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
ADNP	23394	broad.mit.edu	37	20	49510730	49510730	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:49510730T>A	ENST00000396029.3	-	5	1088	c.521A>T	c.(520-522)gAt>gTt	p.D174V	ADNP_ENST00000396032.3_Missense_Mutation_p.D174V|ADNP_ENST00000371602.4_Missense_Mutation_p.D174V|ADNP_ENST00000349014.3_Missense_Mutation_p.D174V	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATAAAGAGGATCTCGGTAAGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	192	195			NA	NA	20		NA											NA				49510730		2203	4300	6503	SO:0001583	missense			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126	23394	23394		Homeoboxes / ZF class	15766	protein-coding gene	gene with protein product	ADNP homeobox 1	611386	activity-dependent neuroprotector		NA	9872452, 11013255	Standard	NM_181442	NM_015339	NA	Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.521A>T	20.37:g.49510730T>A	ENSP00000379346:p.Asp174Val	NA	E1P5Y2|O94881|Q5BKU2|Q9UG34	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.491473	0.64074	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82088	-0.0630	10	0.41790	T	0.15	-7.5506	16.27	0.82612	0.0:0.0:0.0:1.0	.	174	Q9H2P0	ADNP_HUMAN	V	174	ENSP00000360662:D174V;ENSP00000342905:D174V;ENSP00000379346:D174V;ENSP00000379349:D174V	ENSP00000342905:D174V	D	-	2	0	ADNP	48944137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.971000	0.70440	2.248000	0.74166	0.533000	0.62120	GAT	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079705.2		-	ENST00000396029.3	Missense_Mutation	SNP	20 : 49510730 - 49510730 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	986	306
CACNA1A	773	broad.mit.edu	37	19	13445253	13445253	+	Silent	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:13445253C>T	ENST00000360228.5	-	8	1136	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L	CACNA1A_ENST00000573710.2_Silent_p.L379L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	379					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGCCGCCTCAGCTTCAGAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	96	96			NA	NA	19		NA											NA				13445253		1889	4107	5996	SO:0001819	synonymous_variant			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1137G>A	19.37:g.13445253C>T		NA	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1																																																																																			CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Silent	SNP	19 : 13445253 - 13445253 T PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	471	148
CELSR3	1951	broad.mit.edu	37	3	48680455	48680455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:48680455G>A	ENST00000164024.4	-	29	8631	c.8351C>T	c.(8350-8352)cCa>cTa	p.P2784L	CELSR3_ENST00000544264.1_Missense_Mutation_p.P2789L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2784					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGACAGGCTGGCATCCAGGC	0.637		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	3		NA											NA				48680455		2203	4294	6497	SO:0001583	missense			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300	1951	1951		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3230	protein-coding gene	gene with protein product	flamingo homolog 1 (Drosophila)	604264	cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog	EGFL1	NA	9693030	Standard	NM_001407	NM_001407	NA	Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8351C>T	3.37:g.48680455G>A	ENSP00000164024:p.Pro2784Leu	NA	O75092	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364421	0.24684	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.35973	1.28;1.28	5.67	4.79	0.61399	.	.	.	.	.	T	0.08223	0.0205	N	0.00268	-1.735	0.39506	D	0.96828	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.33137	-0.9880	9	0.11485	T	0.65	.	6.3622	0.21435	0.192:0.0:0.808:0.0	.	2789;2784;2882	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	L	2784;2789	ENSP00000164024:P2784L;ENSP00000445694:P2789L	ENSP00000164024:P2784L	P	-	2	0	CELSR3	48655459	0.991000	0.36638	1.000000	0.80357	0.735000	0.41995	5.747000	0.68689	2.686000	0.91538	0.561000	0.74099	CCA	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257523.1		-	ENST00000164024.4	Missense_Mutation	SNP	3 : 48680455 - 48680455 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	369	122
CENPJ	55835	broad.mit.edu	37	13	25480645	25480645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:25480645C>A	ENST00000381884.4	-	7	1716	c.1531G>T	c.(1531-1533)Gat>Tat	p.D511Y	CENPJ_ENST00000545981.1_Missense_Mutation_p.D511Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	511					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAGCCAGTATCGCAAGGTTTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	13		NA											NA				25480645		2203	4300	6503	SO:0001583	missense			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849	55835	55835			17272	protein-coding gene	gene with protein product	centrosomal P4.1-associated protein	609279	microcephaly, primary autosomal recessive 6	MCPH6	NA	11003675, 22699936	Standard	NM_018451	NM_018451	NA	Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1531G>T	13.37:g.25480645C>A	ENSP00000371308:p.Asp511Tyr	NA	Q2KHM6|Q5T6R5|Q96KS5|Q9C067	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741708	0.30865	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.20598	2.06;2.06	5.93	5.09	0.68999	.	0.383824	0.26680	N	0.023049	T	0.40815	0.1132	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	P	0.60117	0.869	T	0.31998	-0.9923	10	0.72032	D	0.01	.	13.7989	0.63188	0.0:0.9259:0.0:0.0741	.	511	Q9HC77	CENPJ_HUMAN	Y	511	ENSP00000371308:D511Y;ENSP00000441090:D511Y	ENSP00000371308:D511Y	D	-	1	0	CENPJ	24378645	0.005000	0.15991	0.021000	0.16686	0.032000	0.12392	0.409000	0.21082	1.521000	0.48983	0.655000	0.94253	GAT	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044209.1		-	ENST00000381884.4	Missense_Mutation	SNP	13 : 25480645 - 25480645 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	643	208
FAM8A1	51439	broad.mit.edu	37	6	17605243	17605248	+	In_Frame_Del	DEL	TTAGTT	TTAGTT	-	rs143076391	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TTAGTT	TTAGTT	-	-	TTAGTT	TTAGTT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:17605243_17605248delTTAGTT	ENST00000259963.3	+	3	995_1000	c.940_945delTTAGTT	c.(940-945)ttagttdel	p.LV314del		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	314	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATACAGATTATTAGTTTGTTTCTATG	0.301		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414	51439	51439			16372	protein-coding gene	gene with protein product					NA	11707071	Standard		NM_016255	NA	Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.940_945delTTAGTT	6.37:g.17605243_17605248delTTAGTT	ENSP00000259963:p.Leu314_Val315del	NA	B2R725	37	CCDS4540.1																																																																																			FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039950.1		+	ENST00000259963.3	In_Frame_Del	DEL	6 : 17605243 - 17605248 - PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	324	72
FLRT2	23768	broad.mit.edu	37	14	86089482	86089482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr14:86089482C>A	ENST00000330753.4	+	2	2391	c.1624C>A	c.(1624-1626)Ctg>Atg	p.L542M	FLRT2_ENST00000554746.1_Missense_Mutation_p.L542M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	542					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCCCCCTTTCTGCTGGCGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	92	91			NA	NA	14		NA											NA				86089482		2203	4300	6503	SO:0001583	missense			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070	23768	23768		Fibronectin type III domain containing	3761	protein-coding gene	gene with protein product		604807			NA	10644439, 16872596	Standard		XM_005267490	NA	Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1624C>A	14.37:g.86089482C>A	ENSP00000332879:p.Leu542Met	NA	A0AV84|B7ZLP3	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613533	0.46631	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.59224	0.28;0.28	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.70448	0.3225	L	0.47716	1.5	0.52099	D	0.999943	D	0.76494	0.999	D	0.64042	0.921	T	0.63734	-0.6570	10	0.34782	T	0.22	-12.2962	20.8794	0.99867	0.0:1.0:0.0:0.0	.	542	O43155	FLRT2_HUMAN	M	542;542;195	ENSP00000332879:L542M;ENSP00000451050:L542M	ENSP00000332879:L542M	L	+	1	2	FLRT2	85159235	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.930000	0.56522	2.941000	0.99782	0.655000	0.94253	CTG	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413193.1		+	ENST00000330753.4	Missense_Mutation	SNP	14 : 86089482 - 86089482 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	785	251
GPR115	221393	broad.mit.edu	37	6	47682152	47682152	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:47682152A>T	ENST00000283303.2	+	6	1429	c.1171A>T	c.(1171-1173)Atg>Ttg	p.M391L	GPR115_ENST00000371220.1_Missense_Mutation_p.M448L|GPR115_ENST00000327753.3_Missense_Mutation_p.M391L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	391	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTCCATTCTCATGTCCTCCAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(22;431 510 9010 26644 32828)							NA				0													151	117	129			NA	NA	6		NA											NA				47682152		2203	4300	6503	SO:0001583	missense			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294	221393	221393		-, GPCR / Class B : Orphans	19011	protein-coding gene	gene with protein product		614268			NA	12435584	Standard	NM_153838	NM_153838	NA	Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1171A>T	6.37:g.47682152A>T	ENSP00000283303:p.Met391Leu	NA	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795404	0.70452	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.71579	-0.58;-0.58;-0.58	5.26	5.26	0.73747	GPS domain (2);	0.000000	0.85682	D	0.000000	D	0.85301	0.5665	M	0.92507	3.315	0.44611	D	0.997589	D	0.71674	0.998	D	0.85130	0.997	D	0.89126	0.3506	10	0.87932	D	0	-37.4673	14.6574	0.68844	1.0:0.0:0.0:0.0	.	391	Q8IZF3	GP115_HUMAN	L	448;391;391	ENSP00000360264:M448L;ENSP00000328319:M391L;ENSP00000283303:M391L	ENSP00000283303:M391L	M	+	1	0	GPR115	47790111	1.000000	0.71417	0.916000	0.36221	0.583000	0.36354	7.544000	0.82117	2.117000	0.64856	0.533000	0.62120	ATG	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040819.2		+	ENST00000283303.2	Missense_Mutation	SNP	6 : 47682152 - 47682152 T PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	276	91
IGFALS	3483	broad.mit.edu	37	16	1842049	1842049	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:1842049G>A	ENST00000568221.1	-	0	486				IGFALS_ENST00000415638.3_Silent_p.L162L|IGFALS_ENST00000215539.3_Silent_p.L124L			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	NA					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGTGGCACAGGTTCTCTAGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	19	19			NA	NA	16		NA											NA				1842049		2185	4295	6480	SO:0001624	3_prime_UTR_variant			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769	3483	3483			5468	protein-coding gene	gene with protein product		601489			NA	1379671, 16114275	Standard		NM_004970	NA	Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000568221.1:c.*6C>T	16.37:g.1842049G>A		NA		37																																																																																				IGFALS-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433578.1		-	ENST00000568221.1	3'UTR	SNP	16 : 1842049 - 1842049 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	65	32
KDM3B	51780	broad.mit.edu	37	5	137756544	137756544	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:137756544G>A	ENST00000314358.5	+	15	4065	c.3865G>A	c.(3865-3867)Gaa>Aaa	p.E1289K	KDM3B_ENST00000394866.1_Missense_Mutation_p.E945K|KDM3B_ENST00000542866.1_Missense_Mutation_p.E321K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1289					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAACAAAACCGAAGGGTCTAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	77			NA	NA	5		NA											NA				137756544		2203	4300	6503	SO:0001583	missense			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733	51780	51780		Chromatin-modifying enzymes / K-demethylases	1337	protein-coding gene	gene with protein product		609373	chromosome 5 open reading frame 7, jumonji domain containing 1B	C5orf7, JMJD1B	NA	15138608	Standard	NM_016604	NM_016604	NA	Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3865G>A	5.37:g.137756544G>A	ENSP00000326563:p.Glu1289Lys	NA	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	35	5.563185	0.96527	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.73047	-0.16;-0.71;-0.56	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.76575	0.988;0.702	T	0.78043	-0.2358	10	0.34782	T	0.22	-5.7754	19.6582	0.95853	0.0:0.0:1.0:0.0	.	945;1289	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	K	1289;1079;945;321	ENSP00000326563:E1289K;ENSP00000378335:E945K;ENSP00000439462:E321K	ENSP00000326563:E1289K	E	+	1	0	KDM3B	137784443	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	9.219000	0.95173	2.648000	0.89879	0.561000	0.74099	GAA	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373597.1		+	ENST00000314358.5	Missense_Mutation	SNP	5 : 137756544 - 137756544 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	354	10
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	113	20
LAMB2	3913	broad.mit.edu	37	3	49166233	49166233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:49166233C>T	ENST00000418109.1	-	15	1915	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R584H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	584	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R584H(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTCACCAGGCGCTCCACCAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											55	62	60			NA	NA	3		NA											NA				49166233		2203	4300	6503	SO:0001583	missense				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037	3913	3913		Laminins	6487	protein-coding gene	gene with protein product	laminin S	150325		LAMS	NA	2922051, 10393422	Standard	NM_002292	NM_002292	NA	Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1751G>A	3.37:g.49166233C>T	ENSP00000388325:p.Arg584His	NA	Q16321	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582871	0.96578	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.37058	1.22;1.22	5.04	5.04	0.67666	Laminin IV (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68334	-0.5436	10	0.49607	T	0.09	.	17.9928	0.89174	0.0:1.0:0.0:0.0	.	584	P55268	LAMB2_HUMAN	H	584	ENSP00000388325:R584H;ENSP00000307156:R584H	ENSP00000307156:R584H	R	-	2	0	LAMB2	49141237	0.997000	0.39634	0.992000	0.48379	0.778000	0.44026	3.609000	0.54117	2.348000	0.79779	0.561000	0.74099	CGC	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345939.1		-	ENST00000418109.1	Missense_Mutation	SNP	3 : 49166233 - 49166233 T PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	437	138
MYO9A	4649	broad.mit.edu	37	15	72208758	72208758	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:72208758G>C	ENST00000564571.1	-	19	2797	c.2638C>G	c.(2638-2640)Cat>Gat	p.H880D	MYO9A_ENST00000424560.1_Missense_Mutation_p.H880D|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.H861D|MYO9A_ENST00000566885.1_Missense_Mutation_p.H500D|MYO9A_ENST00000356056.5_Missense_Mutation_p.H880D			B2RTY4	MYO9A_HUMAN	myosin IXA	880					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTGTAAATGAAGAAGAGAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	105	104			NA	NA	15		NA											NA				72208758		2199	4297	6496	SO:0001583	missense			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.2638C>G	15.37:g.72208758G>C	ENSP00000456192:p.His880Asp	NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.	.	.	.	.	.	.	.	.	.	G	27.6	4.845130	0.91197	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71341	-0.56;-0.56;-0.56	5.24	5.24	0.73138	Myosin head, motor domain (1);	.	.	.	.	T	0.77844	0.4191	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.994	T	0.74228	-0.3733	9	0.30078	T	0.28	.	17.7426	0.88411	0.0:0.0:1.0:0.0	.	861;861;880	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	D	880;880;861;861	ENSP00000348349:H880D;ENSP00000399162:H880D;ENSP00000398250:H861D	ENSP00000261864:H861D	H	-	1	0	MYO9A	69995812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.112000	0.94314	2.709000	0.92574	0.655000	0.94253	CAT	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	Missense_Mutation	SNP	15 : 72208758 - 72208758 C PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	270	107
OPCML	4978	broad.mit.edu	37	11	132307162	132307162	+	Silent	SNP	G	G	A	rs143650226		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:132307162G>A	ENST00000331898.7	-	4	1196	c.618C>T	c.(616-618)aaC>aaT	p.N206N	OPCML_ENST00000524381.1_Silent_p.N199N|OPCML_ENST00000374778.4_Silent_p.N165N|OPCML_ENST00000541867.1_Silent_p.N206N|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	206	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCGACATCGTTCAACGCGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4402		0,0,2201	122	105	111		597,618	-6	0.6	11	dbSNP_134	111	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	,	199/339,206/346	132307162	1,12995	2201	4297	6498	SO:0001819	synonymous_variant			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715	4978	4978		Immunoglobulin superfamily / I-set domain containing	8143	protein-coding gene	gene with protein product	IgLON family member 1	600632	opioid-binding protein/cell adhesion molecule-like		NA	8244387	Standard	NM_001012393	XM_005271578	NA	Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.618C>T	11.37:g.132307162G>A		NA	Q17RN7	37	CCDS8492.1																																																																																			OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374689.3		-	ENST00000331898.7	Silent	SNP	11 : 132307162 - 132307162 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	396	131
PCDHA4	56144	broad.mit.edu	37	5	140188477	140188477	+	Missense_Mutation	SNP	C	C	T	rs13189658		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140188477C>T	ENST00000530339.1	+	1	1705	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHA4_ENST00000512229.2_Missense_Mutation_p.R569W|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R569W	NM_018907.2	NP_061730.1			protocadherin alpha 4	NA										breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGCGCCTCGGGCGGGTGG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	73	73			NA	NA	5		NA											NA				140188477		2203	4298	6501	SO:0001583	missense			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967	56144	56144		Cadherins / Protocadherins : Clustered	8670	other	complex locus constituent	ortholog of mouse CNR1, KIAA0345-like 10	606310			NA	10380929, 10662547	Standard	NM_018907	NM_018907	NA	Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1705C>T	5.37:g.140188477C>T	ENSP00000435300:p.Arg569Trp	NA		37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	1.484	-0.556544	0.03967	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.64085	-0.08;-0.08;-0.08	4.22	2.14	0.27477	Cadherin-like (1);	.	.	.	.	T	0.51686	0.1689	L	0.48877	1.53	0.09310	N	1	B;B;B	0.16166	0.016;0.004;0.003	B;B;B	0.13407	0.009;0.002;0.002	T	0.45338	-0.9268	9	0.46703	T	0.11	.	7.1916	0.25828	0.1772:0.4564:0.3664:0.0	rs13189658;rs13189658	569;569;569	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	W	569	ENSP00000423470:R569W;ENSP00000349344:R569W;ENSP00000435300:R569W	ENSP00000349344:R569W	R	+	1	2	PCDHA4	140168661	0.000000	0.05858	0.051000	0.19133	0.146000	0.21551	-0.186000	0.09670	0.874000	0.35823	0.585000	0.79938	CGG	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372864.2		+	ENST00000530339.1	Missense_Mutation	SNP	5 : 140188477 - 140188477 T PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	567	194
PCDHGB6	56100	broad.mit.edu	37	5	140788898	140788898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140788898G>A	ENST00000520790.1	+	1	1129	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			protocadherin gamma subfamily B, 6	NA										breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGATTTCGGAGGAAATGG	0.413		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	5		NA											NA				140788898		1858	4112	5970	SO:0001583	missense			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305	56100	56100		Cadherins / Protocadherins : Clustered	8713	other	protocadherin		606303			NA	10380929	Standard	NM_018926	NM_018926	NA	Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1129G>A	5.37:g.140788898G>A	ENSP00000428603:p.Gly377Arg	NA		37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	15.55	2.867883	0.51588	.	.	ENSG00000253305	ENST00000520790	T	0.27890	1.64	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58466	0.2124	M	0.92268	3.29	0.30036	N	0.813014	D;D	0.54964	0.969;0.962	P;P	0.51297	0.665;0.534	T	0.67991	-0.5527	9	0.72032	D	0.01	.	18.7185	0.91685	0.0:0.0:1.0:0.0	.	377;377	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	R	377	ENSP00000428603:G377R	ENSP00000428603:G377R	G	+	1	0	PCDHGB6	140769082	0.998000	0.40836	0.106000	0.21319	0.902000	0.53008	3.463000	0.53050	2.509000	0.84616	0.563000	0.77884	GGA	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374746.1		+	ENST00000520790.1	Missense_Mutation	SNP	5 : 140788898 - 140788898 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	242	58
PDZRN3	23024	broad.mit.edu	37	3	73438996	73438996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:73438996G>A	ENST00000479530.1	-	5	734	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120C|PDZRN3_ENST00000263666.4_Missense_Mutation_p.R463C|PDZRN3_ENST00000466348.1_5'UTR			Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	463							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTCGGATGCGCCCATCCTTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4406		0,0,2203	171	131	144		1387	5.4	1	3		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDZRN3	NM_015009.1	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	463/1067	73438996	1,13005	2203	4300	6503	SO:0001583	missense			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440	23024	23024		RING-type (C3HC4) zinc fingers	17704	protein-coding gene	gene with protein product	likely ortholog of mouse semaF cytoplasmic domain associated protein 3	609729			NA	10470851	Standard	XM_041363	XM_005264718	NA	Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000479530.1:c.538C>T	3.37:g.73438996G>A	ENSP00000418624:p.Arg180Cys	NA	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	37		.	.	.	.	.	.	.	.	.	.	G	23.7	4.443481	0.83993	0.0	1.16E-4	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	5.43	5.43	0.79202	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.86441	0.1767	10	0.87932	D	0	.	18.8532	0.92241	0.0:0.0:1.0:0.0	.	185;180;180;463	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	C	463;185;120;120;180;463;161	ENSP00000263666:R463C;ENSP00000442026:R185C;ENSP00000418168:R120C;ENSP00000418484:R120C;ENSP00000418624:R180C;ENSP00000419250:R161C	ENSP00000263666:R463C	R	-	1	0	PDZRN3	73521686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.496000	0.53288	2.547000	0.85894	0.655000	0.94253	CGC	PDZRN3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352465.1		-	ENST00000479530.1	Missense_Mutation	SNP	3 : 73438996 - 73438996 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	420	125
PRPS1	5631	broad.mit.edu	37	X	106890883	106890883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrX:106890883G>A	ENST00000372435.4	+	6	874	c.752G>A	c.(751-753)gGa>gAa	p.G251E	PRPS1_ENST00000372428.4_Missense_Mutation_p.G184E|PRPS1_ENST00000372418.1_Missense_Mutation_p.G151E|PRPS1_ENST00000543248.1_Missense_Mutation_p.G251E	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	251					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TTGACTCATGGAATCTTCTCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	134	141			NA	NA	X		NA											NA				106890883		2203	4300	6503	SO:0001583	missense			X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	5631	5631	2.7.6.1		9462	protein-coding gene	gene with protein product	PRS I, ribose-phosphate diphosphokinase 1	311850	deafness, X-linked 2, perceptive, congenital	DFN2	NA	1962753, 20021999	Standard		NM_002764	NA	Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.752G>A	X.37:g.106890883G>A	ENSP00000361512:p.Gly251Glu	NA	B1ALA8|D3DUX6|P09329	37	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953914	0.73902	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.94391	0.8196	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96295	0.9217	10	0.72032	D	0.01	.	14.6655	0.68904	0.0:0.0:1.0:0.0	.	251;251	Q53FW2;P60891	.;PRPS1_HUMAN	E	251;184;251;151	ENSP00000361512:G251E;ENSP00000361505:G184E;ENSP00000443185:G251E;ENSP00000361495:G151E	ENSP00000361495:G151E	G	+	2	0	PRPS1	106777539	1.000000	0.71417	0.941000	0.38009	0.678000	0.39670	9.145000	0.94634	2.118000	0.64928	0.600000	0.82982	GGA	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057840.1		+	ENST00000372435.4	Missense_Mutation	SNP	X : 106890883 - 106890883 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	727	42
SERPINB5	5268	broad.mit.edu	37	18	61156680	61156680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:61156680T>C	ENST00000382771.4	+	4	699	c.407T>C	c.(406-408)aTt>aCt	p.I136T	SERPINB5_ENST00000489441.1_Missense_Mutation_p.I136T	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	136					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AACAACTCAATTAAGGATCTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	113	115			NA	NA	18		NA											NA				61156680		2203	4300	6503	SO:0001583	missense			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075	5268	5268		Serine (or cysteine) peptidase inhibitors	8949	protein-coding gene	gene with protein product	protease inhibitor 5 (maspin)	154790	serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5	PI5	NA	8290962, 7724531, 16720730, 24172014	Standard	NM_002639	NM_002639	NA	Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.407T>C	18.37:g.61156680T>C	ENSP00000372221:p.Ile136Thr	NA	B2R6Y4|Q6N0B4|Q8WW89	37	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383613	0.61845	.	.	ENSG00000206075	ENST00000382771	D	0.85088	-1.94	5.75	5.75	0.90469	Serpin domain (3);	0.290065	0.34411	N	0.003991	D	0.87657	0.6232	M	0.72894	2.215	0.42662	D	0.993484	P;P	0.39847	0.531;0.691	B;P	0.44921	0.349;0.464	D	0.89171	0.3537	10	0.87932	D	0	.	16.0154	0.80434	0.0:0.0:0.0:1.0	.	136;136	P36952;P36952-2	SPB5_HUMAN;.	T	136	ENSP00000372221:I136T	ENSP00000372221:I136T	I	+	2	0	SERPINB5	59307660	1.000000	0.71417	0.944000	0.38274	0.984000	0.73092	5.559000	0.67326	2.323000	0.78572	0.533000	0.62120	ATT	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280629.1		+	ENST00000382771.4	Missense_Mutation	SNP	18 : 61156680 - 61156680 C PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	201	101
SLCO1B3	28234	broad.mit.edu	37	12	21011409	21011409	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:21011409G>C	ENST00000381545.3	+	5	482	c.263G>C	c.(262-264)gGa>gCa	p.G88A	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G88A|LST3_ENST00000540229.1_Missense_Mutation_p.G88A|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G88A|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G88A|LST3_ENST00000381541.3_Missense_Mutation_p.G88A	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	88					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGTTACTTTGGATCTAAACTA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	154	160			NA	NA	12		NA											NA				21011409		2202	4299	6501	SO:0001583	missense				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700	28234	28234		Solute carriers	10961	protein-coding gene	gene with protein product		605495	solute carrier family 21 (organic anion transporter), member 8	SLC21A8	NA		Standard	NM_019844	NM_019844	NA	Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.263G>C	12.37:g.21011409G>C	ENSP00000370956:p.Gly88Ala	NA		37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186375	0.78789	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	3.99	3.99	0.46301	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.93016	3.37	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.83866	0.0271	10	0.87932	D	0	.	16.4451	0.83925	0.0:0.0:1.0:0.0	.	88;88;88	F5H094;Q5JAR4;Q9NPD5	.;.;SO1B3_HUMAN	A	88	ENSP00000442000:G88A;ENSP00000261196:G88A;ENSP00000370956:G88A;ENSP00000451758:G88A;ENSP00000370952:G88A;ENSP00000441269:G88A;ENSP00000452013:G88A	ENSP00000370952:G88A	G	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20902676	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.314000	0.96306	1.926000	0.55796	0.460000	0.39030	GGA	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401936.1		+	ENST00000381545.3	Missense_Mutation	SNP	12 : 21011409 - 21011409 C PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	247	11
SLCO1C1	53919	broad.mit.edu	37	12	20854386	20854386	+	Silent	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:20854386T>C	ENST00000266509.2	+	3	632	c.264T>C	c.(262-264)ttT>ttC	p.F88F	SLCO1C1_ENST00000545604.1_Silent_p.F88F|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Silent_p.F88F|SLCO1C1_ENST00000381552.1_Silent_p.F88F	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	88					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATGGTAGTTTTGAAATTGGTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	115	119			NA	NA	12		NA											NA				20854386		2203	4299	6502	SO:0001819	synonymous_variant			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155	53919	53919		Solute carriers	13819	protein-coding gene	gene with protein product		613389	solute carrier family 21 (organic anion transporter), member 14	SLC21A14	NA		Standard	NM_017435	NM_017435	NA	Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.264T>C	12.37:g.20854386T>C		NA		37	CCDS8683.1																																																																																			SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401765.1		+	ENST00000266509.2	Silent	SNP	12 : 20854386 - 20854386 C PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	569	205
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:48575671C>G	ENST00000588745.1	+	3	431	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000342988.3_Nonsense_Mutation_p.S144*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR			Q13485	SMAD4_HUMAN	SMAD family member 4	144					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				45	Whole gene deletion(36)|Substitution - Nonsense(5)|Unknown(4)	pancreas(26)|lung(4)|breast(4)|large_intestine(3)|stomach(3)|upper_aerodigestive_tract(2)|skin(1)|oesophagus(1)|NS(1)											182	163	169			NA	NA	18		NA											NA				48575671		2202	4298	6500	SO:0001587	stop_gained			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.431C>G	18.37:g.48575671C>G	ENSP00000464901:p.Ser144*	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.517242	0.99193	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.1014	0.93275	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000341551:S144X	S	+	2	0	SMAD4	46829669	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.885000	0.63142	2.810000	0.96702	0.585000	0.79938	TCA	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Nonsense_Mutation	SNP	18 : 48575671 - 48575671 G PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	102	39
SOD2	6648	broad.mit.edu	37	6	160174521	160174521	+	Missense_Mutation	SNP	G	G	A	rs112093927		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:160174521G>A	ENST00000546087.1	-	2	1493				WTAP_ENST00000358372.4_Missense_Mutation_p.C161Y			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	NA					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		ATGGCGAAGTGTCGAATGCTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	119	121			NA	NA	6		NA											NA				160174521		2203	4300	6503	SO:0001627	intron_variant			M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	6648	6648	1.15.1.1		11180	protein-coding gene	gene with protein product		147460			NA		Standard	NM_000636	NM_000636	NA	Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000546087.1:c.335-4813C>T	6.37:g.160174521G>A		NA	B2R7R1|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	37		.	.	.	.	.	.	.	.	.	.	G	27.6	4.842459	0.91197	.	.	ENSG00000146457	ENST00000358372	T	0.49720	0.77	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.86028	2.79	0.80722	D	1	B;B	0.18166	0.026;0.008	B;B	0.22601	0.04;0.009	T	0.47142	-0.9140	10	0.52906	T	0.07	0.0359	15.9972	0.80260	0.065:0.0:0.935:0.0	.	161;161	A8K489;Q15007	.;FL2D_HUMAN	Y	161	ENSP00000351141:C161Y	ENSP00000351141:C161Y	C	+	2	0	WTAP	160094511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.986000	0.88173	2.941000	0.99782	0.655000	0.94253	TGT	SOD2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399943.1		-	ENST00000546087.1	Intron	SNP	6 : 160174521 - 160174521 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	133	97
SPARC	6678	broad.mit.edu	37	5	151045924	151045924	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:151045924G>A	ENST00000231061.4	-	8	1045	c.732C>T	c.(730-732)gaC>gaT	p.D244D		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	244					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.D244D(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GGTCTTACCCGTCAATGGGGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											77	72	74			NA	NA	5		NA											NA				151045924		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140	6678	6678			11219	protein-coding gene	gene with protein product	cysteine-rich protein, osteonectin	182120		ON	NA	2838412, 3410046	Standard	NM_003118	NM_003118	NA	Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.732C>T	5.37:g.151045924G>A		NA	D3DQH9|Q6IBK4	37	CCDS4318.1																																																																																			SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252430.1		-	ENST00000231061.4	Silent	SNP	5 : 151045924 - 151045924 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	346	73
SPTBN4	57731	broad.mit.edu	37	19	41063285	41063285	+	Silent	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:41063285T>C	ENST00000352632.3	+	26	5732	c.5646T>C	c.(5644-5646)caT>caC	p.H1882H	SPTBN4_ENST00000338932.3_Silent_p.H1882H|SPTBN4_ENST00000595535.1_Silent_p.H1882H|SPTBN4_ENST00000392025.1_Silent_p.H625H|SPTBN4_ENST00000392023.1_Silent_p.H558H|SPTBN4_ENST00000598249.1_Silent_p.H1882H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1882					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTTTGAGCATGACCTGCAGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460	57731	57731		Pleckstrin homology (PH) domain containing	14896	protein-coding gene	gene with protein product		606214			NA	11086001	Standard		NM_020971	NA	Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5646T>C	19.37:g.41063285T>C		NA	Q9H1K7|Q9H1K8|Q9H1K9|Q9H3G8|Q9HCD0	37	CCDS12559.1																																																																																			SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462559.2		+	ENST00000352632.3	Silent	SNP	19 : 41063285 - 41063285 C PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	480	152
SYNJ2	8871	broad.mit.edu	37	6	158490618	158490618	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:158490618C>G	ENST00000355585.4	+	14	1928	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	SYNJ2_ENST00000367121.3_Missense_Mutation_p.S618C|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S618C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	618							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATCTCACGCTCTCATAGATAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	149	157			NA	NA	6		NA											NA				158490618		2203	4300	6503	SO:0001583	missense			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269	8871	8871			11504	protein-coding gene	gene with protein product		609410			NA		Standard		NM_003898	NA	Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1853C>G	6.37:g.158490618C>G	ENSP00000347792:p.Ser618Cys	NA	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567503	0.86439	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	T;T;T	0.80738	-1.41;-1.41;-1.41	5.45	5.45	0.79879	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.221665	0.32372	N	0.006187	D	0.86251	0.5888	M	0.82433	2.59	0.80722	D	1	D;P	0.61080	0.989;0.915	D;P	0.62955	0.909;0.792	T	0.79617	-0.1729	10	0.87932	D	0	.	19.3673	0.94469	0.0:1.0:0.0:0.0	.	618;618	O15056;O15056-3	SYNJ2_HUMAN;.	C	618	ENSP00000356089:S618C;ENSP00000356088:S618C;ENSP00000347792:S618C	ENSP00000347792:S618C	S	+	2	0	SYNJ2	158410606	1.000000	0.71417	0.383000	0.26132	0.987000	0.75469	4.966000	0.63715	-2.744000	0.00378	-0.298000	0.09462	TCT	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042858.2		+	ENST00000355585.4	Missense_Mutation	SNP	6 : 158490618 - 158490618 G PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	168	81
TACC2	10579	broad.mit.edu	37	10	123844650	123844650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr10:123844650G>A	ENST00000369005.1	+	4	2975	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M	TACC2_ENST00000515603.1_Missense_Mutation_p.V879M|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.V879M|TACC2_ENST00000453444.2_Missense_Mutation_p.V879M|TACC2_ENST00000334433.3_Missense_Mutation_p.V879M|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	879						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCATGTACCTGTGGAACCTCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	88			NA	NA	10		NA											NA				123844650		2203	4300	6503	SO:0001583	missense			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162	10579	10579			11523	protein-coding gene	gene with protein product		605302			NA	14767476	Standard		XM_005269388	NA	Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2635G>A	10.37:g.123844650G>A	ENSP00000358001:p.Val879Met	NA	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759507	0.49468	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03181	4.04;4.02;4.02;4.04;4.02	5.8	-2.53	0.06326	.	2.125170	0.02510	N	0.091432	T	0.03739	0.0106	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26318	0.146;0.146;0.146	B;B;B	0.24974	0.057;0.057;0.057	T	0.45775	-0.9238	10	0.72032	D	0.01	0.0434	6.166	0.20390	0.3965:0.2437:0.3598:0.0	.	879;879;879	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	M	879;879;879;879;879;869	ENSP00000358001:V879M;ENSP00000424467:V879M;ENSP00000427618:V879M;ENSP00000334280:V879M;ENSP00000395048:V879M	ENSP00000334280:V879M	V	+	1	0	TACC2	123834640	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.237000	0.08990	-0.136000	0.11475	0.549000	0.68633	GTG	TACC2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090004.1		+	ENST00000369005.1	Missense_Mutation	SNP	10 : 123844650 - 123844650 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	331	99
TMEM199	147007	broad.mit.edu	37	17	26696428	26696428	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:26696428T>C	ENST00000509083.1	+	5	555				VTN_ENST00000226218.4_Missense_Mutation_p.D184G|VTN_ENST00000536498.1_5'UTR|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA			Q8N511	TM199_HUMAN	transmembrane protein 199	NA						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGCCTTTTCGTCCAGTTCATA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	77	82			NA	NA	17		NA											NA				26696428		2203	4300	6503	SO:0001627	intron_variant			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045	147007	147007			18085	protein-coding gene	gene with protein product			chromosome 17 open reading frame 32	C17orf32	NA		Standard	NM_152464	NM_152464	NA	Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000509083.1:c.531+8558T>C	17.37:g.26696428T>C		NA		37		.	.	.	.	.	.	.	.	.	.	T	23.3	4.403826	0.83230	.	.	ENSG00000255604	ENST00000226218	T	0.03689	3.84	5.79	5.79	0.91817	Hemopexin/matrixin (2);	0.042633	0.85682	D	0.000000	T	0.19406	0.0466	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00153	-1.1982	10	0.59425	D	0.04	-27.9352	16.1189	0.81329	0.0:0.0:0.0:1.0	.	184	P04004	VTNC_HUMAN	G	184	ENSP00000226218:D184G	ENSP00000226218:D184G	D	-	2	0	AC002094.1	23720555	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.649000	0.83500	2.208000	0.71279	0.459000	0.35465	GAC	TMEM199-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			+	ENST00000509083.1	Intron	SNP	17 : 26696428 - 26696428 C PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	293	8
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; 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.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GAAGCCCAGACGGAAACCGTA	0.612		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	71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM984590	TP53	M	rs11540654						63	60	61			NA	NA	17		NA											NA				7579358		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.329G>T	17.37:g.7579358C>A	ENSP00000391127:p.Arg110Leu	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	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7579358 - 7579358 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	313	133
TRIM73	375593	broad.mit.edu	37	7	75028266	75028266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:75028266C>T	ENST00000430211.1	+	2	122	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	TRIM73_ENST00000323819.3_Missense_Mutation_p.P17S|TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000447409.2_Missense_Mutation_p.P17S|TRIM73_ENST00000437796.1_Missense_Mutation_p.P17S|TRIM73_ENST00000463766.1_3'UTR			Q86UV6	TRI74_HUMAN	tripartite motif containing 73	17						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCTTCAGTGTCCCATCTGCCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	142	144			NA	NA	7		NA											NA				75028266		2203	4300	6503	SO:0001583	missense			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809	NA	375593		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	18162	protein-coding gene	gene with protein product		612549	tripartite motif-containing 50B, tripartite motif-containing 73	TRIM50B	NA		Standard		NM_198924	NA	Approved		uc003udc.1	Q86UV7		ENST00000430211.1:c.49C>T	7.37:g.75028266C>T	ENSP00000410121:p.Pro17Ser	NA	B7WP46	37		.	.	.	.	.	.	.	.	.	.	C	15.67	2.901498	0.52227	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	2.31	2.31	0.28768	Zinc finger, RING/FYVE/PHD-type (2);Zinc finger, RING-type (4);Zinc finger, C3HC4 RING-type (2);	0.000000	0.64402	D	0.000009	D	0.90242	0.6949	L	0.38838	1.175	0.30113	N	0.806419	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86223	0.1632	10	0.56958	D	0.05	.	12.185	0.54234	0.0:1.0:0.0:0.0	.	17;17	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	S	17	ENSP00000318615:P17S;ENSP00000410121:P17S;ENSP00000407135:P17S;ENSP00000417040:P17S	ENSP00000318615:P17S	P	+	1	0	TRIM73	74866202	0.993000	0.37304	0.999000	0.59377	0.694000	0.40290	1.866000	0.39489	1.612000	0.50221	0.400000	0.26472	CCC	TRIM73-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000343914.1		+	ENST00000430211.1	Missense_Mutation	SNP	7 : 75028266 - 75028266 T PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	477	106
UGGT2	55757	broad.mit.edu	37	13	96651510	96651510	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:96651510T>C	ENST00000376747.3	-	6	782	c.712A>G	c.(712-714)Att>Gtt	p.I238V	UGGT2_ENST00000376714.3_Missense_Mutation_p.I238V|UGGT2_ENST00000397618.3_Missense_Mutation_p.I238V|UGGT2_ENST00000376712.4_Missense_Mutation_p.I238V|UGGT2_ENST00000467305.1_5'UTR	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	238					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTACTCTTAATTGCTAGCTCC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	168	170			NA	NA	13		NA											NA				96651510		2203	4300	6503	SO:0001583	missense			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595	55757	55757			15664	protein-coding gene	gene with protein product	UDP-glucose:glycoprotein glucosyltransferase 2	605898	UDP-glucose ceramide glucosyltransferase-like 2	UGCGL2	NA	10694380	Standard	NM_020121	NM_020121	NA	Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.712A>G	13.37:g.96651510T>C	ENSP00000365938:p.Ile238Val	NA	Q08AD0|Q5JQR8|Q9UFC4	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995825	0.54147	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.37584	2.84;1.19	5.12	5.12	0.69794	.	0.097816	0.64402	D	0.000002	T	0.47857	0.1468	M	0.77712	2.385	0.50313	D	0.999861	P;P;P	0.42010	0.681;0.681;0.768	B;B;P	0.45232	0.442;0.442;0.474	T	0.55798	-0.8084	10	0.87932	D	0	-18.197	14.246	0.65988	0.0:0.0:0.0:1.0	.	238;238;238	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	V	238	ENSP00000365938:I238V;ENSP00000380743:I238V	ENSP00000365902:I238V	I	-	1	0	UGGT2	95449511	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.186000	0.65082	2.071000	0.62044	0.397000	0.26171	ATT	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045507.1		-	ENST00000376747.3	Missense_Mutation	SNP	13 : 96651510 - 96651510 C PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	651	202
ULK4	54986	broad.mit.edu	37	3	41795926	41795926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:41795926C>T	ENST00000301831.4	-	22	2710	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	750							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAGGCTTTTGCTCTAATGCAT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	95			NA	NA	3		NA											NA				41795926		1831	4088	5919	SO:0001583	missense			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038	54986	54986			15784	protein-coding gene	gene with protein product			unc-51-like kinase 4 (C. elegans)		NA	12477932	Standard	XM_929989	NM_017886	NA	Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2248G>A	3.37:g.41795926C>T	ENSP00000301831:p.Ala750Thr	NA	A6NF15|Q8IW79|Q9NWV6|Q9UF96	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821567	0.71028	.	.	ENSG00000168038	ENST00000301831	T	0.65178	-0.14	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (2);	0.064020	0.64402	U	0.000010	T	0.76133	0.3945	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78321	-0.2249	10	0.87932	D	0	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	750	Q96C45	ULK4_HUMAN	T	750	ENSP00000301831:A750T	ENSP00000301831:A750T	A	-	1	0	ULK4	41770930	1.000000	0.71417	0.998000	0.56505	0.359000	0.29487	5.711000	0.68400	2.466000	0.83321	0.591000	0.81541	GCA	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343490.1		-	ENST00000301831.4	Missense_Mutation	SNP	3 : 41795926 - 41795926 T PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	328	10
VPS29	51699	broad.mit.edu	37	12	110933972	110933972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:110933972G>A	ENST00000549970.1	-	0	189				VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.R18W|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000549578.1_Missense_Mutation_p.R14W|VPS29_ENST00000546588.1_Missense_Mutation_p.R46W			Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	NA					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTGTTGCACCGGTGTGGGATG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	106	110			NA	NA	12		NA											NA				110933972		1877	4108	5985	SO:0001623	5_prime_UTR_variant			AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237	51699	51699			14340	protein-coding gene	gene with protein product		606932	vacuolar protein sorting 29 (yeast homolog), vacuolar protein sorting 29 (yeast)		NA	11062004	Standard		NM_001282151	NA	Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549970.1:c.-246C>T	12.37:g.110933972G>A		NA	Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.801141|4.801141	0.90538|0.90538	.|.	.|.	ENSG00000111237|ENSG00000111237	ENST00000360579|ENST00000549578;ENST00000397678;ENST00000546588	.|T;T	.|0.19250	.|2.16;2.16	5.91|5.91	4.09|4.09	0.47781|0.47781	.|Calcineurin-like phosphoesterase superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57695|0.57695	0.2071|0.2071	H|H	0.96015|0.96015	3.755|3.755	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.995;0.99	T|T	0.69068|0.69068	-0.5243|-0.5243	5|10	.|0.87932	.|D	.|0	-7.1853|-7.1853	11.8427|11.8427	0.52364|0.52364	0.0657:0.1233:0.811:0.0|0.0657:0.1233:0.811:0.0	.|.	.|14;18	.|Q9UBQ0;Q9UBQ0-2	.|VPS29_HUMAN;.	L|W	30|14;18;46	.|ENSP00000447058:R14W;ENSP00000449044:R46W	.|ENSP00000380795:R18W	P|R	-|-	2|1	0|2	VPS29|VPS29	109418355|109418355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.756000|9.756000	0.98918|0.98918	0.837000|0.837000	0.34925|0.34925	0.655000|0.655000	0.94253|0.94253	CCG|CGG	VPS29-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404628.1		-	ENST00000549970.1	5'UTR	SNP	12 : 110933972 - 110933972 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	308	114
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr22:46327243C>T	ENST00000409496.3	-	3	794	c.317G>A	c.(316-318)cGt>cAt	p.R106H	WNT7B_ENST00000339464.4_Missense_Mutation_p.R102H|WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H			P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	102					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	22		NA											NA				46327243		2201	4298	6499	SO:0001583	missense			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064	7477	7477		Wingless-type MMTV integration sites, Endogenous ligands	12787	protein-coding gene	gene with protein product		601967			NA	8168088, 9284940, 11562755	Standard	NM_058238	NM_058238	NA	Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000409496.3:c.317G>A	22.37:g.46327243C>T	ENSP00000386546:p.Arg106His	NA	B8A596|Q96Q12	37		.	.	.	.	.	.	.	.	.	.	c	20.9	4.061673	0.76187	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	D	0.91536	0.7327	H	0.95982	3.75	0.51767	D	0.99993	D;D	0.63880	0.977;0.993	P;P	0.62491	0.839;0.903	D	0.94130	0.7387	10	0.87932	D	0	.	13.8568	0.63531	0.0:1.0:0.0:0.0	.	106;102	A8K0G1;P56706	.;WNT7B_HUMAN	H	102;86;106;102;35	ENSP00000341032:R102H;ENSP00000386781:R86H;ENSP00000386546:R106H;ENSP00000387217:R102H;ENSP00000392750:R35H	ENSP00000341032:R102H	R	-	2	0	WNT7B	44705907	1.000000	0.71417	0.860000	0.33809	0.904000	0.53231	4.484000	0.60271	1.709000	0.51313	0.461000	0.40582	CGT	WNT7B-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000336420.1		-	ENST00000409496.3	Missense_Mutation	SNP	22 : 46327243 - 46327243 T PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	128	62
ZNF513	130557	broad.mit.edu	37	2	27601875	27601875	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:27601875G>A	ENST00000323703.6	-	3	456	c.258C>T	c.(256-258)gaC>gaT	p.D86D	ZNF513_ENST00000407879.1_Silent_p.D24D	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	86	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGACTCATCGTCGCTCAGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	21	20			NA	NA	2		NA											NA				27601875		2072	4068	6140	SO:0001819	synonymous_variant			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795	130557	130557		Zinc fingers, C2H2-type	26498	protein-coding gene	gene with protein product		613598			NA	12477932	Standard	NM_144631	NM_001201459	NA	Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.258C>T	2.37:g.27601875G>A		NA	A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	37	CCDS1751.1																																																																																			ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215026.2		-	ENST00000323703.6	Silent	SNP	2 : 27601875 - 27601875 A PAAD-TCGA-IB-7644-Tumor-SM-2NW7P	254	14
