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	161167857	161167857	+	Silent	SNP	G	G	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:161167857G>T	ENST00000367996.5	-	1	989	c.561C>A	c.(559-561)gcC>gcA	p.A187A	ADAMTS4_ENST00000367995.3_Silent_p.A187A	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	NA					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)			CTTGACCGCTGGCAGGACTCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	61			NA	NA	1		NA											NA				161167857		2203	4300	6503	SO:0001819	synonymous_variant			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.561C>A	1.37:g.161167857G>T		NA	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	37	CCDS1223.1																																																																																			ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083066.2		-	ENST00000367996.5	Silent	SNP	1 : 161167857 - 161167857 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	559	123
ATXN10	25814	broad.mit.edu	37	22	46098600	46098600	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:46098600G>A	ENST00000252934.5	+	5	785	c.520G>A	c.(520-522)Gtt>Att	p.V174I	ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.V110I	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	174					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CAAAAAAATTGTTGCCTACTC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	94	96			NA	NA	22		NA											NA				46098600		2203	4300	6503	SO:0001583	missense			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638	25814	25814		Ataxins	10549	protein-coding gene	gene with protein product		611150	spinocerebellar ataxia 10	SCA10	NA	9973298	Standard	NM_013236	NM_013236	NA	Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.520G>A	22.37:g.46098600G>A	ENSP00000252934:p.Val174Ile	NA	O14998|O15009|Q6I9X4	37	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687268	0.68157	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.50277	0.75;0.75	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.059143	0.64402	D	0.000002	T	0.38772	0.1053	N	0.20986	0.625	0.53005	D	0.999969	P;P	0.45176	0.73;0.852	B;B	0.41299	0.353;0.243	T	0.09773	-1.0659	10	0.28530	T	0.3	-9.6916	19.2565	0.93948	0.0:0.0:1.0:0.0	.	110;174	A6NLC4;Q9UBB4	.;ATX10_HUMAN	I	110;174;174	ENSP00000370449:V110I;ENSP00000252934:V174I	ENSP00000252934:V174I	V	+	1	0	ATXN10	44477264	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.370000	0.44240	2.800000	0.96347	0.591000	0.81541	GTT	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318142.2		+	ENST00000252934.5	Missense_Mutation	SNP	22 : 46098600 - 46098600 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	417	102
CDH11	1009	broad.mit.edu	37	16	65005912	65005912	+	Silent	SNP	G	G	A	rs146549125	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:65005912G>A	ENST00000394156.3	-	10	1899	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	CDH11_ENST00000566827.1_Silent_p.N356N|CDH11_ENST00000268603.4_Silent_p.N482N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	482	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAGCATTATCGTTGACATCAA	0.473		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G	15	0.01	0.03	NA	2184	NA	0.9998	,	,	NA	2e-04	NA	NA	NA	0.0069	0.9893	LOWCOV,EXOME	NA	NA	3e-04	SNP			Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0								G		37,4369	40.0+/-72.8	0,37,2166	112	95	101		1446	-9.9	0.2	16	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous	CDH11	NM_001797.2		0,37,6466	AA,AG,GG	NA	0.0,0.8398,0.2845		482/797	65005912	37,12969	2203	4300	6503	SO:0001819	synonymous_variant			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937	1009	1009		Cadherins / Major cadherins	1750	protein-coding gene	gene with protein product	OB-Cadherin	600023			NA	9615235	Standard	NM_033664	NM_001797	NA	Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000394156.3:c.1446C>T	16.37:g.65005912G>A		NA	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	37																																																																																				CDH11-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268756.1		-	ENST00000394156.3	Silent	SNP	16 : 65005912 - 65005912 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	264	61
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:21971111G>A	ENST00000479692.2	-	2	108	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			L -> P (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385						12	15	14			NA	NA	9		NA											NA				21971111		2176	4259	6435	SO:0001583	missense			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.94C>T	9.37:g.21971111G>A	ENSP00000466887:p.His32Tyr	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC	CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Missense_Mutation	SNP	9 : 21971111 - 21971111 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	150	51
COL22A1	169044	broad.mit.edu	37	8	139767411	139767411	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:139767411G>A	ENST00000303045.6	-	21	2466	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P674S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	674	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGAGCTCCTGGAGGACCGGGG	0.567		NA								HNSCC(7;0.00092)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	79	77			NA	NA	8		NA											NA				139767411		2203	4300	6503	SO:0001583	missense			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436	169044	169044		Collagens	22989	protein-coding gene	gene with protein product		610026			NA		Standard	XM_291257	NM_152888	NA	Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2020C>T	8.37:g.139767411G>A	ENSP00000303153:p.Pro674Ser	NA	B7ZMH0|C9K0G4|Q8IVT9	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542600	0.45280	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94376	-3.41;-3.19	4.98	4.98	0.66077	.	0.308551	0.23002	U	0.053079	D	0.95411	0.8510	L	0.58669	1.825	0.50039	D	0.999843	D	0.89917	1.0	D	0.80764	0.994	D	0.94829	0.7994	10	0.51188	T	0.08	.	13.636	0.62223	0.0:0.0:1.0:0.0	.	674	Q8NFW1	COMA1_HUMAN	S	674;674;387	ENSP00000303153:P674S;ENSP00000387655:P674S	ENSP00000303153:P674S	P	-	1	0	COL22A1	139836593	0.996000	0.38824	0.977000	0.42913	0.042000	0.13812	2.770000	0.47662	2.597000	0.87782	0.591000	0.81541	CCA	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315905.2		-	ENST00000303045.6	Missense_Mutation	SNP	8 : 139767411 - 139767411 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	647	21
CTNNB1	1499	broad.mit.edu	37	3	41275669	41275669	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:41275669G>A	ENST00000349496.5	+	10	1844	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	CTNNB1_ENST00000396183.3_Missense_Mutation_p.A522T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A522T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A515T|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A522T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	522					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CCTTTGTCCCGCAAATCATGC	0.468		15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	0													156	135	142			NA	NA	3		NA											NA				41275669		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036	1499	1499		Armadillo repeat containing	2514	protein-coding gene	gene with protein product		116806	catenin (cadherin-associated protein), beta 1 (88kD)	CTNNB	NA	7829088	Standard	NM_001098210	NM_001098210	NA	Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1564G>A	3.37:g.41275669G>A	ENSP00000344456:p.Ala522Thr	NA	A8K1L7|Q8NEW9|Q8NI94|Q9H391	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250043	0.80024	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.96	5.96	0.96718	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.70595	2.14	0.80722	D	1	B;P	0.42993	0.262;0.797	B;B	0.29077	0.017;0.098	T	0.61178	-0.7115	10	0.25106	T	0.35	-13.4527	20.422	0.99049	0.0:0.0:1.0:0.0	.	450;522	B4DSW9;P35222	.;CTNB1_HUMAN	T	522;522;522;515;522	ENSP00000385604:A522T;ENSP00000379486:A522T;ENSP00000344456:A522T;ENSP00000411226:A515T;ENSP00000379488:A522T	ENSP00000344456:A522T	A	+	1	0	CTNNB1	41250673	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	GCA	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254182.2		+	ENST00000349496.5	Missense_Mutation	SNP	3 : 41275669 - 41275669 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	303	5
DHRS9	10170	broad.mit.edu	37	2	169940070	169940070	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:169940070C>T	ENST00000327239.4	+	6	2049	c.545C>T	c.(544-546)gCa>gTa	p.A182V	DHRS9_ENST00000421653.1_Missense_Mutation_p.A35V|DHRS9_ENST00000412271.1_Missense_Mutation_p.A182V|DHRS9_ENST00000602501.1_Missense_Mutation_p.A182V|DHRS9_ENST00000436483.2_Missense_Mutation_p.A182V|DHRS9_ENST00000357546.2_Missense_Mutation_p.A182V|DHRS9_ENST00000428522.1_Missense_Mutation_p.A182V|DHRS9_ENST00000432060.2_Missense_Mutation_p.A242V	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	182					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAAATATGCAGTGGAAGGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	60	62			NA	NA	2		NA											NA				169940070		2203	4299	6502	SO:0001583	missense			AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737	10170	10170		Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	16888	protein-coding gene	gene with protein product	NADP-dependent retinol dehydrogenase/reductase, 3-alpha hydroxysteroid dehydrogenase, retinol dehydrogenase homolog, short chain dehydrogenase/reductase family 9C, member 4	612131			NA	11304534, 11294878, 19027726	Standard	NM_005771	NM_001142270	NA	Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.545C>T	2.37:g.169940070C>T	ENSP00000316670:p.Ala182Val	NA	D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	37	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898824	0.91962	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.95554	-3.05;-3.05;-3.05;-3.05;-3.74;-3.05;-3.05	5.93	5.05	0.67936	NAD(P)-binding domain (1);	0.097035	0.64402	D	0.000002	D	0.98595	0.9530	H	0.98068	4.14	0.45452	D	0.99842	D;D	0.67145	0.996;0.984	D;D	0.70487	0.969;0.925	D	0.99470	1.0945	10	0.87932	D	0	.	15.27	0.73693	0.0:0.583:0.417:0.0	.	242;182	B7Z416;Q9BPW9	.;DHRS9_HUMAN	V	182;182;242;182;35;182;182	ENSP00000316670:A182V;ENSP00000350154:A182V;ENSP00000389241:A242V;ENSP00000388564:A182V;ENSP00000388066:A35V;ENSP00000407167:A182V;ENSP00000407747:A182V	ENSP00000316670:A182V	A	+	2	0	DHRS9	169648316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.657000	0.61490	1.505000	0.48720	0.655000	0.94253	GCA	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333612.3		+	ENST00000327239.4	Missense_Mutation	SNP	2 : 169940070 - 169940070 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	333	69
DRP2	1821	broad.mit.edu	37	X	100506020	100506020	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:100506020A>G	ENST00000395209.3	+	16	2340	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	DRP2_ENST00000402866.1_Missense_Mutation_p.K605E|DRP2_ENST00000538510.1_Missense_Mutation_p.K605E|DRP2_ENST00000541709.1_Missense_Mutation_p.K527E	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	605					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGAGCAAGTGAAGCATCAGAC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	136	147			NA	NA	X		NA											NA				100506020		2203	4300	6503	SO:0001583	missense			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385	1821	1821			3032	protein-coding gene	gene with protein product		300052			NA	8640231	Standard	NM_001939	NM_001939	NA	Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1813A>G	X.37:g.100506020A>G	ENSP00000378635:p.Lys605Glu	NA	A6ZKI5|A8K1B0|B1B1F3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	A	33	5.278266	0.95459	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	6.06	6.06	0.98353	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94735	0.7913	10	0.87932	D	0	-23.2752	15.4998	0.75687	1.0:0.0:0.0:0.0	.	605	Q13474	DRP2_HUMAN	E	605;605;527;605	ENSP00000385038:K605E;ENSP00000378635:K605E;ENSP00000444752:K527E;ENSP00000441051:K605E	ENSP00000378635:K605E	K	+	1	0	DRP2	100392676	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.339000	0.96797	2.044000	0.60594	0.486000	0.48141	AAG	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057522.3		+	ENST00000395209.3	Missense_Mutation	SNP	X : 100506020 - 100506020 G PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	755	212
EHMT2	10919	broad.mit.edu	37	6	31851582	31851582	+	Splice_Site	SNP	C	C	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:31851582C>A	ENST00000395728.3	-	21	3087		c.e21+1		EHMT2_ENST00000375537.4_Splice_Site|EHMT2_ENST00000480912.1_Splice_Site|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Splice_Site|EHMT2_ENST00000375530.4_Splice_Site			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	NA					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCCCTACTCACCTGCAGGTGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	133	131			NA	NA	6		NA											NA				31851582		2203	4300	6503	SO:0001630	splice_region_variant			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	10919	10919	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases, Ankyrin repeat domain containing	14129	protein-coding gene	gene with protein product		604599	chromosome 6 open reading frame 30, HLA-B associated transcript 8	C6orf30, BAT8	NA	8457211, 11316813	Standard	NM_006709	XM_005274833	NA	Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000395728.3:c.3087+1G>T	6.37:g.31851582C>A		NA	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	37		.	.	.	.	.	.	.	.	.	.	C	18.38	3.611253	0.66558	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5583	0.76216	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EHMT2	31959561	1.000000	0.71417	0.994000	0.49952	0.797000	0.45037	7.543000	0.82106	2.402000	0.81655	0.655000	0.94253	.	EHMT2-008	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000268526.1	Intron	-	ENST00000395728.3	Splice_Site	SNP	6 : 31851582 - 31851582 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	1092	11
EPPK1	83481	broad.mit.edu	37	8	144946416	144946416	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:144946416G>A	ENST00000525985.1	-	2	1077	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W				P58107	EPIPL_HUMAN	epiplakin 1	336						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCACAGCCGCTGGCCTGTG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,3960		0,0,1980	26	31	29		1006	1.9	0	8		29	3,8275		0,3,4136	no	missense	EPPK1	NM_031308.1	101	0,3,6116	AA,AG,GG	NA	0.0362,0.0,0.0245	benign	336/2420	144946416	3,12235	1980	4139	6119	SO:0001583	missense			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150	83481	83481			15577	protein-coding gene	gene with protein product	epidermal autoantigen 450K	607553			NA	11278896, 15671067	Standard	NM_031308	NM_031308	NA	Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1006C>T	8.37:g.144946416G>A	ENSP00000436337:p.Arg336Trp	NA	Q76E58	37		.	.	.	.	.	.	.	.	.	.	G	12.23	1.875370	0.33162	0.0	3.62E-4	ENSG00000227184	ENST00000525985	T	0.79454	-1.27	4.96	1.85	0.25348	.	.	.	.	.	T	0.76350	0.3975	M	0.88979	2.995	0.09310	N	1	B	0.22346	0.068	B	0.15484	0.013	T	0.70139	-0.4954	9	0.66056	D	0.02	.	2.7639	0.05315	0.0966:0.144:0.485:0.2743	.	336	E9PPU0	.	W	336	ENSP00000436337:R336W	ENSP00000436337:R336W	R	-	1	2	EPPK1	145018404	0.000000	0.05858	0.004000	0.12327	0.830000	0.47004	0.727000	0.25999	0.647000	0.30713	0.511000	0.50034	CGG	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000382675.1		-	ENST00000525985.1	Missense_Mutation	SNP	8 : 144946416 - 144946416 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	353	6
EVI2A	2123	broad.mit.edu	37	17	29646024	29646024	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:29646024G>A	ENST00000247270.3	-	3	413	c.77C>T	c.(76-78)aCg>aTg	p.T26M	NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.T3M|EVI2A_ENST00000461237.1_Missense_Mutation_p.T3M	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	3						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTCCATGTCCGTGGGCATGCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											202	196	198			NA	NA	17		NA											NA				29646024		2203	4300	6503	SO:0001583	missense			M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860	2123	2123			3499	protein-coding gene	gene with protein product		158380		EVI2	NA	2117566	Standard	NM_014210	NM_014210	NA	Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000247270.3:c.77C>T	17.37:g.29646024G>A	ENSP00000247270:p.Thr26Met	NA	B2R5X2|B4DHX8	37	CCDS32608.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118278	0.06838	.	.	ENSG00000126860	ENST00000394755;ENST00000461237;ENST00000247270	.	.	.	5.6	-4.93	0.03066	.	0.975316	0.08382	N	0.954343	T	0.15392	0.0371	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.12013	0.003;0.005	B;B	0.11329	0.002;0.006	T	0.28299	-1.0048	9	0.17832	T	0.49	.	4.1869	0.10402	0.3857:0.1046:0.414:0.0957	.	3;26	P22794;P22794-2	EVI2A_HUMAN;.	M	3;3;26	.	ENSP00000247270:T26M	T	-	2	0	EVI2A	26670150	0.000000	0.05858	0.001000	0.08648	0.507000	0.33981	-0.955000	0.03869	-0.659000	0.05359	-0.238000	0.12139	ACG	EVI2A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354492.1		-	ENST00000247270.3	Missense_Mutation	SNP	17 : 29646024 - 29646024 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	1100	17
EWSR1	2130	broad.mit.edu	37	22	29695624	29695624	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:29695624C>T	ENST00000397938.2	+	16	2033	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	EWSR1_ENST00000331029.7_Missense_Mutation_p.R534W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R577W|EWSR1_ENST00000332050.6_Missense_Mutation_p.R499W|EWSR1_ENST00000332035.6_Missense_Mutation_p.R516W|EWSR1_ENST00000406548.1_Missense_Mutation_p.R571W	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	572	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	p.R572W(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGTGGCATGCGGGGAGGAAG	0.632		NA	T	FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1	Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		L, M	1	Substitution - Missense(1)	endometrium(1)											96	78	84			NA	NA	22		NA											NA				29695624		2203	4300	6503	SO:0001583	missense				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944	2130	2130		RNA binding motif (RRM) containing	3508	protein-coding gene	gene with protein product		133450	Ewing sarcoma breakpoint region 1		NA	1522903	Standard	NM_005243	NM_005243	NA	Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1714C>T	22.37:g.29695624C>T	ENSP00000381031:p.Arg572Trp	NA	Q5THL0|Q92635	37	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.964150|2.964150	0.53507|0.53507	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|D;D;D;D;D;D	.|0.97404	.|-4.28;-3.83;-3.93;-4.37;-3.96;-3.84	5.18|5.18	-0.132|-0.132	0.13489|0.13489	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.94032|0.94032	0.8088|0.8088	L|L	0.53249|0.53249	1.67|1.67	0.51233|0.51233	D|D	0.999913|0.999913	.|B;B;B;B;B	.|0.15473	.|0.004;0.013;0.013;0.013;0.013	.|B;B;B;B;B	.|0.06405	.|0.002;0.002;0.002;0.001;0.001	D|D	0.88555|0.88555	0.3119|0.3119	5|10	.|0.66056	.|D	.|0.02	.|.	9.693|9.693	0.40141|0.40141	0.4598:0.4707:0.0:0.0695|0.4598:0.4707:0.0:0.0695	.|.	.|516;571;516;577;572	.|Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.|.;.;.;.;EWS_HUMAN	V|W	223|499;572;571;534;577;516	.|ENSP00000330896:R499W;ENSP00000381031:R572W;ENSP00000385726:R571W;ENSP00000330516:R534W;ENSP00000400142:R577W;ENSP00000331699:R516W	.|ENSP00000330516:R534W	A|R	+|+	2|1	0|2	EWSR1|EWSR1	28025624|28025624	0.996000|0.996000	0.38824|0.38824	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	0.457000|0.457000	0.21875|0.21875	0.179000|0.179000	0.19938|0.19938	0.305000|0.305000	0.20034|0.20034	GCG|CGG	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321345.1		+	ENST00000397938.2	Missense_Mutation	SNP	22 : 29695624 - 29695624 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	191	4
FAM120C	54954	broad.mit.edu	37	X	54099471	54099471	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:54099471C>A	ENST00000375180.2	-	16	3342	c.3286G>T	c.(3286-3288)Gac>Tac	p.D1096Y	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1096										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTTATCAGTCCTCTTTCCGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	186	203			NA	NA	X		NA											NA				54099471		2203	4300	6503	SO:0001583	missense			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083	54954	54954			16949	protein-coding gene	gene with protein product		300741	chromosome X open reading frame 17	CXorf17	NA	14585507	Standard	NM_017848	XM_006724589	NA	Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.3286G>T	X.37:g.54099471C>A	ENSP00000364324:p.Asp1096Tyr	NA	B2RMT7	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579228	0.46006	.	.	ENSG00000184083	ENST00000375180	T	0.24908	1.83	4.52	2.74	0.32292	.	0.372810	0.22141	N	0.064050	T	0.18509	0.0444	N	0.08118	0	0.80722	D	1	D	0.53885	0.963	P	0.50708	0.648	T	0.05131	-1.0904	10	0.87932	D	0	.	8.735	0.34523	0.0:0.7975:0.0:0.2025	.	1096	Q9NX05	F120C_HUMAN	Y	1096	ENSP00000364324:D1096Y	ENSP00000364324:D1096Y	D	-	1	0	FAM120C	54116196	0.994000	0.37717	0.837000	0.33122	0.604000	0.37047	1.002000	0.29796	0.434000	0.26340	-0.192000	0.12808	GAC	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056795.2		-	ENST00000375180.2	Missense_Mutation	SNP	X : 54099471 - 54099471 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	968	265
FBXO18	84893	broad.mit.edu	37	10	5956233	5956233	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:5956233G>A	ENST00000379999.5	+	9	1653		c.e9+1		FBXO18_ENST00000362091.4_Splice_Site|FBXO18_ENST00000397269.3_Splice_Site	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	NA					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCCTTTGCCGGTAAGGGAGCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	10		NA											NA				5956233		2203	4300	6503	SO:0001630	splice_region_variant			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452	84893	84893		F-boxes /  other	13620	protein-coding gene	gene with protein product		607222	F-box only protein 18		NA	10531037, 11956208	Standard	NM_032807	NM_032807	NA	Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000379999.5:c.1549+1G>A	10.37:g.5956233G>A		NA	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	37	CCDS7073.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.655814	0.29425	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6551	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO18	5996239	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	8.218000	0.89768	2.496000	0.84212	0.561000	0.74099	.	FBXO18-010	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046597.1	Intron	+	ENST00000379999.5	Splice_Site	SNP	10 : 5956233 - 5956233 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	321	5
FOXN1	8456	broad.mit.edu	37	17	26851719	26851719	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:26851719G>A	ENST00000226247.2	+	2	351	c.322G>A	c.(322-324)Gca>Aca	p.A108T	FOXN1_ENST00000579795.1_Missense_Mutation_p.A108T	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	108					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGAGGAGGCCGCAGCAAGCAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	17		NA											NA				26851719		2202	4298	6500	SO:0001583	missense			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101	8456	8456		Forkhead boxes	12765	protein-coding gene	gene with protein product		600838	winged-helix nude, Rowett nude	WHN, RONU	NA	9321431	Standard		NM_003593	NA	Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.322G>A	17.37:g.26851719G>A	ENSP00000226247:p.Ala108Thr	NA	B2R9Q7|O15352	37	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775438	0.49786	.	.	ENSG00000109101	ENST00000226247	D	0.91894	-2.93	5.49	0.553	0.17235	.	0.444607	0.23141	N	0.051470	T	0.76969	0.4062	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63479	-0.6628	10	0.18276	T	0.48	.	6.5115	0.22224	0.117:0.3429:0.4602:0.0799	.	108	O15353	FOXN1_HUMAN	T	108	ENSP00000226247:A108T	ENSP00000226247:A108T	A	+	1	0	FOXN1	23875846	0.002000	0.14202	0.082000	0.20525	0.786000	0.44442	-0.092000	0.11129	0.034000	0.15491	-1.168000	0.01747	GCA	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255832.1		+	ENST00000226247.2	Missense_Mutation	SNP	17 : 26851719 - 26851719 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	166	4
GDF9	2661	broad.mit.edu	37	5	132199861	132199861	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:132199861C>T	ENST00000378673.2	-	2	1231	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Missense_Mutation_p.R122Q			O60383	GDF9_HUMAN	growth differentiation factor 9	122					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCTTGTGCCGGGTACAGGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	121	116			NA	NA	5		NA											NA				132199861		2203	4300	6503	SO:0001583	missense				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404	2661	2661		Endogenous ligands	4224	protein-coding gene	gene with protein product		601918			NA	7760846	Standard	NM_005260	NM_005260	NA	Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.365G>A	5.37:g.132199861C>T	ENSP00000367942:p.Arg122Gln	NA	Q4VAW5	37	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	C	6.477	0.456158	0.12283	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.57436	0.4;0.4	5.61	1.73	0.24493	.	0.400271	0.24909	N	0.034632	T	0.09024	0.0223	N	0.00025	-2.675	0.19775	N	0.999957	B	0.02656	0.0	B	0.01281	0.0	T	0.41142	-0.9525	10	0.06365	T	0.9	.	6.5274	0.22309	0.2293:0.0674:0.0:0.7032	.	122	O60383	GDF9_HUMAN	Q	122	ENSP00000367942:R122Q;ENSP00000296875:R122Q	ENSP00000296875:R122Q	R	-	2	0	GDF9	132227760	0.974000	0.33945	0.894000	0.35097	0.991000	0.79684	1.412000	0.34714	0.044000	0.15775	-0.294000	0.09567	CGG	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000133060.2		-	ENST00000378673.2	Missense_Mutation	SNP	5 : 132199861 - 132199861 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	651	8
GLTSCR2	29997	broad.mit.edu	37	19	48259965	48259965	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:48259965T>G	ENST00000246802.5	+	12	1432	c.1394T>G	c.(1393-1395)gTg>gGg	p.V465G	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	465				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		AAGTACAAGGTGAAGCTGGTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(58;613 1041 9473 10089 15241)							NA				0													63	62	62			NA	NA	19		NA											NA				48259965		2203	4300	6503	SO:0001583	missense			AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373	29997	29997			4333	protein-coding gene	gene with protein product		605691			NA	10708517, 16971513, 17657248	Standard	NM_015710	NM_015710	NA	Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1394T>G	19.37:g.48259965T>G	ENSP00000246802:p.Val465Gly	NA	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	37	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879942	0.72294	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.33438	1.41	4.79	3.73	0.42828	.	0.221650	0.37393	N	0.002114	T	0.35158	0.0922	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.16867	-1.0388	10	0.87932	D	0	-26.9135	8.437	0.32793	0.0:0.0:0.1978:0.8022	.	465	Q9NZM5	GSCR2_HUMAN	G	465;459;250	ENSP00000246802:V465G	ENSP00000246802:V465G	V	+	2	0	GLTSCR2	52951777	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.128000	0.50492	0.918000	0.36919	0.533000	0.62120	GTG	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464870.1		+	ENST00000246802.5	Missense_Mutation	SNP	19 : 48259965 - 48259965 G PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	327	55
GRM1	2911	broad.mit.edu	37	6	146351187	146351187	+	Silent	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:146351187C>T	ENST00000392299.2	+	2	1004	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRM1_ENST00000361719.2_Silent_p.F178F|GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000282753.1_Silent_p.F178F|GRM1_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000355289.4_Silent_p.F178F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	178					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCAGCTCTTCGACATCCCCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	84	84			NA	NA	6		NA											NA				146351187		2203	4300	6503	SO:0001819	synonymous_variant			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822	2911	2911		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4593	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 85	604473			NA	9076744, 9376535	Standard	NM_000838	NM_001278064	NA	Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000392299.2:c.534C>T	6.37:g.146351187C>T		NA	B9EG79|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	37	CCDS47497.1																																																																																			GRM1-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042575.2		+	ENST00000392299.2	Silent	SNP	6 : 146351187 - 146351187 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	610	212
HNRNPR	10236	broad.mit.edu	37	1	23648137	23648137	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:23648137C>T	ENST00000478691.1	-	6	663	c.392G>A	c.(391-393)cGc>cAc	p.R131H	HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232H|HNRNPR_ENST00000374612.1_Missense_Mutation_p.R232H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	232	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTACCAGGGCGAATTTCATA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	117	115			NA	NA	1		NA											NA				23648137		2203	4300	6503	SO:0001583	missense			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944	10236	10236		RNA binding motif (RRM) containing	5047	protein-coding gene	gene with protein product		607201		HNRPR	NA	9421497	Standard	NM_005826	XM_005245711	NA	Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000478691.1:c.392G>A	1.37:g.23648137C>T	ENSP00000474437:p.Arg131His	NA	Q5TEH1|Q9BV64	37		.	.	.	.	.	.	.	.	.	.	C	32	5.146399	0.94603	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.35789	1.94;1.92;1.92;1.29;2.77	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.60904	1.88	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.992;1.0	P;D;D;D;P;D	0.91635	0.826;0.999;0.999;0.996;0.877;0.993	T	0.60611	-0.7229	10	0.72032	D	0.01	-1.4045	16.9396	0.86213	0.0:1.0:0.0:0.0	.	72;194;93;209;232;232	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	H	232;232;232;194;72	ENSP00000363745:R232H;ENSP00000363741:R232H;ENSP00000304405:R232H;ENSP00000392799:R194H;ENSP00000415042:R72H	ENSP00000304405:R232H	R	-	2	0	HNRNPR	23520724	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.669000	0.83911	2.430000	0.82344	0.561000	0.74099	CGC	HNRNPR-004	PUTATIVE	non_canonical_conserved|upstream_uORF|basic	protein_coding	NA	protein_coding	OTTHUMT00000008890.2		-	ENST00000478691.1	Missense_Mutation	SNP	1 : 23648137 - 23648137 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	556	181
IRF5	3663	broad.mit.edu	37	7	128588348	128588348	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:128588348G>A	ENST00000402030.2	+	8	1289	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	IRF5_ENST00000357234.5_Missense_Mutation_p.R422H|IRF5_ENST00000477535.1_Missense_Mutation_p.R320H|IRF5_ENST00000473745.1_Missense_Mutation_p.R406H|IRF5_ENST00000249375.4_Missense_Mutation_p.R406H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	406					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGGCCTGACCGCAAACCCCGA	0.527		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	4e-04	SNP								NA				0													121	120	120			NA	NA	7		NA											NA				128588348		2203	4300	6503	SO:0001583	missense				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604	3663	3663			6120	protein-coding gene	gene with protein product		607218			NA		Standard	NM_001098627	XM_005250317	NA	Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1217G>A	7.37:g.128588348G>A	ENSP00000385352:p.Arg406His	NA	E7EQ16|Q64GB1|Q64GB2|Q9BQF0	37	CCDS5808.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.838	1.190210	0.21954	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51	5.39	-1.38	0.09027	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	1.924310	0.02538	N	0.094301	D	0.87581	0.6213	N	0.25647	0.755	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.73665	-0.3911	10	0.25106	T	0.35	-0.8749	0.5929	0.00731	0.2382:0.1348:0.2381:0.3889	.	320;406;422	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	H	422;320;406;406;406;396	ENSP00000349770:R422H;ENSP00000419950:R320H;ENSP00000385352:R406H;ENSP00000249375:R406H;ENSP00000419149:R406H	ENSP00000249375:R406H	R	+	2	0	IRF5	128375584	0.000000	0.05858	0.889000	0.34880	0.936000	0.57629	-1.254000	0.02874	-0.263000	0.09378	-0.311000	0.09066	CGC	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350934.1		+	ENST00000402030.2	Missense_Mutation	SNP	7 : 128588348 - 128588348 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	468	6
KMT2C	58508	broad.mit.edu	37	7	151921103	151921103	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:151921103T>C	ENST00000262189.6	-	20	3538	c.3320A>G	c.(3319-3321)gAt>gGt	p.D1107G	KMT2C_ENST00000355193.2_Missense_Mutation_p.D1107G	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						ACAATACCTATCACATTGTCT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	43	44			NA	NA	7		NA											NA				151921103		2203	4298	6501	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3320A>G	7.37:g.151921103T>C	ENSP00000262189:p.Asp1107Gly	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.202827	0.58234	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.63913	-0.07;-0.07	5.39	5.39	0.77823	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.47852	D	0.000208	T	0.76905	0.4053	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.903;0.998	T	0.79403	-0.1818	10	0.72032	D	0.01	.	10.6261	0.45508	0.1432:0.0:0.0:0.8568	.	1107;168	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	1107	ENSP00000262189:D1107G;ENSP00000347325:D1107G	ENSP00000262189:D1107G	D	-	2	0	MLL3	151552036	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	6.146000	0.71777	2.045000	0.60652	0.528000	0.53228	GAT	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151921103 - 151921103 C PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	311	87
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	162	29
KRT13	3860	broad.mit.edu	37	17	39661661	39661661	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39661661C>T	ENST00000246635.3	-	1	188	c.142G>A	c.(142-144)Ggc>Agc	p.G48S	KRT13_ENST00000336861.3_Missense_Mutation_p.G48S|KRT13_ENST00000587544.1_Missense_Mutation_p.G48S	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	48	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				cAGCTCACGCCGCCTCCATAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	115	114			NA	NA	17		NA											NA				39661661		2203	4300	6503	SO:0001583	missense				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401	3860	3860		-, Intermediate filaments type I, keratins (acidic)	6415	protein-coding gene	gene with protein product	keratin, type I cytoskeletal 13, cytokeratin 13	148065			NA	16831889	Standard	NM_153490	NM_153490	NA	Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.142G>A	17.37:g.39661661C>T	ENSP00000246635:p.Gly48Ser	NA	Q53G54|Q6AZK5|Q8N240	37	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	0.280	-0.987263	0.02180	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.89485	-2.52;-2.52	4.82	4.82	0.62117	.	0.134022	0.33457	N	0.004886	T	0.76586	0.4008	L	0.35341	1.055	0.09310	N	1	P;P;P	0.42871	0.697;0.697;0.792	B;B;B	0.32624	0.11;0.11;0.149	T	0.67795	-0.5578	10	0.07813	T	0.8	.	9.3512	0.38140	0.0:0.8545:0.0:0.1455	.	48;48;48	P13646-2;P13646-3;P13646	.;.;K1C13_HUMAN	S	48	ENSP00000246635:G48S;ENSP00000336604:G48S	ENSP00000157775:G48S	G	-	1	0	KRT13	36915187	0.006000	0.16342	0.312000	0.25196	0.027000	0.11550	0.771000	0.26633	2.509000	0.84616	0.655000	0.94253	GGC	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257297.1		-	ENST00000246635.3	Missense_Mutation	SNP	17 : 39661661 - 39661661 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	356	9
LYG1	129530	broad.mit.edu	37	2	99907775	99907775	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:99907775G>A	ENST00000409448.1	-	6	574	c.258C>T	c.(256-258)atC>atT	p.I86I	LYG1_ENST00000308528.4_Silent_p.I86I			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	86					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGACACCAGCGATCACGGCAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	145	156			NA	NA	2		NA											NA				99907775		2203	4300	6503	SO:0001819	synonymous_variant			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214	129530	129530			27014	protein-coding gene	gene with protein product					NA	12574869	Standard	NM_174898	NM_174898	NA	Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.258C>T	2.37:g.99907775G>A		NA	Q53RV9	37	CCDS2043.1																																																																																			LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330315.1		-	ENST00000409448.1	Silent	SNP	2 : 99907775 - 99907775 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	439	106
MEGF8	1954	broad.mit.edu	37	19	42862961	42862961	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:42862961G>A	ENST00000334370.4	+	29	5632	c.4997G>A	c.(4996-4998)cGt>cAt	p.R1666H	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1733H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1733						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGAATGTGCGTGGCTCATCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	63	57	59		4997	0.5	0	19		59	0,8598		0,0,4299	no	missense	MEGF8	NM_001410.2	29	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	1666/2779	42862961	1,13003	2203	4299	6502	SO:0001583	missense			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	1954	1954			3233	protein-coding gene	gene with protein product	HBV pre s2 binding protein 1	604267	EGF-like-domain, multiple 4, chromosome 19 open reading frame 49	EGFL4, C19orf49	NA	9693030	Standard	NM_001410	NM_001410	NA	Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000334370.4:c.4997G>A	19.37:g.42862961G>A	ENSP00000334219:p.Arg1666His	NA	A8KAY0|O75097	37	CCDS12604.2	.	.	.	.	.	.	.	.	.	.	G	4.386	0.071245	0.08436	2.27E-4	0.0	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	2.71	0.483	0.16820	Galactose oxidase/kelch, beta-propeller (1);	.	.	.	.	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	P;B	0.36660	0.564;0.127	B;B	0.26517	0.03;0.07	T	0.27706	-1.0066	9	0.21540	T	0.41	1.3309	3.1445	0.06467	0.1486:0.0:0.5888:0.2626	.	1733;1666	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	1666;1733	ENSP00000334219:R1666H;ENSP00000251268:R1733H	ENSP00000251268:R1733H	R	+	2	0	MEGF8	47554801	0.001000	0.12720	0.000000	0.03702	0.088000	0.18126	0.661000	0.25023	0.208000	0.20626	0.462000	0.41574	CGT	MEGF8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317695.1		+	ENST00000334370.4	Missense_Mutation	SNP	19 : 42862961 - 42862961 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	100	22
OGFR	11054	broad.mit.edu	37	20	61444809	61444809	+	Silent	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:61444809A>G	ENST00000370461.1	+	5	3963	c.1686A>G	c.(1684-1686)ccA>ccG	p.P562P	OGFR_ENST00000290291.6_Silent_p.P614P			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	614	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGGACGAGCCAGCCGAGAGCC	0.756		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				61444809		1785	3645	5430	SO:0001819	synonymous_variant			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491	11054	11054			15768	protein-coding gene	gene with protein product		606459			NA	10677613	Standard		NM_007346	NA	Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000370461.1:c.1686A>G	20.37:g.61444809A>G		NA	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	37																																																																																				OGFR-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000080068.1		+	ENST00000370461.1	Silent	SNP	20 : 61444809 - 61444809 G PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	152	7
OPN1LW	5956	broad.mit.edu	37	X	153420210	153420210	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:153420210G>C	ENST00000369951.4	+	4	800	c.740G>C	c.(739-741)cGa>cCa	p.R247P	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	247					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCCATCCGAGCGGTAAGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	141	158			NA	NA	X		NA											NA				153420210		2186	4245	6431	SO:0001583	missense			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076	5956	5956		GPCR / Class A : Opsin receptors	9936	protein-coding gene	gene with protein product	cone dystrophy 5 (X-linked)	300822	color blindness, protan, red cone photoreceptor pigment	CBBM, RCP, CBP	NA		Standard	NM_020061	NM_020061	NA	Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.740G>C	X.37:g.153420210G>C	ENSP00000358967:p.Arg247Pro	NA		37	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940087	0.52972	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.44083	0.93;0.93	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.064338	0.64402	D	0.000007	T	0.51227	0.1662	M	0.86343	2.81	0.47862	D	0.999536	B	0.25955	0.138	B	0.26969	0.075	T	0.60414	-0.7268	10	0.72032	D	0.01	.	15.1182	0.72419	0.0:0.0:1.0:0.0	.	247	P04000	OPSR_HUMAN	P	247;110	ENSP00000358967:R247P;ENSP00000402493:R110P	ENSP00000358967:R247P	R	+	2	0	OPN1LW	153073404	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	5.820000	0.69250	1.888000	0.54679	0.372000	0.22366	CGA	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000082839.2		+	ENST00000369951.4	Missense_Mutation	SNP	X : 153420210 - 153420210 C PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	1492	33
OR2Y1	134083	broad.mit.edu	37	5	180166493	180166493	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:180166493G>A	ENST00000307832.2	-	1	606	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTGTCCGCACAAGCCAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	70	74			NA	NA	5		NA											NA				180166493		2203	4300	6503	SO:0001583	missense			AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339	134083	134083		GPCR / Class A : Olfactory receptors	14837	protein-coding gene	gene with protein product					NA		Standard	XM_068682	NM_001001657	NA	Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.566C>T	5.37:g.180166493G>A	ENSP00000312403:p.Ala189Val	NA	B9EIP1|Q6IFB1|Q96R16	37	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	0.125	-1.120816	0.01785	.	.	ENSG00000174339	ENST00000307832	T	0.00137	8.68	4.41	-8.81	0.00813	GPCR, rhodopsin-like superfamily (1);	2.447600	0.01860	N	0.036546	T	0.00039	0.0001	N	0.02685	-0.53	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45891	-0.9230	10	0.02654	T	1	.	1.5139	0.02502	0.3935:0.1488:0.3068:0.1509	.	189	Q8NGV0	OR2Y1_HUMAN	V	189	ENSP00000312403:A189V	ENSP00000312403:A189V	A	-	2	0	OR2Y1	180099099	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.460000	0.06720	-1.715000	0.01389	-1.294000	0.01345	GCG	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368059.2		-	ENST00000307832.2	Missense_Mutation	SNP	5 : 180166493 - 180166493 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	369	6
PASK	23178	broad.mit.edu	37	2	242066535	242066535	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:242066535C>T	ENST00000403638.3	-	10	1886	c.1795G>A	c.(1795-1797)Ggt>Agt	p.G599S	PASK_ENST00000358649.4_Missense_Mutation_p.G599S|PASK_ENST00000405260.1_Missense_Mutation_p.G599S|PASK_ENST00000544142.1_Missense_Mutation_p.G413S|PASK_ENST00000539818.1_Missense_Mutation_p.G383S|PASK_ENST00000234040.4_Missense_Mutation_p.G599S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	599					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCCAGCTGACCCTTGGCCTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	37	35			NA	NA	2		NA											NA				242066535		2201	4295	6496	SO:0001583	missense			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687	23178	23178			17270	protein-coding gene	gene with protein product		607505			NA	11688972, 11459942, 15148392	Standard	NM_015148	NM_001252119	NA	Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000403638.3:c.1795G>A	2.37:g.242066535C>T	ENSP00000384438:p.Gly599Ser	NA	Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	37	CCDS58758.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009368	0.35415	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.72167	-0.63;-0.62;-0.63;-0.58;-0.6;0.26	4.63	2.74	0.32292	.	0.226096	0.30732	N	0.008999	T	0.63307	0.2500	L	0.34521	1.04	0.09310	N	1	B;D;B;D;B	0.61697	0.214;0.99;0.319;0.977;0.214	B;P;B;P;B	0.51806	0.056;0.68;0.121;0.566;0.056	T	0.54316	-0.8312	10	0.49607	T	0.09	.	5.8111	0.18467	0.0:0.7558:0.0:0.2442	.	564;413;599;599;599	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	S	599;413;599;599;383;599	ENSP00000234040:G599S;ENSP00000441374:G413S;ENSP00000384016:G599S;ENSP00000351475:G599S;ENSP00000443083:G383S;ENSP00000384438:G599S	ENSP00000234040:G599S	G	-	1	0	PASK	241715208	0.000000	0.05858	0.033000	0.17914	0.044000	0.14063	0.026000	0.13599	1.211000	0.43351	0.561000	0.74099	GGT	PASK-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323752.1		-	ENST00000403638.3	Missense_Mutation	SNP	2 : 242066535 - 242066535 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	575	53
PREX1	57580	broad.mit.edu	37	20	47309258	47309258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:47309258G>A	ENST00000371941.3	-	8	1010	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PREX1_ENST00000396220.1_Nonsense_Mutation_p.R330*	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	330	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTGTTGATTCGACCCCTGAAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	182	199			NA	NA	20		NA											NA				47309258		2203	4300	6503	SO:0001587	stop_gained			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126	57580	57580		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	32594	protein-coding gene	gene with protein product		606905			NA	11955434, 15545267, 16301320	Standard	NM_020820	NM_020820	NA	Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.988C>T	20.37:g.47309258G>A	ENSP00000361009:p.Arg330*	NA	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	37	6.315272	0.97467	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	.	.	.	5.22	5.22	0.72569	.	0.000000	0.46145	U	0.000302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0674	0.64839	0.0:0.0:0.8494:0.1506	.	.	.	.	X	330	.	ENSP00000361009:R330X	R	-	1	2	PREX1	46742665	1.000000	0.71417	0.768000	0.31515	0.923000	0.55619	3.913000	0.56394	2.601000	0.87937	0.650000	0.86243	CGA	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079623.1		-	ENST00000371941.3	Nonsense_Mutation	SNP	20 : 47309258 - 47309258 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	516	105
RTN4R	65078	broad.mit.edu	37	22	20229361	20229361	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:20229361C>T	ENST00000043402.7	-	2	1733	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	432					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCCTGCCTGGCCCAGACGGCA	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	9	9			NA	NA	22		NA											NA				20229361		2114	4160	6274	SO:0001583	missense			AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608	65078	65078			18601	protein-coding gene	gene with protein product		605566			NA	11201742	Standard		NM_023004	NA	Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.1295G>A	22.37:g.20229361C>T	ENSP00000043402:p.Gly432Asp	NA	D3DX28	37	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.541897|2.541897	0.45280|0.45280	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000416372;ENST00000425986|ENST00000043402	.|T	.|0.62105	.|0.05	3.35|3.35	2.31|2.31	0.28768|0.28768	.|.	.|.	.|.	.|.	.|.	T|T	0.58524|0.58524	0.2128|0.2128	L|L	0.39898|0.39898	1.24|1.24	0.36293|0.36293	D|D	0.856517|0.856517	.|D	.|0.69078	.|0.997	.|P	.|0.55011	.|0.766	T|T	0.59215|0.59215	-0.7496|-0.7496	5|9	.|0.25106	.|T	.|0.35	.|.	6.5148|6.5148	0.22242|0.22242	0.0:0.8615:0.0:0.1385|0.0:0.8615:0.0:0.1385	.|.	.|432	.|Q9BZR6	.|RTN4R_HUMAN	T|D	452;518|432	.|ENSP00000043402:G432D	.|ENSP00000043402:G432D	A|G	-|-	1|2	0|0	RTN4R|RTN4R	18609361|18609361	0.057000|0.057000	0.20700|0.20700	0.998000|0.998000	0.56505|0.56505	0.878000|0.878000	0.50629|0.50629	0.829000|0.829000	0.27449|0.27449	0.740000|0.740000	0.32651|0.32651	0.305000|0.305000	0.20034|0.20034	GCC|GGC	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318950.2		-	ENST00000043402.7	Missense_Mutation	SNP	22 : 20229361 - 20229361 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	93	23
SAMD9	54809	broad.mit.edu	37	7	92732859	92732859	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:92732859A>G	ENST00000379958.2	-	3	2821	c.2552T>C	c.(2551-2553)aTt>aCt	p.I851T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	851						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTACGGCAATACTGTCTGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	63			NA	NA	7		NA											NA				92732859		2203	4297	6500	SO:0001583	missense			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413	54809	54809		Sterile alpha motif (SAM) domain containing	1348	protein-coding gene	gene with protein product		610456	chromosome 7 open reading frame 5	C7orf5	NA		Standard	NM_017654	NM_017654	NA	Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2552T>C	7.37:g.92732859A>G	ENSP00000369292:p.Ile851Thr	NA	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	7.577	0.668027	0.14710	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	D;D	0.81499	-1.5;-1.5	4.32	4.32	0.51571	.	0.103207	0.41294	U	0.000918	T	0.76730	0.4028	M	0.65975	2.015	0.26245	N	0.978804	B	0.33694	0.421	B	0.28139	0.086	T	0.73898	-0.3837	10	0.87932	D	0	-2.2486	12.4185	0.55508	1.0:0.0:0.0:0.0	.	851	Q5K651	SAMD9_HUMAN	T	851	ENSP00000369292:I851T;ENSP00000414529:I851T	ENSP00000369292:I851T	I	-	2	0	SAMD9	92570795	0.022000	0.18835	0.116000	0.21606	0.070000	0.16714	2.972000	0.49256	1.813000	0.52934	0.496000	0.49642	ATT	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341761.1		-	ENST00000379958.2	Missense_Mutation	SNP	7 : 92732859 - 92732859 G PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	487	112
SCD5	79966	broad.mit.edu	37	4	83601872	83601872	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:83601872C>T	ENST00000319540.4	-	3	876	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	SCD5_ENST00000273908.4_Missense_Mutation_p.R186Q	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	186					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCTCTGGATCCGGACCACAGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	81			NA	NA	4		NA											NA				83601872		2203	4300	6503	SO:0001583	missense			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284	79966	79966		Fatty acid desaturases	21088	protein-coding gene	gene with protein product		608370	stearoyl-CoA desaturase 4	SCD4	NA	12477932	Standard	NM_024906	NM_024906	NA	Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.557G>A	4.37:g.83601872C>T	ENSP00000316329:p.Arg186Gln	NA	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	37	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603393	0.46423	.	.	ENSG00000145284	ENST00000319540;ENST00000273908	T;T	0.13538	2.58;2.58	5.34	-3.29	0.05017	Fatty acid desaturase, type 1 (1);	0.274691	0.36034	N	0.002837	T	0.05135	0.0137	L	0.31664	0.95	0.54753	D	0.99998	P;B	0.41265	0.744;0.104	B;B	0.30401	0.115;0.025	T	0.42965	-0.9420	10	0.39692	T	0.17	-11.999	1.765	0.03000	0.1963:0.3386:0.0973:0.3678	.	186;186	Q86SK9-2;Q86SK9	.;SCD5_HUMAN	Q	186	ENSP00000316329:R186Q;ENSP00000273908:R186Q	ENSP00000273908:R186Q	R	-	2	0	SCD5	83820896	0.809000	0.29036	0.950000	0.38849	0.985000	0.73830	0.050000	0.14120	-0.917000	0.03813	0.591000	0.81541	CGG	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252635.1		-	ENST00000319540.4	Missense_Mutation	SNP	4 : 83601872 - 83601872 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	407	86
SH3TC1	54436	broad.mit.edu	37	4	8218705	8218705	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:8218705C>G	ENST00000245105.3	+	7	717	c.650C>G	c.(649-651)cCt>cGt	p.P217R	SH3TC1_ENST00000539824.1_Missense_Mutation_p.P141R	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	217							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GTCCTGTGTCCTGACCACCAT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(145;2298 2623 35616 37297)							NA				0													108	94	99			NA	NA	4		NA											NA				8218705		2203	4300	6503	SO:0001583	missense			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089	54436	54436		Tetratricopeptide (TTC) repeat domain containing	26009	protein-coding gene	gene with protein product					NA		Standard	NM_018986	NM_018986	NA	Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.650C>G	4.37:g.8218705C>G	ENSP00000245105:p.Pro217Arg	NA	Q4W5G5	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057449	0.36277	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.76186	-1.0;-0.99;0.19	3.92	3.06	0.35304	.	0.353893	0.25523	N	0.030088	T	0.79240	0.4412	L	0.43152	1.355	0.34759	D	0.732591	D	0.62365	0.991	D	0.66847	0.947	D	0.83857	0.0266	10	0.72032	D	0.01	-1.8145	11.6341	0.51194	0.0:0.8195:0.1805:0.0	.	217	Q8TE82	S3TC1_HUMAN	R	217;141;46;26	ENSP00000245105:P217R;ENSP00000441045:P141R;ENSP00000426035:P26R	ENSP00000245105:P217R	P	+	2	0	SH3TC1	8269605	1.000000	0.71417	0.973000	0.42090	0.376000	0.30014	2.970000	0.49240	0.617000	0.30160	0.313000	0.20887	CCT	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206991.2		+	ENST00000245105.3	Missense_Mutation	SNP	4 : 8218705 - 8218705 G PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	535	91
SLC2A2	6514	broad.mit.edu	37	3	170723136	170723136	+	Nonsense_Mutation	SNP	G	G	A	rs121909743		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:170723136G>A	ENST00000314251.3	-	7	980	c.901C>T	c.(901-903)Cga>Tga	p.R301*	SLC2A2_ENST00000382808.4_Nonsense_Mutation_p.R182*	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	301					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.R301*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATAGGCTGTCGGTAGCTGGAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)	GRCh37	CM971382	SLC2A2	M	rs121909743						201	182	189			NA	NA	3		NA											NA				170723136		2203	4300	6503	SO:0001587	stop_gained			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581	6514	6514		Solute carriers	11006	protein-coding gene	gene with protein product		138160		GLUT2	NA	1852621	Standard	NM_000340	NM_000340	NA	Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.901C>T	3.37:g.170723136G>A	ENSP00000323568:p.Arg301*	NA	A8K481|B2R936|Q9UCW9	37	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930078	0.52759	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	.	.	.	5.53	2.71	0.32032	.	0.053497	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9913	0.41872	0.0638:0.0:0.5056:0.4306	.	.	.	.	X	301;182	.	ENSP00000323568:R301X	R	-	1	2	SLC2A2	172205830	1.000000	0.71417	0.209000	0.23619	0.110000	0.19582	1.608000	0.36847	0.357000	0.24183	0.591000	0.81541	CGA	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352834.1		-	ENST00000314251.3	Nonsense_Mutation	SNP	3 : 170723136 - 170723136 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	441	10
SLC7A2	6542	broad.mit.edu	37	8	17412559	17412559	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:17412559T>G	ENST00000470360.1	+	9	1397	c.1280T>G	c.(1279-1281)gTt>gGt	p.V427G	SLC7A2_ENST00000398090.3_Missense_Mutation_p.V427G|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Intron|SLC7A2_ENST00000494857.1_Intron			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	388					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGTCACCAGTTGCTGCCACG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	152	156			NA	NA	8		NA											NA				17412559		2203	4300	6503	SO:0001583	missense			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989	6542	6542		Solute carriers	11060	protein-coding gene	gene with protein product		601872		ATRC2	NA	8954799	Standard	NM_003046	NM_001164771	NA	Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000470360.1:c.1280T>G	8.37:g.17412559T>G	ENSP00000419873:p.Val427Gly	NA	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	37	CCDS6002.2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378903	0.82682	.	.	ENSG00000003989	ENST00000470360;ENST00000398090	D;D	0.90955	-2.76;-2.76	5.15	5.15	0.70609	.	0.388539	0.26951	N	0.021677	D	0.87943	0.6305	.	.	.	0.58432	D	0.99999	B	0.33739	0.422	B	0.31245	0.126	D	0.88418	0.3026	9	0.87932	D	0	.	15.2847	0.73819	0.0:0.0:0.0:1.0	.	427	P52569-2	.	G	427	ENSP00000419873:V427G;ENSP00000381164:V427G	ENSP00000381164:V427G	V	+	2	0	SLC7A2	17456851	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.997000	0.88414	2.085000	0.62840	0.377000	0.23210	GTT	SLC7A2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253368.3		+	ENST00000470360.1	Missense_Mutation	SNP	8 : 17412559 - 17412559 G PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	847	233
SULT4A1	25830	broad.mit.edu	37	22	44237769	44237769	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:44237769G>A	ENST00000330884.4	-	2	333	c.213C>T	c.(211-213)ggC>ggT	p.G71G	SULT4A1_ENST00000249130.5_Silent_p.G71G|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	71					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGGGGTCAGCGCCCTGGCTCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	54			NA	NA	22		NA											NA				44237769		2203	4300	6503	SO:0001819	synonymous_variant			AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540	25830	25830		Sulfotransferases, cytosolic	14903	protein-coding gene	gene with protein product		608359			NA	10698717	Standard	NM_014351	NM_014351	NA	Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.213C>T	22.37:g.44237769G>A		NA	B2R7N3|O43728	37	CCDS14051.1																																																																																			SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280660.2		-	ENST00000330884.4	Silent	SNP	22 : 44237769 - 44237769 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	366	50
SUSD1	64420	broad.mit.edu	37	9	114911537	114911537	+	Silent	SNP	G	G	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:114911537G>T	ENST00000374270.3	-	3	532	c.360C>A	c.(358-360)ggC>ggA	p.G120G	SUSD1_ENST00000374264.2_Silent_p.G120G|SUSD1_ENST00000374263.3_Silent_p.G120G	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	120						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TACAAAAGGTGCCATCGTTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													306	286	293			NA	NA	9		NA											NA				114911537		2203	4300	6503	SO:0001819	synonymous_variant			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868	64420	64420			25413	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_022486	NM_022486	NA	Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.360C>A	9.37:g.114911537G>T		NA	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	37	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	G	9.466	1.094271	0.20471	.	.	ENSG00000106868	ENST00000355396	.	.	.	5.23	4.34	0.51931	.	.	.	.	.	T	0.63873	0.2548	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62296	-0.6884	4	.	.	.	-25.4964	12.7168	0.57119	0.0814:0.0:0.9186:0.0	.	.	.	.	N	104	.	.	H	-	1	0	SUSD1	113951358	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.281000	0.43452	1.205000	0.43262	0.655000	0.94253	CAC	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053668.3		-	ENST00000374270.3	Silent	SNP	9 : 114911537 - 114911537 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	1475	473
TAF5L	27097	broad.mit.edu	37	1	229750171	229750171	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:229750171C>T	ENST00000366675.3	-	2	147	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	TAF5L_ENST00000366676.1_Missense_Mutation_p.R20Q|TAF5L_ENST00000258281.2_Missense_Mutation_p.R20Q|TAF5L_ENST00000366674.1_Missense_Mutation_p.R20Q|TAF5L_ENST00000477957.1_5'UTR	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	20					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGTACTGCCGGCGTTTGAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	94	100			NA	NA	1		NA											NA				229750171		2203	4300	6503	SO:0001583	missense			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801	27097	27097		WD repeat domain containing	17304	protein-coding gene	gene with protein product	PCAF associated factor 65 beta		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD		NA	9674425, 11124703	Standard	NM_014409	XM_005273100	NA	Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366675.3:c.59G>A	1.37:g.229750171C>T	ENSP00000355635:p.Arg20Gln	NA	Q5TDI5|Q5TDI6|Q8IW31	37	CCDS31051.1	.	.	.	.	.	.	.	.	.	.	C	36	5.878785	0.97055	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675;ENST00000366674	T;T;T	0.66460	-0.21;-0.21;0.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.61275	0.572;0.886	T	0.77776	-0.2461	9	.	.	.	-20.2862	20.0015	0.97412	0.0:1.0:0.0:0.0	.	20;20	O75529-2;O75529	.;TAF5L_HUMAN	Q	20	ENSP00000355636:R20Q;ENSP00000258281:R20Q;ENSP00000355635:R20Q	.	R	-	2	0	TAF5L	227816794	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.752000	0.68728	2.732000	0.93576	0.563000	0.77884	CGG	TAF5L-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095230.1		-	ENST00000366675.3	Missense_Mutation	SNP	1 : 229750171 - 229750171 T PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	437	93
TENM3	55714	broad.mit.edu	37	4	183714508	183714508	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:183714508G>A	ENST00000511685.1	+	26	6806	c.6683G>A	c.(6682-6684)cGt>cAt	p.R2228H	TENM3_ENST00000406950.2_Missense_Mutation_p.R2228H					teneurin transmembrane protein 3	NA								p.R2228H(1)			NA						GTGATCTACCGTTATGACGGC	0.463		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9135	EXOME	NA	NA	0.0045	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)											78	80	79			NA	NA	4		NA											NA				183714508		1898	4121	6019	SO:0001583	missense			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6683G>A	4.37:g.183714508G>A	ENSP00000424226:p.Arg2228His	NA		37	CCDS47165.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.04	1.242130	0.22796	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86694	-2.16;-2.16	4.65	4.65	0.58169	.	.	.	.	.	D	0.93223	0.7841	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.91401	0.5143	9	0.15952	T	0.53	.	17.7429	0.88412	0.0:0.0:1.0:0.0	.	2228	Q9P273	TEN3_HUMAN	H	2228	ENSP00000424226:R2228H;ENSP00000385276:R2228H	ENSP00000385276:R2228H	R	+	2	0	ODZ3	183951502	1.000000	0.71417	0.900000	0.35374	0.648000	0.38561	7.767000	0.85331	2.417000	0.82017	0.563000	0.77884	CGT	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Missense_Mutation	SNP	4 : 183714508 - 183714508 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	353	77
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:129370592T>A	ENST00000432054.2	-	4	1673	c.722A>T	c.(721-723)cAg>cTg	p.Q241L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000393238.3_Missense_Mutation_p.Q565L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L			O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	3		NA											NA				129370592		2203	4300	6503	SO:0001583	missense			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765	23023	23023		Transmembrane and coiled-coil domain containing	29116	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 1		NA	9872452	Standard	NM_015008	NR_033361	NA	Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000432054.2:c.722A>T	3.37:g.129370592T>A	ENSP00000404711:p.Gln241Leu	NA	Q68E06|Q8IXM8	37		.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG	TMCC1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356323.4		-	ENST00000432054.2	Missense_Mutation	SNP	3 : 129370592 - 129370592 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	412	6
TOX2	84969	broad.mit.edu	37	20	42680013	42680013	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:42680013G>A	ENST00000358131.5	+	4	714	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TOX2_ENST00000341197.4_Missense_Mutation_p.R160H|TOX2_ENST00000423191.2_Missense_Mutation_p.R118H|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.R118H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCTGGGTCGCCCGGCAATG	0.647		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	0.0124	SNP								NA				0													23	25	25			NA	NA	20		NA											NA				42680013		2201	4298	6499	SO:0001583	missense			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20			84969	84969			16095	protein-coding gene	gene with protein product	granulosa cell HMG box 1	611163	chromosome 20 open reading frame 100	C20orf100	NA	14764631	Standard		NM_001098796	NA	Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.506G>A	20.37:g.42680013G>A	ENSP00000350849:p.Arg169His	NA	Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	37	CCDS42875.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.49	2.847712	0.51164	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T;T	0.32515	2.66;1.45;2.68;2.68;2.46;2.42	5.76	4.81	0.61882	.	0.172966	0.52532	D	0.000077	T	0.49064	0.1535	L	0.52905	1.665	0.49582	D	0.999809	B;D;B;D;D	0.89917	0.154;1.0;0.089;0.999;1.0	B;D;B;P;D	0.83275	0.025;0.996;0.01;0.908;0.991	T	0.37641	-0.9697	10	0.22706	T	0.39	.	15.2536	0.73568	0.0:0.0:0.8586:0.1414	.	38;160;118;169;118	B4DQV8;G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;.;TOX2_HUMAN;.	H	160;118;118;118;169;38	ENSP00000344724:R160H;ENSP00000396584:R118H;ENSP00000390278:R118H;ENSP00000362090:R118H;ENSP00000350849:R169H;ENSP00000396777:R38H	ENSP00000344724:R160H	R	+	2	0	TOX2	42113427	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	4.308000	0.59129	1.406000	0.46857	-0.181000	0.13052	CGC	TOX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079329.2		+	ENST00000358131.5	Missense_Mutation	SNP	20 : 42680013 - 42680013 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	294	75
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:7578550G>A	ENST00000420246.2	-	5	512	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)		GAGGGCAGGGGAGTACTGTAG	0.552		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	73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(1)											44	44	44			NA	NA	17		NA											NA				7578550		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.380C>T	17.37:g.7578550G>A	ENSP00000391127:p.Ser127Phe	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	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338648	0.81911	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4	5.48	4.51	0.55191	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127F;ENSP00000352610:S127F;ENSP00000269305:S127F;ENSP00000398846:S127F;ENSP00000391127:S127F;ENSP00000391478:S127F;ENSP00000423862:S34F;ENSP00000424104:S127F;ENSP00000426252:S127F	ENSP00000269305:S127F	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578550 - 7578550 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	171	62
TRIM58	25893	broad.mit.edu	37	1	248023988	248023988	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:248023988G>A	ENST00000366481.3	+	2	538	c.490G>A	c.(490-492)Gtg>Atg	p.V164M		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	164						intracellular	zinc ion binding	p.V164L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGCCAACGTGGGGAAAAA	0.478		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0	0	EXOME	NA	NA	8e-04	SNP								NA				1	Substitution - Missense(1)	lung(1)						G	MET/VAL	0,4406		0,0,2203	106	105	106		490	2.1	0.4	1		106	3,8597	3.0+/-9.4	0,3,4297	no	missense	TRIM58	NM_015431.3	21	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	benign	164/487	248023988	3,13003	2203	4300	6503	SO:0001583	missense			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722	25893	25893		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	24150	protein-coding gene	gene with protein product			tripartite motif-containing 58		NA		Standard	NM_015431	NM_015431	NA	Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.490G>A	1.37:g.248023988G>A	ENSP00000355437:p.Val164Met	NA	Q6B0H9	37	CCDS1636.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.615	-0.289792	0.05568	0.0	3.49E-4	ENSG00000162722	ENST00000366481	T	0.61510	0.1	4.02	2.13	0.27403	.	0.287861	0.24601	N	0.037136	T	0.43055	0.1230	L	0.46157	1.445	0.23210	N	0.998114	B	0.28512	0.214	B	0.17433	0.018	T	0.32981	-0.9886	10	0.49607	T	0.09	.	5.6579	0.17652	0.1092:0.2001:0.6907:0.0	.	164	Q8NG06	TRI58_HUMAN	M	164	ENSP00000355437:V164M	ENSP00000355437:V164M	V	+	1	0	TRIM58	246090611	0.045000	0.20229	0.400000	0.26346	0.001000	0.01503	0.046000	0.14035	0.467000	0.27218	-0.150000	0.13652	GTG	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096860.1		+	ENST00000366481.3	Missense_Mutation	SNP	1 : 248023988 - 248023988 A PAAD-TCGA-HZ-A77O-Tumor-SM-5437E	298	68
