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
ADAMTS4	9507	broad.mit.edu	37	1	161166457	161166457	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:161166457G>A	ENST00000367996.5	-	2	1275	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.P283S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	NA	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCAGCACTGGGCCCCACTTGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	72	70			NA	NA	1		NA											NA				161166457		2203	4300	6503	SO:0001583	missense			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859	9507	9507		ADAM metallopeptidases with thrombospondin type 1 motif	220	protein-coding gene	gene with protein product		603876	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4		NA	10094461	Standard	NM_005099	NM_005099	NA	Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.847C>T	1.37:g.161166457G>A	ENSP00000356975:p.Pro283Ser	NA	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	1.536	-0.543024	0.04053	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	D;D	0.85556	-2.0;-2.0	5.02	4.1	0.47936	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.197780	0.34932	N	0.003569	T	0.53674	0.1811	N	0.11789	0.175	0.39026	D	0.959836	B;B	0.17667	0.014;0.023	B;B	0.16722	0.005;0.016	T	0.50988	-0.8762	10	0.17369	T	0.5	.	9.3761	0.38283	0.1728:0.0:0.8272:0.0	.	283;283	Q5VTW1;O75173	.;ATS4_HUMAN	S	283	ENSP00000356975:P283S;ENSP00000356974:P283S	ENSP00000356974:P283S	P	-	1	0	ADAMTS4	159433081	0.000000	0.05858	0.959000	0.39883	0.998000	0.95712	-0.310000	0.08135	1.350000	0.45770	0.555000	0.69702	CCC	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083066.2		-	ENST00000367996.5	Missense_Mutation	SNP	1 : 161166457 - 161166457 A PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	603	49
ANKRD44	91526	broad.mit.edu	37	2	197954726	197954726	+	Silent	SNP	A	A	G			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr2:197954726A>G	ENST00000328737.2	-	11	1132	c.1056T>C	c.(1054-1056)caT>caC	p.H352H	ANKRD44_ENST00000539527.1_Silent_p.H305H|ANKRD44_ENST00000450567.1_Silent_p.H352H|ANKRD44_ENST00000409153.1_Silent_p.H377H|ANKRD44_ENST00000337207.5_Silent_p.H352H|ANKRD44_ENST00000282272.8_Silent_p.H369H			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	377							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGGCAGCTAAATGTAAAGGGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	110	115			NA	NA	2		NA											NA				197954726		2203	4300	6503	SO:0001819	synonymous_variant			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413	91526	91526		Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing	25259	protein-coding gene	gene with protein product	protein phosphatase 6 ankyrin repeat subunit B				NA		Standard	NM_153697	NM_153697	NA	Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1056T>C	2.37:g.197954726A>G		NA	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	37																																																																																				ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000335113.1		-	ENST00000328737.2	Silent	SNP	2 : 197954726 - 197954726 G PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	437	18
ARHGEF10L	55160	broad.mit.edu	37	1	18023723	18023723	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:18023723G>A	ENST00000361221.3	+	29	3847	c.3688G>A	c.(3688-3690)Gcc>Acc	p.A1230T	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A933T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A1003T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A1191T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A1191T|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1230					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGCCCGCGACGCCCACCGCAA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	25	25			NA	NA	1		NA											NA				18023723		2189	4258	6447	SO:0001583	missense			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964	55160	55160		Rho guanine nucleotide exchange factors	25540	protein-coding gene	gene with protein product	GrinchGEF	612494			NA	10997877, 16112081	Standard	NM_018125	XM_005245923	NA	Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3688G>A	1.37:g.18023723G>A	ENSP00000355060:p.Ala1230Thr	NA	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	37	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293646	0.80914	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.61510	0.35;0.39;0.39;0.1;2.37	5.0	3.13	0.36017	.	0.166885	0.39544	N	0.001340	T	0.64929	0.2643	L	0.52364	1.645	0.39278	D	0.964508	P;D;P;D;D;D	0.89917	0.669;0.979;0.669;0.999;1.0;1.0	B;B;B;P;D;D	0.71870	0.115;0.389;0.115;0.847;0.975;0.961	T	0.61898	-0.6968	10	0.33141	T	0.24	-14.259	8.6006	0.33742	0.1809:0.0:0.8191:0.0	.	1003;933;991;1186;1191;1230	Q5VXI4;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	T	1230;1191;1191;1003;933	ENSP00000355060:A1230T;ENSP00000399401:A1191T;ENSP00000364564:A1191T;ENSP00000364557:A1003T;ENSP00000167825:A933T	ENSP00000167825:A933T	A	+	1	0	ARHGEF10L	17896310	0.538000	0.26394	0.984000	0.44739	0.967000	0.64934	1.279000	0.33191	0.507000	0.28148	-0.136000	0.14681	GCC	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007147.1		+	ENST00000361221.3	Missense_Mutation	SNP	1 : 18023723 - 18023723 A PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	290	19
ATXN3L	92552	broad.mit.edu	37	X	13337260	13337260	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chrX:13337260T>C	ENST00000380622.2	-	1	1258	c.794A>G	c.(793-795)gAt>gGt	p.D265G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	265					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CTTTGGAAGATCTTGCGATGT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													345	294	310			NA	NA	X		NA											NA				13337260		1568	3582	5150	SO:0001583	missense				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594	92552	92552			24173	protein-coding gene	gene with protein product		300920			NA		Standard	NM_001135995	NM_001135995	NA	Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.794A>G	X.37:g.13337260T>C	ENSP00000369996:p.Asp265Gly	NA	B2RNY8	37	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	t	7.958	0.746349	0.15710	.	.	ENSG00000123594	ENST00000380622	T	0.70869	-0.52	0.793	0.793	0.18632	.	0.520162	0.22506	N	0.059168	T	0.52484	0.1737	L	0.29908	0.895	0.22017	N	0.99941	P	0.41313	0.745	B	0.38880	0.284	T	0.49390	-0.8945	10	0.72032	D	0.01	.	5.5756	0.17220	0.0:0.0:0.0:1.0	.	265	Q9H3M9	ATX3L_HUMAN	G	265	ENSP00000369996:D265G	ENSP00000369996:D265G	D	-	2	0	ATXN3L	13247181	0.112000	0.22096	0.277000	0.24703	0.064000	0.16182	0.777000	0.26718	0.549000	0.28973	0.341000	0.21757	GAT	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055785.2		-	ENST00000380622.2	Missense_Mutation	SNP	X : 13337260 - 13337260 C PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	941	69
CHD6	84181	broad.mit.edu	37	20	40127944	40127944	+	Silent	SNP	A	A	G			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr20:40127944A>G	ENST00000373233.3	-	6	1083	c.906T>C	c.(904-906)acT>acC	p.T302T	CHD6_ENST00000309279.7_Silent_p.T302T|CHD6_ENST00000373222.3_Silent_p.T337T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	302	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTCCTGGACAGTCTTAGATG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	66	71			NA	NA	20		NA											NA				40127944		2203	4300	6503	SO:0001819	synonymous_variant			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177	NA	84181			19057	protein-coding gene	gene with protein product					NA	11889561	Standard		NM_032221	NA	Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.906T>C	20.37:g.40127944A>G		NA	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275613	0.23307	.	.	ENSG00000124177	ENST00000440697	.	.	.	4.44	-6.54	0.01860	.	.	.	.	.	T	0.46386	0.1390	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47711	-0.9096	4	.	.	.	-6.3713	6.0898	0.19989	0.1718:0.214:0.5181:0.0962	.	.	.	.	P	5	.	.	L	-	2	0	CHD6	39561358	0.465000	0.25815	0.861000	0.33841	0.991000	0.79684	-0.339000	0.07832	-1.366000	0.02155	0.459000	0.35465	CTG	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079270.1		-	ENST00000373233.3	Silent	SNP	20 : 40127944 - 40127944 G PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	66	7
CLDN8	9073	broad.mit.edu	37	21	31588019	31588019	+	Silent	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr21:31588019C>T	ENST00000399899.1	-	1	372	c.225G>A	c.(223-225)ccG>ccA	p.P75P	CLDN8_ENST00000286809.1_Silent_p.P75P	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	75					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CCTGTAGGTCCGGAGAAAGAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	81	84			NA	NA	21		NA											NA				31588019		2203	4300	6503	SO:0001819	synonymous_variant			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284	9073	9073		Claudins	2050	protein-coding gene	gene with protein product		611231			NA	9892664	Standard	NM_199328	NM_199328	NA	Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.225G>A	21.37:g.31588019C>T		NA	D3DSE3|Q53EX7	37	CCDS13587.1																																																																																			CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000182260.1		-	ENST00000399899.1	Silent	SNP	21 : 31588019 - 31588019 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	509	25
CNN2	1265	broad.mit.edu	37	19	1032666	1032666	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr19:1032666C>A	ENST00000263097.4	+	4	724	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.Q121K|CNN2_ENST00000348419.3_Missense_Mutation_p.Q121K|CNN2_ENST00000565096.2_Intron	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	121	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACgcaggtgcaggtgtctct	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	34	37			NA	NA	19		NA											NA				1032666		2203	4299	6502	SO:0001583	missense			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666	1265	1265			2156	protein-coding gene	gene with protein product		602373			NA	8889829	Standard	NM_004368	NM_004368	NA	Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.361C>A	19.37:g.1032666C>A	ENSP00000263097:p.Gln121Lys	NA	A5D8U8|D6W5X9|Q92578	37	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775353	0.70107	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	D;T	0.94966	-3.57;0.28	4.05	4.05	0.47172	Calponin homology domain (5);	0.000000	0.64402	U	0.000001	D	0.97077	0.9045	M	0.86178	2.8	0.47441	D	0.999423	B;D;P;D	0.76494	0.132;0.971;0.933;0.999	P;D;P;D	0.77557	0.475;0.913;0.852;0.99	D	0.97314	0.9939	10	0.54805	T	0.06	.	13.759	0.62954	0.0:1.0:0.0:0.0	.	121;121;121;121	B4DUT8;A6NFI4;Q99439;Q6FHE4	.;.;CNN2_HUMAN;.	K	121;121;100	ENSP00000263097:Q121K;ENSP00000340129:Q121K	ENSP00000263097:Q121K	Q	+	1	0	CNN2	983666	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.177000	0.77650	1.827000	0.53221	0.306000	0.20318	CAG	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420293.3		+	ENST00000263097.4	Missense_Mutation	SNP	19 : 1032666 - 1032666 A PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	197	8
DENND5B	160518	broad.mit.edu	37	12	31613289	31613289	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:31613289C>T	ENST00000389082.5	-	4	1195	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	DENND5B_ENST00000354285.4_Missense_Mutation_p.E333K|DENND5B_ENST00000306833.6_Missense_Mutation_p.E346K|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000536562.1_Missense_Mutation_p.E346K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	311	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTGATGCCTTCTGCCACAGTC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	85	85			NA	NA	12		NA											NA				31613289		1976	4153	6129	SO:0001583	missense			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456	160518	160518		DENN/MADD domain containing	28338	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144973	NM_144973	NA	Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.931G>A	12.37:g.31613289C>T	ENSP00000373734:p.Glu311Lys	NA	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360292	0.95877	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	4.65	4.65	0.58169	DENN (3);	0.000000	0.64402	D	0.000001	T	0.40743	0.1129	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.37314	-0.9711	10	0.72032	D	0.01	-25.197	18.0731	0.89417	0.0:1.0:0.0:0.0	.	346;233;333;311;346	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	K	311;346;346;333;263	ENSP00000373734:E311K;ENSP00000306482:E346K;ENSP00000444889:E346K;ENSP00000346238:E333K;ENSP00000442938:E263K	ENSP00000306482:E346K	E	-	1	0	DENND5B	31504556	1.000000	0.71417	0.960000	0.40013	0.968000	0.65278	7.410000	0.80065	2.569000	0.86673	0.655000	0.94253	GAA	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402040.1		-	ENST00000389082.5	Missense_Mutation	SNP	12 : 31613289 - 31613289 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	297	13
EXTL2	2135	broad.mit.edu	37	1	101343415	101343415	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:101343415C>T	ENST00000370114.3	-	3	1486	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	EXTL2_ENST00000535414.1_Missense_Mutation_p.R4Q|EXTL2_ENST00000370113.3_Missense_Mutation_p.R17Q	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	17					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TCGAAGCACTCGAATCCCCAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	53	58			NA	NA	1		NA											NA				101343415		2203	4300	6503	SO:0001583	missense			U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2135	2135	2.4.1.223	Exostosin glycosyltransferase family	3516	protein-coding gene	gene with protein product	alpha-1,4-N-acteylhexosaminyltransferase	602411	exostoses (multiple)-like 2		NA	9450183, 15831490	Standard	NM_001439	NM_001439	NA	Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.50G>A	1.37:g.101343415C>T	ENSP00000359132:p.Arg17Gln	NA	B2R795|D3DT60	37	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572697	0.65765	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	D;D;D;D;T	0.84660	-1.83;-1.83;-1.88;-1.87;0.49	5.51	5.51	0.81932	.	0.136031	0.49916	D	0.000123	T	0.69006	0.3063	L	0.32530	0.975	0.43947	D	0.996613	P;P	0.40360	0.714;0.714	B;B	0.21151	0.033;0.033	T	0.77275	-0.2648	10	0.72032	D	0.01	-15.1477	19.7818	0.96418	0.0:1.0:0.0:0.0	.	17;17	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	Q	17;17;4;25;4	ENSP00000359132:R17Q;ENSP00000359131:R17Q;ENSP00000444385:R4Q;ENSP00000403363:R25Q;ENSP00000392255:R4Q	ENSP00000359131:R17Q	R	-	2	0	EXTL2	101116003	0.997000	0.39634	0.279000	0.24732	0.277000	0.26821	4.430000	0.59907	2.736000	0.93811	0.655000	0.94253	CGA	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032705.1		-	ENST00000370114.3	Missense_Mutation	SNP	1 : 101343415 - 101343415 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	221	9
GLB1L3	112937	broad.mit.edu	37	11	134182352	134182352	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr11:134182352G>A	ENST00000431683.2	+	14	1397	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	466					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGGAGGCCGCCTCCGTGCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4206		0,0,2103	38	41	40		1397	-9.4	0	11		40	1,8443		0,1,4221	no	missense	GLB1L3	NM_001080407.2	29	0,1,6324	AA,AG,GG	NA	0.0118,0.0,0.0079	benign	466/654	134182352	1,12649	2103	4222	6325	SO:0001583	missense				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105	112937	112937			25147	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138416	NM_001080407	NA	Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1397G>A	11.37:g.134182352G>A	ENSP00000396615:p.Arg466His	NA	A6NEM0|A6NN15|Q6P3S3|Q96FF8	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	6.749	0.507092	0.12883	0.0	1.18E-4	ENSG00000166105	ENST00000431683	D	0.92752	-3.1	4.69	-9.38	0.00623	.	5.286760	0.00166	N	0.000000	D	0.83760	0.5324	L	0.28400	0.85	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.71444	-0.4591	10	0.44086	T	0.13	.	4.4312	0.11529	0.0864:0.1553:0.3909:0.3674	.	466	Q8NCI6	GLBL3_HUMAN	H	466	ENSP00000396615:R466H	ENSP00000396615:R466H	R	+	2	0	GLB1L3	133687562	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.437000	0.02419	-3.768000	0.00109	-1.608000	0.00805	CGC	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393625.1		+	ENST00000431683.2	Missense_Mutation	SNP	11 : 134182352 - 134182352 A PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	258	21
GRIN2A	2903	broad.mit.edu	37	16	10274206	10274206	+	Silent	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr16:10274206C>T	ENST00000396573.2	-	3	372	c.63G>A	c.(61-63)ccG>ccA	p.P21P	GRIN2A_ENST00000404927.2_Silent_p.P21P|GRIN2A_ENST00000330684.3_Silent_p.P21P|GRIN2A_ENST00000396575.2_Silent_p.P21P|GRIN2A_ENST00000562109.1_Silent_p.P21P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	21					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTCGGCGCCGGACCGCGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	20	19			NA	NA	16		NA											NA				10274206		2189	4283	6472	SO:0001819	synonymous_variant				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454	NA	2903		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4585	protein-coding gene	gene with protein product		138253		NMDAR2A	NA	9480759	Standard		XM_005255267	NA	Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.63G>A	16.37:g.10274206C>T		NA	O00669	37	CCDS10539.1																																																																																			GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251930.3		-	ENST00000396573.2	Silent	SNP	16 : 10274206 - 10274206 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	255	17
HMOX2	3163	broad.mit.edu	37	16	4557846	4557846	+	Missense_Mutation	SNP	A	A	T	rs150288371	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr16:4557846A>T	ENST00000570646.1	+	4	942	c.337A>T	c.(337-339)Atg>Ttg	p.M113L	HMOX2_ENST00000414777.1_Missense_Mutation_p.M113L|HMOX2_ENST00000575120.1_Missense_Mutation_p.M84L|HMOX2_ENST00000219700.6_Missense_Mutation_p.M113L|HMOX2_ENST00000458134.3_Missense_Mutation_p.M113L|HMOX2_ENST00000406590.2_Missense_Mutation_p.M113L|HMOX2_ENST00000398595.3_Missense_Mutation_p.M113L	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	113					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GACCAAGGACATGGAGTATTT	0.577		NA											A	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	5e-04	SNP								NA				0								A	LEU/MET,LEU/MET,LEU/MET,LEU/MET	2,4392	4.2+/-10.8	0,2,2195	75	65	68		337,337,337,337	4.5	1	16	dbSNP_134	68	19,8581	14.0+/-48.4	0,19,4281	yes	missense,missense,missense,missense	HMOX2	NM_001127204.1,NM_001127205.1,NM_001127206.1,NM_002134.3	15,15,15,15	0,21,6476	TT,TA,AA	NA	0.2209,0.0455,0.1616	benign,benign,benign,benign	113/317,113/317,113/317,113/317	4557846	21,12973	2197	4300	6497	SO:0001583	missense				CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	3163	3163	1.14.99.3		5014	protein-coding gene	gene with protein product		141251			NA	1575508	Standard		NM_002134	NA	Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.337A>T	16.37:g.4557846A>T	ENSP00000459214:p.Met113Leu	NA	A8MT35|D3DUD5|O60605	37	CCDS10517.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	2.895	-0.228848	0.06022	4.55E-4	0.002209	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33	5.62	4.51	0.55191	Haem oxygenase-like, multi-helical (2);	0.087753	0.85682	N	0.000000	T	0.02012	0.0063	N	0.01009	-1.055	0.47862	D	0.999538	B;B	0.15473	0.013;0.013	B;B	0.17722	0.019;0.019	T	0.38564	-0.9655	10	0.02654	T	1	-17.4982	11.3034	0.49320	0.5809:0.4191:0.0:0.0	.	113;113	B3KSE0;P30519	.;HMOX2_HUMAN	L	113	ENSP00000385100:M113L;ENSP00000394103:M113L;ENSP00000219700:M113L;ENSP00000391637:M113L;ENSP00000381595:M113L	ENSP00000219700:M113L	M	+	1	0	HMOX2	4497847	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	2.361000	0.44160	0.942000	0.37525	-0.466000	0.05196	ATG	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251636.2		+	ENST00000570646.1	Missense_Mutation	SNP	16 : 4557846 - 4557846 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	349	14
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	0	0
MPO	4353	broad.mit.edu	37	17	56349236	56349236	+	Missense_Mutation	SNP	G	G	A	rs35670089		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr17:56349236G>A	ENST00000225275.3	-	11	1986	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	MPO_ENST00000340482.3_Missense_Mutation_p.R636C	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	604			R -> C (in dbSNP:rs35670089).		anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCACAGAAGCGCCTCCAGGCA	0.602		NA											G	2	9e-04	0.002	NA	2184	0.0017	1	,	,	NA	5e-04	NA	NA	NA	9e-04	0.9768	EXOME	NA	NA	0.0047	SNP								NA				0													74	66	69			NA	NA	17		NA											NA				56349236		2203	4300	6503	SO:0001583	missense				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	4353	4353	1.11.1.7		7218	protein-coding gene	gene with protein product		606989			NA		Standard		NM_000250	NA	Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1810C>T	17.37:g.56349236G>A	ENSP00000225275:p.Arg604Cys	NA	A1L4B8|Q14862|Q4PJH5|Q9UCL7	37	CCDS11604.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	14.86	2.662541	0.47572	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.71461	-0.57;-0.57	5.04	2.93	0.34026	.	0.230287	0.42172	D	0.000755	T	0.73450	0.3588	M	0.92738	3.34	0.49798	D	0.999821	P	0.44090	0.826	B	0.38842	0.283	T	0.77629	-0.2516	10	0.66056	D	0.02	-17.7887	8.8158	0.34996	0.0:0.1222:0.5086:0.3692	rs35670089	604	P05164	PERM_HUMAN	C	636;604	ENSP00000344419:R636C;ENSP00000225275:R604C	ENSP00000225275:R604C	R	-	1	0	MPO	53704235	0.805000	0.28982	1.000000	0.80357	0.954000	0.61252	1.598000	0.36740	1.109000	0.41680	0.467000	0.42956	CGC	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443971.1		-	ENST00000225275.3	Missense_Mutation	SNP	17 : 56349236 - 56349236 A PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	612	32
PCYT2	5833	broad.mit.edu	37	17	79866486	79866486	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr17:79866486C>T	ENST00000538936.2	-	4	473	c.365G>A	c.(364-366)gGc>gAc	p.G122D	PCYT2_ENST00000570391.1_Missense_Mutation_p.G90D|PCYT2_ENST00000331285.3_Missense_Mutation_p.G44D|PCYT2_ENST00000538721.2_Missense_Mutation_p.G122D|PCYT2_ENST00000570388.1_Missense_Mutation_p.G44D|PCYT2_ENST00000571105.1_Missense_Mutation_p.G122D	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	122	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGTGTCCCGGCCATCTACAGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	98	105			NA	NA	17		NA											NA				79866486		2202	4300	6502	SO:0001583	missense			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813	5833	5833			8756	protein-coding gene	gene with protein product		602679			NA	9083101	Standard	NM_002861	XM_005256386	NA	Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.365G>A	17.37:g.79866486C>T	ENSP00000439245:p.Gly122Asp	NA	Q6IBM3|Q96G08	37	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925191	0.92319	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	D;D	0.96396	-4.0;-4.0	4.61	4.61	0.57282	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.93594	3.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.99780	1.1027	10	0.87932	D	0	-34.8642	17.6458	0.88148	0.0:1.0:0.0:0.0	.	90;90;122;44;122	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	D	122;122;44	ENSP00000442050:G122D;ENSP00000439245:G122D	ENSP00000331719:G44D	G	-	2	0	PCYT2	77459778	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	5.058000	0.64300	2.380000	0.81148	0.650000	0.86243	GGC	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439939.1		-	ENST00000538936.2	Missense_Mutation	SNP	17 : 79866486 - 79866486 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	221	16
PHB2	11331	broad.mit.edu	37	12	7076924	7076924	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:7076924C>T	ENST00000535923.1	-	6	907	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	PHB2_ENST00000542912.1_Missense_Mutation_p.R209Q|PHB2_ENST00000399433.2_Missense_Mutation_p.R209Q|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000440277.1_Intron	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	209					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						GAATTGGGCCCGCTGGGCCTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG	0,3820		0,0,1910	108	117	114		626,626	4.6	1	12		114	1,8245		0,1,4122	no	missense,missense	PHB2	NM_001144831.1,NM_007273.3	43,43	0,1,6032	TT,TC,CC	NA	0.0121,0.0,0.0083	possibly-damaging,possibly-damaging	209/300,209/300	7076924	1,12065	1910	4123	6033	SO:0001583	missense			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021	11331	11331			30306	protein-coding gene	gene with protein product		610704			NA	11302691, 9259555	Standard	NM_007273	NM_001144831	NA	Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.626G>A	12.37:g.7076924C>T	ENSP00000441875:p.Arg209Gln	NA	Q2YDA4|Q7KYU3|Q92978	37	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472233	0.96274	0.0	1.21E-4	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000545167	.	.	.	4.6	4.6	0.57074	.	0.000000	0.64402	U	0.000002	D	0.82440	0.5037	M	0.90814	3.15	0.80722	D	1	P	0.50443	0.935	P	0.55965	0.788	D	0.87103	0.2180	9	0.87932	D	0	-15.6752	17.6167	0.88069	0.0:1.0:0.0:0.0	.	209	Q99623	PHB2_HUMAN	Q	209;209;209;245	.	ENSP00000382362:R209Q	R	-	2	0	PHB2	6947185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.617000	0.83032	2.389000	0.81357	0.655000	0.94253	CGG	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400040.3		-	ENST00000535923.1	Missense_Mutation	SNP	12 : 7076924 - 7076924 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	1176	39
PLXDC1	57125	broad.mit.edu	37	17	37296037	37296037	+	Missense_Mutation	SNP	C	C	A	rs35450036	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr17:37296037C>A	ENST00000315392.4	-	2	336	c.125G>T	c.(124-126)cGg>cTg	p.R42L	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.R42L|PLXDC1_ENST00000444911.2_Intron	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	42					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTTCCAGCCCCGCACGGTCCC	0.657		NA											C	18	0.01	0.03	0.01	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	0.0085	0.9863	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								C	LEU/ARG	66,4340	59.9+/-96.7	0,66,2137	45	46	46		125	-4	0	17	dbSNP_126	46	7,8593	5.7+/-21.5	0,7,4293	yes	missense	PLXDC1	NM_020405.4	102	0,73,6430	AA,AC,CC	NA	0.0814,1.498,0.5613	benign	42/501	37296037	73,12933	2203	4300	6503	SO:0001583	missense			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381	57125	57125			20945	protein-coding gene	gene with protein product	tumor endothelial marker 7 precursor	606826			NA	10947988, 11559528	Standard	NM_020405	NM_020405	NA	Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.125G>T	17.37:g.37296037C>A	ENSP00000323927:p.Arg42Leu	NA	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	37	CCDS11333.1	18	0.008241758241758242	14	0.028455284552845527	4	0.011049723756906077	0	0.0	0	0.0	C	4.525	0.097367	0.08681	0.01498	8.14E-4	ENSG00000161381	ENST00000315392;ENST00000394316	T	0.23348	1.91	5.39	-3.98	0.04082	.	1.246720	0.05575	N	0.571727	T	0.03695	0.0105	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	10	0.11485	T	0.65	0.0837	3.499	0.07666	0.1465:0.4701:0.1352:0.2483	rs35450036	42	Q8IUK5	PXDC1_HUMAN	L	42	ENSP00000323927:R42L	ENSP00000323927:R42L	R	-	2	0	PLXDC1	34549563	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-0.916000	0.04029	-0.421000	0.07416	-0.367000	0.07326	CGG	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256892.2		-	ENST00000315392.4	Missense_Mutation	SNP	17 : 37296037 - 37296037 A PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	388	16
RNF10	9921	broad.mit.edu	37	12	120984337	120984337	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr12:120984337C>T	ENST00000325954.4	+	2	748	c.287C>T	c.(286-288)cCt>cTt	p.P96L	RNF10_ENST00000413266.2_Missense_Mutation_p.P96L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	96	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACAAGATGCCTCCTCAAAGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	82	81			NA	NA	12		NA											NA				120984337		2203	4300	6503	SO:0001583	missense			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840	9921	9921		RING-type (C3HC4) zinc fingers	10055	protein-coding gene	gene with protein product					NA		Standard		NM_014868	NA	Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.287C>T	12.37:g.120984337C>T	ENSP00000322242:p.Pro96Leu	NA	Q92550|Q9NPP8|Q9ULW4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037389	0.93630	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000537997	D;D	0.90261	-2.63;-2.64	5.03	5.03	0.67393	.	0.052596	0.85682	D	0.000000	D	0.95348	0.8490	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95468	0.8549	10	0.59425	D	0.04	.	18.7237	0.91705	0.0:1.0:0.0:0.0	.	96;96	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	L	96;96;96;46	ENSP00000322242:P96L;ENSP00000415682:P96L	ENSP00000322242:P96L	P	+	2	0	RNF10	119468720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.158000	0.77470	2.479000	0.83701	0.655000	0.94253	CCT	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401898.4		+	ENST00000325954.4	Missense_Mutation	SNP	12 : 120984337 - 120984337 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	599	18
SPAG4	6676	broad.mit.edu	37	20	34204182	34204182	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr20:34204182A>G	ENST00000374273.3	+	1	369	c.257A>G	c.(256-258)aAc>aGc	p.N86S		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	86					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CGGAGCCACAACTGGCAGACA	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	7	6			NA	NA	20		NA											NA				34204182		1811	3791	5602	SO:0001583	missense			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656	6676	6676			11214	protein-coding gene	gene with protein product	acrosomal protein ACR55, Sad1 and UNC84 domain containing 4, cancer/testis antigen 127	603038			NA	9691178, 10373309	Standard	NM_003116	NM_003116	NA	Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.257A>G	20.37:g.34204182A>G	ENSP00000363391:p.Asn86Ser	NA	O43648	37	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867046	0.32977	.	.	ENSG00000061656	ENST00000374273	T	0.13778	2.56	4.62	-0.622	0.11560	.	0.444886	0.20171	N	0.097736	T	0.07548	0.0190	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23048	-1.0199	10	0.49607	T	0.09	-15.5229	4.3605	0.11199	0.4206:0.3763:0.2031:0.0	.	86	Q9NPE6	SPAG4_HUMAN	S	86	ENSP00000363391:N86S	ENSP00000363391:N86S	N	+	2	0	SPAG4	33667596	0.094000	0.21725	0.452000	0.26994	0.806000	0.45545	0.219000	0.17641	0.001000	0.14605	0.459000	0.35465	AAC	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078896.1		+	ENST00000374273.3	Missense_Mutation	SNP	20 : 34204182 - 34204182 G PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	71	6
TBC1D4	9882	broad.mit.edu	37	13	75884223	75884223	+	Silent	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr13:75884223C>T	ENST00000377636.3	-	14	2794	c.2448G>A	c.(2446-2448)ccG>ccA	p.P816P	TBC1D4_ENST00000431480.2_Silent_p.P808P|TBC1D4_ENST00000425511.1_Silent_p.P33P|TBC1D4_ENST00000377625.2_Silent_p.P753P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	816						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATACAACCAGCGGTTCCTCCT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	70	72			NA	NA	13		NA											NA				75884223		1869	4097	5966	SO:0001819	synonymous_variant			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111	9882	9882			19165	protein-coding gene	gene with protein product	Akt substrate of 160 kDa	612465			NA	11829485, 11994271, 15304337	Standard	NM_014832	XM_005266603	NA	Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2448G>A	13.37:g.75884223C>T		NA	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	37	CCDS41901.1																																																																																			TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045283.1		-	ENST00000377636.3	Silent	SNP	13 : 75884223 - 75884223 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	279	22
TET2	54790	broad.mit.edu	37	4	106155620	106155620	+	Missense_Mutation	SNP	C	C	A	rs146031219	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr4:106155620C>A	ENST00000513237.1	+	3	1381	c.584C>A	c.(583-585)cCt>cAt	p.P195H	TET2_ENST00000305737.2_Missense_Mutation_p.P174H|TET2_ENST00000540549.1_Missense_Mutation_p.P174H|TET2_ENST00000394764.1_Missense_Mutation_p.P174H|TET2_ENST00000380013.4_Missense_Mutation_p.P174H|TET2_ENST00000413648.2_Missense_Mutation_p.P174H|TET2_ENST00000545826.1_Missense_Mutation_p.P174H			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	174					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P174fs*9(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGCAGTGGGCCTGAAAATCCA	0.393		NA	Mis N, F		MDS								C	2	9e-04	NA	NA	2184	NA	0.9999	,	,	NA	2e-04	0.0026	NA	NA	8e-04	0.931	EXOME	NA	NA	7e-04	SNP			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)						C	HIS/PRO,HIS/PRO	1,4405	2.1+/-5.4	0,1,2202	45	41	42		521,521	3.5	0.2	4	dbSNP_134	42	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense	TET2	NM_001127208.2,NM_017628.4	77,77	0,14,6489	AA,AC,CC	NA	0.1512,0.0227,0.1076	benign,benign	174/2003,174/1166	106155620	14,12992	2203	4300	6503	SO:0001583	missense			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769	54790	54790			25941	protein-coding gene	gene with protein product		612839	KIAA1546, tet oncogene family member 2	KIAA1546	NA	10997877, 12646957	Standard	NM_017628	NM_017628	NA	Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000513237.1:c.584C>A	4.37:g.106155620C>A	ENSP00000425443:p.Pro195His	NA	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	37		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	6.293	0.422103	0.11928	2.27E-4	0.001512	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.03580	3.88;4.51;3.88;4.51;4.51;3.88;3.89	5.28	3.52	0.40303	.	2.809240	0.02021	U	0.047775	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B;B;B	0.29571	0.05;0.05;0.249	B;B;B	0.30401	0.054;0.054;0.115	T	0.38067	-0.9678	10	0.62326	D	0.03	.	6.1984	0.20563	0.0:0.6803:0.154:0.1657	.	195;174;174	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	H	174;174;174;195;174;174;174;174	ENSP00000306705:P174H;ENSP00000442788:P174H;ENSP00000442867:P174H;ENSP00000425443:P195H;ENSP00000369351:P174H;ENSP00000378245:P174H;ENSP00000391448:P174H	ENSP00000265149:P174H	P	+	2	0	TET2	106375069	0.891000	0.30450	0.239000	0.24122	0.363000	0.29612	0.776000	0.26704	0.573000	0.29400	0.655000	0.94253	CCT	TET2-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000363308.1		+	ENST00000513237.1	Missense_Mutation	SNP	4 : 106155620 - 106155620 A PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	183	8
TMEM57	55219	broad.mit.edu	37	1	25785272	25785272	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:25785272G>T	ENST00000374343.4	+	6	1222	c.1043G>T	c.(1042-1044)aGt>aTt	p.S348I	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	348						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCATCTAGTAAAAATGAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	128	128			NA	NA	1		NA											NA				25785272		2203	4300	6503	SO:0001583	missense			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178	55219	55219			25572	protein-coding gene	gene with protein product		610301			NA	12459264, 15255972	Standard	NM_018202	XM_005245931	NA	Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1043G>T	1.37:g.25785272G>T	ENSP00000363463:p.Ser348Ile	NA	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978567	0.34942	.	.	ENSG00000204178	ENST00000374343	T	0.14144	2.53	5.78	5.78	0.91487	.	0.355028	0.36665	N	0.002474	T	0.16557	0.0398	L	0.57536	1.79	0.80722	D	1	B	0.24043	0.096	B	0.21546	0.035	T	0.01508	-1.1337	10	0.37606	T	0.19	-4.0307	13.8878	0.63719	0.0:0.253:0.747:0.0	.	348	Q8N5G2	MACOI_HUMAN	I	348	ENSP00000363463:S348I	ENSP00000363463:S348I	S	+	2	0	TMEM57	25657859	0.998000	0.40836	0.996000	0.52242	0.988000	0.76386	3.390000	0.52523	2.724000	0.93272	0.563000	0.77884	AGT	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009659.2		+	ENST00000374343.4	Missense_Mutation	SNP	1 : 25785272 - 25785272 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	781	32
TOX4	9878	broad.mit.edu	37	14	21963449	21963449	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr14:21963449C>T	ENST00000405508.1	+	9	1979	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	TOX4_ENST00000262709.3_Missense_Mutation_p.P568L|TOX4_ENST00000448790.2_Missense_Mutation_p.P545L			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	568						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GCACTCTCACCCCAGCCTCGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	165	179			NA	NA	14		NA											NA				21963449		2203	4300	6503	SO:0001583	missense			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203	9878	9878			20161	protein-coding gene	gene with protein product		614032	chromosome 14 open reading frame 92, KIAA0737	C14orf92, KIAA0737	NA		Standard	NM_014828	NM_014828	NA	Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1703C>T	14.37:g.21963449C>T	ENSP00000385102:p.Pro568Leu	NA		37	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340897	0.81911	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.14391	2.54;2.54;2.51	5.57	5.57	0.84162	.	0.166361	0.40302	N	0.001131	T	0.21347	0.0514	L	0.49126	1.545	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.46362	0.514;0.514	T	0.00282	-1.1850	10	0.72032	D	0.01	.	18.6982	0.91610	0.0:1.0:0.0:0.0	.	545;568	B4DPY8;O94842	.;TOX4_HUMAN	L	568;568;545;496	ENSP00000385102:P568L;ENSP00000262709:P568L;ENSP00000393080:P545L	ENSP00000262709:P568L	P	+	2	0	TOX4	21033289	0.991000	0.36638	1.000000	0.80357	0.996000	0.88848	3.079000	0.50104	2.770000	0.95276	0.650000	0.86243	CCC	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317287.2		+	ENST00000405508.1	Missense_Mutation	SNP	14 : 21963449 - 21963449 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	580	21
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)											47	47	47			NA	NA	17		NA											NA				7578394		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.536A>G	17.37:g.7578394T>C	ENSP00000391127:p.His179Arg	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578394 - 7578394 C PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	340	18
TRIOBP	11078	broad.mit.edu	37	22	38120431	38120431	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr22:38120431A>T	ENST00000406386.3	+	7	2123	c.1868A>T	c.(1867-1869)aAc>aTc	p.N623I		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	623					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACACGAGATAACCCCAGAACA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	139	134			NA	NA	22		NA											NA				38120431		1943	4152	6095	SO:0001583	missense			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106	11078	11078		Pleckstrin homology (PH) domain containing	17009	protein-coding gene	gene with protein product		609761		DFNB28	NA	11148140, 16385457, 16385458	Standard		NM_001039141	NA	Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1868A>T	22.37:g.38120431A>T	ENSP00000384312:p.Asn623Ile	NA	B1AHD4|B1AHD7|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	9.134	1.012121	0.19277	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20738	2.05	2.17	-0.564	0.11774	.	.	.	.	.	T	0.11922	0.0290	L	0.46157	1.445	0.09310	N	1	P	0.38565	0.637	B	0.23574	0.047	T	0.21211	-1.0252	9	0.56958	D	0.05	.	2.4349	0.04480	0.5132:0.2956:0.1911:0.0	.	623	Q9H2D6	TARA_HUMAN	I	623	ENSP00000384312:N623I	ENSP00000384312:N623I	N	+	2	0	TRIOBP	36450377	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	-2.334000	0.01107	0.103000	0.17682	0.254000	0.18369	AAC	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319439.2		+	ENST00000406386.3	Missense_Mutation	SNP	22 : 38120431 - 38120431 T PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	821	54
UNC5B	219699	broad.mit.edu	37	10	73046540	73046540	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr10:73046540G>A	ENST00000335350.6	+	5	1063	c.647G>A	c.(646-648)cGc>cAc	p.R216H	UNC5B_ENST00000373192.4_Missense_Mutation_p.R216H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	216	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.R216H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CGCCAGGCCCGCCTGTCGGAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											207	195	199			NA	NA	10		NA											NA				73046540		2203	4300	6503	SO:0001583	missense			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731	219699	219699		Immunoglobulin superfamily / I-set domain containing	12568	protein-coding gene	gene with protein product		607870	unc5 (C.elegans homolog) b		NA		Standard	NM_170744	NM_170744	NA	Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.647G>A	10.37:g.73046540G>A	ENSP00000334329:p.Arg216His	NA	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227582	0.79576	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.67698	-0.28;-0.28	5.43	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85330	0.1089	10	0.87932	D	0	-34.0893	14.2307	0.65890	0.0717:0.0:0.9283:0.0	.	216;216	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	H	216	ENSP00000334329:R216H;ENSP00000362288:R216H	ENSP00000334329:R216H	R	+	2	0	UNC5B	72716546	1.000000	0.71417	0.984000	0.44739	0.372000	0.29890	9.869000	0.99810	1.312000	0.45043	0.561000	0.74099	CGC	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048541.1		+	ENST00000335350.6	Missense_Mutation	SNP	10 : 73046540 - 73046540 A PAAD-TCGA-HZ-8519-Tumor-SM-3MVDG	1741	60
