C>T	ENST00000517570.1	+	5	1337	c.1155C>T	c.(1153-1155)agC>agT	p.S385S	SOGA2_ENST00000306329.11_Silent_p.S745S|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Silent_p.S385S|SOGA2_ENST00000400050.3_Silent_p.S385S			Q9Y4B5	CC165_HUMAN		736											NA						CCCGGGACAGCGATGCCGAGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4402		0,0,2201	38	43	41		1155	-5.3	0.5	18	dbSNP_134	41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CCDC165	NM_015210.3		0,1,6499	TT,TC,CC	NA	0.0116,0.0,0.0077		385/1587	8784265	1,12999	2201	4299	6500	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000517570.1:c.1155C>T	18.37:g.8784265C>T		NA	E9PAY7|Q6ZMQ9|Q8IWA9	37																																																																																				SOGA2-003	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379400.2		+	ENST00000517570.1	Silent	SNP	18 : 8784265 - 8784265 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	159	5
SRPX2	27286	broad.mit.edu	37	X	99925874	99925874	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chrX:99925874C>T	ENST00000373004.3	+	11	1716	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	430					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGACCGAGACCGCTACATGGA	0.512		NA									OREG0019890	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													164	126	138			NA	NA	X		NA											NA				99925874		2203	4300	6503	SO:0001583	missense			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359	27286	27286			30668	protein-coding gene	gene with protein product		300642	sushi-repeat-containing protein, X-linked 2		NA	9864177	Standard	NM_014467	NM_014467	NA	Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1288C>T	X.37:g.99925874C>T	ENSP00000362095:p.Arg430Cys	1347	B3KQT3|Q8WW85	37	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590739	0.86851	.	.	ENSG00000102359	ENST00000373004	T	0.54071	0.59	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76756	-0.2842	9	.	.	.	-14.007	17.6638	0.88198	0.0:1.0:0.0:0.0	.	430	O60687	SRPX2_HUMAN	C	430	ENSP00000362095:R430C	.	R	+	1	0	SRPX2	99812530	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.063000	0.64332	2.357000	0.79964	0.523000	0.50628	CGC	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057486.1		+	ENST00000373004.3	Missense_Mutation	SNP	X : 99925874 - 99925874 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	153	24
ST8SIA5	29906	broad.mit.edu	37	18	44268880	44268880	+	Missense_Mutation	SNP	G	G	C	rs151163620		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr18:44268880G>C	ENST00000315087.7	-	4	974	c.314C>G	c.(313-315)tCt>tGt	p.S105C	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S141C|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S74C	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	105					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGACAGAGTAGACCTGCCAGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	81	85			NA	NA	18		NA											NA				44268880		2203	4300	6503	SO:0001583	missense			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638	29906	29906		Sialyltransferases	17827	protein-coding gene	gene with protein product	ST8Sia V	607162	sialyltransferase 8E (alpha-2, 8-polysialytransferase)	SIAT8E	NA	9199191	Standard	NM_013305	XM_005258250	NA	Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.314C>G	18.37:g.44268880G>C	ENSP00000321343:p.Ser105Cys	NA	Q6IAW7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120457	0.77323	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.48201	0.83;0.82;1.44	5.48	5.48	0.80851	.	0.108387	0.64402	D	0.000004	T	0.53867	0.1823	L	0.43152	1.355	0.50313	D	0.999867	P;P;P	0.52577	0.797;0.954;0.832	P;P;P	0.50440	0.641;0.57;0.625	T	0.56306	-0.8001	10	0.66056	D	0.02	.	19.345	0.94359	0.0:0.0:1.0:0.0	.	74;141;105	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	C	105;141;74	ENSP00000321343:S105C;ENSP00000445492:S141C;ENSP00000443683:S74C	ENSP00000321343:S105C	S	-	2	0	ST8SIA5	42522878	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.746000	0.74866	2.578000	0.87016	0.555000	0.69702	TCT	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255892.1		-	ENST00000315087.7	Missense_Mutation	SNP	18 : 44268880 - 44268880 C PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	169	6
TAL1	6886	broad.mit.edu	37	1	47685731	47685731	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:47685731C>T	ENST00000294339.3	-	4	1233	c.657G>A	c.(655-657)ccG>ccA	p.P219P	TAL1_ENST00000371884.2_Silent_p.P219P|TAL1_ENST00000371883.3_Silent_p.P221P|TAL1_ENST00000459729.1_5'UTR	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	219	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTTCTTGTCCGGGGGATGTG	0.587		NA	T	TRD@, SIL	lymphoblastic leukemia/biphasic									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0													65	63	64			NA	NA	1		NA											NA				47685731		2203	4300	6503	SO:0001819	synonymous_variant			M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367	6886	6886		Basic helix-loop-helix proteins	11556	protein-coding gene	gene with protein product		187040		TCL5	NA	2740341	Standard	NM_003189	NM_001287347	NA	Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.657G>A	1.37:g.47685731C>T		NA	D3DQ24	37	CCDS547.1																																																																																			TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021640.1		-	ENST00000294339.3	Silent	SNP	1 : 47685731 - 47685731 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	426	29
TGFBR1	7046	broad.mit.edu	37	9	101891209	101891209	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:101891209C>T	ENST00000374994.4	+	2	287	c.170C>T	c.(169-171)tCt>tTt	p.S57F	TGFBR1_ENST00000550253.1_5'UTR|TGFBR1_ENST00000374990.2_Missense_Mutation_p.S57F|TGFBR1_ENST00000552516.1_Missense_Mutation_p.S57F	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	57					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGCTTTGTCTCTGTCACAGAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	83	86			NA	NA	9		NA											NA				101891209		2203	4300	6503	SO:0001583	missense				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799	7046	7046			11772	protein-coding gene	gene with protein product	activin A receptor type II-like kinase, 53kDa	190181	transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD), multiple self-healing squamous epithelioma	MSSE, ESS1	NA	1319842, 8530052, 21358634	Standard		NM_001130916	NA	Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.170C>T	9.37:g.101891209C>T	ENSP00000364133:p.Ser57Phe	NA	Q6IR47|Q706C0|Q706C1	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508992	0.85282	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000546096;ENST00000546584	D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68	6.08	6.08	0.98989	TGF-beta receptor/activin receptor, type I/II (1);	0.334572	0.36002	N	0.002853	D	0.97012	0.9024	M	0.73430	2.235	0.80722	D	1	P;B	0.40794	0.729;0.057	B;B	0.41236	0.351;0.082	D	0.96884	0.9648	10	0.87932	D	0	.	14.3009	0.66352	0.1487:0.8513:0.0:0.0	.	57;57	P36897-3;P36897	.;TGFR1_HUMAN	F	57;57;57;57;42;54	ENSP00000364133:S57F;ENSP00000364129:S57F;ENSP00000447297:S57F;ENSP00000447707:S54F	ENSP00000364129:S57F	S	+	2	0	TGFBR1	100931030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.297000	0.65704	2.894000	0.99253	0.591000	0.81541	TCT	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053390.3		+	ENST00000374994.4	Missense_Mutation	SNP	9 : 101891209 - 101891209 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	583	47
TP53	7157	broad.mit.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:7577058C>A	ENST00000420246.2	-	8	1012	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	294	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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)		TGGTGAGGCTCCCCTTTCTTG	0.567		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	87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)											109	95	100			NA	NA	17		NA											NA				7577058		2203	4300	6503	SO:0001587	stop_gained	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.880G>T	17.37:g.7577058C>A	ENSP00000391127:p.Glu294*	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	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Nonsense_Mutation	SNP	17 : 7577058 - 7577058 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	197	20
TRAPPC10	7109	broad.mit.edu	37	21	45478983	45478983	+	Splice_Site	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr21:45478983G>A	ENST00000291574.4	+	6	853		c.e6-1		TRAPPC10_ENST00000380221.3_Splice_Site	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	NA					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGGGCGAATAGGAGGAGCTTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	62	64			NA	NA	21		NA											NA				45478983		2203	4300	6503	SO:0001630	splice_region_variant			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218	7109	7109		Trafficking protein particle complex	11868	protein-coding gene	gene with protein product	trafficking protein particle complex subunit 130, TRAPP 130 kDa subunit	602103	transmembrane protein 1	TMEM1	NA	7633421	Standard	NM_003274	NM_003274	NA	Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.679-1G>A	21.37:g.45478983G>A		NA	Q3MIR2|Q9UMD4|Q9Y4L3	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763268	0.69763	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8261	0.92119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRAPPC10	44303411	1.000000	0.71417	0.995000	0.50966	0.579000	0.36224	9.523000	0.98034	2.443000	0.82685	0.561000	0.74099	.	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195737.1	Intron	+	ENST00000291574.4	Splice_Site	SNP	21 : 45478983 - 45478983 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	328	16
VPS13C	54832	broad.mit.edu	37	15	62283987	62283987	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr15:62283987C>T	ENST00000261517.5	-	17	1441	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G|VPS13C_ENST00000249837.3_Silent_p.G413G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	456					protein localization			p.G456G(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAATTTTTGCCCAGACCGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	prostate(1)											125	131	129			NA	NA	15		NA											NA				62283987		2203	4300	6503	SO:0001819	synonymous_variant			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003	54832	54832			23594	protein-coding gene	gene with protein product		608879	vacuolar protein sorting 13C (yeast)		NA		Standard	NM_017684	NM_018080	NA	Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1368G>A	15.37:g.62283987C>T		NA	Q6ISR4|Q702P2|Q702P3|Q709C9|Q9NXN8|Q9P2C6	37	CCDS32257.1																																																																																			VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415997.1		-	ENST00000261517.5	Silent	SNP	15 : 62283987 - 62283987 T PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	503	6
ZFHX4	79776	broad.mit.edu	37	8	77767067	77767067	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:77767067A>G	ENST00000521891.2	+	10	8358	c.7910A>G	c.(7909-7911)cAt>cGt	p.H2637R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2611R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2592R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2592R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2592						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCTTGATCATATTGCCCGC	0.507		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	39			NA	NA	8		NA											NA				77767067		1856	4100	5956	SO:0001583	missense				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7910A>G	8.37:g.77767067A>G	ENSP00000430497:p.His2637Arg	NA	Q18PS0|Q6ZN20	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	8.874	0.950034	0.18431	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47093	U	0.000258	D	0.89291	0.6673	N	0.01473	-0.845	0.80722	D	1	P;B;B	0.34412	0.453;0.399;0.259	B;B;B	0.42827	0.128;0.078;0.399	D	0.89968	0.4091	10	0.40728	T	0.16	.	15.4359	0.75146	1.0:0.0:0.0:0.0	.	2592;2592;2637	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2637;2621;2592;2592;2611	ENSP00000430497:H2637R;ENSP00000399605:H2592R;ENSP00000050961:H2592R;ENSP00000430848:H2611R	ENSP00000050961:H2592R	H	+	2	0	ZFHX4	77929622	1.000000	0.71417	0.327000	0.25402	0.090000	0.18270	9.139000	0.94554	2.230000	0.72887	0.528000	0.53228	CAT	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Missense_Mutation	SNP	8 : 77767067 - 77767067 G PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	217	13
ZNF613	79898	broad.mit.edu	37	19	52448449	52448449	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:52448449G>A	ENST00000293471.6	+	6	1992	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.S402N	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGGCTTCAGCCAGAAGACA	0.443		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	19		NA											NA				52448449		2203	4300	6503	SO:0001583	missense			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08					79898	79898		Zinc fingers, C2H2-type, -	25827	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024840	NM_001031721	NA	Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1313G>A	19.37:g.52448449G>A	ENSP00000293471:p.Ser438Asn	NA	Q96SS9	37	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238490	0.58886	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.19394	2.15;2.15	3.36	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.331298	0.22091	N	0.064756	T	0.25901	0.0631	L	0.35854	1.095	0.20764	N	0.99985	D	0.63046	0.992	P	0.59288	0.855	T	0.03043	-1.1079	10	0.59425	D	0.04	.	6.1129	0.20110	0.1094:0.1914:0.6992:0.0	.	438	Q6PF04	ZN613_HUMAN	N	438;402;112	ENSP00000293471:S438N;ENSP00000375671:S402N	ENSP00000293471:S438N	S	+	2	0	ZNF613	57140261	0.000000	0.05858	0.970000	0.41538	0.981000	0.71138	-0.130000	0.10498	0.756000	0.33013	0.655000	0.94253	AGC	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461104.2		+	ENST00000293471.6	Missense_Mutation	SNP	19 : 52448449 - 52448449 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	396	31
ZPLD1	131368	broad.mit.edu	37	3	102196331	102196331	+	Missense_Mutation	SNP	G	G	A	rs79539385	by1000genomes	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:102196331G>A	ENST00000306176.1	+	11	1265	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	ZPLD1_ENST00000491959.1_Missense_Mutation_p.A373T|ZPLD1_ENST00000466937.1_Missense_Mutation_p.A373T	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	373						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CATCACCAGCGCACTGATATC	0.473		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	221	218	219		1165	5.1	0.8	3	dbSNP_131	219	0,8600		0,0,4300	no	missense	ZPLD1	NM_175056.1	58	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	389/432	102196331	1,13005	2203	4300	6503	SO:0001583	missense			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044	131368	131368			27022	protein-coding gene	gene with protein product		615915			NA	18632209	Standard	NM_175056	NM_175056	NA	Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000306176.1:c.1165G>A	3.37:g.102196331G>A	ENSP00000307801:p.Ala389Thr	NA	Q49AS1|Q8WU36	37	CCDS2947.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.42	3.619851	0.66787	2.27E-4	0.0	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.81330	-1.46;-1.48;-1.46	5.97	5.07	0.68467	.	0.196138	0.53938	D	0.000056	T	0.70928	0.3280	L	0.32530	0.975	0.58432	D	0.999995	P;B	0.39964	0.697;0.342	B;B	0.35073	0.195;0.041	T	0.69143	-0.5223	10	0.26408	T	0.33	-12.7547	16.2776	0.82654	0.0:0.0:0.8664:0.1336	.	389;373	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	T	373;389;373	ENSP00000420265:A373T;ENSP00000307801:A389T;ENSP00000418253:A373T	ENSP00000307801:A389T	A	+	1	0	ZPLD1	103679021	1.000000	0.71417	0.754000	0.31244	0.980000	0.70556	4.931000	0.63469	1.470000	0.48102	0.655000	0.94253	GCA	ZPLD1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354023.2		+	ENST00000306176.1	Missense_Mutation	SNP	3 : 102196331 - 102196331 A PAAD-TCGA-3E-AAAY-Tumor-SM-5W7VF	1144	50
