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
ACADSB	36	broad.mit.edu	37	10	124797320	124797320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:124797320C>A	ENST00000368869.4	+	3	249				ACADSB_ENST00000358776.4_Nonsense_Mutation_p.S87*|ACADSB_ENST00000496730.2_3'UTR			P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	NA					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	p.S87L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GATGAAAATTCGAAAATGGAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											87	99	95			NA	NA	10		NA											NA				124797320		2203	4296	6499	SO:0001627	intron_variant			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	36	36	1.3.99.-		91	protein-coding gene	gene with protein product		600301	acyl-Coenzyme A dehydrogenase, short/branched chain		NA	7698750, 7759115	Standard	NM_001609	NM_001609	NA	Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000368869.4:c.-3-2662C>A	10.37:g.124797320C>A		NA	Q96CX7	37		.	.	.	.	.	.	.	.	.	.	C	33	5.221647	0.95139	.	.	ENSG00000196177	ENST00000358776	.	.	.	5.93	5.01	0.66863	.	0.132878	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	16.3753	0.83383	0.133:0.867:0.0:0.0	.	.	.	.	X	87	.	ENSP00000357873:S87X	S	+	2	0	ACADSB	124787310	0.964000	0.33143	0.998000	0.56505	0.979000	0.70002	4.641000	0.61375	1.466000	0.48025	0.655000	0.94253	TCG	ACADSB-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402204.1		+	ENST00000368869.4	Intron	SNP	10 : 124797320 - 124797320 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	682	10
ACO1	48	broad.mit.edu	37	9	32408531	32408531	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:32408531G>T	ENST00000309951.6	+	4	424	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000379923.1_Missense_Mutation_p.D96Y	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	NA					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGCTGTGGTTGACTTTGCTGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	149	153			NA	NA	9		NA											NA				32408531		2203	4300	6503	SO:0001583	missense			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	48	48	4.2.1.3		117	protein-coding gene	gene with protein product	aconitate hydratase, cytoplasmic	100880		IREB1	NA	2172968, 2771641	Standard	NM_002197	NM_002197	NA	Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.286G>T	9.37:g.32408531G>T	ENSP00000309477:p.Asp96Tyr	NA	D3DRK7|Q14652|Q5VZA7	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699540	0.88830	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921	T;T	0.49720	0.77;0.77	5.96	5.96	0.96718	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89212	0.3565	10	0.87932	D	0	-8.9451	19.1796	0.93617	0.0:0.0:1.0:0.0	.	96	P21399	ACOC_HUMAN	Y	132;96;96;96	ENSP00000309477:D96Y;ENSP00000369255:D96Y	ENSP00000309477:D96Y	D	+	1	0	ACO1	32398531	1.000000	0.71417	0.996000	0.52242	0.884000	0.51177	9.809000	0.99208	2.814000	0.96858	0.655000	0.94253	GAC	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051998.3		+	ENST00000309951.6	Missense_Mutation	SNP	9 : 32408531 - 32408531 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	512	10
ACOT4	122970	broad.mit.edu	37	14	74060538	74060538	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:74060538C>A	ENST00000326303.4	+	2	844	c.590C>A	c.(589-591)cCc>cAc	p.P197H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	197					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAAGATCTCCCCAATAACATG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	148	151			NA	NA	14		NA											NA				74060538		2203	4300	6503	SO:0001583	missense			BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465	122970	122970		Acyl CoA thioesterases	19748	protein-coding gene	gene with protein product		614314			NA	16103133, 16940157	Standard	NM_152331	NM_152331	NA	Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.590C>A	14.37:g.74060538C>A	ENSP00000323071:p.Pro197His	NA	Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	37	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295226	0.60086	.	.	ENSG00000177465	ENST00000326303	T	0.50277	0.75	5.15	5.15	0.70609	.	0.053368	0.85682	D	0.000000	T	0.76564	0.4005	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.83418	0.0031	10	0.87932	D	0	-8.5859	13.022	0.58794	0.0:0.9195:0.0:0.0805	.	197	Q8N9L9	ACOT4_HUMAN	H	197	ENSP00000323071:P197H	ENSP00000323071:P197H	P	+	2	0	ACOT4	73130291	0.997000	0.39634	0.887000	0.34795	0.487000	0.33371	4.982000	0.63825	2.394000	0.81467	0.491000	0.48974	CCC	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404298.2		+	ENST00000326303.4	Missense_Mutation	SNP	14 : 74060538 - 74060538 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	780	10
ACSL6	23305	broad.mit.edu	37	5	131323807	131323807	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:131323807G>T	ENST00000379244.1	-	7	926	c.690C>A	c.(688-690)ttC>ttA	p.F230L	ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L|ACSL6_ENST00000379240.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L|ACSL6_ENST00000379264.2_Missense_Mutation_p.F255L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	230					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTTCTTCGAATGGGTCCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													307	281	290			NA	NA	5		NA											NA				131323807		2203	4300	6503	SO:0001583	missense			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398	23305	23305		Acyl-CoA synthetase family	16496	protein-coding gene	gene with protein product		604443	fatty-acid-Coenzyme A ligase, long-chain 6	FACL6	NA	10502316, 10548543	Standard	NM_015256	NM_015256	NA	Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379244.1:c.690C>A	5.37:g.131323807G>T	ENSP00000368546:p.Phe230Leu	NA	O94924|O95829|Q108M9|Q108N0|Q86TN7	37	CCDS56381.1	.	.	.	.	.	.	.	.	.	.	g	7.687	0.690340	0.15039	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.92	-11.8	0.00035	AMP-dependent synthetase/ligase (1);	0.095334	0.85682	D	0.000000	T	0.20536	0.0494	N	0.17312	0.475	0.30886	N	0.730933	B;B;B;B;B;B;B	0.22909	0.063;0.005;0.007;0.077;0.005;0.005;0.005	B;B;B;B;B;B;B	0.35353	0.127;0.014;0.015;0.201;0.009;0.014;0.014	T	0.40001	-0.9586	10	0.19147	T	0.46	.	18.3368	0.90291	0.7201:0.0:0.2185:0.0614	.	230;245;220;230;195;255;255	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	L	230;255;245;195;195;255;241;230;139;230;210;230;195	ENSP00000368551:F230L;ENSP00000368566:F255L;ENSP00000368574:F245L;ENSP00000349608:F195L;ENSP00000368557:F195L;ENSP00000296869:F255L;ENSP00000368548:F241L;ENSP00000368546:F230L;ENSP00000445154:F139L;ENSP00000368542:F230L;ENSP00000413329:F210L;ENSP00000442124:F230L;ENSP00000397507:F195L	ENSP00000296869:F255L	F	-	3	2	ACSL6	131351706	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.418000	0.02462	-3.672000	0.00123	-3.369000	0.00041	TTC	ACSL6-008	NOVEL	not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132626.1		-	ENST00000379244.1	Missense_Mutation	SNP	5 : 131323807 - 131323807 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	877	13
ADAMTS1	9510	broad.mit.edu	37	21	28212612	28212612	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:28212612C>A	ENST00000284984.3	-	5	2102	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	NA	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGCTTTCTGTCGGTTTTGTTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	95	97			NA	NA	21		NA											NA				28212612		2203	4300	6503	SO:0001583	missense			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734	9510	9510		ADAM metallopeptidases with thrombospondin type 1 motif	217	protein-coding gene	gene with protein product		605174	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1		NA	10438512	Standard		NM_006988	NA	Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1648G>T	21.37:g.28212612C>A	ENSP00000284984:p.Asp550Tyr	NA	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649884	0.87958	.	.	ENSG00000154734	ENST00000284984	T	0.63744	-0.06	5.13	5.13	0.70059	.	.	.	.	.	T	0.73489	0.3593	L	0.58302	1.8	0.80722	D	1	D	0.55605	0.972	P	0.57152	0.814	T	0.75534	-0.3284	9	0.72032	D	0.01	.	19.128	0.93393	0.0:1.0:0.0:0.0	.	550	Q9UHI8	ATS1_HUMAN	Y	550	ENSP00000284984:D550Y	ENSP00000284984:D550Y	D	-	1	0	ADAMTS1	27134483	0.993000	0.37304	0.987000	0.45799	0.985000	0.73830	2.920000	0.48844	2.824000	0.97209	0.655000	0.94253	GAC	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171650.2		-	ENST00000284984.3	Missense_Mutation	SNP	21 : 28212612 - 28212612 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	479	7
ADAMTS20	80070	broad.mit.edu	37	12	43825211	43825211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:43825211G>T	ENST00000389420.3	-	22	3184	c.3185C>A	c.(3184-3186)tCa>tAa	p.S1062*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1062	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTGGTACTTGAATTACAGAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	145	152			NA	NA	12		NA											NA				43825211		2203	4300	6503	SO:0001587	stop_gained			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157	80070	80070		ADAM metallopeptidases with thrombospondin type 1 motif	17178	protein-coding gene	gene with protein product		611681	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20		NA	12514189, 12562771	Standard	NM_025003	NM_025003	NA	Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3185C>A	12.37:g.43825211G>T	ENSP00000374071:p.Ser1062*	NA	A6NNC9	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	g	37	6.446143	0.97572	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	3.97	3.06	0.35304	.	0.504438	0.16887	N	0.195457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.0962	0.30829	0.253:0.0:0.747:0.0	.	.	.	.	X	1062;228;216;1062;1062	.	ENSP00000374068:S1062X	S	-	2	0	ADAMTS20	42111478	0.973000	0.33851	0.280000	0.24747	0.557000	0.35523	1.659000	0.37387	2.140000	0.66376	0.651000	0.88453	TCA	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403643.1		-	ENST00000389420.3	Nonsense_Mutation	SNP	12 : 43825211 - 43825211 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	493	9
AGO4	192670	broad.mit.edu	37	1	36291547	36291547	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:36291547C>A	ENST00000373210.3	+	6	891	c.646C>A	c.(646-648)Cgg>Agg	p.R216R		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4	NA											NA						TGCTTTCTACCGGGCTCAGCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	184	184			NA	NA	1		NA											NA				36291547		2203	4300	6503	SO:0001819	synonymous_variant			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698	192670	192670		Argonaute/PIWI family	18424	protein-coding gene	gene with protein product	argonaute 4	607356	eukaryotic translation initiation factor 2C, 4	EIF2C4	NA	12906857	Standard	NM_017629	NM_017629	NA	Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.646C>A	1.37:g.36291547C>A		NA		37	CCDS397.1																																																																																			AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012213.3		+	ENST00000373210.3	Silent	SNP	1 : 36291547 - 36291547 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	930	10
AHNAK	79026	broad.mit.edu	37	11	62297572	62297572	+	Missense_Mutation	SNP	G	G	T	rs141288622	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:62297572G>T	ENST00000378024.4	-	5	4591	c.4317C>A	c.(4315-4317)ttC>ttA	p.F1439L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1439					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCATCTTGAATTTGGGAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	213	210			NA	NA	11		NA											NA				62297572		2202	4299	6501	SO:0001583	missense			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4317C>A	11.37:g.62297572G>T	ENSP00000367263:p.Phe1439Leu	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	9.761	1.170168	0.21621	.	.	ENSG00000124942	ENST00000378024	T	0.11821	2.74	4.32	-2.06	0.07298	.	.	.	.	.	T	0.24890	0.0604	M	0.76170	2.325	0.33910	D	0.639632	D	0.61697	0.99	P	0.59424	0.857	T	0.45469	-0.9259	9	0.10377	T	0.69	.	11.3291	0.49467	0.4092:0.0:0.5908:0.0	.	1439	Q09666	AHNK_HUMAN	L	1439	ENSP00000367263:F1439L	ENSP00000367263:F1439L	F	-	3	2	AHNAK	62054148	0.032000	0.19561	0.851000	0.33527	0.106000	0.19336	-0.846000	0.04336	-0.357000	0.08175	-0.387000	0.06579	TTC	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62297572 - 62297572 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1018	14
AHSA2	130872	broad.mit.edu	37	2	61412663	61412663	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:61412663G>T	ENST00000394457.3	+	4	1845	c.102G>T	c.(100-102)ctG>ctT	p.L34L	AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Silent_p.L34L|AHSA2_ENST00000357022.2_Silent_p.L34L			Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	NA					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CAGTGGCACTGGGTGTAAGGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	147	152			NA	NA	2		NA											NA				61412663		2203	4300	6503	SO:0001819	synonymous_variant			AK092817	CCDS1868.1	2p14	2008-02-05			ENSG00000173209	ENSG00000173209	130872	130872			20437	protein-coding gene	gene with protein product					NA	12504007	Standard	NM_152392	NM_152392	NA	Approved	DKFZp564C236, Hch1	uc002sbc.2	Q719I0	OTTHUMG00000129437	ENST00000394457.3:c.102G>T	2.37:g.61412663G>T		NA	B3KS51|D6W5E0|Q8NDU5	37	CCDS1868.1																																																																																			AHSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251598.4		+	ENST00000394457.3	Silent	SNP	2 : 61412663 - 61412663 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	547	10
AKAP13	11214	broad.mit.edu	37	15	86128981	86128981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:86128981C>A	ENST00000394518.2	+	8	4183	c.4088C>A	c.(4087-4089)tCa>tAa	p.S1363*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1363					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCAAGTTCAATTTCTGAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(94;603 1453 3280 32295 32951)							NA				0													112	107	108			NA	NA	15		NA											NA				86128981		2202	4299	6501	SO:0001587	stop_gained			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776	11214	11214		A-kinase anchor proteins, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	371	protein-coding gene	gene with protein product		604686	lymphoid blast crisis oncogene	LBC	NA	9627117, 1860836	Standard	NM_007200	NM_007200	NA	Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4088C>A	15.37:g.86128981C>A	ENSP00000378026:p.Ser1363*	NA	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	42	9.723090	0.99248	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	.	.	.	5.77	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9761	0.35937	0.0:0.8295:0.0:0.1705	.	.	.	.	X	1363;1363;1362;1362	.	ENSP00000354718:S1363X	S	+	2	0	AKAP13	83929985	0.001000	0.12720	0.003000	0.11579	0.539000	0.34962	0.903000	0.28475	0.796000	0.33947	0.591000	0.81541	TCA	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417318.1		+	ENST00000394518.2	Nonsense_Mutation	SNP	15 : 86128981 - 86128981 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	380	9
AMPH	273	broad.mit.edu	37	7	38471789	38471789	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38471789C>T	ENST00000356264.2	-	13	1373	c.1158G>A	c.(1156-1158)acG>acA	p.T386T	AMPH_ENST00000428293.2_Splice_Site_p.T386T|AMPH_ENST00000325590.5_Splice_Site_p.T386T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	386					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.T386T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGTGGCTTACCGTCCATAGGT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											106	108	108			NA	NA	7		NA											NA				38471789		2203	4300	6503	SO:0001630	splice_region_variant				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053	273	273			471	protein-coding gene	gene with protein product		600418	amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen), amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)		NA	8245793	Standard	NM_001635	NM_139316	NA	Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1158+1G>A	7.37:g.38471789C>T		NA	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409493	0.42715	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.55	4.67	0.58626	.	.	.	.	.	T	0.70168	0.3193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69250	-0.5194	4	.	.	.	-16.0735	14.2603	0.66080	0.0:0.9282:0.0:0.0718	.	.	.	.	N	137	.	.	D	-	1	0	AMPH	38438314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.749000	0.47492	1.336000	0.45506	0.655000	0.94253	GAC	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226953.2	Silent	-	ENST00000356264.2	Splice_Site	SNP	7 : 38471789 - 38471789 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	593	66
ANGPTL7	10218	broad.mit.edu	37	1	11252368	11252368	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:11252368C>A	ENST00000376819.3	+	2	657	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	140	Fibrinogen C-terminal.		R -> H (in dbSNP:rs28991002).		response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAACTACCGCATCTCTGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	160	173			NA	NA	1		NA											NA				11252368		2203	4300	6503	SO:0001583	missense			Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819	10218	10218		Fibrinogen C domain containing	24078	protein-coding gene	gene with protein product					NA	9727400, 11682471	Standard	NM_021146	NM_021146	NA	Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.418C>A	1.37:g.11252368C>A	ENSP00000366015:p.Arg140Ser	NA	B2R9B2|Q4ZGK4	37	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828114	0.50845	.	.	ENSG00000171819	ENST00000376819	T	0.76578	-1.03	6.17	5.26	0.73747	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.369397	0.31624	N	0.007340	T	0.62514	0.2434	L	0.39692	1.235	0.43080	D	0.994731	P	0.43662	0.814	B	0.36464	0.225	T	0.61797	-0.6989	10	0.08179	T	0.78	.	9.13	0.36839	0.2506:0.6827:0.0:0.0667	.	140	O43827	ANGL7_HUMAN	S	140	ENSP00000366015:R140S	ENSP00000366015:R140S	R	+	1	0	ANGPTL7	11174955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	1.626000	0.50381	0.655000	0.94253	CGC	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005564.1		+	ENST00000376819.3	Missense_Mutation	SNP	1 : 11252368 - 11252368 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	911	10
ANK2	287	broad.mit.edu	37	4	114274328	114274328	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:114274328C>A	ENST00000357077.4	+	38	4607	c.4554C>A	c.(4552-4554)acC>acA	p.T1518T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1485					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAAATGACCGCCATCTTGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	76	76			NA	NA	4		NA											NA				114274328		2203	4300	6503	SO:0001819	synonymous_variant			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4554C>A	4.37:g.114274328C>A		NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1																																																																																			ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Silent	SNP	4 : 114274328 - 114274328 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	522	9
ANKEF1	63926	broad.mit.edu	37	20	10025144	10025144	+	Missense_Mutation	SNP	G	G	T	rs139520957	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:10025144G>T	ENST00000378380.3	+	4	978	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	ANKEF1_ENST00000378392.1_Missense_Mutation_p.D217Y|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1	NA											NA						ATTTGACAACGACAGGCATCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													228	205	213			NA	NA	20		NA											NA				10025144		2203	4300	6503	SO:0001583	missense			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623	63926	63926		EF-hand domain containing, Ankyrin repeat domain containing	15803	protein-coding gene	gene with protein product			ankyrin repeat domain 5	ANKRD5	NA	17142250	Standard	NM_022096	NM_022096	NA	Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.649G>T	20.37:g.10025144G>T	ENSP00000367631:p.Asp217Tyr	NA		37	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349970	0.41599	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.67698	-0.28;-0.28	5.34	4.39	0.52855	Ankyrin repeat-containing domain (3);	0.544786	0.22457	N	0.059809	T	0.66167	0.2762	L	0.39692	1.235	0.29151	N	0.878367	P	0.49253	0.921	P	0.49887	0.625	T	0.64445	-0.6406	10	0.48119	T	0.1	-1.6673	14.3094	0.66405	0.0717:0.0:0.9283:0.0	.	217	Q9NU02	ANKR5_HUMAN	Y	217	ENSP00000367644:D217Y;ENSP00000367631:D217Y	ENSP00000367631:D217Y	D	+	1	0	ANKRD5	9973144	0.999000	0.42202	0.089000	0.20774	0.105000	0.19272	4.505000	0.60421	1.395000	0.46643	0.655000	0.94253	GAC	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077968.2		+	ENST00000378380.3	Missense_Mutation	SNP	20 : 10025144 - 10025144 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	675	12
ANKRD12	23253	broad.mit.edu	37	18	9275594	9275594	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:9275594C>A	ENST00000262126.4	+	11	6076	c.5836C>A	c.(5836-5838)Caa>Aaa	p.Q1946K	ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q1923K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1923K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	NA						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTGGCAAATCAAACACTGCC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	161	166			NA	NA	18		NA											NA				9275594		2203	4300	6503	SO:0001583	missense			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745	23253	23253		Ankyrin repeat domain containing	29135	protein-coding gene	gene with protein product		610616			NA	10048485	Standard	NM_015208	NM_001204056	NA	Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5836C>A	18.37:g.9275594C>A	ENSP00000262126:p.Gln1946Lys	NA	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535525	0.96460	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.70869	-0.52;-0.52	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	M	0.79123	2.44	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72982	0.979;0.952	D	0.85713	0.1320	10	0.87932	D	0	-16.6689	20.5211	0.99222	0.0:1.0:0.0:0.0	.	1923;1946	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	K	1923;1946	ENSP00000372932:Q1923K;ENSP00000262126:Q1946K	ENSP00000262126:Q1946K	Q	+	1	0	ANKRD12	9265594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.861000	0.98227	0.650000	0.86243	CAA	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254478.2		+	ENST00000262126.4	Missense_Mutation	SNP	18 : 9275594 - 9275594 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	994	14
ANXA11	311	broad.mit.edu	37	10	81930605	81930605	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:81930605T>C	ENST00000438331.1	-	5	604	c.122A>G	c.(121-123)aAc>aGc	p.N41S	ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	41					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	p.N41I(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTGGCCACGTTATCCAGCCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											73	65	67			NA	NA	10		NA											NA				81930605		2203	4300	6503	SO:0001583	missense			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359	311	311		Annexins	535	protein-coding gene	gene with protein product		602572		ANX11	NA	7508441, 9503022	Standard	NM_145869	NM_001157	NA	Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.122A>G	10.37:g.81930605T>C	ENSP00000398610:p.Asn41Ser	NA		37	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921685	0.33908	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.02280	4.55;4.55;4.55;4.55;4.55;4.55;4.36	4.69	4.69	0.59074	.	3.387150	0.00706	N	0.000810	T	0.06735	0.0172	N	0.22421	0.69	0.45066	D	0.998081	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.935;0.935	T	0.52124	-0.8617	10	0.08381	T	0.77	.	12.4176	0.55502	0.0:0.0:0.0:1.0	.	141;41;41	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	S	41;41;41;41;41;41;41;8;41;41	ENSP00000361305:N41S;ENSP00000404412:N41S;ENSP00000398610:N41S;ENSP00000353827:N41S;ENSP00000265447:N41S;ENSP00000441748:N41S;ENSP00000441400:N8S	ENSP00000265447:N41S	N	-	2	0	ANXA11	81920585	1.000000	0.71417	0.992000	0.48379	0.096000	0.18686	4.811000	0.62606	1.886000	0.54624	0.364000	0.22116	AAC	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049044.1		-	ENST00000438331.1	Missense_Mutation	SNP	10 : 81930605 - 81930605 C PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	329	21
AP1B1	162	broad.mit.edu	37	22	29763226	29763226	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:29763226C>A	ENST00000317368.7	-	2	193	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000432560.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000402502.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000405198.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000357586.2_Missense_Mutation_p.D3Y	NM_001166019.1	NP_001159491	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	3					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TATTTTGAGTCAGTCATTTTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	96	97			NA	NA	22		NA											NA				29763226		2203	4297	6500	SO:0001583	missense			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280	162	162			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2	NA	7987321, 8812422	Standard	NM_001127	NM_145730	NA	Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000317368.7:c.7G>T	22.37:g.29763226C>A	ENSP00000319361:p.Asp3Tyr	NA	C9JRD1|P78436|Q20WL3	37	CCDS54515.1	.	.	.	.	.	.	.	.	.	.	c	26.1	4.704187	0.88924	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000421126	T;T;T;T;T;T;T	0.42131	1.05;1.1;1.07;1.05;0.98;1.07;1.24	5.63	5.63	0.86233	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.965;0.988;0.997;0.997	T	0.71543	-0.4561	10	0.87932	D	0	-36.2579	17.1792	0.86850	0.0:1.0:0.0:0.0	.	3;3;3;3	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	Y	3	ENSP00000350199:D3Y;ENSP00000348297:D3Y;ENSP00000400065:D3Y;ENSP00000384194:D3Y;ENSP00000319361:D3Y;ENSP00000386071:D3Y;ENSP00000400022:D3Y	ENSP00000319361:D3Y	D	-	1	0	AP1B1	28093226	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.417000	0.80156	2.654000	0.90174	0.651000	0.88453	GAC	AP1B1-002	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321375.1		-	ENST00000317368.7	Missense_Mutation	SNP	22 : 29763226 - 29763226 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	373	9
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	prostate(2)											74	81	78			NA	NA	1		NA											NA				114442814		2203	4300	6503	SO:0001583	missense			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262	10717	10717			572	protein-coding gene	gene with protein product	beta 4 subunit of AP-4	607245	spastic paraplegia 47	SPG47	NA	10066790	Standard	NM_006594	NM_006594	NA	Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.826C>T	1.37:g.114442814G>A	ENSP00000358582:p.Arg276Trp	NA	Q59EJ4|Q96CL6	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	AP4B1	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033037.1		-	ENST00000369569.1	Missense_Mutation	SNP	1 : 114442814 - 114442814 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	336	6
ARHGAP15	55843	broad.mit.edu	37	2	144314047	144314047	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:144314047C>A	ENST00000295095.6	+	11	1163	c.996C>A	c.(994-996)gtC>gtA	p.V332V	RP11-570L15.2_ENST00000546678.1_RNA|RP11-570L15.1_ENST00000553076.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	332	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATTTATTGTCAACCAAGGTA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	171	169			NA	NA	2		NA											NA				144314047		2203	4297	6500	SO:0001819	synonymous_variant			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884	55843	55843		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	21030	protein-coding gene	gene with protein product		610578			NA	12650940, 11042152	Standard	NM_018460	NM_018460	NA	Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.996C>A	2.37:g.144314047C>A		NA	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	37	CCDS2184.1																																																																																			ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254793.2		+	ENST00000295095.6	Silent	SNP	2 : 144314047 - 144314047 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	807	15
ARHGAP24	83478	broad.mit.edu	37	4	86852189	86852189	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:86852189C>A	ENST00000264343.4	+	1	764	c.106C>A	c.(106-108)Cgg>Agg	p.R36R	ARHGAP24_ENST00000503995.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000395184.1_Intron	NM_031305.2	NP_112595.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	129	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTAGTTTTCGGAAAGGTAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	4		NA											NA				86852189		2203	4300	6503	SO:0001819	synonymous_variant			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639	83478	83478		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	25361	protein-coding gene	gene with protein product		610586			NA	11230166, 15254788	Standard	NM_031305	NM_001042669	NA	Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000264343.4:c.106C>A	4.37:g.86852189C>A		NA	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	37	CCDS3611.1																																																																																			ARHGAP24-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252816.1		+	ENST00000264343.4	Silent	SNP	4 : 86852189 - 86852189 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	300	8
ASB15	142685	broad.mit.edu	37	7	123269090	123269090	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:123269090G>A	ENST00000451558.1	+	12	1563	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ASB15_ENST00000540573.1_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N|ASB15_ENST00000275699.3_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAGCTATGACGATGAGAGGAA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	161	167			NA	NA	7		NA											NA				123269090		2203	4300	6503	SO:0001583	missense			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809	142685	142685		Ankyrin repeat domain containing	19767	protein-coding gene	gene with protein product			ankyrin repeat and SOCS box-containing 15		NA	12076535	Standard		XM_005250149	NA	Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1042G>A	7.37:g.123269090G>A	ENSP00000397655:p.Asp348Asn	NA	Q3ZCP3|Q3ZCP5|Q68D37	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286594	0.95517	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	N	0.11789	0.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12477	-1.0546	10	0.26408	T	0.33	-59.0637	20.8794	0.99867	0.0:0.0:1.0:0.0	.	348	Q8WXK1	ASB15_HUMAN	N	348;348;348;348;137;348	ENSP00000397655:D348N;ENSP00000390963:D348N;ENSP00000416433:D348N;ENSP00000438643:D348N;ENSP00000275699:D348N	ENSP00000275699:D348N	D	+	1	0	ASB15	123056326	1.000000	0.71417	0.606000	0.28943	0.963000	0.63663	9.461000	0.97646	2.941000	0.99782	0.655000	0.94253	GAT	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347493.1		+	ENST00000451558.1	Missense_Mutation	SNP	7 : 123269090 - 123269090 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	732	86
ASH1L	55870	broad.mit.edu	37	1	155448756	155448756	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:155448756C>A	ENST00000368346.3	-	3	4544	c.3905G>T	c.(3904-3906)cGg>cTg	p.R1302L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1302					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGAGTGATCCGAATTTCACT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	105	103			NA	NA	1		NA											NA				155448756		2203	4300	6503	SO:0001583	missense			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539	55870	55870		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	19088	protein-coding gene	gene with protein product		607999			NA	10860993, 16545939	Standard	NM_018489	NM_018489	NA	Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3905G>T	1.37:g.155448756C>A	ENSP00000357330:p.Arg1302Leu	NA	Q59GP1|Q5T714|Q5T715|Q9P2C7	37		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816696	0.70912	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91068	-2.78;-2.78	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.91199	0.7227	L	0.29908	0.895	0.80722	D	1	D;D	0.63046	0.987;0.992	D;D	0.72982	0.953;0.979	D	0.92702	0.6175	10	0.87932	D	0	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	1302;1302	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	1302	ENSP00000357330:R1302L;ENSP00000376204:R1302L	ENSP00000357330:R1302L	R	-	2	0	ASH1L	153715380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.555000	0.86185	0.591000	0.81541	CGG	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039400.1		-	ENST00000368346.3	Missense_Mutation	SNP	1 : 155448756 - 155448756 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	560	10
ATP7A	538	broad.mit.edu	37	X	77298876	77298876	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:77298876G>T	ENST00000341514.6	+	21	4222	c.4067G>T	c.(4066-4068)cGg>cTg	p.R1356L	ATP7A_ENST00000350425.4_Missense_Mutation_p.R359L|ATP7A_ENST00000343533.5_Missense_Mutation_p.R1278L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1356					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAGAGGATTCGGATAAATTTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	148	149			NA	NA	X		NA											NA				77298876		2203	4299	6502	SO:0001583	missense			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	538	538	3.6.3.4	ATPases / P-type	869	protein-coding gene	gene with protein product	copper pump 1, copper-transporting ATPase 1	300011	Menkes syndrome	MNK	NA	10079817	Standard	NM_000052	NM_000052	NA	Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4067G>T	X.37:g.77298876G>T	ENSP00000345728:p.Arg1356Leu	NA	B1AT72|O00227|O00745|Q9BYY8	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296577	0.81025	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.99239	-5.61;-5.61;-5.61	5.41	5.41	0.78517	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.65320	2	0.80722	D	1	D	0.60160	0.987	P	0.57846	0.828	D	0.99853	1.1074	10	0.87932	D	0	-22.2346	18.1943	0.89815	0.0:0.0:1.0:0.0	.	1356	Q04656	ATP7A_HUMAN	L	1278;359;1356	ENSP00000343026:R1278L;ENSP00000343678:R359L;ENSP00000345728:R1356L	ENSP00000345728:R1356L	R	+	2	0	ATP7A	77185532	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.545000	0.82128	2.234000	0.73211	0.600000	0.82982	CGG	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057306.1		+	ENST00000341514.6	Missense_Mutation	SNP	X : 77298876 - 77298876 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	841	11
ATPAF1	64756	broad.mit.edu	37	1	47101584	47101584	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:47101584C>A	ENST00000576409.1	-	9	982	c.920G>T	c.(919-921)cGg>cTg	p.R307L	ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L|ATPAF1_ENST00000371937.4_Missense_Mutation_p.R284L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	284					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GGTCTCTTTCCGATCAGTAGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(138;107 1777 21672 30337 52312)							NA				0													219	218	219			NA	NA	1		NA											NA				47101584		2203	4300	6503	SO:0001583	missense			AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472	64756	64756		Mitochondrial respiratory chain complex assembly factors	18803	protein-coding gene	gene with protein product		608917			NA	11410595	Standard	NM_022745	NM_022745	NA	Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000576409.1:c.920G>T	1.37:g.47101584C>A	ENSP00000460964:p.Arg307Leu	NA	B1AQW7|Q9H6E3	37	CCDS541.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.059769|3.059769	0.55325|0.55325	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000534216|ENST00000371937;ENST00000492233;ENST00000526821;ENST00000542495;ENST00000329231;ENST00000532925	.|T	.|0.46063	.|0.88	6.02|6.02	4.17|4.17	0.49024|0.49024	.|.	.|0.145674	.|0.64402	.|D	.|0.000009	.|T	.|0.54415	.|0.1857	M|M	0.68952|0.68952	2.095|2.095	0.48341|0.48341	D|D	0.999639|0.999639	.|P;D;P	.|0.71674	.|0.867;0.998;0.943	.|P;D;P	.|0.71870	.|0.483;0.975;0.718	.|T	.|0.58451	.|-0.7634	.|10	.|0.02654	.|T	.|1	-10.3176|-10.3176	12.6294|12.6294	0.56649|0.56649	0.0:0.8673:0.0:0.1327|0.0:0.8673:0.0:0.1327	.|.	.|196;216;284	.|B7Z7I6;A8MRA7;Q5TC12	.|.;.;ATPF1_HUMAN	X|L	139|284;88;130;133;216;196	.|ENSP00000361005:R284L	.|ENSP00000330685:R216L	G|R	-|-	1|2	0|0	ATPAF1|ATPAF1	46874171|46874171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.569000|5.569000	0.67391|0.67391	0.885000|0.885000	0.36088|0.36088	-0.145000|-0.145000	0.13849|0.13849	GGA|CGG	ATPAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021920.2		-	ENST00000576409.1	Missense_Mutation	SNP	1 : 47101584 - 47101584 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	926	10
ATRX	546	broad.mit.edu	37	X	76939312	76939312	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:76939312G>T	ENST00000373344.5	-	9	1650	c.1436C>A	c.(1435-1437)cCa>cAa	p.P479Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.P441Q	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	479					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCCTCTGTTGGAACATTCTG	0.368		NA	Mis, F, N		Pancreatic neuroendocrine tumors, paediatric GBM		ATR-X (alpha thalassemia/mental retardation) syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											193	196	195			NA	NA	X		NA											NA				76939312		2203	4295	6498	SO:0001583	missense			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224	546	546			886	protein-coding gene	gene with protein product	RAD54 homolog (S. cerevisiae)	300032	alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog), Juberg-Marsidi syndrome	RAD54, JMS	NA	7874112, 1415255, 8503439, 8630485	Standard	NM_000489	NM_000489	NA	Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1436C>A	X.37:g.76939312G>T	ENSP00000362441:p.Pro479Gln	NA	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	3.654	-0.071015	0.07228	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91843	-2.92;-2.92	4.81	3.94	0.45596	.	1.154860	0.06338	U	0.707442	D	0.91637	0.7357	L	0.44542	1.39	0.80722	D	1	P;P;B;B	0.45212	0.612;0.853;0.429;0.303	B;P;B;B	0.47528	0.278;0.549;0.186;0.091	T	0.81050	-0.1108	10	0.33141	T	0.24	1.7015	12.5503	0.56223	0.0841:0.0:0.9159:0.0	.	479;440;441;479	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Q	479;441;435	ENSP00000362441:P479Q;ENSP00000378967:P441Q	ENSP00000362441:P479Q	P	-	2	0	ATRX	76825968	0.362000	0.24980	0.054000	0.19295	0.875000	0.50365	1.948000	0.40303	0.822000	0.34565	0.509000	0.49947	CCA	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058860.2		-	ENST00000373344.5	Missense_Mutation	SNP	X : 76939312 - 76939312 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1717	14
B4GALT2	8704	broad.mit.edu	37	1	44455983	44455983	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:44455983C>A	ENST00000356836.6	+	7	1772	c.982C>A	c.(982-984)Caa>Aaa	p.Q328K	B4GALT2_ENST00000372324.1_Missense_Mutation_p.Q328K|B4GALT2_ENST00000434555.2_Missense_Mutation_p.Q262K|B4GALT2_ENST00000309519.7_Missense_Mutation_p.Q357K	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	328					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TACCAAGATTCAAAACACGAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	259	250			NA	NA	1		NA											NA				44455983		2203	4300	6503	SO:0001583	missense			AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411	8704	8704		Beta 4-glycosyltransferases	925	protein-coding gene	gene with protein product		604013			NA	9405390, 9597550	Standard	NM_003780	NM_003780	NA	Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.982C>A	1.37:g.44455983C>A	ENSP00000349293:p.Gln328Lys	NA	B3KTP0|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	37	CCDS506.1	.	.	.	.	.	.	.	.	.	.	C	5.578	0.291477	0.10567	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.3	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	L	0.37630	1.12	0.54753	D	0.999985	B;B;B	0.24882	0.013;0.113;0.069	B;B;B	0.26517	0.004;0.07;0.032	T	0.04650	-1.0936	10	0.05721	T	0.95	-5.8311	15.6663	0.77234	0.1383:0.8617:0.0:0.0	.	357;262;328	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	K	328;262;328;357	ENSP00000361399:Q328K;ENSP00000407468:Q262K;ENSP00000349293:Q328K;ENSP00000310696:Q357K	ENSP00000310696:Q357K	Q	+	1	0	B4GALT2	44228570	0.962000	0.33011	1.000000	0.80357	0.990000	0.78478	1.823000	0.39062	1.356000	0.45884	0.543000	0.68304	CAA	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022840.1		+	ENST00000356836.6	Missense_Mutation	SNP	1 : 44455983 - 44455983 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1226	14
BLM	641	broad.mit.edu	37	15	91306341	91306341	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:91306341C>A	ENST00000560509.1	+	8	2079	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	BLM_ENST00000355112.3_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR			P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	676	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGAGGCGATCAATGCTGCAC	0.363		NA	Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0													118	123	121			NA	NA	15		NA											NA				91306341		2198	4298	6496	SO:0001819	synonymous_variant	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299	641	641			1058	protein-coding gene	gene with protein product		604610	Bloom syndrome		NA	9388193	Standard		NM_000057	NA	Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000560509.1:c.2028C>A	15.37:g.91306341C>A		NA	Q52M96	37																																																																																				BLM-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000417940.1		+	ENST00000560509.1	Silent	SNP	15 : 91306341 - 91306341 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	704	13
BNC1	646	broad.mit.edu	37	15	83926420	83926420	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:83926420G>A	ENST00000569704.1	-	5	2844	c.2738C>T	c.(2737-2739)gCt>gTt	p.A913V	BNC1_ENST00000345382.2_Missense_Mutation_p.A920V|RP11-382A20.4_ENST00000565495.1_RNA			Q01954	BNC1_HUMAN	basonuclin 1	920					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGCAGGCTAGCAAGGCTCTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	200	202			NA	NA	15		NA											NA				83926420		2203	4300	6503	SO:0001583	missense			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594	646	646		Zinc fingers, C2H2-type	1081	protein-coding gene	gene with protein product		601930	basonuclin	BNC	NA	1332044	Standard	NM_001717	NM_001717	NA	Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000569704.1:c.2738C>T	15.37:g.83926420G>A	ENSP00000456727:p.Ala913Val	NA	Q15840	37		.	.	.	.	.	.	.	.	.	.	G	11.04	1.520519	0.27211	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44083	0.93	5.93	4.99	0.66335	.	0.467668	0.23420	N	0.048377	T	0.23330	0.0564	N	0.22421	0.69	0.09310	N	0.999994	B;P	0.39282	0.4;0.666	B;B	0.30029	0.11;0.102	T	0.09885	-1.0654	10	0.19147	T	0.46	-21.1832	10.7119	0.45988	0.0757:0.1342:0.7901:0.0	.	913;920	F5GY04;Q01954	.;BNC1_HUMAN	V	920;913	ENSP00000307041:A920V	ENSP00000307041:A920V	A	-	2	0	BNC1	81717424	0.623000	0.27094	0.936000	0.37596	0.710000	0.40934	1.984000	0.40658	1.454000	0.47793	0.557000	0.71058	GCT	BNC1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420010.1		-	ENST00000569704.1	Missense_Mutation	SNP	15 : 83926420 - 83926420 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1109	93
BRWD1	54014	broad.mit.edu	37	21	40578076	40578076	+	Missense_Mutation	SNP	C	C	A	rs147847700	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:40578076C>A	ENST00000380800.3	-	37	4420	c.4322G>T	c.(4321-4323)cGg>cTg	p.R1441L	BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441L|BRWD1_ENST00000342449.3_Missense_Mutation_p.R1441L			Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAATTTTGCCGTTGCTTGAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(170;988 1986 4794 16843 39731)							NA				0													126	133	130			NA	NA	21		NA											NA				40578076		2203	4300	6503	SO:0001583	missense			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658	54014	54014		WD repeat domain containing	12760	protein-coding gene	gene with protein product			chromosome 21 open reading frame 107, WD repeat domain 9	C21orf107, WDR9	NA		Standard	NM_033656	NM_033656	NA	Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000380800.3:c.4322G>T	21.37:g.40578076C>A	ENSP00000370178:p.Arg1441Leu	NA	C9JK25|O43721|Q5R2V0|Q5R2V1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	37		.	.	.	.	.	.	.	.	.	.	C	9.592	1.126374	0.20959	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	T;T;T	0.59224	0.28;0.31;0.38	4.87	2.09	0.27110	.	0.173450	0.35970	N	0.002879	T	0.49150	0.1540	L	0.58101	1.795	0.09310	N	1	P;P;B	0.41546	0.632;0.754;0.358	B;B;B	0.38428	0.273;0.256;0.067	T	0.44952	-0.9294	10	0.72032	D	0.01	-0.1605	7.9196	0.29837	0.0:0.6:0.0:0.4	.	1441;1441;1441	Q9NSI6-3;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	L	1441;1441;1441;397	ENSP00000330753:R1441L;ENSP00000344333:R1441L;ENSP00000370178:R1441L	ENSP00000330753:R1441L	R	-	2	0	BRWD1	39499946	0.025000	0.19082	0.345000	0.25642	0.581000	0.36288	0.356000	0.20181	0.141000	0.18875	-0.258000	0.10820	CGG	BRWD1-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339983.1		-	ENST00000380800.3	Missense_Mutation	SNP	21 : 40578076 - 40578076 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	869	9
BTN1A1	696	broad.mit.edu	37	6	26501880	26501880	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:26501880C>T	ENST00000244513.6	+	2	208	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	48	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGACGCCGAGCTGCCCTGTCG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	37	37			NA	NA	6		NA											NA				26501880		2199	4288	6487	SO:0001819	synonymous_variant			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557	696	696		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1135	protein-coding gene	gene with protein product		601610		BTN	NA	8114113, 9382921	Standard	NM_001732	NM_001732	NA	Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.142C>T	6.37:g.26501880C>T		NA	Q4VAN3|Q4VAN4|Q9H458	37	CCDS4614.1																																																																																			BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043776.1		+	ENST00000244513.6	Silent	SNP	6 : 26501880 - 26501880 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	330	15
C14orf37	145407	broad.mit.edu	37	14	58605921	58605921	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58605921G>T	ENST00000267485.7	-	2	350	c.156C>A	c.(154-156)acC>acA	p.T52T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	52						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTAGGTCATCGGTGTTCATCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													272	268	269			NA	NA	14		NA											NA				58605921		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971	145407	145407			19846	protein-coding gene	gene with protein product					NA		Standard	NM_001001872	NM_001001872	NA	Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.156C>A	14.37:g.58605921G>T		NA	A8K8Z8|Q6P5Q1|Q86TY1	37	CCDS32089.1																																																																																			C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412059.1		-	ENST00000267485.7	Silent	SNP	14 : 58605921 - 58605921 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	963	9
C6orf136	221545	broad.mit.edu	37	6	30619054	30619054	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:30619054G>T	ENST00000293604.6	+	4	1311	c.1118G>T	c.(1117-1119)tGg>tTg	p.W373L	C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L|C6orf136_ENST00000376473.5_Missense_Mutation_p.W192L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	192										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCCGGACATGGTACATTCTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													254	255	255			NA	NA	6		NA											NA				30619054		2203	4300	6503	SO:0001583	missense			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564	221545	221545			21301	protein-coding gene	gene with protein product					NA		Standard	NM_145029	NM_001109938	NA	Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000293604.6:c.1118G>T	6.37:g.30619054G>T	ENSP00000293604:p.Trp373Leu	NA	Q5SU01|Q6ZSB7|Q8TB84	37	CCDS54979.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207852	0.22205	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801	.	.	.	4.72	0.6	0.17524	.	0.571491	0.18568	N	0.137403	T	0.07143	0.0181	N	0.08118	0	0.25418	N	0.9883	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.41466	-0.9507	9	0.11485	T	0.65	-1.7055	13.3791	0.60757	0.0:0.0:0.2885:0.7115	.	58;373;192	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	L	373;192;58;310;49;14;5	.	ENSP00000293604:W373L	W	+	2	0	C6orf136	30727033	0.987000	0.35691	0.981000	0.43875	0.980000	0.70556	0.475000	0.22164	-0.006000	0.14370	-0.152000	0.13540	TGG	C6orf136-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076457.4		+	ENST00000293604.6	Missense_Mutation	SNP	6 : 30619054 - 30619054 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1621	17
CACNA1S	779	broad.mit.edu	37	1	201019522	201019522	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:201019522C>T	ENST00000362061.3	-	34	4462	c.4236G>A	c.(4234-4236)gaG>gaA	p.E1412E	CACNA1S_ENST00000367338.3_Silent_p.E1393E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1412					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCACTTAGCCTCTGGGTCAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	82	83			NA	NA	1		NA											NA				201019522		2203	4300	6503	SO:0001819	synonymous_variant			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248	779	779		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3	NA	7916735, 16382099	Standard	NM_000069	NM_000069	NA	Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4236G>A	1.37:g.201019522C>T		NA	A4IF51|B1ALM2|Q12896|Q13934	37	CCDS1407.1																																																																																			CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087049.1		-	ENST00000362061.3	Silent	SNP	1 : 201019522 - 201019522 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	269	26
CADPS	8618	broad.mit.edu	37	3	62556597	62556597	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:62556597C>A	ENST00000383710.4	-	9	1943	c.1594G>T	c.(1594-1596)Ggt>Tgt	p.G532C	CADPS_ENST00000357948.3_Missense_Mutation_p.G532C|CADPS_ENST00000283269.9_Missense_Mutation_p.G532C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	532	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACATTCTTACCGATGGCCCAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	149	148			NA	NA	3		NA											NA				62556597		2203	4300	6503	SO:0001583	missense			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618	8618	8618		Pleckstrin homology (PH) domain containing	1426	protein-coding gene	gene with protein product		604667			NA	1516133	Standard	NM_003716, NM_183393, NM_183394	NM_183393	NA	Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1594G>T	3.37:g.62556597C>A	ENSP00000373215:p.Gly532Cys	NA	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029139	0.75504	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T;T	0.77229	-0.15;-0.09;-0.13;-1.08	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.88680	0.6502	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.89811	0.3982	10	0.87932	D	0	.	17.2657	0.87086	0.0:1.0:0.0:0.0	.	532;532;532;532	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	C	532;532;532;532;27	ENSP00000373215:G532C;ENSP00000350632:G532C;ENSP00000283269:G532C;ENSP00000439528:G27C	ENSP00000283269:G532C	G	-	1	0	CADPS	62531637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.718000	0.68455	2.668000	0.90789	0.655000	0.94253	GGT	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351951.5		-	ENST00000383710.4	Missense_Mutation	SNP	3 : 62556597 - 62556597 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	691	9
CAPRIN2	65981	broad.mit.edu	37	12	30881820	30881820	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:30881820C>A	ENST00000395805.2	-	8	2091	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W182L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W515L|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W515L	NM_001206856.1	NP_001193785.1	Q6IMN6	CAPR2_HUMAN	caprin family member 2	515					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGAAGGTGTCCAAGACTTTGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	177	181			NA	NA	12		NA											NA				30881820		2203	4300	6503	SO:0001583	missense			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888	65981	65981			21259	protein-coding gene	gene with protein product		610375	C1q domain containing 1	C1QDC1	NA	11347906, 14764709	Standard	NM_023925	NM_001002259	NA	Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1544G>T	12.37:g.30881820C>A	ENSP00000379150:p.Trp515Leu	NA	Q149P7|Q6IMN5|Q7Z371|Q8TE70|Q8TE71|Q96RN6|Q9H667|Q9HAL4	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017222	0.75161	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.77620	2.24;-0.87;2.69;-0.79;-1.11;2.66;2.3	4.65	4.65	0.58169	.	0.276934	0.38217	N	0.001766	T	0.79924	0.4530	N	0.19112	0.55	0.42313	D	0.992223	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D	0.85130	0.997;0.997;0.994;0.997;0.994;0.996;0.994	T	0.80817	-0.1213	10	0.39692	T	0.17	-4.407	16.085	0.81038	0.0:1.0:0.0:0.0	.	515;241;515;515;515;515;515	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	L	261;515;515;515;182;515;241;434	ENSP00000415407:W261L;ENSP00000298892:W515L;ENSP00000379150:W515L;ENSP00000251071:W515L;ENSP00000309785:W182L;ENSP00000391479:W515L;ENSP00000438010:W434L	ENSP00000251071:W515L	W	-	2	0	CAPRIN2	30773087	1.000000	0.71417	0.977000	0.42913	0.902000	0.53008	4.524000	0.60552	2.299000	0.77371	0.561000	0.74099	TGG	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403322.2		-	ENST00000395805.2	Missense_Mutation	SNP	12 : 30881820 - 30881820 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	544	8
CAPS2	84698	broad.mit.edu	37	12	75678746	75678746	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:75678746G>T	ENST00000393284.3	-	15	1472	c.871C>A	c.(871-873)Cga>Aga	p.R291R	CAPS2_ENST00000442339.2_Silent_p.R113R|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409445.3_Silent_p.R523R			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	523							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTTACCTTTCGAACATATGAT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	80	84			NA	NA	12		NA											NA				75678746		2201	4300	6501	SO:0001819	synonymous_variant			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881	84698	84698		EF-hand domain containing	16471	protein-coding gene	gene with protein product		607724	calcyphosphine 2		NA	11846421	Standard		NM_032606	NA	Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000393284.3:c.871C>A	12.37:g.75678746G>T		NA	Q6PH84|Q8N242|Q8NAY5	37																																																																																				CAPS2-009	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000383833.2		-	ENST00000393284.3	Silent	SNP	12 : 75678746 - 75678746 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	409	10
CBX4	8535	broad.mit.edu	37	17	77808649	77808649	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:77808649G>T	ENST00000269397.4	-	5	969	c.792C>A	c.(790-792)atC>atA	p.I264I		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	264	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCTCATCACGATCACGATGC	0.582		NA									OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													259	237	244			NA	NA	17		NA											NA				77808649		2201	4297	6498	SO:0001819	synonymous_variant			AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582	8535	8535			1554	protein-coding gene	gene with protein product	NS5ATP1-binding protein 16, Pc class 2 homolog (Drosophila)	603079	chromobox homolog 4 (Drosophila Pc class)		NA	9315667	Standard	NM_003655	NM_003655	NA	Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.792C>A	17.37:g.77808649G>T		1178	Q6TPI8|Q96C04	37	CCDS32758.1																																																																																			CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318007.1		-	ENST00000269397.4	Silent	SNP	17 : 77808649 - 77808649 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1259	13
CCDC85A	114800	broad.mit.edu	37	2	56419683	56419683	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:56419683G>A	ENST00000407595.2	+	2	850	c.348G>A	c.(346-348)cgG>cgA	p.R116R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGATGACCGGCAGAAAGGCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	82	80			NA	NA	2		NA											NA				56419683		1972	4162	6134	SO:0001819	synonymous_variant			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813	114800	114800			29400	protein-coding gene	gene with protein product					NA	11572484	Standard		NM_001080433	NA	Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.348G>A	2.37:g.56419683G>A		NA		37	CCDS46290.1																																																																																			CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324993.1		+	ENST00000407595.2	Silent	SNP	2 : 56419683 - 56419683 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	287	5
CCNB3	85417	broad.mit.edu	37	X	50053963	50053963	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:50053963G>A	ENST00000376042.1	+	6	3092	c.2794G>A	c.(2794-2796)Gct>Act	p.A932T	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A932T|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	932					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGATATGATAGCTCTGAATGA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	80	83			NA	NA	X		NA											NA				50053963		2203	4300	6503	SO:0001583	missense			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082	85417	85417			18709	protein-coding gene	gene with protein product		300456			NA	11846420, 12185076	Standard		XM_006724610	NA	Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2794G>A	X.37:g.50053963G>A	ENSP00000365210:p.Ala932Thr	NA	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599279	0.13939	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.21361	2.01;2.01	3.34	-0.792	0.10925	.	264.062000	0.00166	N	0.000000	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.21546	0.035	T	0.10268	-1.0637	9	.	.	.	.	2.7285	0.05220	0.2455:0.0:0.3704:0.3841	.	932	Q8WWL7	CCNB3_HUMAN	T	932	ENSP00000365210:A932T;ENSP00000276014:A932T	.	A	+	1	0	CCNB3	50070703	0.008000	0.16893	0.000000	0.03702	0.005000	0.04900	0.478000	0.22212	-0.326000	0.08564	-0.330000	0.08379	GCT	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056558.1		+	ENST00000376042.1	Missense_Mutation	SNP	X : 50053963 - 50053963 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	413	6
CDKAL1	54901	broad.mit.edu	37	6	20781448	20781448	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:20781448C>A	ENST00000378610.1	+	6	600	c.590C>A	c.(589-591)cCg>cAg	p.P197Q	CDKAL1_ENST00000378624.4_Missense_Mutation_p.P127Q|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000274695.4_Missense_Mutation_p.P197Q			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	197					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTGGATTTGCCGAAGATTAGG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	127	127			NA	NA	6		NA											NA				20781448		2203	4300	6503	SO:0001583	missense			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996	54901	54901			21050	protein-coding gene	gene with protein product		611259			NA		Standard	NM_017774	NM_017774	NA	Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.590C>A	6.37:g.20781448C>A	ENSP00000367873:p.Pro197Gln	NA	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	37	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056802	0.93793	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.22743	1.94;1.94;1.94	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.92691	3.335	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.981;0.933	T	0.63611	-0.6598	10	0.87932	D	0	.	20.5837	0.99426	0.0:1.0:0.0:0.0	.	127;197	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	Q	197;127;197	ENSP00000274695:P197Q;ENSP00000367889:P127Q;ENSP00000367873:P197Q	ENSP00000274695:P197Q	P	+	2	0	CDKAL1	20889427	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	7.477000	0.81069	2.871000	0.98454	0.638000	0.83543	CCG	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039986.1		+	ENST00000378610.1	Missense_Mutation	SNP	6 : 20781448 - 20781448 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	389	7
CDKL5	6792	broad.mit.edu	37	X	18631387	18631387	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18631387C>A	ENST00000379989.3	+	16	2553	c.2268C>A	c.(2266-2268)ttC>ttA	p.F756L	CDKL5_ENST00000463994.1_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.F756L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	756				Missing (in Ref. 4; CAA61445).	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AACCAGCATTCGATCCATGGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	117	119			NA	NA	X		NA											NA				18631387		2203	4300	6503	SO:0001583	missense			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086	6792	6792		Cyclin-dependent kinases	11411	protein-coding gene	gene with protein product		300203	serine/threonine kinase 9	STK9	NA	9721213, 16935860	Standard	NM_003159	XM_005274584	NA	Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2268C>A	X.37:g.18631387C>A	ENSP00000369325:p.Phe756Leu	NA	Q14198|Q5H985|Q8IYC7|Q9UJL6	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921786	0.73213	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.79554	-1.28;-1.28	5.03	-2.85	0.05734	.	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	L	0.34521	1.04	0.34699	D	0.726521	D	0.76494	0.999	D	0.74674	0.984	T	0.81752	-0.0789	10	0.72032	D	0.01	-19.4956	12.8858	0.58042	0.0:0.1006:0.0:0.8994	.	756	O76039	CDKL5_HUMAN	L	756	ENSP00000369332:F756L;ENSP00000369325:F756L	ENSP00000369325:F756L	F	+	3	2	CDKL5	18541308	0.962000	0.33011	0.770000	0.31555	0.993000	0.82548	0.020000	0.13466	-0.882000	0.03987	0.499000	0.49734	TTC	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055945.2		+	ENST00000379989.3	Missense_Mutation	SNP	X : 18631387 - 18631387 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	622	11
CEP70	80321	broad.mit.edu	37	3	138224205	138224205	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:138224205G>T	ENST00000264982.3	-	13	1419	c.1153C>A	c.(1153-1155)Caa>Aaa	p.Q385K	CEP70_ENST00000484888.1_Missense_Mutation_p.Q385K|CEP70_ENST00000542237.1_Missense_Mutation_p.Q365K|CEP70_ENST00000489254.1_Missense_Mutation_p.Q233K|CEP70_ENST00000481834.1_Missense_Mutation_p.Q385K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	385					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CCACAATCTTGAACAAGATCT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	125	124			NA	NA	3		NA											NA				138224205		2203	4299	6502	SO:0001583	missense			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107	80321	80321			29972	protein-coding gene	gene with protein product		614310			NA	14654843	Standard	NM_024491	XM_005247802	NA	Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1153C>A	3.37:g.138224205G>T	ENSP00000264982:p.Gln385Lys	NA	D3DNE9|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	37	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729538	0.30684	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834	T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77	5.14	4.27	0.50696	.	0.301827	0.28815	N	0.014047	T	0.22898	0.0553	L	0.57536	1.79	0.09310	N	1	B;B;P;B	0.35575	0.073;0.143;0.51;0.143	B;B;B;B	0.31290	0.022;0.056;0.127;0.056	T	0.15178	-1.0446	10	0.39692	T	0.17	-0.9407	9.7105	0.40243	0.0938:0.0:0.9062:0.0	.	233;365;385;385	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	K	385;365;233;385;367;385	ENSP00000264982:Q385K;ENSP00000444128:Q365K;ENSP00000417821:Q233K;ENSP00000419231:Q385K;ENSP00000419833:Q367K;ENSP00000417465:Q385K	ENSP00000264982:Q385K	Q	-	1	0	CEP70	139706895	0.999000	0.42202	0.034000	0.17996	0.002000	0.02628	5.655000	0.67981	1.546000	0.49388	-0.136000	0.14681	CAA	CEP70-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358001.1		-	ENST00000264982.3	Missense_Mutation	SNP	3 : 138224205 - 138224205 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	870	13
CHPF2	54480	broad.mit.edu	37	7	150934530	150934530	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:150934530C>T	ENST00000495645.1	+	5	1334	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	CHPF2_ENST00000035307.2_Missense_Mutation_p.P361L	NM_001284295.1	NP_001271224.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	361						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTGGGCTCCCTGCTCCTTTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	7		NA											NA				150934530		2203	4300	6503	SO:0001583	missense			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	54480	54480	2.4.1.226	Beta 3-glycosyltransferases, Beta 4-glycosyltransferases	29270	protein-coding gene	gene with protein product		608037			NA	10718198, 12145278, 18316376	Standard	NM_019015	NM_019015	NA	Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000495645.1:c.1058C>T	7.37:g.150934530C>T	ENSP00000418914:p.Pro353Leu	NA	B2DBD8|Q6P2I4|Q6UXD2	37		.	.	.	.	.	.	.	.	.	.	C	18.10	3.548837	0.65311	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16597	2.33;2.33	5.63	5.63	0.86233	.	0.090906	0.64402	D	0.000001	T	0.20577	0.0495	L	0.39898	1.24	0.80722	D	1	P;P	0.47034	0.889;0.879	P;P	0.48677	0.534;0.586	T	0.00728	-1.1591	10	0.29301	T	0.29	-29.2158	12.3421	0.55099	0.266:0.734:0.0:0.0	.	361;353	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	L	353;361;361	ENSP00000418914:P353L;ENSP00000035307:P361L	ENSP00000035307:P361L	P	+	2	0	CHPF2	150565463	0.997000	0.39634	0.951000	0.38953	0.715000	0.41141	3.589000	0.53972	2.652000	0.90054	0.655000	0.94253	CCT	CHPF2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000348842.1		+	ENST00000495645.1	Missense_Mutation	SNP	7 : 150934530 - 150934530 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	423	43
CLEC18B	497190	broad.mit.edu	37	16	74443519	74443519	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:74443519A>T	ENST00000339953.5	-	12	1380	c.1259T>A	c.(1258-1260)cTg>cAg	p.L420Q		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	420	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGAAGCCTGCAGCTCCACGCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	112	117			NA	NA	16		NA											NA				74443519		2196	4297	6493	SO:0001583	missense			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839	497190	497190		C-type lectin domain containing	33849	protein-coding gene	gene with protein product					NA		Standard	NM_001011880	NM_001011880	NA	Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1259T>A	16.37:g.74443519A>T	ENSP00000341051:p.Leu420Gln	NA	B4DF90	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	a	16.96	3.265272	0.59431	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.60040	0.22	3.64	3.64	0.41730	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.101710	0.40908	D	0.000981	T	0.70133	0.3189	M	0.76727	2.345	0.29629	N	0.845598	D;D	0.64830	0.994;0.994	D;D	0.65323	0.934;0.913	T	0.67511	-0.5652	10	0.87932	D	0	.	8.5986	0.33732	1.0:0.0:0.0:0.0	.	411;420	C9JSV1;Q6UXF7	.;CL18B_HUMAN	Q	411;420	ENSP00000341051:L420Q	ENSP00000341051:L420Q	L	-	2	0	CLEC18B	73001020	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.380000	0.79704	1.519000	0.48950	0.352000	0.21897	CTG	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434697.1		-	ENST00000339953.5	Missense_Mutation	SNP	16 : 74443519 - 74443519 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	361	20
COL4A2	1284	broad.mit.edu	37	13	110960263	110960263	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:110960263C>A	ENST00000360467.5	+	2	319	c.13C>A	c.(13-15)Cag>Aag	p.Q5K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	5					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGGAGAGACCAGCGCGCGGT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	32	29			NA	NA	13		NA											NA				110960263		1977	4142	6119	SO:0001583	missense			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871	1284	1284		Collagens	2203	protein-coding gene	gene with protein product	canstatin, collagen type IV alpha 2	120090			NA	2439508, 3025878	Standard	NM_001846	NM_001846	NA	Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.13C>A	13.37:g.110960263C>A	ENSP00000353654:p.Gln5Lys	NA	Q14052|Q548C3|Q5VZA9|Q66K23	37	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.176863	0.06380	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.90676	-2.71;-2.69	3.37	2.41	0.29592	.	.	.	.	.	T	0.74943	0.3783	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.62388	-0.6865	9	0.02654	T	1	.	7.2031	0.25891	0.2652:0.7348:0.0:0.0	.	5	P08572	CO4A2_HUMAN	K	5	ENSP00000383027:Q5K;ENSP00000353654:Q5K	ENSP00000257309:Q5K	Q	+	1	0	COL4A2	109758264	0.001000	0.12720	0.007000	0.13788	0.117000	0.20001	0.298000	0.19120	1.882000	0.54519	0.561000	0.74099	CAG	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045761.2		+	ENST00000360467.5	Missense_Mutation	SNP	13 : 110960263 - 110960263 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	308	37
COQ10B	80219	broad.mit.edu	37	2	198338490	198338490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:198338490G>T	ENST00000409010.1	+	5	711	c.475G>T	c.(475-477)Gaa>Taa	p.E159*	COQ10B_ENST00000409398.1_Nonsense_Mutation_p.E137*|COQ10B_ENST00000545340.1_Nonsense_Mutation_p.E144*|COQ10B_ENST00000263960.2_Nonsense_Mutation_p.E187*			Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	187						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATTTCTTTTGAATTTCGATC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	2		NA											NA				198338490		2203	4300	6503	SO:0001587	stop_gained			AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520	80219	80219			25819	protein-coding gene	gene with protein product			coenzyme Q10 homolog B (yeast)		NA		Standard	NM_025147	NM_025147	NA	Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000409010.1:c.475G>T	2.37:g.198338490G>T	ENSP00000387223:p.Glu159*	NA		37		.	.	.	.	.	.	.	.	.	.	G	38	7.256417	0.98168	.	.	ENSG00000115520	ENST00000263960;ENST00000409398;ENST00000545340;ENST00000409010	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-4.0466	18.5442	0.91040	0.0:0.0:1.0:0.0	.	.	.	.	X	187;137;144;159	.	ENSP00000263960:E187X	E	+	1	0	COQ10B	198046735	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.777000	0.99008	2.371000	0.80710	0.585000	0.79938	GAA	COQ10B-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335254.1		+	ENST00000409010.1	Nonsense_Mutation	SNP	2 : 198338490 - 198338490 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	531	9
DBT	1629	broad.mit.edu	37	1	100672084	100672084	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:100672084G>T	ENST00000370132.4	-	9	1139	c.1126C>A	c.(1126-1128)Cgc>Agc	p.R376S		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	NA					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	p.R376S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCTGGAGGCGGTTCAGTTCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											199	204	202			NA	NA	1		NA											NA				100672084		2203	4300	6503	SO:0001583	missense			BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992	1629	1629			2698	protein-coding gene	gene with protein product		248610	dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)		NA	1420314, 1429740	Standard	NM_001918	NM_001918	NA	Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1126C>A	1.37:g.100672084G>T	ENSP00000359151:p.Arg376Ser	NA	B2R811|Q5VVL8	37	CCDS767.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603745	0.87157	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	T	0.44083	0.93	5.84	5.84	0.93424	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.75020	0.88;0.985	T	0.66575	-0.5889	10	0.72032	D	0.01	-4.8811	20.1386	0.98045	0.0:0.0:1.0:0.0	.	195;376	F5H1F9;P11182	.;ODB2_HUMAN	S	195;376	ENSP00000359151:R376S	ENSP00000359151:R376S	R	-	1	0	DBT	100444672	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	9.348000	0.97062	2.767000	0.95098	0.561000	0.74099	CGC	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030101.2		-	ENST00000370132.4	Missense_Mutation	SNP	1 : 100672084 - 100672084 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1206	12
DDB1	1642	broad.mit.edu	37	11	61070620	61070620	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:61070620C>A	ENST00000301764.7	-	23	3237	c.2840G>T	c.(2839-2841)cGa>cTa	p.R947L	DDB1_ENST00000450997.2_Missense_Mutation_p.R258L|DDB1_ENST00000538470.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	947	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTAAAGTCTCGAGCAATCTT	0.413		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	112	115			NA	NA	11		NA											NA				61070620		2203	4299	6502	SO:0001583	missense			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986	1642	1642			2717	protein-coding gene	gene with protein product		600045	damage-specific DNA binding protein 1 (127kD)		NA	8530102, 10574459	Standard	NM_001923	NM_001923	NA	Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2840G>T	11.37:g.61070620C>A	ENSP00000301764:p.Arg947Leu	NA	A6NG77|B2R648|O15176|Q13289|Q58F96	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121102	0.94385	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000539332	T;T;T	0.50548	0.74;0.74;0.74	5.18	5.18	0.71444	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.88310	2.945	0.80722	D	1	D;D	0.63880	0.993;0.966	D;D	0.69142	0.962;0.931	T	0.78886	-0.2027	10	0.56958	D	0.05	-6.7829	18.6942	0.91594	0.0:1.0:0.0:0.0	.	258;947	B4DG00;Q16531	.;DDB1_HUMAN	L	947;258;113	ENSP00000301764:R947L;ENSP00000388705:R258L;ENSP00000439787:R113L	ENSP00000301764:R947L	R	-	2	0	DDB1	60827196	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.802000	0.85969	2.426000	0.82243	0.491000	0.48974	CGA	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398816.1		-	ENST00000301764.7	Missense_Mutation	SNP	11 : 61070620 - 61070620 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	545	8
DDX4	54514	broad.mit.edu	37	5	55109582	55109582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:55109582C>A	ENST00000505374.1	+	19	1789	c.1697C>A	c.(1696-1698)tCa>tAa	p.S566*	DDX4_ENST00000511853.1_Nonsense_Mutation_p.S417*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S546*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	566	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAAAAATATCAACTACAAGT	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	83	78			NA	NA	5		NA											NA				55109582		2201	4295	6496	SO:0001587	stop_gained			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670	54514	54514		DEAD-boxes	18700	protein-coding gene	gene with protein product		605281	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4		NA	10920202, 11850529	Standard	NM_024415	NM_001142549	NA	Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1697C>A	5.37:g.55109582C>A	ENSP00000424838:p.Ser566*	NA	A8K8Q2|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	38	6.851968	0.97885	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	.	.	.	6.17	6.17	0.99709	.	0.279673	0.36167	N	0.002759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-12.1506	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	532;546;566;532;417	.	ENSP00000334167:S532X	S	+	2	0	DDX4	55145339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.688000	0.54699	2.941000	0.99782	0.655000	0.94253	TCA	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214147.2		+	ENST00000505374.1	Nonsense_Mutation	SNP	5 : 55109582 - 55109582 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	524	9
DEFB119	245932	broad.mit.edu	37	20	29976964	29976964	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:29976964C>T	ENST00000376315.2	-	2	130	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	50					defense response to bacterium	extracellular region		p.R44Q(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTACGATTTCGGCAGCGTAT	0.453		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)						C	,GLN/ARG,	0,4406		0,0,2203	210	179	190		,131,	-7.4	0	20		190	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron	DEFB119	NM_153289.2,NM_153323.3,NM_173460.1	,43,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	,44/89,	29976964	1,13005	2203	4300	6503	SO:0001583	missense			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483	245932	245932		Defensins, beta	18099	protein-coding gene	gene with protein product			defensin, beta 120	DEFB120	NA	11854508	Standard	NM_153289	NM_153289	NA	Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376315.2:c.131G>A	20.37:g.29976964C>T	ENSP00000365492:p.Arg44Gln	NA	Q5GRG1|Q5JWP1|Q8N689	37	CCDS33455.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.63	2.890815	0.52014	0.0	1.16E-4	ENSG00000180483	ENST00000376315	T	0.12147	2.71	3.71	-7.43	0.01383	.	4.895910	0.00541	N	0.000227	T	0.07548	0.0190	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.17684	-1.0361	9	0.38643	T	0.18	8.8927	1.4233	0.02317	0.1537:0.2175:0.2377:0.3912	.	44	Q8N690-2	.	Q	44	ENSP00000365492:R44Q	ENSP00000365492:R44Q	R	-	2	0	DEFB119	29440625	0.000000	0.05858	0.000000	0.03702	0.955000	0.61496	-2.121000	0.01322	-3.536000	0.00145	-0.251000	0.11542	CGA	DEFB119-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078507.1		-	ENST00000376315.2	Missense_Mutation	SNP	20 : 29976964 - 29976964 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	492	12
DMXL2	23312	broad.mit.edu	37	15	51780219	51780219	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51780219C>A	ENST00000251076.5	-	22	5436	c.5149G>T	c.(5149-5151)Gga>Tga	p.G1717*	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.G1717*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.G1081*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1717						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CGTTGTTTTCCAAGTAAGGAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	152	149			NA	NA	15		NA											NA				51780219		2196	4293	6489	SO:0001587	stop_gained			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093	23312	23312		WD repeat domain containing	2938	protein-coding gene	gene with protein product	rabconnectin 3	612186			NA		Standard	NM_015263	NM_001174116	NA	Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5149G>T	15.37:g.51780219C>A	ENSP00000251076:p.Gly1717*	NA	O94938	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	42	9.303235	0.99130	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5735	0.91145	0.0:1.0:0.0:0.0	.	.	.	.	X	1717;1717;1081	.	ENSP00000251076:G1717X	G	-	1	0	DMXL2	49567511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.675000	0.84002	2.442000	0.82660	0.585000	0.79938	GGA	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254671.2		-	ENST00000251076.5	Nonsense_Mutation	SNP	15 : 51780219 - 51780219 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1219	15
DNAH7	56171	broad.mit.edu	37	2	196825552	196825552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:196825552C>A	ENST00000312428.6	-	18	2423	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	775	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCTAAATTCGACAGCAGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	138	142			NA	NA	2		NA											NA				196825552		1853	4104	5957	SO:0001587	stop_gained			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997	56171	56171		Axonemal dyneins, EF-hand domain containing	18661	protein-coding gene	gene with protein product		610061	dynein, axonemal, heavy polypeptide 7		NA	9373155, 11877439	Standard	NM_018897	NM_018897	NA	Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2323G>T	2.37:g.196825552C>A	ENSP00000311273:p.Glu775*	NA	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	41	8.546907	0.98857	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.74	5.74	0.90152	.	0.062767	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.9196	0.97082	0.0:1.0:0.0:0.0	.	.	.	.	X	775	.	ENSP00000311273:E775X	E	-	1	0	DNAH7	196533797	0.999000	0.42202	0.920000	0.36463	0.863000	0.49368	4.270000	0.58896	2.708000	0.92522	0.650000	0.86243	GAA	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335202.3		-	ENST00000312428.6	Nonsense_Mutation	SNP	2 : 196825552 - 196825552 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	667	12
DNAJC10	54431	broad.mit.edu	37	2	183622482	183622482	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:183622482C>A	ENST00000264065.7	+	19	2288	c.1873C>A	c.(1873-1875)Cag>Aag	p.Q625K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	NA	Thioredoxin 3.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTTTGTGCCCAGGAAAACGT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(56;860 1183 25669 35822 48585)							NA				0													86	91	90			NA	NA	2		NA											NA				183622482		2203	4300	6503	SO:0001583	missense				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232	54431	54431		Heat shock proteins / DNAJ (HSP40), Protein disulfide isomerases	24637	protein-coding gene	gene with protein product	protein disulfide isomerase family A, member 19	607987			NA	12411443, 12446677	Standard	NM_018981	NM_018981	NA	Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1873C>A	2.37:g.183622482C>A	ENSP00000264065:p.Gln625Lys	NA	Q17RJ6|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294766	0.23564	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.35789	1.29	5.87	2.93	0.34026	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.376195	0.31963	N	0.006798	T	0.21550	0.0519	N	0.14661	0.345	0.58432	D	0.999999	B;B	0.22080	0.001;0.064	B;B	0.27170	0.004;0.077	T	0.04693	-1.0933	10	0.25106	T	0.35	.	10.7484	0.46194	0.0:0.6612:0.2707:0.0681	.	579;625	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	K	625;579	ENSP00000264065:Q625K	ENSP00000264065:Q625K	Q	+	1	0	DNAJC10	183330727	0.962000	0.33011	0.998000	0.56505	0.992000	0.81027	1.867000	0.39499	0.913000	0.36797	0.655000	0.94253	CAG	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334418.2		+	ENST00000264065.7	Missense_Mutation	SNP	2 : 183622482 - 183622482 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	480	7
DOCK11	139818	broad.mit.edu	37	X	117796744	117796744	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117796744C>A	ENST00000276204.6	+	45	5139	c.5065C>A	c.(5065-5067)Cat>Aat	p.H1689N	DOCK11_ENST00000276202.7_Missense_Mutation_p.H1689N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1689	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GATGGATGTCCATTATAGTGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	82	87			NA	NA	X		NA											NA				117796744		2203	4300	6503	SO:0001583	missense			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251	139818	139818		Pleckstrin homology (PH) domain containing	23483	protein-coding gene	gene with protein product	zizimin2	300681			NA	12432077, 16968698	Standard	NM_144658	NM_144658	NA	Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276204.6:c.5065C>A	X.37:g.117796744C>A	ENSP00000276204:p.His1689Asn	NA	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	37		.	.	.	.	.	.	.	.	.	.	C	12.57	1.978984	0.34942	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18016	2.24;2.24	5.61	5.61	0.85477	.	0.052227	0.85682	D	0.000000	T	0.24392	0.0591	M	0.64997	1.995	0.36635	D	0.876492	P;P	0.46020	0.871;0.871	P;P	0.46237	0.508;0.508	T	0.12708	-1.0537	10	0.51188	T	0.08	-15.4143	11.2768	0.49172	0.0:0.9153:0.0:0.0847	.	1689;1689	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	1689	ENSP00000276204:H1689N;ENSP00000276202:H1689N	ENSP00000276202:H1689N	H	+	1	0	DOCK11	117680772	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.358000	0.44134	2.493000	0.84123	0.600000	0.82982	CAT	DOCK11-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000058006.2		+	ENST00000276204.6	Missense_Mutation	SNP	X : 117796744 - 117796744 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	296	8
DOCK3	1795	broad.mit.edu	37	3	51393896	51393896	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:51393896G>T	ENST00000266037.9	+	43	4498	c.4475G>T	c.(4474-4476)cGg>cTg	p.R1492L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1492	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCATCTCTCGGTGGTTTGAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	122	124			NA	NA	3		NA											NA				51393896		2024	4198	6222	SO:0001583	missense			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538	1795	1795			2989	protein-coding gene	gene with protein product		603123	dedicator of cyto-kinesis 3		NA	9205841	Standard	NM_004947	NM_004947	NA	Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4475G>T	3.37:g.51393896G>T	ENSP00000266037:p.Arg1492Leu	NA	O15017	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529687	0.85706	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.19669	2.13	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	M	0.83312	2.635	0.80722	D	1	B	0.27498	0.18	B	0.28385	0.089	T	0.26815	-1.0092	10	0.72032	D	0.01	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1492	Q8IZD9	DOCK3_HUMAN	L	1492;288	ENSP00000266037:R1492L	ENSP00000266037:R1492L	R	+	2	0	DOCK3	51368936	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	CGG	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346478.5		+	ENST00000266037.9	Missense_Mutation	SNP	3 : 51393896 - 51393896 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	476	7
DZIP3	9666	broad.mit.edu	37	3	108353719	108353719	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:108353719G>C	ENST00000361582.3	+	10	1048	c.818G>C	c.(817-819)gGa>gCa	p.G273A	DZIP3_ENST00000463306.1_Splice_Site_p.G273A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	273					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	67	67			NA	NA	3		NA											NA				108353719		2198	4295	6493	SO:0001630	splice_region_variant			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919	9666	9666		RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	30938	protein-coding gene	gene with protein product	human RNA-binding ubiquitin ligase of 138 kDa, protein phosphatase 1, regulatory subunit 66	608672	DAZ interacting protein 3, zinc finger		NA	9734811, 12538761	Standard	NM_014648	NM_014648	NA	Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.817-1G>C	3.37:g.108353719G>C		NA	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934030	0.52866	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.44881	0.91;0.91;0.91	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000098	T	0.30885	0.0779	N	0.19112	0.55	0.39140	D	0.96201	P	0.38020	0.615	B	0.37480	0.251	T	0.33111	-0.9881	10	0.87932	D	0	-15.8714	13.8419	0.63444	0.0:0.0:1.0:0.0	.	273	Q86Y13	DZIP3_HUMAN	A	273	ENSP00000355028:G273A;ENSP00000418115:G273A;ENSP00000419981:G273A	ENSP00000355028:G273A	G	+	2	0	DZIP3	109836409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	GGA	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353968.1	Missense_Mutation	+	ENST00000361582.3	Splice_Site	SNP	3 : 108353719 - 108353719 C PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	318	13
EBAG9	9166	broad.mit.edu	37	8	110576764	110576764	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:110576764C>A	ENST00000531677.1	+	7	753	c.753C>A	c.(751-753)aaC>aaA	p.N251K	EBAG9_ENST00000337573.5_Missense_Mutation_p.N206K|EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	206					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGGAACAAAACAAAATTGGTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	135	135			NA	NA	8		NA											NA				110576764		2203	4300	6503	SO:0001583	missense			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654	9166	9166			3123	protein-coding gene	gene with protein product		605772			NA		Standard	NM_004215	NM_004215	NA	Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000531677.1:c.753C>A	8.37:g.110576764C>A	ENSP00000432082:p.Asn251Lys	NA	Q6IB20|Q9BS76	37	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926951	0.52759	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000531677	.	.	.	5.52	1.68	0.24146	.	0.215116	0.40728	N	0.001032	T	0.32071	0.0817	N	0.19112	0.55	0.42409	D	0.992594	B	0.33238	0.403	B	0.22601	0.04	T	0.05971	-1.0853	9	0.31617	T	0.26	-24.8557	12.9693	0.58503	0.0:0.7392:0.0:0.2608	.	206	O00559	RCAS1_HUMAN	K	206;206;251	.	ENSP00000337675:N206K	N	+	3	2	EBAG9	110645940	0.037000	0.19845	0.991000	0.47740	0.958000	0.62258	0.178000	0.16820	0.110000	0.17919	-0.797000	0.03246	AAC	EBAG9-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385488.1		+	ENST00000531677.1	Missense_Mutation	SNP	8 : 110576764 - 110576764 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	393	44
EDA2R	60401	broad.mit.edu	37	X	65819559	65819559	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:65819559C>T	ENST00000374719.3	-	6	717	c.661G>A	c.(661-663)Gac>Aac	p.D221N	EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N|EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	221					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GAGCTGCAGTCGTCCTCGAGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	50	60			NA	NA	X		NA											NA				65819559		2203	4300	6503	SO:0001583	missense			AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080	60401	60401		Tumor necrosis factor receptor superfamily	17756	protein-coding gene	gene with protein product		300276			NA	11039935	Standard	NM_021783	NM_021783	NA	Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.661G>A	X.37:g.65819559C>T	ENSP00000363851:p.Asp221Asn	NA	Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	37	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868958	0.32977	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752	D;D;D;D;D	0.84800	-1.82;-1.82;-1.9;-1.82;-1.9	3.45	3.45	0.39498	.	0.596206	0.13903	N	0.354801	T	0.72859	0.3513	L	0.27053	0.805	0.29256	N	0.871661	P;B;B	0.36125	0.538;0.054;0.004	B;B;B	0.26416	0.069;0.004;0.002	T	0.66602	-0.5882	10	0.32370	T	0.25	-5.3956	11.6654	0.51370	0.0:1.0:0.0:0.0	.	97;242;221	E7EUS4;Q9HAV5-2;Q9HAV5	.;.;TNR27_HUMAN	N	221;221;97;242;221;242	ENSP00000363851:D221N;ENSP00000379365:D221N;ENSP00000253392:D242N;ENSP00000393935:D221N;ENSP00000402929:D242N	ENSP00000253392:D242N	D	-	1	0	EDA2R	65736284	0.005000	0.15991	0.832000	0.32986	0.881000	0.50899	0.252000	0.18278	1.573000	0.49748	0.523000	0.50628	GAC	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057002.1		-	ENST00000374719.3	Missense_Mutation	SNP	X : 65819559 - 65819559 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	99	13
ELL	8178	broad.mit.edu	37	19	18556040	18556040	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:18556040G>T	ENST00000262809.4	-	11	1814	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	ELL_ENST00000596124.3_Silent_p.I448I	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	581					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TCACCTTTTTGATTTTTCGAT	0.512		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													214	224	221			NA	NA	19		NA											NA				18556040		2203	4300	6503	SO:0001819	synonymous_variant			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656	8178	8178		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	23114	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 68	600284	chromosome 19 open reading frame 17	C19orf17	NA	7991593, 8596958	Standard	NM_006532	NM_006532	NA	Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1743C>A	19.37:g.18556040G>T		NA		37	CCDS12380.1																																																																																			ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466362.1		-	ENST00000262809.4	Silent	SNP	19 : 18556040 - 18556040 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1125	15
EPB41L3	23136	broad.mit.edu	37	18	5424355	5424355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:5424355C>A	ENST00000341928.2	-	10	1409	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	357	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAAATTGTTCAAACTAAATA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	85	84			NA	NA	18		NA											NA				5424355		2203	4300	6503	SO:0001587	stop_gained			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397	23136	23136			3380	protein-coding gene	gene with protein product		605331			NA	9828140, 9892180	Standard	NM_012307	NM_012307	NA	Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1069G>T	18.37:g.5424355C>A	ENSP00000343158:p.Glu357*	NA	O95713|Q9BRP5	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	42	9.258930	0.99117	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	6.06	6.06	0.98353	.	0.129804	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6186	0.99473	0.0:1.0:0.0:0.0	.	.	.	.	X	357;248;357;248;357;357	.	ENSP00000343158:E357X	E	-	1	0	EPB41L3	5414355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.876000	0.98609	0.643000	0.83706	GAA	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254424.1		-	ENST00000341928.2	Nonsense_Mutation	SNP	18 : 5424355 - 5424355 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	480	12
EPHA1	2041	broad.mit.edu	37	7	143092480	143092480	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:143092480C>A	ENST00000275815.3	-	12	2101	c.2015G>T	c.(2014-2016)cGa>cTa	p.R672L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	672	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTTGCCTCTCGAAGGAAGTT	0.567		NA									OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													209	210	210			NA	NA	7		NA											NA				143092480		2203	4300	6503	SO:0001583	missense			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2041	2041	2.7.10.1	EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3385	protein-coding gene	gene with protein product		179610	EphA1	EPHT, EPHT1	NA	9267020	Standard		NM_005232	NA	Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2015G>T	7.37:g.143092480C>A	ENSP00000275815:p.Arg672Leu	1676	A1L3V3|Q15405	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234819	0.95207	.	.	ENSG00000146904	ENST00000275815	D	0.83250	-1.7	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000091	D	0.87912	0.6297	L	0.56280	1.765	0.58432	D	0.999999	D	0.63046	0.992	P	0.59948	0.866	D	0.87806	0.2628	10	0.49607	T	0.09	.	18.4787	0.90802	0.0:1.0:0.0:0.0	.	672	P21709	EPHA1_HUMAN	L	672	ENSP00000275815:R672L	ENSP00000275815:R672L	R	-	2	0	EPHA1	142802602	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.820000	0.69250	2.669000	0.90835	0.655000	0.94253	CGA	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342154.1		-	ENST00000275815.3	Missense_Mutation	SNP	7 : 143092480 - 143092480 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1017	10
EXOC1	55763	broad.mit.edu	37	4	56744167	56744167	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:56744167C>A	ENST00000381295.2	+	9	1507	c.1159C>A	c.(1159-1161)Cga>Aga	p.R387R	EXOC1_ENST00000349598.6_Silent_p.R387R|EXOC1_ENST00000346134.7_Silent_p.R387R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	387					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGATTTGCTCCGATATGCCAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	131	135			NA	NA	4		NA											NA				56744167		2203	4300	6503	SO:0001819	synonymous_variant			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989	55763	55763			30380	protein-coding gene	gene with protein product		607879	SEC3-like 1 (S. cerevisiae)	SEC3L1	NA	11042152, 11406615	Standard	NM_018261	XM_005265747	NA	Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1159C>A	4.37:g.56744167C>A		NA	Q504V4|Q8WUE7|Q96T15|Q9NZE4	37	CCDS3502.1																																																																																			EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361799.1		+	ENST00000381295.2	Silent	SNP	4 : 56744167 - 56744167 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	427	8
FAM129A	116496	broad.mit.edu	37	1	184777291	184777291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:184777291C>A	ENST00000367511.3	-	10	1445	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	418					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGCAGGCGCTCGTGAAGCAGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	110	108			NA	NA	1		NA											NA				184777291		2203	4300	6503	SO:0001587	stop_gained			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842	116496	116496			16784	protein-coding gene	gene with protein product	cell growth inhibiting protein 39		chromosome 1 open reading frame 24	C1orf24	NA	15085203, 16444351	Standard		NM_052966	NA	Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1252G>T	1.37:g.184777291C>A	ENSP00000356481:p.Glu418*	NA	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	39	7.450749	0.98292	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.23	5.23	0.72850	.	0.159368	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-30.4623	16.9967	0.86369	0.0:1.0:0.0:0.0	.	.	.	.	X	418	.	ENSP00000356481:E418X	E	-	1	0	FAM129A	183043914	1.000000	0.71417	0.933000	0.37362	0.867000	0.49689	5.525000	0.67110	2.438000	0.82558	0.655000	0.94253	GAG	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085786.1		-	ENST00000367511.3	Nonsense_Mutation	SNP	1 : 184777291 - 184777291 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	387	9
FAM13B	51306	broad.mit.edu	37	5	137278825	137278825	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:137278825G>T	ENST00000033079.3	-	20	2806	c.2355C>A	c.(2353-2355)atC>atA	p.I785I	FAM13B_ENST00000420893.2_Silent_p.I757I|FAM13B_ENST00000425075.2_Silent_p.I661I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	785					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GGATTACCTTGATTTCTTCAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	97	96			NA	NA	5		NA											NA				137278825		2203	4300	6503	SO:0001819	synonymous_variant			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003	NA	51306		Rho GTPase activating proteins	1335	protein-coding gene	gene with protein product		609371	chromosome 5 open reading frame 5, family with sequence similarity 13, member B1	C5orf5, FAM13B1	NA	11087669, 11161817	Standard		NM_016603	NA	Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2355C>A	5.37:g.137278825G>T		NA	D3DQB5|Q6PGQ2|Q9P0I7	37	CCDS4195.1																																																																																			FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251279.1		-	ENST00000033079.3	Silent	SNP	5 : 137278825 - 137278825 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	363	8
FAM53A	152877	broad.mit.edu	37	4	1656790	1656790	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:1656790C>G	ENST00000489363.1	-	4	1394	c.797G>C	c.(796-798)aGt>aCt	p.S266T	FAM53A_ENST00000308132.6_Missense_Mutation_p.S266T|FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T|FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T			Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	266						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCTCTTCCCACTGAGCACGCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	24	25			NA	NA	4		NA											NA				1656790		2202	4300	6502	SO:0001583	missense			BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137	152877	152877			31860	protein-coding gene	gene with protein product					NA		Standard	NM_001013622	NM_001013622	NA	Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000489363.1:c.797G>C	4.37:g.1656790C>G	ENSP00000419044:p.Ser266Thr	NA	Q6ZUL5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.723|7.723	0.697617|0.697617	0.15106|0.15106	.|.	.|.	ENSG00000174137|ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884|ENST00000489029	T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95|.	4.51|4.51	-5.78|-5.78	0.02362|0.02362	.|.	0.662582|.	0.12351|.	N|.	0.476531|.	T|T	0.27629|0.27629	0.0679|0.0679	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P|.	0.34757|.	0.372;0.467|.	B;B|.	0.32677|.	0.15;0.105|.	T|T	0.30179|0.30179	-0.9987|-0.9987	10|5	0.66056|.	D|.	0.02|.	-26.8945|-26.8945	4.7646|4.7646	0.13127|0.13127	0.1041:0.1229:0.124:0.649|0.1041:0.1229:0.124:0.649	.|.	266;266|.	Q6NSI3;C9JYQ7|.	FA53A_HUMAN;.|.	T|L	266|116	ENSP00000310057:S266T;ENSP00000419044:S266T;ENSP00000418243:S266T;ENSP00000426260:S266T|.	ENSP00000310057:S266T|.	S|V	-|-	2|1	0|0	FAM53A|FAM53A	1626587|1626587	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.064000|0.064000	0.16182|0.16182	0.666000|0.666000	0.25097|0.25097	-1.332000|-1.332000	0.02249|0.02249	0.563000|0.563000	0.77884|0.77884	AGT|GTG	FAM53A-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000357744.1		-	ENST00000489363.1	Missense_Mutation	SNP	4 : 1656790 - 1656790 G PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	146	18
FANCD2	2177	broad.mit.edu	37	3	10123132	10123132	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:10123132C>A	ENST00000287647.3	+	32	3301	c.3208C>A	c.(3208-3210)Cat>Aat	p.H1070N	FANCD2_ENST00000383807.1_Missense_Mutation_p.H1070N|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000419585.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000383806.1_Missense_Mutation_p.H1070N|FANCD2OS_ENST00000524279.1_3'UTR	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1070					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAGATTTTTCATGGGCTTTT	0.423		NA	D, Mis, N, F			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia D2	3	3p26	2177	Fanconi anemia, complementation group D2		L	0													216	213	214			NA	NA	3		NA											NA				10123132		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554	2177	2177		Fanconi anemia, complementation groups	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD	NA	7581463, 11239453, 18475298	Standard		XM_005264946	NA	Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000287647.3:c.3208C>A	3.37:g.10123132C>A	ENSP00000287647:p.His1070Asn	NA	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	37	CCDS2595.1	.	.	.	.	.	.	.	.	.	.	C	6.470	0.454949	0.12283	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.75	3.04	0.35103	.	0.314743	0.37623	N	0.002011	T	0.33614	0.0869	L	0.39020	1.185	0.09310	N	0.999992	B;B	0.13145	0.007;0.007	B;B	0.14023	0.006;0.01	T	0.20107	-1.0285	10	0.14656	T	0.56	.	10.4471	0.44501	0.0:0.8063:0.0:0.1937	.	1070;1070	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	N	1070	ENSP00000287647:H1070N;ENSP00000373318:H1070N;ENSP00000373317:H1070N;ENSP00000398754:H1070N	ENSP00000287647:H1070N	H	+	1	0	FANCD2	10098132	0.679000	0.27596	0.008000	0.14137	0.983000	0.72400	2.200000	0.42724	0.386000	0.24997	-0.125000	0.14975	CAT	FANCD2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250562.2		+	ENST00000287647.3	Missense_Mutation	SNP	3 : 10123132 - 10123132 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	998	14
FANCI	55215	broad.mit.edu	37	15	89828362	89828362	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:89828362C>A	ENST00000310775.7	+	18	1820	c.1734C>A	c.(1732-1734)gtC>gtA	p.V578V	FANCI_ENST00000300027.8_Silent_p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	578					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACAATTCTGTCGCCAATGAAA	0.423		NA						Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	186	196			NA	NA	15		NA											NA				89828362		2200	4299	6499	SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525	55215	55215		Fanconi anemia, complementation groups	25568	protein-coding gene	gene with protein product		611360	KIAA1794	KIAA1794	NA	14630800, 17460694, 17412408	Standard	NM_018193	NM_001113378	NA	Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1734C>A	15.37:g.89828362C>A		NA	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	37	CCDS45346.1																																																																																			FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421140.1		+	ENST00000310775.7	Silent	SNP	15 : 89828362 - 89828362 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	662	11
FANCM	57697	broad.mit.edu	37	14	45605717	45605717	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:45605717G>A	ENST00000542564.2	+	1	561	c.483G>A	c.(481-483)ccG>ccA	p.P161P	FANCM_ENST00000267430.5_Silent_p.P161P|FANCM_ENST00000556036.1_Silent_p.P161P			Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	161	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGGTATCCCGCAATCCCACA	0.502		NA						Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	62			NA	NA	14		NA											NA				45605717		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790	57697	57697		Fanconi anemia, complementation groups	23168	protein-coding gene	gene with protein product		609644	KIAA1596	KIAA1596	NA	10997877, 16116422	Standard	XM_048128	NM_020937	NA	Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000542564.2:c.483G>A	14.37:g.45605717G>A		NA	Q3YFH9|Q8N9X6|Q9HCH6	37																																																																																				FANCM-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410475.1		+	ENST00000542564.2	Silent	SNP	14 : 45605717 - 45605717 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	287	6
FBN2	2201	broad.mit.edu	37	5	127730895	127730895	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:127730895G>A	ENST00000508053.1	-	15	2125	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	FBN2_ENST00000262464.4_Missense_Mutation_p.T384M|FBN2_ENST00000508989.1_Missense_Mutation_p.T351M			P35556	FBN2_HUMAN	fibrillin 2	384	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCATTTTCGTCATTCTCCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	0,4406		0,0,2203	87	80	82		1151	4.4	1	5		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	81	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	384/2913	127730895	1,13005	2203	4300	6503	SO:0001583	missense			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829	2201	2201			3604	protein-coding gene	gene with protein product	fibrillin 5	612570	congenital contractural arachnodactyly	CCA	NA	1852206, 8120105	Standard	NM_001999	NM_001999	NA	Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1151C>T	5.37:g.127730895G>A	ENSP00000424571:p.Thr384Met	NA	B4DU01|Q59ES6	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892566	0.52121	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.95412	-3.7;-3.7;-3.7	4.44	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.176842	0.36303	N	0.002669	D	0.97586	0.9209	M	0.86502	2.82	0.42420	D	0.992637	D;D	0.71674	0.998;0.984	P;P	0.60345	0.873;0.739	D	0.98218	1.0476	10	0.66056	D	0.02	.	18.389	0.90475	0.0:0.0:1.0:0.0	.	351;384	D6RJI3;P35556	.;FBN2_HUMAN	M	384;384;351	ENSP00000262464:T384M;ENSP00000424571:T384M;ENSP00000425596:T351M	ENSP00000262464:T384M	T	-	2	0	FBN2	127758794	1.000000	0.71417	0.959000	0.39883	0.816000	0.46133	5.699000	0.68310	2.750000	0.94351	0.655000	0.94253	ACG	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371618.2		-	ENST00000508053.1	Missense_Mutation	SNP	5 : 127730895 - 127730895 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	209	23
FLG	2312	broad.mit.edu	37	1	152277569	152277569	+	Missense_Mutation	SNP	C	C	A	rs144217264		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152277569C>A	ENST00000368799.1	-	3	9828	c.9793G>T	c.(9793-9795)Ggg>Tgg	p.G3265W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTGCCCGTGACCGGCT	0.582		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													263	266	265			NA	NA	1		NA											NA				152277569		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9793G>T	1.37:g.152277569C>A	ENSP00000357789:p.Gly3265Trp	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090737	0.20471	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01145	5.27	2.33	2.33	0.28932	.	.	.	.	.	T	0.02193	0.0068	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44528	-0.9322	9	0.72032	D	0.01	-5.3773	8.176	0.31283	0.0:1.0:0.0:0.0	.	3265	P20930	FILA_HUMAN	W	3265;203	ENSP00000357789:G3265W	ENSP00000357786:G203W	G	-	1	0	FLG	150544193	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.064000	0.11636	1.305000	0.44909	0.449000	0.29647	GGG	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152277569 - 152277569 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1429	11
FLG	2312	broad.mit.edu	37	1	152278046	152278046	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152278046C>A	ENST00000368799.1	-	3	9351	c.9316G>T	c.(9316-9318)Ggt>Tgt	p.G3106C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3106	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCTGACCGTATTGGGAT	0.597		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	253	235			NA	NA	1		NA											NA				152278046		1968	4219	6187	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9316G>T	1.37:g.152278046C>A	ENSP00000357789:p.Gly3106Cys	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393587	0.25205	.	.	ENSG00000143631	ENST00000368799	T	0.07800	3.16	4.17	-3.75	0.04372	.	.	.	.	.	T	0.05181	0.0138	M	0.77616	2.38	0.09310	N	1	D	0.60575	0.988	P	0.45639	0.488	T	0.18777	-1.0326	9	0.56958	D	0.05	.	8.0889	0.30788	0.0:0.2914:0.5653:0.1432	.	3106	P20930	FILA_HUMAN	C	3106	ENSP00000357789:G3106C	ENSP00000357789:G3106C	G	-	1	0	FLG	150544670	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.414000	0.07114	-0.500000	0.06614	0.449000	0.29647	GGT	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152278046 - 152278046 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1230	11
FRMD4A	55691	broad.mit.edu	37	10	13712473	13712473	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:13712473G>T	ENST00000357447.2	-	17	1675	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H|FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	436						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCGAACAATGGGTGGTTCCTC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	158	162			NA	NA	10		NA											NA				13712473		2203	4300	6503	SO:0001583	missense			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474	55691	55691			25491	protein-coding gene	gene with protein product			FERM domain containing 4	FRMD4	NA	10718198	Standard	NM_018027	NM_018027	NA	Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1307C>A	10.37:g.13712473G>T	ENSP00000350032:p.Pro436His	NA	A7E2Y3|Q5T377	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874849	0.91664	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.88201	-2.34;-2.35;-2.35;-2.14	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93758	0.7064	10	0.72032	D	0.01	-23.2153	18.8905	0.92399	0.0:0.0:1.0:0.0	.	469;436	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	H	421;436;436;469	ENSP00000351438:P421H;ENSP00000350032:P436H;ENSP00000367764:P436H;ENSP00000264546:P469H	ENSP00000264546:P469H	P	-	2	0	FRMD4A	13752479	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	9.610000	0.98337	2.707000	0.92482	0.655000	0.94253	CCC	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046889.1		-	ENST00000357447.2	Missense_Mutation	SNP	10 : 13712473 - 13712473 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	353	7
FRMPD4	9758	broad.mit.edu	37	X	12736390	12736390	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:12736390C>A	ENST00000380682.1	+	16	3951	c.3445C>A	c.(3445-3447)Cgc>Agc	p.R1149S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1149					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAGGGGACCGCTTCTTAAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	164	169			NA	NA	X		NA											NA				12736390		2203	4300	6503	SO:0001583	missense			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933	9758	9758			29007	protein-coding gene	gene with protein product		300838	PDZ domain containing 10	PDZK10, PDZD10	NA	9205841	Standard	XM_045712	NM_014728	NA	Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3445C>A	X.37:g.12736390C>A	ENSP00000370057:p.Arg1149Ser	NA	A8K0X9|O15032	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	4.574	0.106565	0.08780	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05382	3.45	5.4	3.44	0.39384	.	0.470669	0.24506	N	0.037922	T	0.02494	0.0076	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47114	-0.9142	10	0.12430	T	0.62	-3.5221	7.3842	0.26872	0.299:0.6019:0.0:0.0991	.	1141;1149	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	1149;1140;1138	ENSP00000370057:R1149S	ENSP00000304583:R1138S	R	+	1	0	FRMPD4	12646311	0.028000	0.19301	0.989000	0.46669	0.915000	0.54546	1.772000	0.38552	1.052000	0.40392	0.600000	0.82982	CGC	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055771.1		+	ENST00000380682.1	Missense_Mutation	SNP	X : 12736390 - 12736390 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1018	12
GABRA2	2555	broad.mit.edu	37	4	46305547	46305547	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:46305547G>T	ENST00000507069.1	-	7	792	c.786C>A	c.(784-786)atC>atA	p.I262I	GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000356504.1_Silent_p.I262I|GABRA2_ENST00000510861.1_Silent_p.I262I|GABRA2_ENST00000514090.1_Silent_p.I262I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	262					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGACAGTCATGATGCAAGGCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	134	135			NA	NA	4		NA											NA				46305547		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834	2555	2555		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4076	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 2	137140			NA		Standard		NM_000807	NA	Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000507069.1:c.786C>A	4.37:g.46305547G>T		NA	Q59G14	37																																																																																				GABRA2-013	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363658.1		-	ENST00000507069.1	Silent	SNP	4 : 46305547 - 46305547 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	492	57
GALNTL5	168391	broad.mit.edu	37	7	151716785	151716785	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:151716785C>A	ENST00000392800.2	+	9	1485	c.1231C>A	c.(1231-1233)Cgc>Agc	p.R411S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R411S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	411						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R411C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CGGAAATATTCGCGAGCGTGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											111	107	108			NA	NA	7		NA											NA				151716785		2203	4300	6503	SO:0001583	missense			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648	168391	168391		Glycosyltransferase family 2 domain containing	21725	protein-coding gene	gene with protein product	polypeptide GalNAc transferase-like 5	615133	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	GALNT15	NA		Standard	NM_145292	NM_145292	NA	Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1231C>A	7.37:g.151716785C>A	ENSP00000376548:p.Arg411Ser	NA	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.373640	0.00207	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.12774	2.65;2.65	4.91	3.75	0.43078	.	0.461817	0.20658	N	0.088078	T	0.01730	0.0055	N	0.00029	-2.615	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39800	-0.9596	10	0.02654	T	1	.	8.7063	0.34356	0.8032:0.1968:0.0:0.0	.	162;411	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	S	411	ENSP00000392582:R411S;ENSP00000376548:R411S	ENSP00000376548:R411S	R	+	1	0	GALNTL5	151347718	0.259000	0.24043	0.003000	0.11579	0.001000	0.01503	1.930000	0.40124	0.880000	0.35969	-0.275000	0.10095	CGC	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348395.1		+	ENST00000392800.2	Missense_Mutation	SNP	7 : 151716785 - 151716785 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	467	11
GATA2	2624	broad.mit.edu	37	3	128200016	128200016	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:128200016G>T	ENST00000341105.2	-	6	1620	c.1289C>A	c.(1288-1290)gCa>gAa	p.A430E	GATA2_ENST00000430265.2_Missense_Mutation_p.A416E|GATA2_ENST00000487848.1_Missense_Mutation_p.A430E|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	430					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CAGGGCAGCTGCACTGAAGGG	0.612		NA	Mis		AML(CML blast transformation)									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													131	114	119			NA	NA	3		NA											NA				128200016		2203	4300	6503	SO:0001583	missense			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348	2624	2624		GATA zinc finger domain containing	4171	protein-coding gene	gene with protein product		137295	GATA-binding protein 2		NA	1714909	Standard	NM_032638	NM_032638	NA	Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1289C>A	3.37:g.128200016G>T	ENSP00000345681:p.Ala430Glu	NA	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	37	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846692	0.51164	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97303	-4.33;-4.32;-4.33	4.77	4.77	0.60923	.	0.238659	0.42294	D	0.000725	D	0.94202	0.8139	L	0.29908	0.895	0.50039	D	0.999841	P;B	0.36535	0.557;0.049	B;B	0.36845	0.234;0.044	D	0.93760	0.7066	10	0.36615	T	0.2	-15.2932	18.1584	0.89701	0.0:0.0:1.0:0.0	.	416;430	P23769-2;P23769	.;GATA2_HUMAN	E	430;416;430	ENSP00000345681:A430E;ENSP00000400259:A416E;ENSP00000417074:A430E	ENSP00000345681:A430E	A	-	2	0	GATA2	129682706	1.000000	0.71417	0.603000	0.28903	0.746000	0.42486	3.841000	0.55850	2.355000	0.79922	0.491000	0.48974	GCA	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356925.1		-	ENST00000341105.2	Missense_Mutation	SNP	3 : 128200016 - 128200016 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	368	33
GDI2	2665	broad.mit.edu	37	10	5827938	5827938	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:5827938G>T	ENST00000380191.4	-	5	754	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q|GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	155					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAAAGTTCTTGGATCTTTTTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	122	123			NA	NA	10		NA											NA				5827938		2203	4300	6503	SO:0001583	missense			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608	2665	2665			4227	protein-coding gene	gene with protein product	rab GDP-dissociation	600767			NA	9434952	Standard	NM_001494	NM_001494	NA	Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.464C>A	10.37:g.5827938G>T	ENSP00000369538:p.Pro155Gln	NA	O43928|Q9UQM6	37	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396501	0.42512	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.31	5.31	0.75309	.	0.364847	0.34932	N	0.003574	T	0.69278	0.3093	M	0.86420	2.815	0.80722	D	1	B;B;B	0.19331	0.035;0.025;0.008	B;B;B	0.31442	0.117;0.13;0.073	T	0.70572	-0.4835	10	0.66056	D	0.02	-11.3866	18.9459	0.92622	0.0:0.0:1.0:0.0	.	159;110;155	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	Q	155;159;110;145;119	ENSP00000369538:P155Q;ENSP00000369475:P159Q;ENSP00000369528:P110Q;ENSP00000401733:P145Q;ENSP00000394177:P119Q	ENSP00000369475:P159Q	P	-	2	0	GDI2	5867944	1.000000	0.71417	0.149000	0.22428	0.114000	0.19823	9.668000	0.98619	2.653000	0.90120	0.655000	0.94253	CCA	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046580.1		-	ENST00000380191.4	Missense_Mutation	SNP	10 : 5827938 - 5827938 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	456	7
GJA8	2703	broad.mit.edu	37	1	147381108	147381108	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:147381108C>T	ENST00000369235.1	+	1	1026	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	GJA8_ENST00000240986.4_Silent_p.A342A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	342					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGGAGGGAGCCGAACCCGAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(76;1255 1795 8195 52096)							NA				0													33	32	32			NA	NA	1		NA											NA				147381108		2202	4299	6501	SO:0001819	synonymous_variant			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634	2703	2703		Ion channels / Gap junction proteins (connexins)	4281	protein-coding gene	gene with protein product	connexin 50	600897	gap junction protein, alpha 8, 50kD (connexin 50), gap junction protein, alpha 8, 50kDa (connexin 50)	CAE1, CZP1, CAE	NA	9497259, 7796604	Standard	NM_005267	NM_005267	NA	Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1026C>T	1.37:g.147381108C>T		NA	A7L5M5|Q5VVN9|Q9NP25	37	CCDS30834.1																																																																																			GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060647.1		+	ENST00000369235.1	Silent	SNP	1 : 147381108 - 147381108 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	27	3
GOLGB1	2804	broad.mit.edu	37	3	121410027	121410027	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121410027G>T	ENST00000393667.3	-	14	8294	c.8184C>A	c.(8182-8184)acC>acA	p.T2728T	GOLGB1_ENST00000340645.5_Silent_p.T2723T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2723					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TATTTTCTTTGGTGACCATGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													237	244	242			NA	NA	3		NA											NA				121410027		2203	4300	6503	SO:0001819	synonymous_variant			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230	2804	2804			4429	protein-coding gene	gene with protein product	macrogolgin, golgi integral membrane protein 1	602500	golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1, golgin B1, golgi integral membrane protein		NA	7691276, 15004235	Standard	NM_004487	NM_001256486	NA	Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000393667.3:c.8184C>A	3.37:g.121410027G>T		NA	D3DN92|Q14398	37	CCDS58847.1																																																																																			GOLGB1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355160.1		-	ENST00000393667.3	Silent	SNP	3 : 121410027 - 121410027 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	960	12
GPR107	57720	broad.mit.edu	37	9	132854660	132854660	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:132854660G>T	ENST00000372406.1	+	9	1370	c.863G>T	c.(862-864)cGg>cTg	p.R288L	GPR107_ENST00000347136.6_Splice_Site_p.R288L|GPR107_ENST00000372410.3_Splice_Site_p.R288L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	288						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CGAAAACGACGGTAAACTATT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	123	124			NA	NA	9		NA											NA				132854660		2203	4300	6503	SO:0001630	splice_region_variant			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358	NA	57720		GPCR / Unclassified : 7TM orphan receptors	17830	protein-coding gene	gene with protein product					NA		Standard		NM_020960	NA	Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.863+1G>T	9.37:g.132854660G>T		NA	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	37	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842525	0.71488	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.26810	1.71;1.74;1.74	5.56	5.56	0.83823	.	0.081892	0.48286	D	0.000183	T	0.26304	0.0642	L	0.46157	1.445	0.58432	D	0.999999	B;B;B	0.19200	0.01;0.034;0.004	B;B;B	0.26416	0.011;0.069;0.01	T	0.07271	-1.0781	10	0.11794	T	0.64	-11.1396	18.183	0.89785	0.0:0.0:1.0:0.0	.	288;288;288	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	L	288	ENSP00000361483:R288L;ENSP00000336988:R288L;ENSP00000361487:R288L	ENSP00000336988:R288L	R	+	2	0	GPR107	131894481	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	6.612000	0.74187	2.638000	0.89438	0.603000	0.83216	CGG	GPR107-003	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054643.2	Missense_Mutation	+	ENST00000372406.1	Splice_Site	SNP	9 : 132854660 - 132854660 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	606	8
GRM4	2914	broad.mit.edu	37	6	34003600	34003600	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:34003600G>A	ENST00000538487.2	-	9	2730	c.2287C>T	c.(2287-2289)Ctc>Ttc	p.L763F	GRM4_ENST00000374181.4_Missense_Mutation_p.L763F|GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000544773.2_Missense_Mutation_p.L594F|GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.L623F|GRM4_ENST00000609222.1_Missense_Mutation_p.L630F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	NA					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTGACCATGAGCAGCATGCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	87	96			NA	NA	6		NA											NA				34003600		2203	4300	6503	SO:0001583	missense			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493	2914	2914		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4596	protein-coding gene	gene with protein product		604100			NA	8738157, 9473604	Standard		NM_000841	NA	Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2287C>T	6.37:g.34003600G>A	ENSP00000440556:p.Leu763Phe	NA	Q5SZ84	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976898	0.74360	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	4.47	3.6	0.41247	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;1.0	D;D;D;D;D	0.85130	0.989;0.997;0.997;0.959;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	12.6781	0.56906	0.0805:0.0:0.9195:0.0	.	716;594;623;763;630	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	F	763;647;455;630;594;763;623	ENSP00000363296:L763F;ENSP00000363292:L647F;ENSP00000445533:L455F;ENSP00000437925:L630F;ENSP00000437730:L594F;ENSP00000440556:L763F;ENSP00000398456:L623F	ENSP00000363292:L647F	L	-	1	0	GRM4	34111578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.728000	0.84847	1.087000	0.41251	0.455000	0.32223	CTC	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040213.2		-	ENST00000538487.2	Missense_Mutation	SNP	6 : 34003600 - 34003600 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	204	21
GTF2H2C	728340	broad.mit.edu	37	5	68875685	68875685	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68875685C>A	ENST00000510979.1	+	11	946	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	GTF2H2C_ENST00000514162.1_Intron|GTF2H2C_ENST00000508344.2_Missense_Mutation_p.R194S|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.R251S	NM_001098728.1	NP_001092198.1	Q6P1K8	T2H2L_HUMAN	GTF2H2 family member C	251					DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(1)|lung(1)	2						CTCACTTATTCGTATGGGTAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	196	191			NA	NA	5		NA											NA				68875685		2197	4295	6492	SO:0001583	missense				CCDS43325.1	5q13.2	2014-03-28	2014-03-28		ENSG00000183474	ENSG00000183474	728340	728340			31394	protein-coding gene	gene with protein product			general transcription factor IIH, polypeptide 2C		NA		Standard	NM_001098728	NM_001098728	NA	Approved		uc003jwz.4	Q6P1K8	OTTHUMG00000162365	ENST00000510979.1:c.751C>A	5.37:g.68875685C>A	ENSP00000422907:p.Arg251Ser	NA	A6NED9|A8K8J6|B2RCU4|B7ZW39	37	CCDS43325.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455751	0.63401	.	.	ENSG00000183474	ENST00000510979;ENST00000380729;ENST00000508344;ENST00000507595	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	2.83	2.83	0.33086	Ssl1-like (1);	0.111886	0.64402	D	0.000007	T	0.49813	0.1579	M	0.86178	2.8	0.80722	D	1	P	0.43662	0.814	P	0.53518	0.728	T	0.56312	-0.8000	9	.	.	.	-0.779	11.5675	0.50813	0.0:1.0:0.0:0.0	.	251	Q6P1K8	T2H2L_HUMAN	S	251;251;194;234	ENSP00000422907:R251S;ENSP00000370105:R251S;ENSP00000423952:R194S;ENSP00000427456:R234S	.	R	+	1	0	GTF2H2C	68911441	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.622000	0.74233	1.907000	0.55213	0.549000	0.68633	CGT	GTF2H2C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368637.3		+	ENST00000510979.1	Missense_Mutation	SNP	5 : 68875685 - 68875685 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1492	15
HECTD4	283450	broad.mit.edu	37	12	112708208	112708208	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:112708208C>A	ENST00000550722.1	-	12	1961	c.1566G>T	c.(1564-1566)gcG>gcT	p.A522A	HECTD4_ENST00000377560.5_Silent_p.A484A|HECTD4_ENST00000430131.2_Silent_p.A234A	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4	NA											NA						GTATGCACATCGCACCAACGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													302	301	301			NA	NA	12		NA											NA				112708208		2203	4300	6503	SO:0001819	synonymous_variant			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064	283450	283450			26611	protein-coding gene	gene with protein product			chromosome 12 open reading frame 51	C12orf51	NA	21270382	Standard	NM_173813	NM_001109662	NA	Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000550722.1:c.1566G>T	12.37:g.112708208C>A		NA		37																																																																																				HECTD4-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000405222.1		-	ENST00000550722.1	Silent	SNP	12 : 112708208 - 112708208 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	917	9
HECW2	57520	broad.mit.edu	37	2	197090556	197090556	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:197090556A>G	ENST00000409111.1	-	21	3902	c.2888T>C	c.(2887-2889)aTa>aCa	p.I963T	HECW2_ENST00000260983.3_Missense_Mutation_p.I1319T			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1319	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATACTGGTGTATTAGTGCAAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	114	123			NA	NA	2		NA											NA				197090556		2203	4300	6503	SO:0001583	missense			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000409111.1:c.2888T>C	2.37:g.197090556A>G	ENSP00000386775:p.Ile963Thr	NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37		.	.	.	.	.	.	.	.	.	.	A	25.4	4.636658	0.87760	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.57907	0.37;0.37	5.17	5.17	0.71159	HECT (4);	0.089981	0.85682	D	0.000000	T	0.62429	0.2427	M	0.64997	1.995	0.80722	D	1	D	0.53619	0.961	P	0.52627	0.704	T	0.67581	-0.5634	10	0.87932	D	0	.	15.1845	0.72989	1.0:0.0:0.0:0.0	.	1319	Q9P2P5	HECW2_HUMAN	T	963;1319	ENSP00000386775:I963T;ENSP00000260983:I1319T	ENSP00000260983:I1319T	I	-	2	0	HECW2	196798801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.182000	0.69389	0.459000	0.35465	ATA	HECW2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335314.2		-	ENST00000409111.1	Missense_Mutation	SNP	2 : 197090556 - 197090556 G PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	447	46
HEXA	3073	broad.mit.edu	37	15	72668191	72668191	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72668191C>A	ENST00000566304.1	-	1	143	c.123G>T	c.(121-123)ccG>ccT	p.P41P	HEXA_ENST00000429918.2_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000567159.1_Silent_p.P41P|HEXA_ENST00000268097.5_Silent_p.P41P			P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	41					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GAAAGTTGTTCGGGTAAAGGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	150	145			NA	NA	15		NA											NA				72668191		2199	4297	6496	SO:0001819	synonymous_variant			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3073	3073	3.2.1.52		4878	protein-coding gene	gene with protein product	Tay Sachs disease, GM2 gangliosidosis	606869			NA	2952641, 3013851	Standard	NM_000520	NM_000520	NA	Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000566304.1:c.123G>T	15.37:g.72668191C>A		NA	Q53HS8|Q6AI32	37																																																																																				HEXA-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420190.1		-	ENST00000566304.1	Silent	SNP	15 : 72668191 - 72668191 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	701	12
HHIPL1	84439	broad.mit.edu	37	14	100123403	100123403	+	Silent	SNP	C	C	T	rs140994822		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	6,4400		0,6,2197	242	242	242		969,969	-6.3	0.8	14	dbSNP_134	242	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461	,	323/783,323/609	100123403	6,13000	2203	4300	6503	SO:0001819	synonymous_variant			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218	84439	84439			19710	protein-coding gene	gene with protein product			KIAA1822	KIAA1822	NA		Standard	XM_041566	NM_032425	NA	Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.969C>T	14.37:g.100123403C>T		NA	A2RUF8|B2RN09|Q6UXX2	37	CCDS45162.1																																																																																			HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413811.1		+	ENST00000330710.5	Silent	SNP	14 : 100123403 - 100123403 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1423	178
HTR1A	3350	broad.mit.edu	37	5	63257013	63257013	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:63257013C>A	ENST00000323865.3	-	1	767	c.534G>T	c.(532-534)ccG>ccT	p.P178P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	178					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGCGGTCTTCCGGGGTGCGCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	127	121			NA	NA	5		NA											NA				63257013		2203	4300	6503	SO:0001819	synonymous_variant			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394	3350	3350		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5286	protein-coding gene	gene with protein product		109760	5-hydroxytryptamine (serotonin) receptor 1A	ADRB2RL1, ADRBRL1	NA	2591972, 12969265	Standard	NM_000524	NM_000524	NA	Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.534G>T	5.37:g.63257013C>A		NA	Q6LAE7	37	CCDS34168.1																																																																																			HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368397.1		-	ENST00000323865.3	Silent	SNP	5 : 63257013 - 63257013 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	805	8
HTR2C	3358	broad.mit.edu	37	X	114141360	114141360	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:114141360C>A	ENST00000276198.1	+	6	1487	c.759C>A	c.(757-759)acC>acA	p.T253T	HTR2C_ENST00000371950.3_Silent_p.R222R|HTR2C_ENST00000371951.1_Silent_p.T253T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	253					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.T253T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACGGCCACACCGAGGAACCGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	urinary_tract(1)											234	215	222			NA	NA	X		NA											NA				114141360		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246	3358	3358		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5295	protein-coding gene	gene with protein product		312861	5-hydroxytryptamine (serotonin) receptor 2C	HTR1C	NA	7895773	Standard	NM_000868	NM_000868	NA	Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.759C>A	X.37:g.114141360C>A		NA	Q5VUF8|Q9NP28	37	CCDS14564.1																																																																																			HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057962.1		+	ENST00000276198.1	Silent	SNP	X : 114141360 - 114141360 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1170	11
HUNK	30811	broad.mit.edu	37	21	33312484	33312484	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:33312484A>G	ENST00000270112.2	+	3	922	c.562A>G	c.(562-564)Aag>Gag	p.K188E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	188	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGAGACTTGAAGATAGAGAA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	121	123			NA	NA	21		NA											NA				33312484		2201	4298	6499	SO:0001583	missense			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149	30811	30811			13326	protein-coding gene	gene with protein product		606532	hormonally upregulated Neu-associated kinase		NA	10662544, 10830953	Standard	NM_014586	NM_014586	NA	Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.562A>G	21.37:g.33312484A>G	ENSP00000270112:p.Lys188Glu	NA		37	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698055	0.88830	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	D;D	0.91068	-2.78;-2.78	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.99863	4.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	-36.0584	15.5563	0.76196	1.0:0.0:0.0:0.0	.	188	P57058	HUNK_HUMAN	E	188;73	ENSP00000270112:K188E;ENSP00000411860:K73E	ENSP00000270112:K188E	K	+	1	0	HUNK	32234355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.186000	0.89706	2.317000	0.78254	0.460000	0.39030	AAG	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192782.1		+	ENST00000270112.2	Missense_Mutation	SNP	21 : 33312484 - 33312484 G PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	324	15
IDH3G	3421	broad.mit.edu	37	X	153053545	153053545	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:153053545C>A	ENST00000370092.3	-	6	577	c.392G>T	c.(391-393)cGa>cTa	p.R131L	IDH3G_ENST00000370093.1_Missense_Mutation_p.R131L|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_Missense_Mutation_p.R73L|IDH3G_ENST00000217901.5_Missense_Mutation_p.R131L	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	131					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.R131Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GATGTTGTTTCGAGATTTGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											247	218	228			NA	NA	X		NA											NA				153053545		2203	4300	6503	SO:0001583	missense				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	3421	3421	1.1.1.41		5386	protein-coding gene	gene with protein product		300089			NA	9286695	Standard		NM_004135	NA	Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000370092.3:c.392G>T	X.37:g.153053545C>A	ENSP00000359110:p.Arg131Leu	NA	Q9BUU5	37	CCDS44019.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576108	0.45902	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.74	4.85	0.62838	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	N	0.20445	0.575	0.80722	D	1	B;P	0.45827	0.145;0.867	B;B	0.38880	0.111;0.284	T	0.53019	-0.8497	10	0.02654	T	1	.	14.6761	0.68981	0.0:0.8583:0.1417:0.0	.	131;131	E9PDD5;P51553	.;IDH3G_HUMAN	L	131;131;131;73;27;108;71	ENSP00000359110:R131L;ENSP00000217901:R131L;ENSP00000359111:R131L;ENSP00000408529:R73L;ENSP00000401862:R108L;ENSP00000402747:R71L	ENSP00000217901:R131L	R	-	2	0	IDH3G	152706739	1.000000	0.71417	0.994000	0.49952	0.861000	0.49209	7.559000	0.82265	2.411000	0.81874	0.529000	0.55759	CGA	IDH3G-014	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354484.1		-	ENST00000370092.3	Missense_Mutation	SNP	X : 153053545 - 153053545 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1366	12
IKBKAP	8518	broad.mit.edu	37	9	111678495	111678495	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111678495G>T	ENST00000374647.5	-	10	1254	c.947C>A	c.(946-948)cCg>cAg	p.P316Q	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	316					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGGTTTTCGGAATGGAGCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	140	139			NA	NA	9		NA											NA				111678495		2203	4300	6503	SO:0001583	missense			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061	8518	8518		Elongator acetyltransferase complex subunits	5959	protein-coding gene	gene with protein product	elongator acetyltransferase complex subunit 1	603722	dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)	DYS	NA	9751059, 11179008	Standard		NM_003640	NA	Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.947C>A	9.37:g.111678495G>T	ENSP00000363779:p.Pro316Gln	NA	Q5JSV2|Q9H327|Q9UG87	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337794	0.24253	.	.	ENSG00000070061	ENST00000374647	T	0.20200	2.09	5.61	-1.68	0.08212	.	0.937565	0.09059	N	0.854523	T	0.28267	0.0698	L	0.58101	1.795	0.09310	N	0.999999	D	0.53462	0.96	P	0.58873	0.847	T	0.33471	-0.9867	10	0.13108	T	0.6	0.1594	4.912	0.13827	0.3142:0.3299:0.3559:0.0	.	316	O95163	ELP1_HUMAN	Q	316	ENSP00000363779:P316Q	ENSP00000363779:P316Q	P	-	2	0	IKBKAP	110718316	0.083000	0.21467	0.028000	0.17463	0.086000	0.17979	0.861000	0.27885	-0.103000	0.12175	-1.004000	0.02495	CCG	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053574.1		-	ENST00000374647.5	Missense_Mutation	SNP	9 : 111678495 - 111678495 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	491	10
IKZF1	10320	broad.mit.edu	37	7	50455075	50455075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:50455075C>T	ENST00000331340.3	+	6	777	c.622C>T	c.(622-624)Cga>Tga	p.R208*	IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000439701.1_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ATATTGTGGCCGAAGCTATAA	0.473		NA	D,T	BCL6	ALL, DLBCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec,Dom	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)											55	55	55			NA	NA	7		NA											NA				50455075		1865	4095	5960	SO:0001587	stop_gained			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811	10320	10320		Zinc fingers, C2H2-type, IKAROS zinc fingers	13176	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 92	603023	zinc finger protein, subfamily 1A, 1 (Ikaros)	ZNFN1A1	NA	1439790, 7935426	Standard	NM_006060	NM_006060	NA	Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.622C>T	7.37:g.50455075C>T	ENSP00000331614:p.Arg208*	NA	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q8WVA3	37		.	.	.	.	.	.	.	.	.	.	C	39	7.427115	0.98279	.	.	ENSG00000185811	ENST00000343574;ENST00000331340;ENST00000438033	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6208	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	121;208;121	.	ENSP00000331614:R208X	R	+	1	2	IKZF1	50422569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	CGA	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000342242.1		+	ENST00000331340.3	Nonsense_Mutation	SNP	7 : 50455075 - 50455075 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	158	20
KDELC1	79070	broad.mit.edu	37	13	103443642	103443642	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103443642C>A	ENST00000376004.4	-	5	1147	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	271						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCAGTCAAATCGTACGTAGGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	276	271			NA	NA	13		NA											NA				103443642		2203	4300	6503	SO:0001583	missense			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901	79070	79070			19350	protein-coding gene	gene with protein product		611613			NA		Standard		NM_024089	NA	Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.811G>T	13.37:g.103443642C>A	ENSP00000365172:p.Asp271Tyr	NA	Q53HL3|Q9BVD2	37	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078147	0.76528	.	.	ENSG00000134901	ENST00000376004	T	0.24723	1.84	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61262	-0.7098	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	271	Q6UW63	KDEL1_HUMAN	Y	271	ENSP00000365172:D271Y	ENSP00000365172:D271Y	D	-	1	0	KDELC1	102241643	1.000000	0.71417	0.884000	0.34674	0.466000	0.32739	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAT	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045699.1		-	ENST00000376004.4	Missense_Mutation	SNP	13 : 103443642 - 103443642 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1214	12
KIAA1432	0	broad.mit.edu	37	9	5763327	5763327	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:5763327G>T	ENST00000414202.2	+	19	2491	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L|KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		767						integral to membrane		p.R688L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTGTCCCAGCGGATCATGCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											243	220	228			NA	NA	9		NA											NA				5763327		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000414202.2:c.2300G>T	9.37:g.5763327G>T	ENSP00000416696:p.Arg767Leu	NA	Q4VXJ8|Q4VXJ9|Q76MT5|Q8N6E0|Q8TEH4|Q9H0A5|Q9H9S1	37	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794235	0.90453	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.78	5.78	0.91487	Ribosome control protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.997	D	0.85507	0.1195	9	0.51188	T	0.08	-19.9006	20.0079	0.97439	0.0:0.0:1.0:0.0	.	651;688;767;767	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	L	767;767;688;688;651	.	ENSP00000251879:R767L	R	+	2	0	KIAA1432	5753327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.726000	0.93360	0.561000	0.74099	CGG	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051636.3		+	ENST00000414202.2	Missense_Mutation	SNP	9 : 5763327 - 5763327 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	835	9
KIF2C	11004	broad.mit.edu	37	1	45219408	45219408	+	Missense_Mutation	SNP	G	G	T	rs150604746		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:45219408G>T	ENST00000372217.1	+	6	755	c.404G>T	c.(403-405)cGg>cTg	p.R135L	KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L|KIF2C_ENST00000372224.4_Missense_Mutation_p.R189L|KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L|KIF2C_ENST00000493027.1_3'UTR			Q99661	KIF2C_HUMAN	kinesin family member 2C	189	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTCATAGTTCGGAGGAAATCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	66	63			NA	NA	1		NA											NA				45219408		2203	4300	6503	SO:0001583	missense			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945	11004	11004		Kinesins	6393	protein-coding gene	gene with protein product		604538	kinesin-like 6 (mitotic centromere-associated kinesin)	KNSL6	NA	9434124	Standard	NM_006845	NM_006845	NA	Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372217.1:c.404G>T	1.37:g.45219408G>T	ENSP00000361291:p.Arg135Leu	NA	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	37		.	.	.	.	.	.	.	.	.	.	g	32	5.129278	0.94473	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T;T;T	0.75589	1.03;-0.94;-0.77;0.76;-0.92;-0.95	6.08	6.08	0.98989	.	0.055839	0.64402	D	0.000002	T	0.76630	0.4014	L	0.38175	1.15	0.53005	D	0.999969	B;P;P	0.47762	0.244;0.9;0.839	B;P;P	0.51135	0.098;0.66;0.542	T	0.76908	-0.2785	10	0.59425	D	0.04	.	19.2272	0.93822	0.0:0.0:1.0:0.0	.	148;135;189	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	L	148;189;148;180;76;135	ENSP00000410346:R148L;ENSP00000361298:R189L;ENSP00000361292:R148L;ENSP00000395050:R180L;ENSP00000361296:R76L;ENSP00000361291:R135L	ENSP00000361291:R135L	R	+	2	0	KIF2C	44991995	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.906000	0.87423	2.894000	0.99253	0.655000	0.94253	CGG	KIF2C-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000023181.1		+	ENST00000372217.1	Missense_Mutation	SNP	1 : 45219408 - 45219408 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	225	7
KLHDC2	23588	broad.mit.edu	37	14	50241390	50241390	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:50241390C>A	ENST00000557247.1	+	3	646	c.345C>A	c.(343-345)acC>acA	p.T115T	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Silent_p.T115T|KLHDC2_ENST00000298307.5_Silent_p.T115T			Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	115						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GAGGCAATACCAATAAGGTTA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	220	224			NA	NA	14		NA											NA				50241390		2203	4300	6503	SO:0001819	synonymous_variant			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516	23588	23588			20231	protein-coding gene	gene with protein product		611280			NA	11384994	Standard		NM_014315	NA	Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000557247.1:c.345C>A	14.37:g.50241390C>A		NA	B3KPF9|Q6IAF0|Q86TY9	37																																																																																				KLHDC2-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410650.1		+	ENST00000557247.1	Silent	SNP	14 : 50241390 - 50241390 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	853	10
KLHL22	84861	broad.mit.edu	37	22	20819390	20819390	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20819390C>T	ENST00000328879.4	-	4	1023	c.867G>A	c.(865-867)ccG>ccA	p.P289P	KLHL22_ENST00000440659.2_Silent_p.P146P	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	289					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCTCCGTTTGCGGGCTCTGCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	46	46	46		867	-10.8	0	22		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL22	NM_032775.3		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		289/635	20819390	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910	84861	84861		Kelch-like, BTB/POZ domain containing	25888	protein-coding gene	gene with protein product			kelch-like 22 (Drosophila)		NA	12477932	Standard	NM_032775	NM_032775	NA	Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.867G>A	22.37:g.20819390C>T		NA	A8K3Q4|A8MTV3|D3DX30|Q96B68|Q96KC6	37	CCDS13780.1																																																																																			KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320045.2		-	ENST00000328879.4	Silent	SNP	22 : 20819390 - 20819390 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	159	4
KLHL8	57563	broad.mit.edu	37	4	88084792	88084792	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:88084792C>A	ENST00000498875.2	-	10	1783	c.1514G>T	c.(1513-1515)tGg>tTg	p.W505L	KLHL8_ENST00000273963.5_Missense_Mutation_p.W581L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L|KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L			Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	581										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AACAAGCTCCCACCTGAAAAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	4		NA											NA				88084792		2203	4300	6503	SO:0001583	missense			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332	57563	57563		Kelch-like, BTB/POZ domain containing	18644	protein-coding gene	gene with protein product		611967	kelch-like 8 (Drosophila)		NA		Standard		XM_005263153	NA	Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000498875.2:c.1514G>T	4.37:g.88084792C>A	ENSP00000426451:p.Trp505Leu	NA	Q53XA3	37		.	.	.	.	.	.	.	.	.	.	C	31	5.081410	0.94050	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.7	5.7	0.88788	Galactose oxidase, beta-propeller (1);	0.061501	0.64402	D	0.000001	D	0.98899	0.9627	H	0.98178	4.165	0.80722	D	1	P;D;D	0.65815	0.896;0.986;0.995	P;P;D	0.67548	0.673;0.907;0.952	D	0.99437	1.0937	10	0.87932	D	0	.	18.0017	0.89199	0.0:1.0:0.0:0.0	.	398;505;581	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	L	581;505;398;230;581	ENSP00000273963:W581L;ENSP00000426451:W505L;ENSP00000408854:W398L;ENSP00000439514:W230L;ENSP00000424131:W581L	ENSP00000273963:W581L	W	-	2	0	KLHL8	88303816	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.476000	0.81055	2.693000	0.91896	0.467000	0.42956	TGG	KLHL8-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363203.1		-	ENST00000498875.2	Missense_Mutation	SNP	4 : 88084792 - 88084792 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	304	9
KLK13	26085	broad.mit.edu	37	19	51559890	51559890	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:51559890C>A	ENST00000595793.1	-	5	830	c.788G>T	c.(787-789)cGa>cTa	p.R263L	KLK13_ENST00000335422.3_Missense_Mutation_p.R111L|KLK13_ENST00000595547.1_Missense_Mutation_p.R190L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	263	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity	p.R263L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTCATATTTTCGGATTGTTTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											251	236	241			NA	NA	19		NA											NA				51559890		2203	4300	6503	SO:0001583	missense				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759	26085	26085		Kallikreins	6361	protein-coding gene	gene with protein product		605505	kallikrein 13		NA	16800724, 16800723	Standard	NM_015596	NM_015596	NA	Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.788G>T	19.37:g.51559890C>A	ENSP00000470555:p.Arg263Leu	NA	A7UNK6|Q9Y433	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111511	0.37242	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.93366	-3.21	3.78	-3.39	0.04868	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	1.340470	0.05170	N	0.499377	D	0.92061	0.7484	L	0.47016	1.485	0.09310	N	1	P;D;P	0.56287	0.678;0.975;0.671	B;P;B	0.50659	0.136;0.647;0.314	D	0.85149	0.0985	10	0.72032	D	0.01	.	8.6349	0.33941	0.0:0.3664:0.0:0.6336	.	111;190;263	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	L	263;111	ENSP00000334079:R111L	ENSP00000156476:R263L	R	-	2	0	KLK13	56251702	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.309000	0.08145	-0.518000	0.06452	-0.781000	0.03364	CGA	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464298.2		-	ENST00000595793.1	Missense_Mutation	SNP	19 : 51559890 - 51559890 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	913	10
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	413	25
KRT24	192666	broad.mit.edu	37	17	38857542	38857542	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:38857542C>T	ENST00000264651.2	-	3	761	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	235	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ACAGCTCGTTCTCATACCTGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(61;380 1051 14702 23642 31441)							NA				0													52	48	49			NA	NA	17		NA											NA				38857542		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916	192666	192666		-, Intermediate filaments type I, keratins (acidic)	18527	protein-coding gene	gene with protein product		607742			NA	16831889	Standard	NM_019016	NM_019016	NA	Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.705G>A	17.37:g.38857542C>T		NA	Q9NXG7	37	CCDS11372.1																																																																																			KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257217.1		-	ENST00000264651.2	Silent	SNP	17 : 38857542 - 38857542 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	192	21
KRT33B	3884	broad.mit.edu	37	17	39521158	39521158	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:39521158G>T	ENST00000251646.3	-	6	1019	c.970C>A	c.(970-972)Cag>Aag	p.Q324K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	324	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCGCCAGCTGGGACTCCACG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	55	53			NA	NA	17		NA											NA				39521158		2189	4296	6485	SO:0001583	missense			X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738	3884	3884		-, Intermediate filaments type I, keratins (acidic)	6451	protein-coding gene	gene with protein product	hard keratin type I 3II	602762	keratin, hair, acidic, 3B	KRTHA3B	NA	7565656, 16831889	Standard	NM_002279	NM_002279	NA	Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.970C>A	17.37:g.39521158G>T	ENSP00000251646:p.Gln324Lys	NA	O76010	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.304063	0.60305	.	.	ENSG00000131738	ENST00000251646	D	0.89196	-2.48	4.29	4.29	0.51040	Filament (1);	0.000000	0.64402	D	0.000010	D	0.95544	0.8552	H	0.97023	3.925	0.32020	N	0.600921	D	0.55172	0.97	P	0.59012	0.85	D	0.95999	0.8992	10	0.87932	D	0	.	14.3715	0.66843	0.0:0.1494:0.8506:0.0	.	324	Q14525	KT33B_HUMAN	K	324	ENSP00000251646:Q324K	ENSP00000251646:Q324K	Q	-	1	0	KRT33B	36774684	0.605000	0.26941	0.960000	0.40013	0.526000	0.34562	0.833000	0.27504	2.666000	0.90696	0.650000	0.86243	CAG	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257292.1		-	ENST00000251646.3	Missense_Mutation	SNP	17 : 39521158 - 39521158 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	291	16
LDHAL6B	92483	broad.mit.edu	37	15	59499329	59499329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:59499329G>T	ENST00000307144.4	+	1	288	c.190G>T	c.(190-192)Gag>Tag	p.E64*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	64					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TTTCACTTCCGAGAAGCCCGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	108	112			NA	NA	15		NA											NA				59499329		2191	4290	6481	SO:0001587	stop_gained			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989	92483	92483			21481	protein-coding gene	gene with protein product			lactate dehydrogenase A-like 6	LDHAL6	NA	15870898	Standard	NM_033195	NM_033195	NA	Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.190G>T	15.37:g.59499329G>T	ENSP00000302393:p.Glu64*	NA	Q6DUY4|Q96LI2	37	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960368	0.53400	.	.	ENSG00000171989	ENST00000307144	.	.	.	1.47	1.47	0.22746	.	0.084010	0.46758	U	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000302393:E64X	E	+	1	0	LDHAL6B	57286621	1.000000	0.71417	0.011000	0.14972	0.016000	0.09150	2.591000	0.46163	0.784000	0.33661	0.305000	0.20034	GAG	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256015.1		+	ENST00000307144.4	Nonsense_Mutation	SNP	15 : 59499329 - 59499329 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	444	9
LPAR1	1902	broad.mit.edu	37	9	113703751	113703751	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:113703751C>A	ENST00000374431.3	-	4	1126	c.743G>T	c.(742-744)cGg>cTg	p.R248L	LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L|LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	248					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCCCGATTCCGCCGGGGTCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(115;661 2323 9836 34256)							NA				0													84	85	84			NA	NA	9		NA											NA				113703751		2203	4300	6503	SO:0001583	missense			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121	1902	1902		GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid	3166	protein-coding gene	gene with protein product		602282	endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2	EDG2	NA	8922387, 9070858	Standard	NM_057159	NM_001401	NA	Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.743G>T	9.37:g.113703751C>A	ENSP00000363553:p.Arg248Leu	NA	O00656|O00722|P78351	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229298	0.79688	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.86953	2.85	0.58432	D	0.999999	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.71414	0.973;0.924;0.973	T	0.73004	-0.4119	10	0.87932	D	0	.	17.708	0.88314	0.0:1.0:0.0:0.0	.	249;249;248	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	L	248;249;248;248;230;249	ENSP00000363553:R248L;ENSP00000445697:R249L;ENSP00000363552:R248L;ENSP00000351755:R248L;ENSP00000440201:R249L	ENSP00000351755:R248L	R	-	2	0	LPAR1	112743572	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	6.089000	0.71384	2.437000	0.82529	0.563000	0.77884	CGG	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053631.1		-	ENST00000374431.3	Missense_Mutation	SNP	9 : 113703751 - 113703751 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	367	10
LRGUK	136332	broad.mit.edu	37	7	133827903	133827903	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:133827903C>A	ENST00000285928.2	+	4	645	c.576C>A	c.(574-576)ccC>ccA	p.P192P		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	192							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCAAGCCACCCAAAAACCTCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	126	129			NA	NA	7		NA											NA				133827903		2203	4299	6502	SO:0001819	synonymous_variant			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530	136332	136332			21964	protein-coding gene	gene with protein product					NA		Standard	NM_144648	NM_144648	NA	Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.576C>A	7.37:g.133827903C>A		NA	Q2M3I1	37	CCDS5830.1																																																																																			LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339442.1		+	ENST00000285928.2	Silent	SNP	7 : 133827903 - 133827903 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	559	8
LYSMD3	116068	broad.mit.edu	37	5	89815139	89815139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:89815139C>A	ENST00000500869.2	-	4	464				LYSMD3_ENST00000315948.6_Nonsense_Mutation_p.E140*|LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L			Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	NA					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TCCTGTTGTTCGGAAGAGTAT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	116	119			NA	NA	5		NA											NA				89815139		1856	4092	5948	SO:0001627	intron_variant			BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018	116068	116068			26969	protein-coding gene	gene with protein product					NA		Standard	XM_371760	NM_001286812	NA	Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000500869.2:c.256-313G>T	5.37:g.89815139C>A		NA	Q5H9U0|Q6PEK0|Q9NTE9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.119638|3.119638	0.56613|0.56613	.|.	.|.	ENSG00000176018;ENSG00000259141|ENSG00000176018	ENST00000315948;ENST00000554351|ENST00000509384	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.400265|.	0.29537|.	N|.	0.011876|.	.|T	.|0.75939	.|0.3918	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.54706	.|0.759	.|T	.|0.78585	.|-0.2147	.|7	0.14656|0.87932	T|D	0.56|0	-10.0408|-10.0408	19.8807|19.8807	0.96899|0.96899	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|120	.|Q7Z3D4-2	.|.	X|L	140|120	.|.	ENSP00000314518:E140X|ENSP00000427683:R120L	E|R	-|-	1|2	0|0	AC027323.1;LYSMD3|LYSMD3	89850895|89850895	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.226000|0.226000	0.24999|0.24999	6.891000|6.891000	0.75639|0.75639	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GAA|CGA	LYSMD3-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000369989.1		-	ENST00000500869.2	Intron	SNP	5 : 89815139 - 89815139 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	486	14
LYST	1130	broad.mit.edu	37	1	235866228	235866228	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:235866228C>A	ENST00000389794.3	-	45	10367	c.10193G>T	c.(10192-10194)cGa>cTa	p.R3398L	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3398L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTAGCGCTCGTCTCTGAAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	141	140			NA	NA	1		NA											NA				235866228		2203	4300	6503	SO:0001583	missense			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	1130	1130		WD repeat domain containing	1968	protein-coding gene	gene with protein product		606897	Chediak-Higashi syndrome 1	CHS1	NA	8717042, 8896560	Standard		NM_000081	NA	Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10193G>T	1.37:g.235866228C>A	ENSP00000374444:p.Arg3398Leu	NA	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384645	0.61845	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.80123	-1.34;-1.34	5.52	5.52	0.82312	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	N	0.21583	0.68	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.85655	0.1285	10	0.72032	D	0.01	.	19.4447	0.94841	0.0:1.0:0.0:0.0	.	3398	Q99698	LYST_HUMAN	L	3398	ENSP00000374444:R3398L;ENSP00000374443:R3398L	ENSP00000374443:R3398L	R	-	2	0	LYST	233932851	1.000000	0.71417	0.557000	0.28306	0.141000	0.21300	7.487000	0.81328	2.608000	0.88229	0.491000	0.48974	CGA	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097533.5		-	ENST00000389794.3	Missense_Mutation	SNP	1 : 235866228 - 235866228 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	688	11
MAP1LC3B2	643246	broad.mit.edu	37	12	117014104	117014104	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:117014104C>A	ENST00000556529.1	+	1	449	c.357C>A	c.(355-357)ttC>ttA	p.F119L	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.F119L			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	119					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						AGGAGACGTTCGGGATGAAAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	153	153			NA	NA	12		NA											NA				117014104		2203	4300	6503	SO:0001583	missense				CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471	643246	643246			34390	protein-coding gene	gene with protein product					NA		Standard	NM_001085481	NM_001085481	NA	Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.357C>A	12.37:g.117014104C>A	ENSP00000450524:p.Phe119Leu	NA		37	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	c	11.97	1.796431	0.31777	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.56275	0.47;0.47	2.39	-2.65	0.06095	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.74881	2.28	0.45648	D	0.998576	D	0.54772	0.968	P	0.60415	0.874	T	0.57112	-0.7867	10	0.87932	D	0	.	2.6389	0.04965	0.2028:0.2782:0.0:0.5189	.	119	A6NCE7	MP3B2_HUMAN	L	119	ENSP00000305059:F119L;ENSP00000450524:F119L	ENSP00000305059:F119L	F	+	3	2	MAP1LC3B2	115498487	0.991000	0.36638	0.134000	0.22075	0.174000	0.22865	0.044000	0.13992	-0.663000	0.05331	-0.587000	0.04127	TTC	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413900.1		+	ENST00000556529.1	Missense_Mutation	SNP	12 : 117014104 - 117014104 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	595	8
MAP2K4	6416	broad.mit.edu	37	17	12013744	12013744	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:12013744G>T	ENST00000581941.1	+	5	660		c.e5+1		MAP2K4_ENST00000353533.5_Splice_Site|MAP2K4_ENST00000415385.3_Splice_Site			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	NA					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATTCACAGAGGTGGGTATGGA	0.308		NA	D, Mis, N		pancreatic, breast, colorectal									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											89	90	89			NA	NA	17		NA											NA				12013744		2203	4299	6502	SO:0001630	splice_region_variant			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	6416	6416	2.7.12.2	Mitogen-activated protein kinase cascade / Kinase kinases	6844	protein-coding gene	gene with protein product		601335		SERK1	NA	7716521	Standard		NM_003010	NA	Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000581941.1:c.660+1G>T	17.37:g.12013744G>T		NA	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	37		.	.	.	.	.	.	.	.	.	.	G	23.0	4.366763	0.82463	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1455	0.89653	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K4	11954469	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.110000	0.94302	2.639000	0.89480	0.557000	0.71058	.	MAP2K4-003	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000441229.1	Intron	+	ENST00000581941.1	Splice_Site	SNP	17 : 12013744 - 12013744 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	560	54
MARCH7	64844	broad.mit.edu	37	2	160605292	160605292	+	Silent	SNP	C	C	A	rs149881046	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:160605292C>A	ENST00000409591.1	+	4	1456	c.1377C>A	c.(1375-1377)acC>acA	p.T459T	MARCH7_ENST00000259050.4_Silent_p.T497T|MARCH7_ENST00000539065.1_Silent_p.T441T|MARCH7_ENST00000409175.1_Silent_p.T497T			Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	497							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTAATTTGACCGACAATGTCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	193	187			NA	NA	2		NA											NA				160605292		2203	4300	6503	SO:0001819	synonymous_variant			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536	64844	64844		MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers	17393	protein-coding gene	gene with protein product		613334	axotrophin, membrane-associated ring finger (C3HC4) 7	AXOT	NA	14722266	Standard	NM_022826	XM_005246773	NA	Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000409591.1:c.1377C>A	2.37:g.160605292C>A		NA	A8K9X1|D3DPB0|Q53GQ1|Q9BTR9	37																																																																																				MARCH7-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000333702.1		+	ENST00000409591.1	Silent	SNP	2 : 160605292 - 160605292 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1096	12
MEF2C	4208	broad.mit.edu	37	5	88119587	88119587	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:88119587G>T	ENST00000340208.5	-	3	424	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000437473.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000504921.2_Missense_Mutation_p.Q7K	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	7	Lys-rich (basic).|MADS-box.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q7E(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTCGTAATCTGAATCTTTTTT	0.343		NA								HNSCC(66;0.2)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(3)											304	304	304			NA	NA	5		NA											NA				88119587		1825	4071	5896	SO:0001583	missense			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189	4208	4208		Myocyte enhancer factors	6996	protein-coding gene	gene with protein product		600662			NA	8455629	Standard	NM_002397	NM_002397	NA	Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000340208.5:c.19C>A	5.37:g.88119587G>T	ENSP00000340874:p.Gln7Lys	NA		37	CCDS54878.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262694	0.80358	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075;ENST00000509373	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.27	5.12	5.12	0.69794	Transcription factor, MADS-box (5);	0.051449	0.85682	D	0.000000	D	0.82291	0.5005	N	0.11892	0.195	0.80722	D	1	B;D;P;D	0.89917	0.166;1.0;0.909;0.999	B;D;D;D	0.83275	0.149;0.996;0.91;0.993	D	0.86237	0.1641	10	0.87932	D	0	-0.0224	18.9236	0.92536	0.0:0.0:1.0:0.0	.	7;7;7;7	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	K	7	ENSP00000340874:Q7K;ENSP00000389610:Q7K;ENSP00000421925:Q7K;ENSP00000426665:Q7K;ENSP00000396219:Q7K;ENSP00000422390:Q7K;ENSP00000425636:Q7K;ENSP00000423597:Q7K;ENSP00000424606:Q7K;ENSP00000441153:Q7K;ENSP00000423826:Q7K;ENSP00000423656:Q7K;ENSP00000424331:Q7K;ENSP00000427163:Q7K;ENSP00000426442:Q7K;ENSP00000427286:Q7K;ENSP00000426465:Q7K;ENSP00000427309:Q7K	ENSP00000340874:Q7K	Q	-	1	0	MEF2C	88155343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	2.543000	0.85770	0.591000	0.81541	CAG	MEF2C-005	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369819.1		-	ENST00000340208.5	Missense_Mutation	SNP	5 : 88119587 - 88119587 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1138	22
MFN1	55669	broad.mit.edu	37	3	179083014	179083014	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:179083014G>A	ENST00000471841.1	+	7	879		c.e7+1		MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	NA					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATGGAAGACGTAAGTTGTTA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	40	40			NA	NA	3		NA											NA				179083014		2201	4300	6501	SO:0001630	splice_region_variant			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109	55669	55669			18262	protein-coding gene	gene with protein product		608506			NA	8358434, 11181170	Standard	NM_017927	NM_033540	NA	Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.753+1G>A	3.37:g.179083014G>A		NA	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372164	0.82573	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFN1	180565708	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.414000	0.97362	2.649000	0.89929	0.563000	0.77884	.	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348654.2	Intron	+	ENST00000471841.1	Splice_Site	SNP	3 : 179083014 - 179083014 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	265	34
MLLT4	4301	broad.mit.edu	37	6	168265341	168265341	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:168265341C>A	ENST00000400822.3	+	2	216	c.216C>A	c.(214-216)atC>atA	p.I72I	MLLT4_ENST00000344191.4_Silent_p.I72I|MLLT4_ENST00000351017.4_Silent_p.I72I|MLLT4_ENST00000392112.1_Silent_p.I72I|MLLT4_ENST00000366806.2_Silent_p.I72I|MLLT4_ENST00000392108.3_Silent_p.I72I|MLLT4_ENST00000447894.2_Silent_p.I72I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	72	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGATGTAATCGAAACGCTCG	0.438		NA	T	MLL	AL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6q27	4301	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)		L	0													190	203	199			NA	NA	6		NA											NA				168265341		2203	4296	6499	SO:0001819	synonymous_variant			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396	4301	4301			7137	protein-coding gene	gene with protein product		159559	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4		NA	8242616	Standard	NM_005936	NM_001040000	NA	Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000400822.3:c.216C>A	6.37:g.168265341C>A		NA	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	37																																																																																				MLLT4-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043150.2		+	ENST00000400822.3	Silent	SNP	6 : 168265341 - 168265341 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	950	9
MMGT1	93380	broad.mit.edu	37	X	135049610	135049610	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:135049610C>A	ENST00000305963.2	-	3	562	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	59						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TGAACTATACCGTAACAGGTA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	124	126			NA	NA	X		NA											NA				135049610		2203	4300	6503	SO:0001583	missense			AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446	93380	93380			28100	protein-coding gene	gene with protein product	ER membrane protein complex subunit 5		transmembrane protein 32	TMEM32	NA	18057121, 22119785	Standard	NM_173470	NM_173470	NA	Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.175G>T	X.37:g.135049610C>A	ENSP00000306220:p.Gly59Cys	NA	B2R625|B4DIY3|D3DWG7|Q5JPP7	37	CCDS14653.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545456	0.86022	.	.	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86167	0.1597	9	0.87932	D	0	.	16.9176	0.86155	0.0:1.0:0.0:0.0	.	124;59	Q8N4V1-2;Q8N4V1	.;MMGT1_HUMAN	C	59;124	.	ENSP00000306220:G59C	G	-	1	0	MMGT1	134877276	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.289000	0.77006	0.600000	0.82982	GGT	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058453.3		-	ENST00000305963.2	Missense_Mutation	SNP	X : 135049610 - 135049610 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	880	13
MORC2	22880	broad.mit.edu	37	22	31328956	31328956	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:31328956G>A	ENST00000397641.3	-	22	2850	c.2442C>T	c.(2440-2442)gcC>gcT	p.A814A	MORC2_ENST00000215862.4_Silent_p.A752A			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	NA							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCACCTCCACGGCTGTGACAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													285	256	266			NA	NA	22		NA											NA				31328956		2203	4300	6503	SO:0001819	synonymous_variant			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422	22880	22880			23573	protein-coding gene	gene with protein product			zinc finger, CW-type with coiled-coil domain 1, zinc finger, CW type with coiled-coil domain 1	ZCWCC1	NA	14607086	Standard	NM_014941	XM_005261391	NA	Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2442C>T	22.37:g.31328956G>A		NA	B2RNB1|Q9UF28|Q9Y6V2	37																																																																																				MORC2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000321710.2		-	ENST00000397641.3	Silent	SNP	22 : 31328956 - 31328956 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1034	194
MPHOSPH10	10199	broad.mit.edu	37	2	71368410	71368410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:71368410G>T	ENST00000244230.2	+	7	1709	c.1357G>T	c.(1357-1359)Gaa>Taa	p.E453*		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	453					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGATGCATATGAATATAAAAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	180	175			NA	NA	2		NA											NA				71368410		2203	4300	6503	SO:0001587	stop_gained			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383	10199	10199			7213	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 106	605503			NA	8885239, 9450966	Standard	NM_005791	NM_005791	NA	Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1357G>T	2.37:g.71368410G>T	ENSP00000244230:p.Glu453*	NA	A0AVJ8	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	42	9.318101	0.99135	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	.	.	.	5.52	5.52	0.82312	.	0.151884	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	17.3088	0.87202	0.0:0.0:1.0:0.0	.	.	.	.	X	453;313	.	ENSP00000244230:E453X	E	+	1	0	MPHOSPH10	71221918	1.000000	0.71417	0.944000	0.38274	0.985000	0.73830	5.629000	0.67798	2.769000	0.95229	0.491000	0.48974	GAA	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251924.2		+	ENST00000244230.2	Nonsense_Mutation	SNP	2 : 71368410 - 71368410 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	883	11
MRPL35	51318	broad.mit.edu	37	2	86433238	86433238	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:86433238G>T	ENST00000337109.4	+	2	87	c.53G>T	c.(52-54)cGg>cTg	p.R18L	MRPL35_ENST00000409180.1_Missense_Mutation_p.R18L|MRPL35_ENST00000605125.1_Missense_Mutation_p.R18L|MRPL35_ENST00000254644.8_Missense_Mutation_p.R18L	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	18					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGAATCCTACGGCCCCTGAAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	135	136			NA	NA	2		NA											NA				86433238		2203	4300	6503	SO:0001583	missense			AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313	51318	51318		Mitochondrial ribosomal proteins / large subunits	14489	protein-coding gene	gene with protein product		611841			NA	11042152, 11551941	Standard	NM_016622	NM_016622	NA	Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.53G>T	2.37:g.86433238G>T	ENSP00000338389:p.Arg18Leu	NA	A6NKV6|B2RB93|Q658U7|Q8WWA2	37	CCDS1988.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297990	0.81025	.	.	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.17054	2.31;2.57;2.3	5.62	5.62	0.85841	.	0.049873	0.85682	D	0.000000	T	0.42966	0.1226	M	0.75264	2.295	0.43168	D	0.994969	D	0.76494	0.999	D	0.79784	0.993	T	0.25328	-1.0135	10	0.66056	D	0.02	-10.9098	15.5672	0.76303	0.0:0.0:1.0:0.0	.	18	Q9NZE8	RM35_HUMAN	L	18	ENSP00000254644:R18L;ENSP00000338389:R18L;ENSP00000386255:R18L	ENSP00000254644:R18L	R	+	2	0	MRPL35	86286749	0.967000	0.33354	0.992000	0.48379	0.914000	0.54420	3.300000	0.51834	2.820000	0.97059	0.650000	0.86243	CGG	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091002.2		+	ENST00000337109.4	Missense_Mutation	SNP	2 : 86433238 - 86433238 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	701	8
MRPS36	92259	broad.mit.edu	37	5	68524181	68524181	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68524181A>T	ENST00000256441.4	+	3	331	c.261A>T	c.(259-261)aaA>aaT	p.K87N	MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	87					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACAGAAGGAAACTTGTGTCTC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	172	168			NA	NA	5		NA											NA				68524181		2203	4300	6503	SO:0001583	missense				CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056	92259	92259		Mitochondrial ribosomal proteins / small subunits	16631	protein-coding gene	gene with protein product		611996			NA	11279123	Standard	NM_033281	NM_033281	NA	Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.261A>T	5.37:g.68524181A>T	ENSP00000256441:p.Lys87Asn	NA	Q9H2H4	37	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910653	0.52439	.	.	ENSG00000134056	ENST00000256441;ENST00000512880	.	.	.	5.76	4.59	0.56863	.	0.054165	0.64402	D	0.000001	T	0.64994	0.2649	L	0.39898	1.24	0.44136	D	0.99692	D	0.76494	0.999	D	0.83275	0.996	T	0.65755	-0.6091	9	0.72032	D	0.01	-20.7389	8.3323	0.32193	0.8452:0.0:0.1548:0.0	.	87	P82909	RT36_HUMAN	N	87;22	.	ENSP00000256441:K87N	K	+	3	2	MRPS36	68559937	0.989000	0.36119	0.991000	0.47740	0.993000	0.82548	2.537000	0.45702	1.005000	0.39183	0.377000	0.23210	AAA	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368940.1		+	ENST00000256441.4	Missense_Mutation	SNP	5 : 68524181 - 68524181 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	677	74
MRPS7	51081	broad.mit.edu	37	17	73259586	73259586	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:73259586C>A	ENST00000579761.1	+	4	732	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	MRPS7_ENST00000579002.1_Missense_Mutation_p.Q198K|MRPS7_ENST00000245539.6_Missense_Mutation_p.Q169K			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	169					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCGTTTCTACCAGGTGAATGA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	197	199			NA	NA	17		NA											NA				73259586		2203	4300	6503	SO:0001583	missense			AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445	51081	51081		Mitochondrial ribosomal proteins / small subunits	14499	protein-coding gene	gene with protein product		611974			NA		Standard	NM_015971	NM_015971	NA	Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000579761.1:c.505C>A	17.37:g.73259586C>A	ENSP00000463263:p.Gln169Lys	NA	B2R9N5|Q53GD6	37		.	.	.	.	.	.	.	.	.	.	C	12.96	2.095441	0.36952	.	.	ENSG00000125445	ENST00000245539	T	0.55052	0.54	5.13	5.13	0.70059	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85168	0.0996	10	0.87932	D	0	-38.3607	18.9531	0.92647	0.0:1.0:0.0:0.0	.	169	Q9Y2R9	RT07_HUMAN	K	169	ENSP00000245539:Q169K	ENSP00000245539:Q169K	Q	+	1	0	MRPS7	70771181	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	7.776000	0.85560	2.532000	0.85374	0.563000	0.77884	CAG	MRPS7-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000446665.2		+	ENST00000579761.1	Missense_Mutation	SNP	17 : 73259586 - 73259586 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	910	10
MTUS1	57509	broad.mit.edu	37	8	17570754	17570754	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17570754C>A	ENST00000262102.6	-	6	2816	c.2592G>T	c.(2590-2592)tcG>tcT	p.S864S	MTUS1_ENST00000381869.3_Silent_p.S810S|MTUS1_ENST00000381861.3_Silent_p.S111S|MTUS1_ENST00000519263.1_Silent_p.S810S|MTUS1_ENST00000544260.1_Silent_p.S9S	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	864						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AATTTTTTCTCGAAGGACCTA	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	94	94			NA	NA	8		NA											NA				17570754		1813	4068	5881	SO:0001819	synonymous_variant			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422	57509	57509			29789	protein-coding gene	gene with protein product	AT2 receptor-interacting protein, AT2R binding protein, mitochondrial tumor suppressor gene 1	609589	mitochondrial tumor suppressor 1		NA	10574462, 12692079	Standard	XM_372031	NM_001001931	NA	Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2592G>T	8.37:g.17570754C>A		NA	A8K135|B2RBJ6|B3KWJ9|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	37	CCDS43717.1																																																																																			MTUS1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375247.1		-	ENST00000262102.6	Silent	SNP	8 : 17570754 - 17570754 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	663	12
MVB12B	89853	broad.mit.edu	37	9	129154438	129154438	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:129154438G>A	ENST00000361171.3	+	5	584	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	MVB12B_ENST00000545391.1_Missense_Mutation_p.R168Q|MVB12B_ENST00000535766.1_Missense_Mutation_p.R161Q|MVB12B_ENST00000436593.3_Missense_Mutation_p.R153Q	NM_033446.2	NP_258257.1			multivesicular body subunit 12B	NA											NA						ATCATGGGCCGGACCAAGCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	113	111			NA	NA	9		NA											NA				129154438		2203	4300	6503	SO:0001583	missense			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814	89853	89853			23368	protein-coding gene	gene with protein product			chromosome 9 open reading frame 28, family with sequence similarity 125, member B	C9orf28, FAM125B	NA	18005716, 20654576, 22232651	Standard	XM_088525	NM_033446	NA	Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.503G>A	9.37:g.129154438G>A	ENSP00000354772:p.Arg168Gln	NA		37	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	36	5.876815	0.97055	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.9	5.9	0.94986	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.996	D;P;D;P	0.87578	0.998;0.773;0.998;0.825	T	0.77194	-0.2677	10	0.66056	D	0.02	-3.0422	19.2671	0.93993	0.0:0.0:1.0:0.0	.	161;153;37;168	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	Q	168;168;153;153;161	ENSP00000354772:R168Q;ENSP00000441988:R168Q;ENSP00000384751:R153Q;ENSP00000401379:R153Q;ENSP00000442846:R161Q	ENSP00000354772:R168Q	R	+	2	0	FAM125B	128194259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.859000	0.75467	2.788000	0.95919	0.650000	0.86243	CGG	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054110.1		+	ENST00000361171.3	Missense_Mutation	SNP	9 : 129154438 - 129154438 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	576	6
NAALAD2	10003	broad.mit.edu	37	11	89914807	89914807	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:89914807G>T	ENST00000534061.1	+	17	2108	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	NAALAD2_ENST00000321955.4_Silent_p.V593V|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	626					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCTGCTGTGAAAAACTTCT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	37	36			NA	NA	11		NA											NA				89914807		2196	4290	6486	SO:0001819	synonymous_variant			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	10003	10003	3.4.17.21		14526	protein-coding gene	gene with protein product	glutamate carboxypeptidase III	611636			NA	10085079	Standard	NM_005467	NM_005467	NA	Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1878G>T	11.37:g.89914807G>T		NA	B3KQR4|Q4VAM9	37	CCDS8288.1																																																																																			NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389424.2		+	ENST00000534061.1	Silent	SNP	11 : 89914807 - 89914807 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	589	10
NBPF1	55672	broad.mit.edu	37	1	16902777	16902777	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:16902777G>T	ENST00000430580.2	-	19	2991	c.2104C>A	c.(2104-2106)Caa>Aaa	p.Q702K	NBPF1_ENST00000432949.1_Missense_Mutation_p.Q160K|NBPF1_ENST00000287968.8_Missense_Mutation_p.Q67K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	702						cytoplasm					NA				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGAGCTTTTGGACAAGGTGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	139	133			NA	NA	1		NA											NA				16902777		1509	2700	4209	SO:0001583	missense			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481	55672	55672		neuroblastoma breakpoint family	26088	protein-coding gene	gene with protein product		610501			NA	11214970, 16079250	Standard	NM_017940	NM_017940	NA	Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2104C>A	1.37:g.16902777G>T	ENSP00000474456:p.Gln702Lys	NA	Q8N4E8|Q9C0H0	37																																																																																				NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000106436.3		-	ENST00000430580.2	Missense_Mutation	SNP	1 : 16902777 - 16902777 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	2025	19
NBR1	4077	broad.mit.edu	37	17	41341806	41341806	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:41341806C>A	ENST00000589872.1	+	8	751	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S|NBR1_ENST00000422280.1_Missense_Mutation_p.R228S|NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S			Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	228					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGTTGGTGTCCGCTACCAGTG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	138	141			NA	NA	17		NA											NA				41341806		1919	4137	6056	SO:0001583	missense			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554	4077	4077			6746	protein-coding gene	gene with protein product		166945	membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)	M17S2	NA	8069304	Standard	NM_005899	XM_006721903	NA	Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000589872.1:c.682C>A	17.37:g.41341806C>A	ENSP00000467816:p.Arg228Ser	NA	Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	37		.	.	.	.	.	.	.	.	.	.	C	19.06	3.752959	0.69648	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.96	5.96	0.96718	Zinc finger, ZZ-type (4);	0.054076	0.85682	D	0.000000	D	0.98893	0.9625	H	0.95850	3.73	0.50632	D	0.999887	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.967;1.0	D	0.98914	1.0781	10	0.62326	D	0.03	-12.2893	20.422	0.99049	0.0:1.0:0.0:0.0	.	207;228;228	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	S	228;207;228;228;228	ENSP00000411250:R228S;ENSP00000437545:R207S;ENSP00000343479:R228S;ENSP00000373963:R228S	ENSP00000343479:R228S	R	+	1	0	NBR1	38595332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.607000	0.61133	2.832000	0.97577	0.655000	0.94253	CGC	NBR1-004	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000453463.1		+	ENST00000589872.1	Missense_Mutation	SNP	17 : 41341806 - 41341806 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	606	9
NEB	4703	broad.mit.edu	37	2	152420173	152420173	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152420173C>A	ENST00000604864.1	-	117	18639	c.18640G>T	c.(18640-18642)Ggt>Tgt	p.G6214C	NEB_ENST00000427231.2_Missense_Mutation_p.G6214C|NEB_ENST00000409198.1_Missense_Mutation_p.G4513C|NEB_ENST00000603639.1_Missense_Mutation_p.G6214C|NEB_ENST00000397345.3_Missense_Mutation_p.G6214C|NEB_ENST00000172853.10_Missense_Mutation_p.G4513C			P20929	NEBU_HUMAN	nebulin	6196					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGAATTCACCGATCACTTTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													332	311	317			NA	NA	2		NA											NA				152420173		1920	4137	6057	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000604864.1:c.18640G>T	2.37:g.152420173C>A	ENSP00000474498:p.Gly6214Cys	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54408.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232555	0.58777	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06687	3.3;3.28;3.29;3.27;3.3	5.54	-1.62	0.08372	.	0.415688	0.27258	N	0.020192	T	0.13030	0.0316	L	0.60067	1.865	0.09310	N	1	P;P	0.50066	0.92;0.931	P;P	0.52909	0.713;0.696	T	0.06588	-1.0818	10	0.62326	D	0.03	.	7.5055	0.27542	0.0:0.2894:0.1079:0.6027	.	4513;944	P20929;Q14215	NEBU_HUMAN;.	C	4513;6214;6214;562;944;4513	ENSP00000386259:G4513C;ENSP00000380505:G6214C;ENSP00000416578:G6214C;ENSP00000410961:G944C;ENSP00000172853:G4513C	ENSP00000172853:G4513C	G	-	1	0	NEB	152128419	0.952000	0.32445	0.428000	0.26697	0.966000	0.64601	1.256000	0.32921	-0.425000	0.07371	-0.262000	0.10625	GGT	NEB-018	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469063.1		-	ENST00000604864.1	Missense_Mutation	SNP	2 : 152420173 - 152420173 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1023	11
NEB	4703	broad.mit.edu	37	2	152484296	152484296	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152484296C>A	ENST00000604864.1	-	67	9883	c.9884G>T	c.(9883-9885)cGg>cTg	p.R3295L	NEB_ENST00000427231.2_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L|NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000397345.3_Missense_Mutation_p.R3295L|NEB_ENST00000172853.10_Missense_Mutation_p.R3052L			P20929	NEBU_HUMAN	nebulin	3295					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAATGTTCCGGGCTCCAAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													243	228	233			NA	NA	2		NA											NA				152484296		1901	4118	6019	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000604864.1:c.9884G>T	2.37:g.152484296C>A	ENSP00000474498:p.Arg3295Leu	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54408.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461325	0.84317	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09538	2.97;3.02;2.99;2.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.38175	1.15	0.80722	D	1	P	0.45672	0.864	P	0.45037	0.467	T	0.00632	-1.1635	10	0.49607	T	0.09	.	19.5601	0.95368	0.0:1.0:0.0:0.0	.	3052	P20929	NEBU_HUMAN	L	3052;3295;3295;3052	ENSP00000386259:R3052L;ENSP00000380505:R3295L;ENSP00000416578:R3295L;ENSP00000172853:R3052L	ENSP00000172853:R3052L	R	-	2	0	NEB	152192542	0.989000	0.36119	0.899000	0.35326	0.954000	0.61252	3.126000	0.50477	2.620000	0.88729	0.650000	0.86243	CGG	NEB-018	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469063.1		-	ENST00000604864.1	Missense_Mutation	SNP	2 : 152484296 - 152484296 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1158	10
NHS	4810	broad.mit.edu	37	X	17745520	17745520	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:17745520G>T	ENST00000380060.3	+	6	3569	c.3231G>T	c.(3229-3231)ttG>ttT	p.L1077F	NHS_ENST00000398097.3_Missense_Mutation_p.L921F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1077						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATAATGTCTTGAACAAACCAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	177	182			NA	NA	X		NA											NA				17745520		2203	4300	6503	SO:0001583	missense				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158	4810	4810			7820	protein-coding gene	gene with protein product		300457			NA		Standard	NM_198270	NM_001136024	NA	Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3231G>T	X.37:g.17745520G>T	ENSP00000369400:p.Leu1077Phe	NA	Q5J7Q0|Q5J7Q1|Q68DR5	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755600	0.15846	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49432	0.78;0.79	5.88	3.1	0.35709	.	0.496191	0.22945	N	0.053721	T	0.58666	0.2138	M	0.62723	1.935	0.39613	D	0.969907	B;B;B;D	0.89917	0.082;0.082;0.082;1.0	B;B;B;D	0.91635	0.058;0.058;0.058;0.999	T	0.58289	-0.7662	10	0.52906	T	0.07	-8.328	4.1375	0.10178	0.1384:0.1238:0.6063:0.1315	.	1098;919;921;1077	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	F	1077;921;919	ENSP00000369400:L1077F;ENSP00000381170:L921F	ENSP00000369397:L919F	L	+	3	2	NHS	17655441	1.000000	0.71417	0.998000	0.56505	0.331000	0.28603	1.744000	0.38268	0.643000	0.30638	-1.070000	0.02257	TTG	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059120.1		+	ENST00000380060.3	Missense_Mutation	SNP	X : 17745520 - 17745520 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	631	11
NIF3L1	60491	broad.mit.edu	37	2	201760066	201760066	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201760066C>A	ENST00000409588.1	+	3	706	c.679C>A	c.(679-681)Cgg>Agg	p.R227R	NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000409357.1_Silent_p.R227R|NIF3L1_ENST00000409020.1_Silent_p.R227R	NM_001142356.1	NP_001135828.1	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	227					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TTTTCTTTCCCGGAACAAACA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	120	124			NA	NA	2		NA											NA				201760066		1828	4087	5915	SO:0001819	synonymous_variant			AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290	60491	60491			13390	protein-coding gene	gene with protein product		605778	NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1, NIF3 NGG1 interacting factor 3-like 1 (S. pombe)	ALS2CR1	NA	11124544, 11161814, 12522100	Standard	NM_021824	NM_001136039	NA	Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409588.1:c.679C>A	2.37:g.201760066C>A		NA	Q53TX4|Q9H2D2|Q9HC18	37	CCDS46486.1																																																																																			NIF3L1-005	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336202.1		+	ENST00000409588.1	Silent	SNP	2 : 201760066 - 201760066 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	540	10
NRXN1	9378	broad.mit.edu	37	2	50765565	50765565	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:50765565G>T	ENST00000404971.1	-	11	3428	c.2089C>A	c.(2089-2091)Cgg>Agg	p.R697R	NRXN1_ENST00000401669.2_Silent_p.R657R|NRXN1_ENST00000406316.2_Silent_p.R657R|NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000402717.3_Silent_p.R649R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	657	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCATTTGCCGGATATCTTTG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													262	273	269			NA	NA	2		NA											NA				50765565		2194	4294	6488	SO:0001819	synonymous_variant			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915	9378	9378			8008	protein-coding gene	gene with protein product		600565			NA		Standard		NM_001135659	NA	Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000404971.1:c.2089C>A	2.37:g.50765565G>T		NA	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	37	CCDS46282.1																																																																																			NRXN1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323894.3		-	ENST00000404971.1	Silent	SNP	2 : 50765565 - 50765565 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1285	12
NRXN3	9369	broad.mit.edu	37	14	79434626	79434626	+	Missense_Mutation	SNP	C	C	T	rs140301017		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:79434626C>T	ENST00000554719.1	+	11	2451	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTGAATGGACGCCTGCCAGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	0,4406		0,0,2203	136	116	122		1960	6	1	14	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	180	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	654/1062	79434626	1,13005	2203	4300	6503	SO:0001583	missense			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645	9369	9369			8010	protein-coding gene	gene with protein product		600567	chromosome 14 open reading frame 60	C14orf60	NA	11944992, 12379233	Standard	NM_001105250	NM_004796	NA	Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1960C>T	14.37:g.79434626C>T	ENSP00000451648:p.Arg654Cys	NA	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587372	0.96590	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76968	-1.06;-1.06	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.813	D;B	0.91635	0.999;0.076	D	0.87571	0.2478	8	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1027;654	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	1027;1016;654;654	ENSP00000451648:R654C;ENSP00000338349:R654C	.	R	+	1	0	NRXN3	78504379	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	CGC	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413787.1		+	ENST00000554719.1	Missense_Mutation	SNP	14 : 79434626 - 79434626 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	398	50
NSD1	64324	broad.mit.edu	37	5	176562201	176562201	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:176562201G>T	ENST00000511258.1	+	2	187	c.30G>T	c.(28-30)tcG>tcT	p.S10S	NSD1_ENST00000439151.2_Missense_Mutation_p.G33C|NSD1_ENST00000354179.4_Splice_Site_p.S10S|NSD1_ENST00000347982.4_Splice_Site_p.S10S|NSD1_ENST00000361032.4_Missense_Mutation_p.G33C			Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	279					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGCCCTTTCGGTAATGGTCA	0.448		NA	T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													134	123	127			NA	NA	5		NA											NA				176562201		2203	4300	6503	SO:0001630	splice_region_variant	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671	64324	64324		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	14234	protein-coding gene	gene with protein product		606681	Sotos syndrome	STO	NA	9628876, 11896389	Standard	NM_172349	NM_022455	NA	Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000511258.1:c.30+1G>T	5.37:g.176562201G>T		NA	Q96PD8|Q96RN7	37		.	.	.	.	.	.	.	.	.	.	G	15.03	2.712868	0.48517	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.98075	-4.08;-4.7	5.23	2.44	0.29823	.	0.132495	0.34802	N	0.003666	D	0.95452	0.8523	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.64776	0.929;0.85;0.84	D	0.93176	0.6570	10	0.41790	T	0.15	.	9.6226	0.39730	0.0744:0.2682:0.6574:0.0	.	33;33;33	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	C	33	ENSP00000395929:G33C;ENSP00000354310:G33C	ENSP00000354310:G33C	G	+	1	0	NSD1	176494807	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.600000	0.67599	0.339000	0.23719	0.555000	0.69702	GGT	NSD1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372609.1	Silent	+	ENST00000511258.1	Splice_Site	SNP	5 : 176562201 - 176562201 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	577	12
NUFIP2	57532	broad.mit.edu	37	17	27614185	27614185	+	Nonsense_Mutation	SNP	G	G	T	rs147846044		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:27614185G>T	ENST00000225388.4	-	2	885	c.827C>A	c.(826-828)tCg>tAg	p.S276*	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	276						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AATGGGCTTCGAACCATCTAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	127	127			NA	NA	17		NA											NA				27614185		2203	4300	6503	SO:0001587	stop_gained			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256	57532	57532			17634	protein-coding gene	gene with protein product		609356			NA	12837692, 16407062	Standard	NM_020772	NM_020772	NA	Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.827C>A	17.37:g.27614185G>T	ENSP00000225388:p.Ser276*	NA	Q9P2M5	37	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211356	0.79240	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	6.17	0.99709	.	0.275258	0.31784	N	0.007073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-16.4165	10.4929	0.44760	0.0688:0.1344:0.7967:0.0	.	.	.	.	X	276	.	ENSP00000225388:S276X	S	-	2	0	NUFIP2	24638311	1.000000	0.71417	0.985000	0.45067	0.948000	0.59901	3.846000	0.55888	2.941000	0.99782	0.655000	0.94253	TCG	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447015.2		-	ENST00000225388.4	Nonsense_Mutation	SNP	17 : 27614185 - 27614185 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	680	9
OBFC1	79991	broad.mit.edu	37	10	105664909	105664909	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:105664909C>A	ENST00000224950.3	-	4	402	c.235G>T	c.(235-237)Gac>Tac	p.D79Y	OBFC1_ENST00000369764.1_Missense_Mutation_p.D79Y|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	79					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CCAGTGCTGTCATCCACTGCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	141	138			NA	NA	10		NA											NA				105664909		2203	4300	6503	SO:0001583	missense			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960	79991	79991			26200	protein-coding gene	gene with protein product		613128			NA	12477932	Standard	NM_024928	NM_024928	NA	Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.235G>T	10.37:g.105664909C>A	ENSP00000224950:p.Asp79Tyr	NA	D3DR99|Q5TCZ0	37	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282127	0.59867	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.78816	-1.21;-1.21	5.43	4.5	0.54988	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.042369	0.85682	D	0.000000	D	0.87884	0.6290	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89490	0.3756	10	0.87932	D	0	-20.8298	14.0399	0.64669	0.0:0.8475:0.1525:0.0	.	79	Q9H668	STN1_HUMAN	Y	79	ENSP00000224950:D79Y;ENSP00000358779:D79Y	ENSP00000224950:D79Y	D	-	1	0	OBFC1	105654899	1.000000	0.71417	0.384000	0.26145	0.844000	0.47949	5.692000	0.68256	1.365000	0.46057	0.561000	0.74099	GAC	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050174.1		-	ENST00000224950.3	Missense_Mutation	SNP	10 : 105664909 - 105664909 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	568	10
OCA2	4948	broad.mit.edu	37	15	28263683	28263683	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28263683C>T	ENST00000353809.5	-	7	776	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	OCA2_ENST00000354638.3_Missense_Mutation_p.V223M|OCA2_ENST00000382996.2_Missense_Mutation_p.V223M			Q04671	P_HUMAN	oculocutaneous albinism II	223					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTGGAGTCCACGTGGCTGCTA	0.652		NA							Oculocutaneous Albinism					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	24	26			NA	NA	15		NA											NA				28263683		2203	4300	6503	SO:0001583	missense	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044	4948	4948			8101	protein-coding gene	gene with protein product	melanocyte-specific transporter protein	611409	oculocutaneous albinism II (pink-eye dilution (murine) homolog), eye color 3 (brown), eye color 2 (central brown), oculocutaneous albinism II (pink-eye dilution homolog, mouse)	D15S12, P, EYCL3, EYCL2	NA		Standard	NM_000275	NM_000275	NA	Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000353809.5:c.667G>A	15.37:g.28263683C>T	ENSP00000261276:p.Val223Met	NA	Q15211|Q15212|Q96EN1|Q9UMI5	37		.	.	.	.	.	.	.	.	.	.	C	4.620	0.115289	0.08831	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000431101	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.54	-10.1	0.00402	.	2.689910	0.01503	N	0.017593	T	0.31857	0.0810	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.005;0.007	B;B	0.15484	0.013;0.006	T	0.27054	-1.0085	10	0.33940	T	0.23	4.2318	0.9888	0.01452	0.1922:0.1624:0.2845:0.3609	.	223;223	Q04671-2;Q04671	.;P_HUMAN	M	223	ENSP00000346659:V223M;ENSP00000261276:V223M;ENSP00000372457:V223M;ENSP00000415431:V223M	ENSP00000261276:V223M	V	-	1	0	OCA2	25937278	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.018000	0.03626	-2.789000	0.00357	-0.794000	0.03295	GTG	OCA2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250824.1		-	ENST00000353809.5	Missense_Mutation	SNP	15 : 28263683 - 28263683 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	130	19
OCM2	4951	broad.mit.edu	37	7	97617777	97617777	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:97617777G>T	ENST00000257627.4	-	2	236	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1.						calcium ion binding			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	149	157			NA	NA	7		NA											NA				97617777		2203	4300	6503	SO:0001819	synonymous_variant			BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175	4951	4951		EF-hand domain containing	34396	protein-coding gene	gene with protein product					NA		Standard	NM_006188	NM_006188	NA	Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.145C>A	7.37:g.97617777G>T		NA	P32930|Q6ISI5|Q75MW0	37	CCDS5653.1																																																																																			OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334188.1		-	ENST00000257627.4	Silent	SNP	7 : 97617777 - 97617777 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	494	9
OR4K5	79317	broad.mit.edu	37	14	20389709	20389709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:20389709C>A	ENST00000315915.4	+	1	969	c.944C>A	c.(943-945)tCa>tAa	p.S315*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGAAATGTCACTAGTAGTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	89	85			NA	NA	14		NA											NA				20389709		2197	4299	6496	SO:0001587	stop_gained			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281	79317	79317		GPCR / Class A : Olfactory receptors	14745	protein-coding gene	gene with protein product					NA	14983052	Standard	NM_001005483	NM_001005483	NA	Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.944C>A	14.37:g.20389709C>A	ENSP00000319511:p.Ser315*	NA	Q6IFA7	37	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	8.174	0.792368	0.16258	.	.	ENSG00000176281	ENST00000315915	.	.	.	3.86	2.97	0.34412	.	0.722095	0.11958	N	0.513029	.	.	.	.	.	.	0.27428	N	0.954092	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	6.382	0.21540	0.0:0.773:0.0:0.227	.	.	.	.	X	315	.	ENSP00000319511:S315X	S	+	2	0	OR4K5	19459549	0.002000	0.14202	0.078000	0.20375	0.003000	0.03518	0.686000	0.25392	0.963000	0.38082	-0.143000	0.13931	TCA	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409867.1		+	ENST00000315915.4	Nonsense_Mutation	SNP	14 : 20389709 - 20389709 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1050	14
OR51A4	401666	broad.mit.edu	37	11	4967898	4967898	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:4967898G>T	ENST00000380373.2	-	1	458	c.433C>A	c.(433-435)Caa>Aaa	p.Q145K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCCTATTTGGGCAACTCTG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	220	218			NA	NA	11		NA											NA				4967898		2191	4269	6460	SO:0001583	missense			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497	401666	401666		GPCR / Class A : Olfactory receptors	14795	protein-coding gene	gene with protein product					NA		Standard	NM_001005329	NM_001005329	NA	Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.433C>A	11.37:g.4967898G>T	ENSP00000369731:p.Gln145Lys	NA		37	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	2.048	-0.418366	0.04766	.	.	ENSG00000205497	ENST00000380373	T	0.71341	-0.56	3.58	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39384	0.1076	N	0.02225	-0.63	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	9	0.02654	T	1	.	11.0806	0.48057	0.0:0.0:0.4766:0.5234	.	145	Q8NGJ6	O51A4_HUMAN	K	145	ENSP00000369731:Q145K	ENSP00000369731:Q145K	Q	-	1	0	OR51A4	4924474	0.000000	0.05858	0.013000	0.15412	0.779000	0.44077	-0.888000	0.04148	0.227000	0.20999	0.580000	0.79431	CAA	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142821.1		-	ENST00000380373.2	Missense_Mutation	SNP	11 : 4967898 - 4967898 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	2011	16
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56020051G>T	ENST00000303059.3	+	1	376	c.376G>T	c.(376-378)Gga>Tga	p.G126*		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	171	171			NA	NA	11		NA											NA				56020051		2201	4295	6496	SO:0001587	stop_gained			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489	390154	390154		GPCR / Class A : Olfactory receptors	15297	protein-coding gene	gene with protein product					NA		Standard	NM_001004747	NM_001004747	NA	Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.376G>T	11.37:g.56020051G>T	ENSP00000305403:p.Gly126*	NA	Q6IFC7	37	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	7.834	0.720470	0.15372	.	.	ENSG00000172489	ENST00000303059	.	.	.	4.55	2.59	0.31030	.	0.542212	0.15279	U	0.270784	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.1733	0.48584	0.0:0.1392:0.716:0.1448	.	.	.	.	X	126	.	ENSP00000305403:G126X	G	+	1	0	OR5T3	55776627	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.613000	0.24299	0.603000	0.29913	-0.189000	0.12847	GGA	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391599.1		+	ENST00000303059.3	Nonsense_Mutation	SNP	11 : 56020051 - 56020051 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	793	8
OR8H1	219469	broad.mit.edu	37	11	56058331	56058331	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56058331C>A	ENST00000313022.2	-	1	235	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TAACTGAGGTCAATAAATGAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													274	262	266			NA	NA	11		NA											NA				56058331		2201	4296	6497	SO:0001583	missense			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693	219469	219469		GPCR / Class A : Olfactory receptors	14824	protein-coding gene	gene with protein product					NA		Standard	NM_001005199	NM_001005199	NA	Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.208G>T	11.37:g.56058331C>A	ENSP00000323595:p.Asp70Tyr	NA	B2RNI7|Q6IFC5	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920585	0.33908	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.01185	5.21	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.11879	0.0289	H	0.96777	3.88	0.39098	D	0.961238	D	0.71674	0.998	D	0.66979	0.948	T	0.25606	-1.0127	10	0.87932	D	0	.	16.4739	0.84127	0.0:1.0:0.0:0.0	.	70	Q8NGG4	OR8H1_HUMAN	Y	70;66	ENSP00000323595:D70Y	ENSP00000323595:D70Y	D	-	1	0	OR8H1	55814907	0.997000	0.39634	0.932000	0.37286	0.004000	0.04260	4.149000	0.58091	2.147000	0.66899	0.544000	0.68410	GAC	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370019.1		-	ENST00000313022.2	Missense_Mutation	SNP	11 : 56058331 - 56058331 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1069	12
OR9A4	130075	broad.mit.edu	37	7	141618684	141618684	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141618684G>T	ENST00000548136.1	+	1	68	c.9G>T	c.(7-9)atG>atT	p.M3I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AAATGTTGATGAATTACTCTA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	180	180			NA	NA	7		NA											NA				141618684		2013	4190	6203	SO:0001583	missense				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083	130075	130075		GPCR / Class A : Olfactory receptors	15095	protein-coding gene	gene with protein product					NA		Standard	NM_001001656	NM_001001656	NA	Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.9G>T	7.37:g.141618684G>T	ENSP00000448789:p.Met3Ile	NA	B9EGV6|Q6IFI4	37	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	6.763	0.509673	0.12883	.	.	ENSG00000258083	ENST00000548136	T	0.17213	2.29	3.33	-1.9	0.07665	.	.	.	.	.	T	0.07413	0.0187	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	9	0.72032	D	0.01	0.4043	4.3789	0.11284	0.4061:0.3203:0.2735:0.0	.	3	Q8NGU2	OR9A4_HUMAN	I	3	ENSP00000448789:M3I	ENSP00000386148:M3I	M	+	3	0	OR9A4	141265153	0.000000	0.05858	0.002000	0.10522	0.749000	0.42624	-0.453000	0.06778	-0.460000	0.07003	0.637000	0.83480	ATG	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350806.3		+	ENST00000548136.1	Missense_Mutation	SNP	7 : 141618684 - 141618684 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	590	9
PCDH18	54510	broad.mit.edu	37	4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:138451498C>T	ENST00000507846.1	-	2	1638	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000344876.4_Missense_Mutation_p.R582H|PCDH18_ENST00000510305.1_Intron			Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	6e-04	SNP								NA				2	Substitution - Missense(2)	breast(1)|pancreas(1)						C	HIS/ARG	0,4406		0,0,2203	207	193	197		1745	4.1	0.1	4		197	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCDH18	NM_019035.3	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	582/1136	138451498	1,13005	2203	4300	6503	SO:0001583	missense			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184	54510	54510		Cadherins / Protocadherins : Non-clustered	14268	protein-coding gene	gene with protein product		608287			NA	10835267, 11549318	Standard	NM_019035	XM_005263070	NA	Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000507846.1:c.1085G>A	4.37:g.138451498C>T	ENSP00000425903:p.Arg362His	NA	A8K7K3|B7ZKT1|Q52LS2	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036444	0.07497	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55413	0.61;0.62;0.52	5.93	4.05	0.47172	Cadherin (2);Cadherin-like (1);	0.321942	0.22435	N	0.060092	T	0.29093	0.0723	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.04752	-1.0929	10	0.42905	T	0.14	.	7.9972	0.30275	0.0:0.5295:0.0:0.4705	.	362;582;582	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	H	582;582;362	ENSP00000355082:R582H;ENSP00000390688:R582H;ENSP00000425903:R362H	ENSP00000355082:R582H	R	-	2	0	PCDH18	138670948	1.000000	0.71417	0.067000	0.19924	0.245000	0.25701	1.744000	0.38268	0.679000	0.31345	0.563000	0.77884	CGT	PCDH18-003	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364616.1		-	ENST00000507846.1	Missense_Mutation	SNP	4 : 138451498 - 138451498 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	987	115
PCP4	5121	broad.mit.edu	37	21	41300976	41300976	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:41300976G>A	ENST00000328619.5	+	3	314	c.129G>A	c.(127-129)gcG>gcA	p.A43A	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	43	IQ.				central nervous system development	cytosol|nucleus		p.A43A(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AACGTGCAGCGGTGGCCATTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											102	94	97			NA	NA	21		NA											NA				41300976		2203	4300	6503	SO:0001819	synonymous_variant			X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036	5121	5121			8742	protein-coding gene	gene with protein product		601629			NA	8931698, 8914602	Standard	NM_006198	NM_006198	NA	Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.129G>A	21.37:g.41300976G>A		NA	A6NDJ9|Q93059	37	CCDS33563.1																																																																																			PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195025.1		+	ENST00000328619.5	Silent	SNP	21 : 41300976 - 41300976 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	394	32
PDSS1	23590	broad.mit.edu	37	10	26998640	26998640	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:26998640G>T	ENST00000376215.5	+	5	463	c.410G>T	c.(409-411)cGa>cTa	p.R137L	PDSS1_ENST00000376203.5_Missense_Mutation_p.R137L	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	137					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAAGCCTTTCGACCAATTATT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	146	146			NA	NA	10		NA											NA				26998640		2203	4300	6503	SO:0001583	missense			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459	23590	23590			17759	protein-coding gene	gene with protein product	coenzyme Q1 homolog (yeast)	607429	trans-prenyltransferase	TPRT	NA	10972372	Standard		NM_014317	NA	Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.410G>T	10.37:g.26998640G>T	ENSP00000365388:p.Arg137Leu	NA	Q53F75|Q6P473|Q86WQ8|Q9Y2W5	37	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249578	0.95305	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	D;D	0.89123	-2.47;-2.47	5.26	5.26	0.73747	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	H	0.99764	4.76	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.78314	0.991;0.957	D	0.99305	1.0902	10	0.87932	D	0	-16.9866	18.8227	0.92103	0.0:0.0:1.0:0.0	.	137;137	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	L	137;137;98	ENSP00000365388:R137L;ENSP00000365376:R137L	ENSP00000365376:R137L	R	+	2	0	PDSS1	27038646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.280000	0.95786	2.619000	0.88677	0.650000	0.86243	CGA	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047276.1		+	ENST00000376215.5	Missense_Mutation	SNP	10 : 26998640 - 26998640 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	667	11
PHF20L1	51105	broad.mit.edu	37	8	133790126	133790126	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:133790126C>A	ENST00000395386.2	+	2	351	c.52C>A	c.(52-54)Cgt>Agt	p.R18S	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	18	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATTGGTGCTCGTTTGGAGGC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	124	123			NA	NA	8		NA											NA				133790126		2203	4300	6503	SO:0001583	missense			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292	51105	51105		Tudor domain containing, Zinc fingers, PHD-type	24280	protein-coding gene	gene with protein product	tudor domain containing 20B				NA	10810093, 24492612	Standard	NM_016018	NM_016018	NA	Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.52C>A	8.37:g.133790126C>A	ENSP00000378784:p.Arg18Ser	NA	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586264	0.86851	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390	T;T;T;T;T;T;T;T	0.49139	0.8;0.82;0.85;1.36;0.79;0.85;0.81;1.41	5.71	5.71	0.89125	Tudor-like, plant (1);Tudor domain (1);	0.156524	0.64402	D	0.000013	T	0.56775	0.2008	L	0.33624	1.015	0.80722	D	1	D;P;D;D;D	0.63046	0.988;0.755;0.992;0.99;0.987	P;B;P;P;P	0.60682	0.878;0.291;0.855;0.729;0.526	T	0.54456	-0.8291	10	0.46703	T	0.11	-8.4742	18.4154	0.90568	0.0:1.0:0.0:0.0	.	18;18;18;18;18	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	S	18	ENSP00000378781:R18S;ENSP00000378777:R18S;ENSP00000355301:R18S;ENSP00000378784:R18S;ENSP00000324519:R18S;ENSP00000338269:R18S;ENSP00000378775:R18S;ENSP00000378788:R18S	ENSP00000324519:R18S	R	+	1	0	PHF20L1	133859308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.940000	0.56599	2.685000	0.91497	0.585000	0.79938	CGT	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000308949.3		+	ENST00000395386.2	Missense_Mutation	SNP	8 : 133790126 - 133790126 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	529	8
PHKA2	5256	broad.mit.edu	37	X	18911697	18911697	+	Missense_Mutation	SNP	G	G	T	rs137852288		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18911697G>T	ENST00000379942.4	-	33	4279	c.3614C>A	c.(3613-3615)cCg>cAg	p.P1205Q	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1205			P -> L (in GSD9A; type 1).		glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCCCCACTCGGAGCGCTGTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM950938	PHKA2	M	rs137852288						193	187	189			NA	NA	X		NA											NA				18911697		2203	4300	6503	SO:0001583	missense				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	5256	5256	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK	NA	2387090	Standard	NM_000292	NM_000292	NA	Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3614C>A	X.37:g.18911697G>T	ENSP00000369274:p.Pro1205Gln	NA	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490124	0.64074	.	.	ENSG00000044446	ENST00000379942	D	0.94537	-3.45	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98505	1.0616	10	0.87932	D	0	-19.5219	19.2244	0.93812	0.0:0.0:1.0:0.0	.	1205	P46019	KPB2_HUMAN	Q	1205	ENSP00000369274:P1205Q	ENSP00000369274:P1205Q	P	-	2	0	PHKA2	18821618	1.000000	0.71417	0.326000	0.25389	0.046000	0.14306	9.361000	0.97122	2.492000	0.84095	0.600000	0.82982	CCG	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055960.1		-	ENST00000379942.4	Missense_Mutation	SNP	X : 18911697 - 18911697 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	919	11
PIP	5304	broad.mit.edu	37	7	142836647	142836647	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142836647G>T	ENST00000291009.3	+	4	393	c.353G>T	c.(352-354)cGg>cTg	p.R118L		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	118						extracellular region	actin binding	p.R118L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											165	157	159			NA	NA	7		NA											NA				142836647		2203	4299	6502	SO:0001583	missense				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763	5304	5304			8993	protein-coding gene	gene with protein product	prolactin-inducible protein	176720			NA	2727805, 1955075	Standard	NM_002652	NM_002652	NA	Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.353G>T	7.37:g.142836647G>T	ENSP00000291009:p.Arg118Leu	NA	A0A963|A0A9C3|A0A9F3|A4D2I1	37	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	g	15.45	2.837901	0.50951	.	.	ENSG00000159763	ENST00000291009	T	0.14516	2.5	4.78	-4.48	0.03515	.	1.221410	0.05988	N	0.645521	T	0.13286	0.0322	M	0.65975	2.015	0.09310	N	1	B	0.22983	0.078	B	0.20577	0.03	T	0.34925	-0.9809	10	0.51188	T	0.08	.	3.3187	0.07043	0.5027:0.1128:0.2699:0.1146	.	118	P12273	PIP_HUMAN	L	118	ENSP00000291009:R118L	ENSP00000291009:R118L	R	+	2	0	PIP	142546769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.459000	0.01000	-1.283000	0.02393	-1.746000	0.00682	CGG	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327089.1		+	ENST00000291009.3	Missense_Mutation	SNP	7 : 142836647 - 142836647 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	689	11
PLA1A	51365	broad.mit.edu	37	3	119325737	119325737	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119325737G>T	ENST00000488919.1	+	2	112				PLA1A_ENST00000495992.1_Missense_Mutation_p.G64W|PLA1A_ENST00000273371.4_Missense_Mutation_p.G64W|PLA1A_ENST00000494440.1_Missense_Mutation_p.G48W	NM_001206961.1	NP_001193890.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	NA					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTAGCTGTGGGCAGCTAGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	159	157			NA	NA	3		NA											NA				119325737		2203	4300	6503	SO:0001627	intron_variant			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837	51365	51365			17661	protein-coding gene	gene with protein product		607460			NA	10196188	Standard		NM_015900	NA	Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000488919.1:c.-244-1880G>T	3.37:g.119325737G>T		NA	B2R8V2|O95991|Q86WX6|Q9UPD2	37	CCDS56269.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151990	0.57151	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91631	-2.68;-2.88;-2.68	5.04	5.04	0.67666	Lipase, N-terminal (1);	0.150264	0.64402	D	0.000014	D	0.96506	0.8860	M	0.89534	3.04	0.48632	D	0.999682	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95733	0.8776	10	0.38643	T	0.18	-19.1743	15.7681	0.78143	0.0:0.0:1.0:0.0	.	64;64	Q53H76-3;Q53H76	.;PLA1A_HUMAN	W	64;64;48	ENSP00000273371:G64W;ENSP00000417326:G64W;ENSP00000418793:G48W	ENSP00000273371:G64W	G	+	1	0	PLA1A	120808427	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.717000	0.68446	2.791000	0.96007	0.655000	0.94253	GGG	PLA1A-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355253.2		+	ENST00000488919.1	Intron	SNP	3 : 119325737 - 119325737 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	634	9
POFUT2	23275	broad.mit.edu	37	21	46687600	46687600	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:46687600G>T	ENST00000331343.7	-	8	1067	c.1041C>A	c.(1039-1041)ccC>ccA	p.P347P	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Silent_p.P347P	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	347					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCACCATCTCGGGTAACAGCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	171	172			NA	NA	21		NA											NA				46687600		2203	4300	6503	SO:0001819	synonymous_variant			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	23275	23275	2.4.1.221	Fucosyltransferases	14683	protein-coding gene	gene with protein product	peptide-O-fucosyltransferase, GDP-fucose protein O-fucosyltransferase 2	610249	chromosome 21 open reading frame 80	C21orf80	NA		Standard	NM_015227	NM_133635	NA	Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000331343.7:c.1041C>A	21.37:g.46687600G>T		NA	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	37	CCDS13721.1																																																																																			POFUT2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192571.3		-	ENST00000331343.7	Silent	SNP	21 : 46687600 - 46687600 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	781	12
POGLUT1	56983	broad.mit.edu	37	3	119190184	119190184	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119190184C>A	ENST00000295588.4	+	3	289	c.205C>A	c.(205-207)Cga>Aga	p.R69R		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	69						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AACTCCTTTCCGAGGAGGCAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													248	244	245			NA	NA	3		NA											NA				119190184		2203	4300	6503	SO:0001819	synonymous_variant			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389	56983	56983			22954	protein-coding gene	gene with protein product	KDELC family like 1	615618	chromosome 3 open reading frame 9, KTEL (Lys-Tyr-Glu-Leu) containing 1	C3orf9, KTELC1	NA	16524674	Standard	NM_152305	NM_152305	NA	Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.205C>A	3.37:g.119190184C>A		NA	B2RD13|Q53GJ4|Q8N2T1	37	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092898	0.20471	.	.	ENSG00000163389	ENST00000476573	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.69097	0.3073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68123	-0.5492	4	.	.	.	-6.1614	13.7387	0.62833	0.0:1.0:0.0:0.0	.	.	.	.	Q	55	.	.	P	+	2	0	POGLUT1	120672874	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.904000	0.48719	2.312000	0.78011	0.561000	0.74099	CCG	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355034.2		+	ENST00000295588.4	Silent	SNP	3 : 119190184 - 119190184 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	864	9
POLQ	10721	broad.mit.edu	37	3	121192257	121192257	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121192257G>T	ENST00000264233.5	-	21	6611	c.6483C>A	c.(6481-6483)acC>acA	p.T2161T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2161					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCCTCTTCTGGTAGAACCCA	0.443		NA						DNA polymerases (catalytic subunits)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(152;907 1925 26081 31236 36904)							NA				0													221	212	215			NA	NA	3		NA											NA				121192257		2203	4300	6503	SO:0001819	synonymous_variant			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	10721	10721	2.7.7.7	DNA polymerases	9186	protein-coding gene	gene with protein product		604419			NA	10395804	Standard	NM_199420	NM_199420	NA	Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6483C>A	3.37:g.121192257G>T		NA	O95160|Q6VMB5	37	CCDS33833.1																																																																																			POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355097.1		-	ENST00000264233.5	Silent	SNP	3 : 121192257 - 121192257 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1037	11
PPIL4	85313	broad.mit.edu	37	6	149842225	149842225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:149842225G>T	ENST00000253329.2	-	10	985	c.953C>A	c.(952-954)tCg>tAg	p.S318*		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	318	RRM.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CTTTGCAACCGACTGGCTAAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	179	178			NA	NA	6		NA											NA				149842225		2202	4299	6501	SO:0001587	stop_gained				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013	85313	85313		RNA binding motif (RRM) containing	15702	protein-coding gene	gene with protein product		607609			NA		Standard		NM_139126	NA	Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.953C>A	6.37:g.149842225G>T	ENSP00000253329:p.Ser318*	NA	B2RD34|Q7Z3Q5	37	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	36	5.846120	0.97016	.	.	ENSG00000131013	ENST00000253329	.	.	.	5.52	5.52	0.82312	.	0.049439	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.442	0.94824	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000253329:S318X	S	-	2	0	PPIL4	149883918	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.314000	0.96306	2.597000	0.87782	0.555000	0.69702	TCG	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042642.1		-	ENST00000253329.2	Nonsense_Mutation	SNP	6 : 149842225 - 149842225 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	558	9
PPM1N	147699	broad.mit.edu	37	19	45997638	45997638	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:45997638G>A	ENST00000401705.1	+	1	203				RTN2_ENST00000245923.4_Silent_p.P200P|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.P200P			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	NA							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						TCAAGACCTCGGGCGATGAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	50	52			NA	NA	19		NA											NA				45997638		2203	4300	6503	SO:0001627	intron_variant			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889	147699	147699		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	26845	protein-coding gene	gene with protein product					NA		Standard	NM_001080401	NM_001080401	NA	Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000401705.1:c.-16+5401G>A	19.37:g.45997638G>A		NA	Q6P662	37																																																																																				PPM1N-008	KNOWN	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326520.1		+	ENST00000401705.1	Intron	SNP	19 : 45997638 - 45997638 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	213	31
PRDM2	7799	broad.mit.edu	37	1	14108532	14108532	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:14108532G>T	ENST00000235372.7	+	8	5098	c.4242G>T	c.(4240-4242)tcG>tcT	p.S1414S	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.S1213S|PRDM2_ENST00000311066.5_Silent_p.S1414S|PRDM2_ENST00000343137.4_Silent_p.S1213S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1414	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAATGTCGTCGAATAAGCTCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	75	73			NA	NA	1		NA											NA				14108532		2203	4300	6503	SO:0001819	synonymous_variant			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731	7799	7799		Chromatin-modifying enzymes / K-methyltransferases	9347	protein-coding gene	gene with protein product	retinoblastoma protein-binding zinc finger protein, retinoblastoma protein-interacting zinc finger protein, MTE-binding protein, zinc-finger DNA-binding protein, GATA-3 binding protein G3B	601196			NA	7538672	Standard	NM_012231	NM_012231	NA	Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4242G>T	1.37:g.14108532G>T		NA	Q13149|Q14550|Q5VUL9	37	CCDS150.1																																																																																			PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021792.2		+	ENST00000235372.7	Silent	SNP	1 : 14108532 - 14108532 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	412	9
PRKCA	5578	broad.mit.edu	37	17	64728884	64728884	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:64728884C>A	ENST00000413366.3	+	9	1023	c.997C>A	c.(997-999)Cga>Aga	p.R333R		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	333					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAACCTTGACCGAGTGAAACT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	140	140			NA	NA	17		NA											NA				64728884		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	5578	5578	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA	NA		Standard		NM_002737	NA	Approved		uc002jfp.1	P17252		ENST00000413366.3:c.997C>A	17.37:g.64728884C>A		NA	Q15137|Q32M72|Q96RE4	37	CCDS11664.1																																																																																			PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446976.1		+	ENST00000413366.3	Silent	SNP	17 : 64728884 - 64728884 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	719	10
PSG3	5671	broad.mit.edu	37	19	43237144	43237144	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:43237144T>G	ENST00000327495.5	-	3	685	c.501A>C	c.(499-501)ttA>ttC	p.L167F	PSG3_ENST00000595140.1_Missense_Mutation_p.L167F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	167	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GATCACAGGTTAAGCTCACAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	201	203			NA	NA	19		NA											NA				43237144		2203	4300	6503	SO:0001583	missense				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826	5671	5671		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9520	protein-coding gene	gene with protein product		176392			NA	2341148	Standard	NM_021016	NM_021016	NA	Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.501A>C	19.37:g.43237144T>G	ENSP00000332215:p.Leu167Phe	NA	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	9.036	0.988549	0.18966	.	.	ENSG00000221826	ENST00000327495	T	0.20332	2.08	1.59	0.52	0.17040	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33411	0.0862	M	0.64170	1.965	0.09310	N	1	D;B	0.64830	0.994;0.395	D;B	0.70227	0.968;0.316	T	0.14896	-1.0456	9	0.34782	T	0.22	.	2.9502	0.05859	0.0:0.277:0.0:0.723	.	145;167	Q08266;Q16557	.;PSG3_HUMAN	F	167	ENSP00000332215:L167F	ENSP00000332215:L167F	L	-	3	2	PSG3	47928984	0.000000	0.05858	0.014000	0.15608	0.015000	0.08874	-0.662000	0.05305	0.725000	0.32318	0.324000	0.21423	TTA	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321423.2		-	ENST00000327495.5	Missense_Mutation	SNP	19 : 43237144 - 43237144 G PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	895	29
PTPRA	5786	broad.mit.edu	37	20	3016525	3016525	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:3016525C>G	ENST00000216877.6	+	21	2509	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M|PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	712	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGATCAGCATCATCGCCGCCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	91	94			NA	NA	20		NA											NA				3016525		2203	4300	6503	SO:0001583	missense				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670	NA	5786		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA	NA	2172030, 2169617	Standard		NM_080840	NA	Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2109C>G	20.37:g.3016525C>G	ENSP00000216877:p.Ile703Met	NA	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091247	0.55968	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.57	4.63	0.57726	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.060068	0.64402	U	0.000008	T	0.13030	0.0316	N	0.13140	0.3	0.54753	D	0.999987	B;P;B	0.49559	0.024;0.925;0.13	B;P;B	0.53549	0.03;0.729;0.158	T	0.12319	-1.0552	10	0.42905	T	0.14	.	14.6291	0.68643	0.0:0.9297:0.0:0.0703	.	723;712;703	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	M	712;703;712;568;322;723;703;703	ENSP00000369756:I712M;ENSP00000216877:I703M;ENSP00000382787:I712M;ENSP00000351559:I568M;ENSP00000393553:I723M;ENSP00000314568:I703M;ENSP00000348468:I703M	ENSP00000216877:I703M	I	+	3	3	PTPRA	2964525	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.486000	0.45259	1.339000	0.45563	0.563000	0.77884	ATC	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077682.3		+	ENST00000216877.6	Missense_Mutation	SNP	20 : 3016525 - 3016525 G PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	416	75
PTPRN	5798	broad.mit.edu	37	2	220172205	220172205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220172205G>A	ENST00000295718.2	-	3	481	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*|PTPRN_ENST00000423636.2_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	81					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGTAAGCGTTGGAGAACTGGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	72			NA	NA	2		NA											NA				220172205		2203	4300	6503	SO:0001587	stop_gained				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356	5798	5798		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like	9676	protein-coding gene	gene with protein product		601773			NA	8024693	Standard		NM_001199763	NA	Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.241C>T	2.37:g.220172205G>A	ENSP00000295718:p.Gln81*	NA	Q08319|Q53QD6	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613044	0.87258	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579;ENST00000440552	.	.	.	5.09	5.09	0.68999	.	0.101357	0.38778	N	0.001570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.3985	0.74816	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;81;48	.	ENSP00000295718:Q81X	Q	-	1	0	PTPRN	219880449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.229000	0.72294	2.359000	0.80004	0.460000	0.39030	CAA	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256819.2		-	ENST00000295718.2	Nonsense_Mutation	SNP	2 : 220172205 - 220172205 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	310	39
RBM25	58517	broad.mit.edu	37	14	73578904	73578904	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:73578904C>A	ENST00000261973.7	+	17	2622	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.I779I	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	779	PWI.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAAGAAAATCATAGAATATA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	145	141			NA	NA	14		NA											NA				73578904		2203	4297	6500	SO:0001819	synonymous_variant			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707	58517	58517		RNA binding motif (RRM) containing	23244	protein-coding gene	gene with protein product	functional spliceosome-associated protein 94	612427	RNA-binding region (RNP1, RRM) containing 7	RNPC7	NA	9847074, 7596406	Standard	XM_027330	NM_021239	NA	Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2337C>A	14.37:g.73578904C>A		NA	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	37	CCDS32113.1																																																																																			RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394966.1		+	ENST00000261973.7	Silent	SNP	14 : 73578904 - 73578904 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	974	12
RNF213	57674	broad.mit.edu	37	17	78338344	78338344	+	Silent	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:78338344A>G	ENST00000508628.2	+	43	12154	c.12009A>G	c.(12007-12009)ttA>ttG	p.L4003L	RNF213_ENST00000582970.1_Silent_p.L3954L|RNF213_ENST00000336301.6_Silent_p.L2027L|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA			Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGTCTTCTTACTAGACAAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	66	67			NA	NA	17		NA											NA				78338344		2203	4300	6503	SO:0001819	synonymous_variant			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.12009A>G	17.37:g.78338344A>G		NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37																																																																																				RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Silent	SNP	17 : 78338344 - 78338344 G PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	249	20
RP11-144F15.1	0	broad.mit.edu	37	12	107103179	107103179	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:107103179C>A	ENST00000551505.1	-	1	229				RFX4_ENST00000357881.4_Missense_Mutation_p.P311Q|RFX4_ENST00000392842.1_Missense_Mutation_p.P302Q|RFX4_ENST00000229387.5_Missense_Mutation_p.P208Q						NA											NA						CACGACCTCCCAGAAAACTTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	78	81			NA	NA	12		NA											NA				107103179		2203	4300	6503	SO:0001627	intron_variant											NA	NA			NA							NA					NA						ENST00000551505.1:c.209+65288G>T	12.37:g.107103179C>A		NA		37		.	.	.	.	.	.	.	.	.	.	C	34	5.310682	0.95629	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.91464	-0.74;-0.74;-2.85;0.01	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.91635	0.999;0.996;0.996;0.987	D	0.95640	0.8697	10	0.87932	D	0	-10.1755	19.5955	0.95536	0.0:1.0:0.0:0.0	.	208;311;311;302	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	Q	302;311;311;247;208	ENSP00000376585:P302Q;ENSP00000350552:P311Q;ENSP00000448694:P247Q;ENSP00000229387:P208Q	ENSP00000229387:P208Q	P	+	2	0	RFX4	105627309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.626000	0.88956	0.650000	0.86243	CCA	RP11-144F15.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407171.1		-	ENST00000551505.1	Intron	SNP	12 : 107103179 - 107103179 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	333	7
RPS25	6230	broad.mit.edu	37	11	118888751	118888751	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118888751C>A	ENST00000527673.1	-	2	421	c.16G>T	c.(16-18)Gac>Tac	p.D6Y	RPS25_ENST00000528547.1_5'UTR	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	6					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTCTTCTTGTCGTCCTTAGGC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	114	113			NA	NA	11		NA											NA				118888751		2200	4295	6495	SO:0001583	missense			M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181	6230	6230		S ribosomal proteins	10413	protein-coding gene	gene with protein product		180465			NA	1748303	Standard	NM_001028	NM_001028	NA	Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.16G>T	11.37:g.118888751C>A	ENSP00000435096:p.Asp6Tyr	NA	B2R4M7|P25111	37	CCDS8406.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467841	0.43839	.	.	ENSG00000118181	ENST00000527673	.	.	.	5.5	5.5	0.81552	.	0.100672	0.64402	D	0.000002	T	0.73171	0.3553	M	0.85462	2.755	0.80722	D	1	B	0.31730	0.337	B	0.31495	0.131	T	0.75977	-0.3127	9	0.66056	D	0.02	-9.1481	19.3992	0.94621	0.0:1.0:0.0:0.0	.	6	P62851	RS25_HUMAN	Y	6	.	ENSP00000435096:D6Y	D	-	1	0	RPS25	118393961	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.484000	0.60271	2.593000	0.87608	0.655000	0.94253	GAC	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389324.1		-	ENST00000527673.1	Missense_Mutation	SNP	11 : 118888751 - 118888751 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	457	8
RSC1A1	6248	broad.mit.edu	37	1	15988098	15988098	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:15988098C>A	ENST00000345034.1	+	1	1735	c.1735C>A	c.(1735-1737)Cgc>Agc	p.R579S	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	579	UBA.				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATATTGACCGCATTCTCCG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	201	207			NA	NA	1		NA											NA				15988098		2203	4300	6503	SO:0001583	missense			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695	6248	6248			10458	protein-coding gene	gene with protein product		601966			NA		Standard	NM_006511	NM_006511	NA	Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1735C>A	1.37:g.15988098C>A	ENSP00000341963:p.Arg579Ser	NA	B2RBP5	37	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291445	0.59976	.	.	ENSG00000215695	ENST00000345034	T	0.56103	0.48	5.96	5.03	0.67393	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.000000	0.56097	D	0.000027	T	0.54062	0.1835	N	0.08118	0	0.37857	D	0.929571	D	0.89917	1.0	D	0.91635	0.999	T	0.67745	-0.5591	10	0.87932	D	0	-44.9555	14.8264	0.70117	0.1494:0.8506:0.0:0.0	.	579	Q92681	RSCA1_HUMAN	S	579	ENSP00000341963:R579S	ENSP00000341963:R579S	R	+	1	0	RSC1A1	15860685	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.805000	0.47939	1.466000	0.48025	0.655000	0.94253	CGC	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000145500.1		+	ENST00000345034.1	Missense_Mutation	SNP	1 : 15988098 - 15988098 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	700	11
RSL1D1	26156	broad.mit.edu	37	16	11933615	11933615	+	Silent	SNP	G	G	T	rs144452977	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:11933615G>T	ENST00000571133.1	-	8	1155	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S	RSL1D1_ENST00000542106.1_Silent_p.S141S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	361					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTCGTCTTCGGATTCATTTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													306	266	279			NA	NA	16		NA											NA				11933615		2197	4300	6497	SO:0001819	synonymous_variant			AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490	26156	26156			24534	protein-coding gene	gene with protein product		615874			NA	15334068, 9859858	Standard	NM_015659	NM_015659	NA	Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1083C>A	16.37:g.11933615G>T		NA	D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	37	CCDS10551.1																																																																																			RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252059.2		-	ENST00000571133.1	Silent	SNP	16 : 11933615 - 11933615 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	804	10
S100A7	6278	broad.mit.edu	37	1	153431438	153431438	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:153431438G>T	ENST00000368723.3	-	2	162	c.52C>A	c.(52-54)Cac>Aac	p.H18N	S100A7_ENST00000368722.1_Missense_Mutation_p.H18N	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	18	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTATTTGTGAAACATGTCG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													275	234	248			NA	NA	1		NA											NA				153431438		2203	4300	6503	SO:0001583	missense			BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556	6278	6278		S100 calcium binding proteins, EF-hand domain containing	10497	protein-coding gene	gene with protein product		600353	S100 calcium-binding protein A7 (psoriasin 1), S100 calcium binding protein A7 (psoriasin 1)	PSOR1	NA	1940442	Standard	NM_002963	NM_002963	NA	Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.52C>A	1.37:g.153431438G>T	ENSP00000357712:p.His18Asn	NA	Q5SY67|Q6FGE3|Q9H1E2	37	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	15.36	2.809499	0.50421	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.15256	2.44;2.44	2.1	1.13	0.20643	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.17109	0.0411	L	0.55990	1.75	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04855	-1.0922	9	0.72032	D	0.01	.	5.0686	0.14594	0.1839:0.0:0.8161:0.0	.	18	P31151	S10A7_HUMAN	N	18	ENSP00000357712:H18N;ENSP00000357711:H18N	ENSP00000357711:H18N	H	-	1	0	S100A7	151698062	0.007000	0.16637	0.003000	0.11579	0.749000	0.42624	0.739000	0.26173	0.441000	0.26529	0.194000	0.17425	CAC	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036789.1		-	ENST00000368723.3	Missense_Mutation	SNP	1 : 153431438 - 153431438 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	562	11
SAMHD1	25939	broad.mit.edu	37	20	35533826	35533826	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:35533826G>T	ENST00000262878.4	-	12	1550	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	451					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATAGATTACGGTATTCAATT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													191	183	185			NA	NA	20		NA											NA				35533826		2203	4300	6503	SO:0001583	missense			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347	25939	25939		Sterile alpha motif (SAM) domain containing	15925	protein-coding gene	gene with protein product	HD domain containing 1, monocyte protein 5, Aicardi-Goutieres syndrome 5	606754			NA	11064105, 11230166	Standard	NM_015474	NM_015474	NA	Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1351C>A	20.37:g.35533826G>T	ENSP00000262878:p.Arg451Ser	NA	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144911	0.77888	.	.	ENSG00000101347	ENST00000262878	D	0.96830	-4.14	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.99533	1.0961	10	0.87932	D	0	-9.9304	18.2234	0.89909	0.0:0.0:1.0:0.0	.	451	Q9Y3Z3	SAMH1_HUMAN	S	451	ENSP00000262878:R451S	ENSP00000262878:R451S	R	-	1	0	SAMHD1	34967240	1.000000	0.71417	0.300000	0.25030	0.629000	0.37895	7.652000	0.83633	2.644000	0.89710	0.462000	0.41574	CGT	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079062.2		-	ENST00000262878.4	Missense_Mutation	SNP	20 : 35533826 - 35533826 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	749	13
SCAND3	0	broad.mit.edu	37	6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN		373	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	117	116			NA	NA	6		NA											NA				28543364		2203	4300	6503	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000452236.2:c.1118C>A	6.37:g.28543364G>T	ENSP00000395259:p.Ser373*	NA	Q2NKL9|Q5SRJ3|Q8TCN2|Q96MV9|Q96PW3	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	41	8.759941	0.98943	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6309	0.45536	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000395259:S373X	S	-	2	0	SCAND3	28651343	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	2.230000	0.42999	1.935000	0.56089	0.655000	0.94253	TCA	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043551.3		-	ENST00000452236.2	Nonsense_Mutation	SNP	6 : 28543364 - 28543364 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	548	9
SDR42E1	93517	broad.mit.edu	37	16	82033377	82033377	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:82033377C>T	ENST00000328945.5	-	3	648	c.521G>A	c.(520-522)gGc>gAc	p.G174D	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	174					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACACCGTCGCCTCTGTCCAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	16		NA											NA				82033377		2045	4198	6243	SO:0001583	missense			AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	93517	93517	1.1.1.-	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	29834	protein-coding gene	gene with protein product					NA	19027726	Standard	NM_145168	NM_145168	NA	Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.521G>A	16.37:g.82033377C>T	ENSP00000332407:p.Gly174Asp	NA	B2RDS1|Q9P0D1	37	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876151	0.17395	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.86297	-2.1;-2.1	5.76	4.81	0.61882	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.402695	0.32459	N	0.006073	D	0.83695	0.5310	L	0.58510	1.815	0.09310	N	0.999999	B	0.12630	0.006	B	0.18263	0.021	T	0.73616	-0.3926	10	0.41790	T	0.15	-2.9917	10.2802	0.43534	0.0:0.8505:0.0:0.1495	.	174	Q8WUS8	D42E1_HUMAN	D	174;171	ENSP00000332407:G174D;ENSP00000434529:G171D	ENSP00000332407:G174D	G	-	2	0	SDR42E1	80590878	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	1.918000	0.40006	1.431000	0.47355	0.655000	0.94253	GGC	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388081.2		-	ENST00000328945.5	Missense_Mutation	SNP	16 : 82033377 - 82033377 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	583	33
SEC62	7095	broad.mit.edu	37	3	169700520	169700520	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:169700520C>A	ENST00000337002.4	+	4	335	c.277C>A	c.(277-279)Cga>Aga	p.R93R	SEC62_ENST00000480708.1_Silent_p.R93R|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	93					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTTTTTTCACCGAGCCCTAAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	80	76			NA	NA	3		NA											NA				169700520		2186	4297	6483	SO:0001819	synonymous_variant			D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952	7095	7095			11846	protein-coding gene	gene with protein product		602173	translocation protein 1	TLOC1	NA	9020021, 10799540	Standard		NM_003262	NA	Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.277C>A	3.37:g.169700520C>A		NA	D3DNQ0|O00682|O00729	37	CCDS3210.1																																																																																			SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352043.1		+	ENST00000337002.4	Silent	SNP	3 : 169700520 - 169700520 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	835	9
SH2D5	400745	broad.mit.edu	37	1	21050638	21050638	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21050638C>T	ENST00000375031.1	-	6	1109	c.485G>A	c.(484-486)cGc>cAc	p.R162H	SH2D5_ENST00000444387.2_Missense_Mutation_p.R246H|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	162								p.R162H(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCCCCCGAGCGGATCACCTT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											46	55	52			NA	NA	1		NA											NA				21050638		2093	4200	6293	SO:0001583	missense			AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410	400745	400745			28819	protein-coding gene	gene with protein product					NA		Standard	XM_375698	NM_001103161	NA	Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000375031.1:c.485G>A	1.37:g.21050638C>T	ENSP00000364171:p.Arg162His	NA	Q5SSJ2	37	CCDS41280.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627683	0.87560	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.93	4.01	0.46588	SH2 motif (3);	0.138797	0.49305	N	0.000156	T	0.56877	0.2015	L	0.56769	1.78	0.42777	D	0.993855	B	0.25667	0.131	B	0.18871	0.023	T	0.59984	-0.7351	9	0.66056	D	0.02	.	12.202	0.54331	0.0:0.9156:0.0:0.0844	.	246	Q6ZV89	SH2D5_HUMAN	H	162;246	.	ENSP00000364171:R162H	R	-	2	0	SH2D5	20923225	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.417000	0.59822	1.303000	0.44873	0.563000	0.77884	CGC	SH2D5-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007453.1		-	ENST00000375031.1	Missense_Mutation	SNP	1 : 21050638 - 21050638 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	275	39
SHROOM2	357	broad.mit.edu	37	X	9864330	9864330	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:9864330T>C	ENST00000380913.3	+	4	2472	c.2382T>C	c.(2380-2382)ttT>ttC	p.F794F		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	794					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGGCACGTTTGCTGACAGGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	X		NA											NA				9864330		2203	4300	6503	SO:0001819	synonymous_variant			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950	357	357			630	protein-coding gene	gene with protein product		300103	apical protein, Xenopus laevis-like, apical protein-like (Xenopus laevis)	APXL	NA	7795590, 16615870	Standard	NM_001649	NM_001649	NA	Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2382T>C	X.37:g.9864330T>C		NA	B9EIQ7	37	CCDS14135.1																																																																																			SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055721.1		+	ENST00000380913.3	Silent	SNP	X : 9864330 - 9864330 C PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	266	38
SKIV2L2	23517	broad.mit.edu	37	5	54645456	54645456	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:54645456C>A	ENST00000230640.5	+	12	1550	c.1296C>A	c.(1294-1296)tcC>tcA	p.S432S	SKIV2L2_ENST00000545714.1_Silent_p.S331S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	432	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATTGCTTATCCGATGAAGATA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(2;92 134 23744 29976 33782)							NA				0													71	77	75			NA	NA	5		NA											NA				54645456		2203	4300	6503	SO:0001819	synonymous_variant			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123	23517	23517			18734	protein-coding gene	gene with protein product	functional spliceosome-associated protein 118		KIAA0052	KIAA0052	NA		Standard		NM_015360	NA	Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1296C>A	5.37:g.54645456C>A		NA	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	37	CCDS3967.1																																																																																			SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214108.1		+	ENST00000230640.5	Silent	SNP	5 : 54645456 - 54645456 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	643	9
SLC19A3	80704	broad.mit.edu	37	2	228564041	228564041	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:228564041C>A	ENST00000258403.3	-	3	461	c.390G>T	c.(388-390)gtG>gtT	p.V130V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.V126V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	130					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGGGGCTGACCACGCTGTATA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	86	86	86		390	5.9	1	2		86	1,8599		0,1,4299	no	coding-synonymous	SLC19A3	NM_025243.3		0,1,6502	AA,AC,CC	NA	0.0116,0.0,0.0077		130/497	228564041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917	80704	80704		Solute carriers	16266	protein-coding gene	gene with protein product	thiamine transporter 2	606152	solute carrier family 19, member 3		NA	11136550, 15871139	Standard		XM_005246871	NA	Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.390G>T	2.37:g.228564041C>A		NA		37	CCDS2468.1																																																																																			SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256894.1		-	ENST00000258403.3	Silent	SNP	2 : 228564041 - 228564041 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	430	8
SLC25A12	8604	broad.mit.edu	37	2	172712428	172712428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:172712428C>A	ENST00000422440.2	-	4	278	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	SLC25A12_ENST00000392592.4_Intron|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	81					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAAACAGATTCAAATGCCAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	150	149			NA	NA	2		NA											NA				172712428		2203	4300	6503	SO:0001587	stop_gained			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840	8604	8604		Solute carriers, EF-hand domain containing	10982	protein-coding gene	gene with protein product		603667	solute carrier family 25 (mitochondrial carrier, Aralar), member 12		NA	9722566, 10702666, 11566871	Standard	NM_003705	NM_003705	NA	Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.241G>T	2.37:g.172712428C>A	ENSP00000388658:p.Glu81*	NA	Q96AM8	37	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791463	0.90367	.	.	ENSG00000115840	ENST00000422440	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.6969	19.6978	0.96034	0.0:1.0:0.0:0.0	.	.	.	.	X	81	.	ENSP00000388658:E81X	E	-	1	0	SLC25A12	172420674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.649000	0.89929	0.650000	0.86243	GAA	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259010.2		-	ENST00000422440.2	Nonsense_Mutation	SNP	2 : 172712428 - 172712428 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	837	11
SLC26A7	115111	broad.mit.edu	37	8	92364116	92364116	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:92364116G>C	ENST00000276609.3	+	10	1457		c.e10+1		SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site|SLC26A7_ENST00000520249.1_Splice_Site	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	NA						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCTGCCCATGGTACGGTAGTG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	172	178			NA	NA	8		NA											NA				92364116		2203	4300	6503	SO:0001630	splice_region_variant			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606	115111	115111		Solute carriers	14467	protein-coding gene	gene with protein product		608479	solute carrier family 26, member 7		NA	11834742, 11829495, 16524946	Standard		NM_134266	NA	Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1218+1G>C	8.37:g.92364116G>C		NA	Q24JS8|Q8TE53|Q96RN2	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245791	0.59103	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.089	0.93219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A7	92433292	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	6.331000	0.72929	2.610000	0.88304	0.591000	0.81541	.	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377011.1	Intron	+	ENST00000276609.3	Splice_Site	SNP	8 : 92364116 - 92364116 C PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	882	91
SLC35G3	146861	broad.mit.edu	37	17	33521042	33521042	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:33521042C>A	ENST00000297307.5	-	1	370	c.285G>T	c.(283-285)ctG>ctT	p.L95L		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	95	DUF6 1.					integral to membrane					NA						CAGGAGTTCCCAGAAGGGGGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	141	138			NA	NA	17		NA											NA				33521042		2203	4300	6503	SO:0001819	synonymous_variant			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729	146861	146861		Solute carriers	26848	protein-coding gene	gene with protein product			transmembrane protein 21A, acyl-malonyl condensing enzyme 1	TMEM21A, AMAC1	NA		Standard	NM_152462	NM_152462	NA	Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.285G>T	17.37:g.33521042C>A		NA	B9EGE9	37	CCDS11293.1																																																																																			SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256445.2		-	ENST00000297307.5	Silent	SNP	17 : 33521042 - 33521042 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	699	8
SLC38A1	81539	broad.mit.edu	37	12	46623409	46623409	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:46623409C>A	ENST00000552197.1	-	4	820	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	SLC38A1_ENST00000546893.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000398637.5_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D46Y	NM_001278390.1	NP_001265319.1	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	46					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CTTTCACGATCAGAAATAAAC	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	102	103			NA	NA	12		NA											NA				46623409		1819	4078	5897	SO:0001583	missense			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371	81539	81539		Solute carriers	13447	protein-coding gene	gene with protein product		608490			NA	10891391	Standard		NM_030674	NA	Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000552197.1:c.136G>T	12.37:g.46623409C>A	ENSP00000449756:p.Asp46Tyr	NA	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	37		.	.	.	.	.	.	.	.	.	.	C	18.38	3.612168	0.66672	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197;ENST00000550173	T;T;T;T;T	0.10382	3.06;3.06;3.06;3.06;2.88	5.32	4.38	0.52667	.	0.458361	0.22316	N	0.061669	T	0.09862	0.0242	N	0.08118	0	0.47153	D	0.999331	B;P;D	0.58970	0.099;0.552;0.984	B;B;P	0.49829	0.019;0.135;0.623	T	0.32268	-0.9913	10	0.45353	T	0.12	-21.6098	15.9161	0.79521	0.1352:0.8648:0.0:0.0	.	46;46;46	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	Y	46	ENSP00000449607:D46Y;ENSP00000398142:D46Y;ENSP00000381634:D46Y;ENSP00000447853:D46Y;ENSP00000449756:D46Y	ENSP00000381634:D46Y	D	-	1	0	SLC38A1	44909676	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.279000	0.43435	2.661000	0.90470	0.650000	0.86243	GAT	SLC38A1-001	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404220.1		-	ENST00000552197.1	Missense_Mutation	SNP	12 : 46623409 - 46623409 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	987	15
SLC4A7	9497	broad.mit.edu	37	3	27439802	27439802	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:27439802C>A	ENST00000295736.5	-	17	2513	c.2443G>T	c.(2443-2445)Ggt>Tgt	p.G815C	SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000425128.2_3'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	815						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CCATGATGACCACAAGCTGAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	120	119			NA	NA	3		NA											NA				27439802		2203	4300	6503	SO:0001583	missense			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867	9497	9497		Solute carriers	11033	protein-coding gene	gene with protein product		603353		SLC4A6	NA	10198178, 9610397	Standard	NM_003615	NM_003615	NA	Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2443G>T	3.37:g.27439802C>A	ENSP00000295736:p.Gly815Cys	NA	A6NIA8|O60350|Q6AHZ9|Q9HC88|Q9UIB9	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874189	0.72180	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.71	0.654	0.17833	Bicarbonate transporter, C-terminal (1);	0.319899	0.37483	N	0.002069	D	0.87406	0.6169	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.991;0.99;0.988;1.0;1.0;0.998	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.953;0.965;0.921;0.994;0.998;0.979	D	0.85536	0.1212	10	0.66056	D	0.02	.	9.6876	0.40109	0.0:0.6546:0.0:0.3454	.	811;696;807;811;824;365;691;815;696	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	366;815;691;824;811;696;807;696;811;700;365;711	ENSP00000411031:G366C;ENSP00000295736:G815C;ENSP00000416368:G691C;ENSP00000390394:G824C;ENSP00000414797:G811C;ENSP00000394252:G696C;ENSP00000406605:G807C;ENSP00000407382:G696C;ENSP00000406804:G811C;ENSP00000395336:G700C;ENSP00000373429:G365C;ENSP00000388703:G711C	ENSP00000295736:G815C	G	-	1	0	SLC4A7	27414806	0.989000	0.36119	0.287000	0.24848	0.950000	0.60333	0.479000	0.22228	-0.163000	0.10946	0.563000	0.77884	GGT	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341230.2		-	ENST00000295736.5	Missense_Mutation	SNP	3 : 27439802 - 27439802 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	494	8
SMAD4	4089	broad.mit.edu	37	18	48591908	48591916	+	In_Frame_Del	DEL	TGGAGGAGA	TGGAGGAGA	-	rs121912576		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	TGGAGGAGA	TGGAGGAGA	-	-	TGGAGGAGA	TGGAGGAGA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:48591908_48591916delTGGAGGAGA	ENST00000588745.1	+	5	783_791	c.783_791delTGGAGGAGA	c.(781-792)tctggaggagat>tct	p.GGD262del	SMAD4_ENST00000342988.3_In_Frame_Del_p.GGD358del|SMAD4_ENST00000398417.2_In_Frame_Del_p.GGD358del			Q13485	SMAD4_HUMAN	SMAD family member 4	358					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.G358*(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGACCCTTCTGGAGGAGATCGCTTTTGT	0.411		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				42	Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(2)	pancreas(29)|large_intestine(3)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.783_791delTGGAGGAGA	18.37:g.48591908_48591916delTGGAGGAGA	ENSP00000464901:p.Gly262_Asp264del	NA	A8K405	37	CCDS11950.1																																																																																			SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	In_Frame_Del	DEL	18 : 48591908 - 48591916 - PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	304	32
SNAPC3	6619	broad.mit.edu	37	9	15459726	15459726	+	Silent	SNP	G	G	T	rs113748924	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:15459726G>T	ENST00000380821.3	+	9	1274	c.1098G>T	c.(1096-1098)acG>acT	p.T366T		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	366					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GATGGGTGACGAACAATGACA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	129	131			NA	NA	9		NA											NA				15459726		2203	4300	6503	SO:0001819	synonymous_variant			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975	6619	6619			11136	protein-coding gene	gene with protein product		602348	small nuclear RNA activating complex, polypeptide 3, 50kD		NA	9003788	Standard	NM_001039697	XR_428427	NA	Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.1098G>T	9.37:g.15459726G>T		NA	D3DRI8|Q2VPI6|Q5T285	37	CCDS6478.1																																																																																			SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051763.2		+	ENST00000380821.3	Silent	SNP	9 : 15459726 - 15459726 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	504	8
SPANXN2	494119	broad.mit.edu	37	X	142803706	142803706	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:142803706G>T	ENST00000370498.1	-	1	810	c.57C>A	c.(55-57)tcC>tcA	p.S19S		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	19										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGTTATTGGATTCACAGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	224	229			NA	NA	X		NA											NA				142803706		2203	4300	6503	SO:0001819	synonymous_variant				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988	494119	494119			33175	protein-coding gene	gene with protein product	cancer/testis antigen family 11, member 7	300665			NA	14973187, 17012309	Standard	NM_001009615	NM_001009615	NA	Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.57C>A	X.37:g.142803706G>T		NA	Q0ZNM2	37	CCDS35419.1																																																																																			SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058621.2		-	ENST00000370498.1	Silent	SNP	X : 142803706 - 142803706 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	997	11
SPOCK3	50859	broad.mit.edu	37	4	167983676	167983676	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:167983676G>T	ENST00000357154.3	-	4	348	c.211C>A	c.(211-213)Cgc>Agc	p.R71S	SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R20S|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R68S|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R68S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	71					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTCCAAGTGCGGAAATAATCA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	4		NA											NA				167983676		2201	4296	6497	SO:0001583	missense			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104	50859	50859			13565	protein-coding gene	gene with protein product		607989			NA	11751414	Standard		NM_001204352	NA	Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.211C>A	4.37:g.167983676G>T	ENSP00000349677:p.Arg71Ser	NA	B2R7M7|B3KR67|O75705|Q6UW53|Q96Q26	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906066	0.72868	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000421836;ENST00000512648;ENST00000510403;ENST00000509854;ENST00000506697;ENST00000512042	T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	1.44;1.46;1.46;1.44;1.44;1.44;1.46;1.46;1.15;2.19;0.81;0.85;0.85	4.61	4.61	0.57282	.	0.144426	0.45606	D	0.000348	T	0.67401	0.2889	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.997;0.997;0.992;0.998;0.997	D;D;D;P;D;D	0.80764	0.978;0.987;0.987;0.89;0.994;0.987	T	0.67385	-0.5684	10	0.37606	T	0.19	5.3673	17.402	0.87463	0.0:0.0:1.0:0.0	.	20;80;68;71;68;71	B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;TICN3_HUMAN	S	71;68;68;71;71;71;68;68;20;68;68;68;71;71	ENSP00000349677:R71S;ENSP00000350153:R68S;ENSP00000425570:R68S;ENSP00000420920:R71S;ENSP00000423421:R71S;ENSP00000423606:R71S;ENSP00000426716:R68S;ENSP00000425502:R68S;ENSP00000411344:R20S;ENSP00000426177:R68S;ENSP00000423367:R68S;ENSP00000424168:R71S;ENSP00000425407:R71S	ENSP00000349677:R71S	R	-	1	0	SPOCK3	168220251	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.187000	0.72039	2.296000	0.77279	0.585000	0.79938	CGC	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364091.1		-	ENST00000357154.3	Missense_Mutation	SNP	4 : 167983676 - 167983676 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	671	9
SRBD1	55133	broad.mit.edu	37	2	45826684	45826684	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:45826684G>T	ENST00000263736.4	-	4	614	c.552C>A	c.(550-552)atC>atA	p.I184I		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	184					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTCAGTCTTGATTTTCTTTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													254	243	247			NA	NA	2		NA											NA				45826684		2203	4300	6503	SO:0001819	synonymous_variant			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784	55133	55133			25521	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018079	NM_018079	NA	Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.552C>A	2.37:g.45826684G>T		NA	Q53T56|Q96TA4|Q9NW11	37	CCDS1823.1																																																																																			SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250747.3		-	ENST00000263736.4	Silent	SNP	2 : 45826684 - 45826684 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	801	10
SRCIN1	80725	broad.mit.edu	37	17	36708223	36708223	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:36708223C>T	ENST00000264659.7	-	14	2850	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	748	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCAGCTGGCCCGCTCAGCTCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	43	41			NA	NA	17		NA											NA				36708223		1921	4117	6038	SO:0001583	missense				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363	80725	80725			29506	protein-coding gene	gene with protein product	p130Cas-associated protein, SNAP-25-interacting protein	610786			NA	11214970	Standard	NM_025248	NM_025248	NA	Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2626G>A	17.37:g.36708223C>T	ENSP00000264659:p.Gly876Arg	NA	Q75T46|Q8N4W8	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413836	0.62511	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.46451	0.87	4.69	4.69	0.59074	.	0.232419	0.43260	D	0.000583	T	0.52403	0.1732	L	0.43152	1.355	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.993;0.993;0.993	P;P;P;P	0.58266	0.836;0.677;0.677;0.677	T	0.52132	-0.8616	10	0.51188	T	0.08	-29.8471	16.9082	0.86133	0.0:1.0:0.0:0.0	.	182;748;748;876	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	R	876;657;730	ENSP00000264659:G876R	ENSP00000264659:G876R	G	-	1	0	SRCIN1	33961749	0.740000	0.28207	0.745000	0.31077	0.073000	0.16967	2.370000	0.44240	2.606000	0.88127	0.561000	0.74099	GGG	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441878.4		-	ENST00000264659.7	Missense_Mutation	SNP	17 : 36708223 - 36708223 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	313	37
SSTR5	6755	broad.mit.edu	37	16	1129733	1129733	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:1129733G>A	ENST00000293897.4	+	1	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	289					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CTACTTCTTCGTGGTCATCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	88	86			NA	NA	16		NA											NA				1129733		2194	4297	6491	SO:0001583	missense			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009	NA	6755		GPCR / Class A : Somatostatin receptors	11334	protein-coding gene	gene with protein product		182455			NA	7607700	Standard		NM_001053	NA	Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.865G>A	16.37:g.1129733G>A	ENSP00000293897:p.Val289Met	NA	P34988|Q9UJI5	37	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534704	0.45073	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.72505	-0.66;-0.66	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.381500	0.26654	N	0.023198	T	0.77974	0.4211	M	0.82323	2.585	0.42578	D	0.993203	D	0.53619	0.961	P	0.50162	0.633	T	0.81911	-0.0716	10	0.59425	D	0.04	.	12.2855	0.54789	0.0858:0.0:0.9142:0.0	.	289	P35346	SSR5_HUMAN	M	289	ENSP00000380680:V289M;ENSP00000293897:V289M	ENSP00000293897:V289M	V	+	1	0	SSTR5	1069734	1.000000	0.71417	0.922000	0.36590	0.009000	0.06853	4.534000	0.60622	2.202000	0.70862	0.561000	0.74099	GTG	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420836.1		+	ENST00000293897.4	Missense_Mutation	SNP	16 : 1129733 - 1129733 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	231	41
STARD3NL	83930	broad.mit.edu	37	7	38247300	38247300	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38247300C>A	ENST00000009041.7	+	2	452	c.195C>A	c.(193-195)ttC>ttA	p.F65L	STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	65	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACCTCTTATTCGTAACATTAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	130	135			NA	NA	7		NA											NA				38247300		2203	4300	6503	SO:0001583	missense			AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270	NA	83930			19169	protein-coding gene	gene with protein product		611759			NA	12393907	Standard		NM_032016	NA	Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.195C>A	7.37:g.38247300C>A	ENSP00000009041:p.Phe65Leu	NA		37	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253884	0.80135	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.17	5.02	0.67125	MENTAL domain (2);	0.042989	0.85682	D	0.000000	T	0.61148	0.2324	L	0.53617	1.68	0.50813	D	0.999893	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.904	T	0.57888	-0.7733	10	0.45353	T	0.12	-8.6394	9.8732	0.41187	0.0:0.1389:0.0:0.8611	.	65;65	C9JKL2;O95772	.;MENTO_HUMAN	L	65;58;65;65;65;65;65	ENSP00000009041:F65L;ENSP00000439436:F58L;ENSP00000394000:F65L;ENSP00000379334:F65L;ENSP00000411933:F65L;ENSP00000395455:F65L;ENSP00000402028:F65L	ENSP00000009041:F65L	F	+	3	2	STARD3NL	38213825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.598000	0.36740	0.576000	0.29452	-0.254000	0.11334	TTC	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226929.2		+	ENST00000009041.7	Missense_Mutation	SNP	7 : 38247300 - 38247300 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	331	8
STX2	2054	broad.mit.edu	37	12	131297517	131297517	+	Silent	SNP	G	G	T	rs146831527		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297517G>T	ENST00000261653.6	-	4	431	c.265C>A	c.(265-267)Cga>Aga	p.R89R	STX2_ENST00000392373.2_Silent_p.R89R	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	89				R -> A (in Ref. 1; BAA03436).	acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AACTTGGCTCGAATTTTATTC	0.249		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	96	94			NA	NA	12		NA											NA				131297517		2202	4296	6498	SO:0001819	synonymous_variant			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450	2054	2054			3403	protein-coding gene	gene with protein product		132350	epimorphin	STX2B, STX2C, STX2A, EPIM	NA	8938452, 15943887	Standard	NM_194356	NM_001980	NA	Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000261653.6:c.265C>A	12.37:g.131297517G>T		NA	Q86VW8	37	CCDS9269.1																																																																																			STX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399454.1		-	ENST00000261653.6	Silent	SNP	12 : 131297517 - 131297517 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	757	21
SUN1	23353	broad.mit.edu	37	7	888057	888057	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:888057G>T	ENST00000405266.1	+	6	682				SUN1_ENST00000456758.2_Missense_Mutation_p.G279C|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000401592.1_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	NA					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAATAGGCGGTGCGTCTTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													244	248	246			NA	NA	7		NA											NA				888057		876	1991	2867	SO:0001627	intron_variant			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828	23353	23353			18587	protein-coding gene	gene with protein product	Sad1 unc-84 domain protein 1	607723	unc-84 homolog A (C. elegans)	UNC84A	NA	11593002	Standard	NM_025154	NM_001130965	NA	Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.659-1503G>T	7.37:g.888057G>T		NA	B3KMV7|B7WNY4|B7WP53|Q96CZ7|Q9HA14|Q9UH98	37		.	.	.	.	.	.	.	.	.	.	G	18.66	3.672109	0.67928	.	.	ENSG00000164828	ENST00000456758;ENST00000429178	T;T	0.42513	0.97;0.97	5.56	4.67	0.58626	.	.	.	.	.	T	0.65943	0.2740	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70479	-0.4860	8	0.56958	D	0.05	.	16.0363	0.80631	0.0:0.1351:0.8649:0.0	.	221	O94901-3	.	C	279;52	ENSP00000388743:G279C;ENSP00000409909:G52C	ENSP00000409909:G52C	G	+	1	0	SUN1	854583	1.000000	0.71417	0.996000	0.52242	0.836000	0.47400	2.856000	0.48341	1.339000	0.45563	0.650000	0.86243	GGT	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322566.1		+	ENST00000405266.1	Intron	SNP	7 : 888057 - 888057 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	736	10
SUV420H1	51111	broad.mit.edu	37	11	67941364	67941364	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:67941364C>A	ENST00000402185.2	-	5	691	c.491G>T	c.(490-492)cGa>cTa	p.R164L	SUV420H1_ENST00000401547.2_Missense_Mutation_p.R187L|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000304363.4_Missense_Mutation_p.R187L			Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAAACATTCGCAAATAAAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	76			NA	NA	11		NA											NA				67941364		2199	4292	6491	SO:0001583	missense			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066	51111	51111		Chromatin-modifying enzymes / K-methyltransferases	24283	protein-coding gene	gene with protein product		610881			NA	10810093, 11401438	Standard	NM_017635	NM_016028	NA	Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000402185.2:c.491G>T	11.37:g.67941364C>A	ENSP00000384724:p.Arg164Leu	NA	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	37		.	.	.	.	.	.	.	.	.	.	C	29.7	5.030461	0.93575	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271;ENST00000453170	D;D;D;D;D;D;T	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;0.96	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	N	0.25789	0.76	0.80722	D	1	P;P;D;D	0.76494	0.938;0.67;0.996;0.999	B;P;D;D	0.85130	0.371;0.495;0.992;0.997	D	0.90878	0.4751	10	0.62326	D	0.03	-10.1498	19.0028	0.92841	0.0:1.0:0.0:0.0	.	164;187;187;187	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	L	187;187;187;187;164;15;116	ENSP00000305899:R187L;ENSP00000385965:R187L;ENSP00000385640:R187L;ENSP00000385005:R187L;ENSP00000384724:R164L;ENSP00000433589:R15L;ENSP00000406377:R116L	ENSP00000305899:R187L	R	-	2	0	SUV420H1	67697940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.752000	0.85141	2.669000	0.90835	0.591000	0.81541	CGA	SUV420H1-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000318323.2		-	ENST00000402185.2	Missense_Mutation	SNP	11 : 67941364 - 67941364 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	674	10
SVIL	6840	broad.mit.edu	37	10	29788191	29788191	+	Splice_Site	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:29788191C>A	ENST00000355867.4	-	18	4270	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	SVIL_ENST00000375398.2_Splice_Site_p.R1173L|SVIL_ENST00000535393.1_Splice_Site_p.R87L|SVIL_ENST00000375400.3_Splice_Site_p.R747L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1173					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCTGTGACCCGCTGTTCATA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	68	72			NA	NA	10		NA											NA				29788191		2203	4300	6503	SO:0001630	splice_region_variant			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321	6840	6840			11480	protein-coding gene	gene with protein product	archvillin	604126			NA	9382871	Standard		NM_003174	NA	Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3517-1G>T	10.37:g.29788191C>A		NA	D3DRW9|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156495	0.38119	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994	T;T;T;T	0.14266	2.63;2.66;2.66;2.52	4.13	2.28	0.28536	.	0.324362	0.34853	N	0.003624	T	0.17195	0.0413	M	0.68952	2.095	0.80722	D	1	B;P;B	0.41159	0.403;0.74;0.38	B;B;B	0.41374	0.119;0.355;0.274	T	0.02042	-1.1224	10	0.59425	D	0.04	-10.9371	10.3423	0.43887	0.0:0.8378:0.0:0.1622	.	87;747;1173	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	L	747;1173;1173;87;127	ENSP00000364549:R747L;ENSP00000364547:R1173L;ENSP00000348128:R1173L;ENSP00000445472:R87L	ENSP00000348128:R1173L	R	-	2	0	SVIL	29828197	0.999000	0.42202	0.998000	0.56505	0.608000	0.37181	2.104000	0.41815	0.417000	0.25871	-1.100000	0.02121	CGG	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047395.1	Missense_Mutation	-	ENST00000355867.4	Splice_Site	SNP	10 : 29788191 - 29788191 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	453	8
SYNM	23336	broad.mit.edu	37	15	99669709	99669709	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:99669709C>A	ENST00000560674.1	+	4	755	c.286C>A	c.(286-288)Cgt>Agt	p.R96S	SYNM_ENST00000336292.6_Missense_Mutation_p.R381S|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.R381S|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	382	Coil 1B.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCAGGGCACCGTGGATCTCA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(125;1071 1762 21750 40003 40381)							NA				0													175	178	177			NA	NA	15		NA											NA				99669709		1942	4137	6079	SO:0001583	missense			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253	23336	23336		A-kinase anchor proteins, Intermediate filaments type IV	24466	protein-coding gene	gene with protein product	synemin alpha, synemin beta	606087	desmuslin	DMN	NA	11737198, 11454237	Standard	NM_145728	NM_145728	NA	Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.286C>A	15.37:g.99669709C>A	ENSP00000453040:p.Arg96Ser	NA	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	37		.	.	.	.	.	.	.	.	.	.	C	7.619	0.676397	0.14841	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.82255	-1.56;-1.59	4.65	-1.51	0.08664	.	.	.	.	.	T	0.66436	0.2789	.	.	.	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.002	T	0.48714	-0.9011	8	0.22109	T	0.4	.	5.6352	0.17532	0.0:0.276:0.168:0.556	.	382;381	O15061;C9JIE4	SYNEM_HUMAN;.	S	381	ENSP00000336775:R381S;ENSP00000330469:R381S	ENSP00000330469:R381S	R	+	1	0	SYNM	97487232	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.153000	0.10144	-0.145000	0.11294	0.585000	0.79938	CGT	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415698.2		+	ENST00000560674.1	Missense_Mutation	SNP	15 : 99669709 - 99669709 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	915	8
SYT16	83851	broad.mit.edu	37	14	62551020	62551020	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:62551020C>A	ENST00000430451.2	+	5	1738	c.1541C>A	c.(1540-1542)tCg>tAg	p.S514*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	514	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGGGGCTCTCGTACAATGCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	14		NA											NA				62551020		2008	4156	6164	SO:0001587	stop_gained			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973	83851	83851		Synaptotagmins	23142	protein-coding gene	gene with protein product	synaptotagmin XIV-related,  chr14 synaptotagmin	610950	synaptotagmin XIV-like	SYT14L	NA	11543631	Standard	NM_031914	NM_031914	NA	Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1541C>A	14.37:g.62551020C>A	ENSP00000394700:p.Ser514*	NA	B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	39	7.684779	0.98431	.	.	ENSG00000139973	ENST00000430451	.	.	.	5.44	3.54	0.40534	.	0.187548	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2436	10.2901	0.43590	0.0:0.7905:0.1341:0.0754	.	.	.	.	X	514	.	ENSP00000394700:S514X	S	+	2	0	SYT16	61620773	0.912000	0.30974	0.917000	0.36280	0.990000	0.78478	1.901000	0.39838	0.779000	0.33543	0.643000	0.83706	TCG	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411700.1		+	ENST00000430451.2	Nonsense_Mutation	SNP	14 : 62551020 - 62551020 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	446	8
TBC1D8B	54885	broad.mit.edu	37	X	106092492	106092492	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:106092492C>T	ENST00000310452.2	+	12	2020	c.1855C>T	c.(1855-1857)Cca>Tca	p.P619S	TBC1D8B_ENST00000276175.3_Intron|TBC1D8B_ENST00000357242.5_Intron	NM_198881.1	NP_942582.1	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	0	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGATTTTATGCCACTAGTAAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	54			NA	NA	X		NA											NA				106092492		2203	4300	6503	SO:0001583	missense			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138	54885	54885		EF-hand domain containing	24715	protein-coding gene	gene with protein product					NA	8889548	Standard	NM_017752	NM_017752	NA	Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000310452.2:c.1855C>T	X.37:g.106092492C>T	ENSP00000310675:p.Pro619Ser	NA	Q5JRB7|Q6ZVX5|Q9NXE3	37	CCDS14523.1	.	.	.	.	.	.	.	.	.	.	-	2.460	-0.324381	0.05350	.	.	ENSG00000133138	ENST00000310452	T	0.12774	2.65	.	.	.	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	0.999999	P	0.52842	0.956	P	0.60541	0.876	T	0.10245	-1.0638	6	0.37606	T	0.19	.	.	.	.	.	619	B9A6K6	.	S	619	ENSP00000310675:P619S	ENSP00000310675:P619S	P	+	1	0	TBC1D8B	105979148	0.138000	0.22547	0.098000	0.21074	0.067000	0.16453	0.331000	0.19733	0.378000	0.24764	0.379000	0.24179	CCA	TBC1D8B-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057810.2		+	ENST00000310452.2	Missense_Mutation	SNP	X : 106092492 - 106092492 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	330	5
TEKT4	150483	broad.mit.edu	37	2	95541370	95541370	+	Missense_Mutation	SNP	C	C	T	rs112344899	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:95541370C>T	ENST00000295201.4	+	5	1111	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	325					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACAACGTGGCGGCACTGAAG	0.607		NA												2	9e-04	NA	NA	2184	0.0017	0.999	,	,	NA	8e-04	0.0013	NA	NA	0.0014	0.7509	LOWCOV,EXOME	NA	NA	0.0031	SNP								NA				0													194	161	172			NA	NA	2		NA											NA				95541370		2203	4300	6503	SO:0001583	missense			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060	150483	150483			31012	protein-coding gene	gene with protein product					NA		Standard	NM_144705	XM_005263876	NA	Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.974C>T	2.37:g.95541370C>T	ENSP00000295201:p.Ala325Val	NA		37	CCDS2005.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	.	2.496	-0.316380	0.05422	.	.	ENSG00000163060	ENST00000295201	T	0.02579	4.24	2.47	0.0321	0.14174	.	0.390516	0.24975	N	0.034109	T	0.01800	0.0057	N	0.26162	0.8	0.09310	N	1	B	0.30439	0.279	B	0.20577	0.03	T	0.47761	-0.9092	10	0.33940	T	0.23	-16.8492	5.7335	0.18053	0.2129:0.5766:0.2105:0.0	.	325	Q8WW24	TEKT4_HUMAN	V	325	ENSP00000295201:A325V	ENSP00000295201:A325V	A	+	2	0	TEKT4	94905097	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.696000	0.05104	0.323000	0.23307	0.465000	0.42564	GCG	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252777.1		+	ENST00000295201.4	Missense_Mutation	SNP	2 : 95541370 - 95541370 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	345	34
THOC2	57187	broad.mit.edu	37	X	122800961	122800961	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:122800961G>T	ENST00000245838.8	-	11	1217	c.1186C>A	c.(1186-1188)Cga>Aga	p.R396R	THOC2_ENST00000491737.1_Silent_p.R281R|THOC2_ENST00000355725.4_Silent_p.R396R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	396					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACATACCTTCGGTAGAGAGGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	94	99			NA	NA	X		NA											NA				122800961		1862	4080	5942	SO:0001819	synonymous_variant			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676	57187	57187		THO complex subunits	19073	protein-coding gene	gene with protein product		300395	chromosome X open reading frame 3	CXorf3	NA	11979277	Standard		NM_001081550	NA	Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1186C>A	X.37:g.122800961G>T		NA	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	37	CCDS43988.1																																																																																			THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058153.3		-	ENST00000245838.8	Silent	SNP	X : 122800961 - 122800961 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	871	10
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	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-A77Q-Tumor-SM-5KWXV	311	6
TMEM184C	55751	broad.mit.edu	37	4	148545043	148545043	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:148545043C>A	ENST00000296582.3	+	2	756	c.182C>A	c.(181-183)cCt>cAt	p.P61H	TMEM184C_ENST00000508208.1_Missense_Mutation_p.P61H	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	61						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTGACTATTCCTATATCACTG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	128	129			NA	NA	4		NA											NA				148545043		2202	4300	6502	SO:0001583	missense			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168	55751	55751			25587	protein-coding gene	gene with protein product		613937	transmembrane protein 34	TMEM34	NA		Standard	NM_018241	NM_018241	NA	Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.182C>A	4.37:g.148545043C>A	ENSP00000296582:p.Pro61His	NA	D3DP04|Q86X84|Q969I7|Q9NXM2	37	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780655	0.90195	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.41758	0.99;0.99	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.42464	-0.9450	10	0.15499	T	0.54	-16.4458	19.5645	0.95388	0.0:1.0:0.0:0.0	.	61	Q9NVA4	T184C_HUMAN	H	61	ENSP00000296582:P61H;ENSP00000425940:P61H	ENSP00000296582:P61H	P	+	2	0	TMEM184C	148764493	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.776000	0.85560	2.695000	0.91970	0.557000	0.71058	CCT	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364644.1		+	ENST00000296582.3	Missense_Mutation	SNP	4 : 148545043 - 148545043 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	513	8
TMOD4	29765	broad.mit.edu	37	1	151143009	151143009	+	Missense_Mutation	SNP	C	C	A	rs148198423		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:151143009C>A	ENST00000416280.2	-	7	893	c.794G>T	c.(793-795)cGa>cTa	p.R265L				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	334					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCATTGTTTCGGGTCATGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	167	170			NA	NA	1		NA											NA				151143009		2203	4300	6503	SO:0001583	missense			AF177173	CCDS988.1	1q12	2008-05-23			ENSG00000163157	ENSG00000163157	29765	29765			11874	protein-coding gene	gene with protein product	actin-capping protein	605834			NA	10662549, 10497209	Standard		NM_013353	NA	Approved	Sk-Tmod	uc001exc.4	Q9NZQ9	OTTHUMG00000012350	ENST00000416280.2:c.794G>T	1.37:g.151143009C>A	ENSP00000414180:p.Arg265Leu	NA	Q5JR83|Q8WVL3|Q9UKH2	37		.	.	.	.	.	.	.	.	.	.	C	16.31	3.087532	0.55968	.	.	ENSG00000163157	ENST00000295314;ENST00000416280	D;D	0.93859	-3.3;-3.3	5.88	4.0	0.46444	.	0.120572	0.52532	D	0.000062	D	0.92899	0.7741	M	0.86268	2.805	0.80722	D	1	D;P;B	0.56968	0.978;0.546;0.325	P;B;B	0.49752	0.621;0.226;0.176	D	0.93279	0.6658	10	0.87932	D	0	-20.417	9.6355	0.39804	0.0:0.7799:0.0:0.2201	.	265;334;334	B7Z6N9;Q9NZQ9;B2R891	.;TMOD4_HUMAN;.	L	334;265	ENSP00000295314:R334L;ENSP00000414180:R265L	ENSP00000295314:R334L	R	-	2	0	TMOD4	149409633	0.012000	0.17670	0.975000	0.42487	0.986000	0.74619	1.410000	0.34691	1.502000	0.48669	0.561000	0.74099	CGA	TMOD4-201	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000416280.2	Missense_Mutation	SNP	1 : 151143009 - 151143009 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	759	8
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125			NA	NA	17		NA											NA				7577539		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.742C>T	17.37:g.7577539G>A	ENSP00000391127:p.Arg248Trp	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	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577539 - 7577539 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	274	48
TPO	7173	broad.mit.edu	37	2	1497610	1497610	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:1497610G>A	ENST00000345913.4	+	11	1896	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	TPO_ENST00000346956.3_Missense_Mutation_p.R602H|TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000382198.1_Missense_Mutation_p.R429H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCTGCCTCGCCTGGAGACC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	52	48	49		1805,1805,1634,1634,1805,1286	4	0	2		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	602/934,602/934,545/877,545/877,602/890,429/761	1497610	1,13005	2203	4300	6503	SO:0001583	missense				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	7173	7173	1.11.1.7		12015	protein-coding gene	gene with protein product		606765			NA		Standard	NM_000547	NM_175722	NA	Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1805G>A	2.37:g.1497610G>A	ENSP00000318820:p.Arg602His	NA	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	37	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.53|13.53	2.266050|2.266050	0.40095|0.40095	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.84|4.84	3.96|3.96	0.45880|0.45880	.|.	.|0.089088	.|0.64402	.|D	.|0.000001	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.84773|0.84773	2.715|2.715	0.36481|0.36481	D|D	0.867864|0.867864	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.78314	.|0.984;0.967;0.976;0.991	D|D	0.84961|0.84961	0.0877|0.0877	5|10	.|0.66056	.|D	.|0.02	-13.2581|-13.2581	6.5333|6.5333	0.22339|0.22339	0.0741:0.1302:0.6611:0.1345|0.0741:0.1302:0.6611:0.1345	.|.	.|602;429;545;602	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|H	77|602;602;602;429;602;545;429;531;76	.|ENSP00000337263:R602H;ENSP00000318820:R602H;ENSP00000263886:R602H;ENSP00000332044:R429H;ENSP00000329869:R602H;ENSP00000371636:R545H;ENSP00000371633:R429H;ENSP00000405788:R531H;ENSP00000419461:R76H	.|ENSP00000329869:R602H	A|R	+|+	1|2	0|0	TPO|TPO	1476617|1476617	0.002000|0.002000	0.14202|0.14202	0.002000|0.002000	0.10522|0.10522	0.101000|0.101000	0.19017|0.19017	0.772000|0.772000	0.26647|0.26647	1.151000|1.151000	0.42436|0.42436	0.561000|0.561000	0.74099|0.74099	GCC|CGC	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206594.2		+	ENST00000345913.4	Missense_Mutation	SNP	2 : 1497610 - 1497610 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	115	23
TPP2	7174	broad.mit.edu	37	13	103328763	103328763	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103328763C>A	ENST00000376052.3	+	29	3713	c.3697C>A	c.(3697-3699)Caa>Aaa	p.Q1233K	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376065.4_Missense_Mutation_p.Q1220K			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1220					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATTGTATTCAAGTAAGTGA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	58	57			NA	NA	13		NA											NA				103328763		2198	4289	6487	SO:0001583	missense			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	7174	7174	3.4.14.10		12016	protein-coding gene	gene with protein product		190470			NA	1670990	Standard		NM_003291	NA	Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376052.3:c.3697C>A	13.37:g.103328763C>A	ENSP00000365220:p.Gln1233Lys	NA	Q5VZU8	37		.	.	.	.	.	.	.	.	.	.	C	16.65	3.183587	0.57800	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	L	0.55481	1.735	0.80722	D	1	P	0.44006	0.824	B	0.36092	0.217	T	0.50849	-0.8779	9	0.12430	T	0.62	.	20.0563	0.97651	0.0:1.0:0.0:0.0	.	1220	P29144	TPP2_HUMAN	K	1220;1233	.	ENSP00000365220:Q1233K	Q	+	1	0	TPP2	102126764	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.140000	0.77322	2.746000	0.94184	0.563000	0.77884	CAA	TPP2-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000045684.2		+	ENST00000376052.3	Missense_Mutation	SNP	13 : 103328763 - 103328763 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	745	13
TRIM42	287015	broad.mit.edu	37	3	140401487	140401487	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401487G>A	ENST00000286349.3	+	2	716	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	175						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTGCAGAAGCACGCCGAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	92	95			NA	NA	3		NA											NA				140401487		2203	4300	6503	SO:0001819	synonymous_variant			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890	287015	287015		Tripartite motif containing / Tripartite motif containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Fibronectin type III domain containing, RING-type (C3HC4) zinc fingers	19014	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 40		tripartite motif-containing 42		NA		Standard	NM_152616	NM_152616	NA	Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.525G>A	3.37:g.140401487G>A		NA	A1L4B4|Q8N832|Q8NDL3	37	CCDS3113.1																																																																																			TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359531.2		+	ENST00000286349.3	Silent	SNP	3 : 140401487 - 140401487 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	444	46
TRIM42	287015	broad.mit.edu	37	3	140401695	140401695	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401695C>T	ENST00000286349.3	+	2	924	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	245						intracellular	zinc ion binding	p.R245C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCAACAAGCGCATCGCTTA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											81	77	78			NA	NA	3		NA											NA				140401695		2203	4300	6503	SO:0001583	missense			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890	287015	287015		Tripartite motif containing / Tripartite motif containing, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Fibronectin type III domain containing, RING-type (C3HC4) zinc fingers	19014	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 40		tripartite motif-containing 42		NA		Standard	NM_152616	NM_152616	NA	Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.733C>T	3.37:g.140401695C>T	ENSP00000286349:p.Arg245Cys	NA	A1L4B4|Q8N832|Q8NDL3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565527	0.27915	.	.	ENSG00000155890	ENST00000286349	T	0.40476	1.03	5.2	3.2	0.36748	.	0.322034	0.24884	N	0.034840	T	0.39118	0.1066	L	0.43152	1.355	0.09310	N	0.999999	D	0.71674	0.998	P	0.47528	0.549	T	0.26467	-1.0102	10	0.87932	D	0	-34.1415	9.6896	0.40120	0.4607:0.5393:0.0:0.0	.	245	Q8IWZ5	TRI42_HUMAN	C	245	ENSP00000286349:R245C	ENSP00000286349:R245C	R	+	1	0	TRIM42	141884385	0.002000	0.14202	0.157000	0.22605	0.010000	0.07245	1.370000	0.34238	1.193000	0.43086	0.561000	0.74099	CGC	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359531.2		+	ENST00000286349.3	Missense_Mutation	SNP	3 : 140401695 - 140401695 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	461	47
TRPV6	55503	broad.mit.edu	37	7	142571251	142571251	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142571251C>A	ENST00000359396.3	-	13	1983	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	580					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGTGAGTGTCGCCCATCATG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	123	131			NA	NA	7		NA											NA				142571251		2203	4300	6503	SO:0001583	missense			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125	55503	55503		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	14006	protein-coding gene	gene with protein product		606680	epithelial calcium channel 2	ECAC2	NA	11097838, 11549322, 16382100, 16717058	Standard	NM_014274	NM_018646	NA	Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1738G>T	7.37:g.142571251C>A	ENSP00000352358:p.Asp580Tyr	NA	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048747	0.93740	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.92647	-3.08	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96396	0.9293	10	0.54805	T	0.06	-37.5871	18.5442	0.91040	0.0:1.0:0.0:0.0	.	580	Q9H1D0	TRPV6_HUMAN	Y	580;412	ENSP00000352358:D580Y	ENSP00000310825:D412Y	D	-	1	0	TRPV6	142281373	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.741000	0.84997	2.613000	0.88420	0.655000	0.94253	GAC	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347662.1		-	ENST00000359396.3	Missense_Mutation	SNP	7 : 142571251 - 142571251 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	421	8
TTC3	7267	broad.mit.edu	37	21	38501361	38501361	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:38501361C>A	ENST00000399017.2	+	16	4103	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.F452L|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L|TTC3_ENST00000355666.1_Missense_Mutation_p.F452L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	452					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGAAAAGTTCAGGTATGTTT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(38;194 1649 35661)							NA				0													80	86	84			NA	NA	21		NA											NA				38501361		2203	4296	6499	SO:0001583	missense			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670	7267	7267		RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing	12393	protein-coding gene	gene with protein product		602259			NA	8947847	Standard		NM_003316	NA	Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1356C>A	21.37:g.38501361C>A	ENSP00000381981:p.Phe452Leu	NA	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	5.465	0.270881	0.10349	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.38722	1.52;1.52;1.52;3.27;1.12;3.27;3.27	5.33	0.0492	0.14288	.	1.304020	0.05165	N	0.498569	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.999995	B;B	0.14012	0.0;0.009	B;B	0.09377	0.0;0.004	T	0.18398	-1.0338	10	0.11485	T	0.65	10.7736	2.9223	0.05773	0.2841:0.3761:0.2536:0.0862	.	142;452	B4DSZ9;P53804	.;TTC3_HUMAN	L	452;452;434;452;142;452;452	ENSP00000403943:F452L;ENSP00000408456:F452L;ENSP00000391891:F434L;ENSP00000347889:F452L;ENSP00000442875:F142L;ENSP00000381981:F452L;ENSP00000346791:F452L	ENSP00000346791:F452L	F	+	3	2	TTC3	37423231	0.076000	0.21285	0.369000	0.25952	0.767000	0.43475	-0.036000	0.12185	0.323000	0.23307	0.655000	0.94253	TTC	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194776.1		+	ENST00000399017.2	Missense_Mutation	SNP	21 : 38501361 - 38501361 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	380	8
TTLL6	284076	broad.mit.edu	37	17	46862366	46862366	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:46862366C>T	ENST00000393382.3	-	13	2100	c.1959G>A	c.(1957-1959)tcG>tcA	p.S653S	TTLL6_ENST00000433608.2_Silent_p.S346S	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	605						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTCCAACTTCGAGCTGCTGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	126	126			NA	NA	17		NA											NA				46862366		2203	4300	6503	SO:0001819	synonymous_variant			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703	284076	284076		Tubulin tyrosine ligase-like family	26664	protein-coding gene	gene with protein product		610849			NA	15890843	Standard	NM_173623	NM_173623	NA	Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1959G>A	17.37:g.46862366C>T		NA	B4DZJ5|C9J233|Q24KB1|Q24KB2|Q24KB6|Q24KF3|Q24KJ5|Q24KN7|Q24KS9|Q24KX1|Q24L13|Q24L55|Q24L76|Q8IYW6|Q8NA62	37	CCDS45724.1																																																																																			TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346939.3		-	ENST00000393382.3	Silent	SNP	17 : 46862366 - 46862366 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	568	85
TTN	7273	broad.mit.edu	37	2	179480172	179480172	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:179480172C>A	ENST00000589042.1	-	259	48724	c.48500G>T	c.(48499-48501)cGa>cTa	p.R16167L	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14526L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14526	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGGCTGTTCGATCTCTCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	222	222			NA	NA	2		NA											NA				179480172		1978	4153	6131	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.48500G>T	2.37:g.179480172C>A	ENSP00000467141:p.Arg16167Leu	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060814	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39226	0.1070	N	0.05330	-0.07	0.32798	N	0.500288	P;P;P;P	0.38992	0.653;0.653;0.653;0.653	B;B;B;B	0.41619	0.361;0.361;0.361;0.361	T	0.56288	-0.8004	9	0.87932	D	0	.	14.3984	0.67027	0.0:0.7375:0.2625:0.0	.	7102;7227;7294;14526	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	13599;7102;7294;7227;7102	ENSP00000343764:R13599L;ENSP00000434586:R7102L;ENSP00000340554:R7294L;ENSP00000352154:R7227L	ENSP00000340554:R7294L	R	-	2	0	TTN	179188417	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.362000	0.52314	2.720000	0.93068	0.655000	0.94253	CGA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179480172 - 179480172 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	900	15
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	C	T	rs16962973		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.T90T|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.T90T	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552		NA											C	8	0.0037	0.01	0.0028	2184	0.0017	0.9891	,	,	NA	0.0031	0.0026	NA	NA	0.0076	0.4223	EXOME	NA	NA	0.0015	SNP	Melanoma(163;1126 3406 34901)							NA				0													75	76	75			NA	NA	17		NA											NA				16285491		2203	4297	6500	SO:0001819	synonymous_variant				CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315	7314	7314			12463	protein-coding gene	gene with protein product	polyubiquitin B	191339			NA	2154095	Standard	NM_018955	NM_018955	NA	Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T		NA	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	37	CCDS11177.1																																																																																			UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130459.1		+	ENST00000395837.1	Silent	SNP	17 : 16285491 - 16285491 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	349	8
UBE2E3	10477	broad.mit.edu	37	2	181922476	181922476	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:181922476C>A	ENST00000410062.4	+	4	695	c.302C>A	c.(301-303)cCg>cAg	p.P101Q	UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602710.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602959.1_Missense_Mutation_p.P101Q	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	101				P -> L (in Ref. 3; AAP97266).	protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						CTTGGTCCACCGGGTTCTGTA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	121	119			NA	NA	2		NA											NA				181922476		2203	4300	6503	SO:0001583	missense			AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035	10477	10477		Ubiquitin-conjugating enzymes E2	12479	protein-coding gene	gene with protein product		604151	ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5), ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)		NA	10343118	Standard	NM_006357	NM_006357	NA	Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.302C>A	2.37:g.181922476C>A	ENSP00000386788:p.Pro101Gln	NA	B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	37	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553589	0.65425	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000426294;ENST00000409247	T;T	0.59906	0.23;0.23	4.88	4.88	0.63580	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.059057	0.64402	D	0.000003	T	0.50786	0.1636	L	0.31157	0.91	0.80722	D	1	B	0.19706	0.038	B	0.25614	0.062	T	0.51411	-0.8709	10	0.72032	D	0.01	.	18.5805	0.91168	0.0:1.0:0.0:0.0	.	101	Q969T4	UB2E3_HUMAN	Q	101	ENSP00000376215:P101Q;ENSP00000386788:P101Q	ENSP00000376215:P101Q	P	+	2	0	UBE2E3	181630721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.686000	0.91538	0.585000	0.79938	CCG	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255795.6		+	ENST00000410062.4	Missense_Mutation	SNP	2 : 181922476 - 181922476 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1071	12
USP37	57695	broad.mit.edu	37	2	219411667	219411667	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:219411667G>C	ENST00000415516.1	-	6	789	c.361C>G	c.(361-363)Ctt>Gtt	p.L121V	USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V|USP37_ENST00000418019.1_Missense_Mutation_p.L193V|USP37_ENST00000258399.3_Missense_Mutation_p.L193V			Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	193					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTGATCTAAGAGGTGTTGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	118	118			NA	NA	2		NA											NA				219411667		2203	4300	6503	SO:0001583	missense			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913	57695	57695		Ubiquitin-specific peptidases	20063	protein-coding gene	gene with protein product			ubiquitin specific protease 37		NA	12838346	Standard	NM_020935	NM_020935	NA	Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000415516.1:c.361C>G	2.37:g.219411667G>C	ENSP00000400902:p.Leu121Val	NA	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	37		.	.	.	.	.	.	.	.	.	.	G	6.869	0.529682	0.13127	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.44881	1.02;1.02;1.02;1.02;0.91	4.83	3.93	0.45458	.	0.503731	0.21796	N	0.068985	T	0.25531	0.0621	N	0.24115	0.695	0.25253	N	0.989657	P;B;B	0.47910	0.902;0.372;0.167	B;B;B	0.40066	0.318;0.053;0.016	T	0.09552	-1.0669	10	0.13853	T	0.58	-13.4553	11.632	0.51181	0.0864:0.0:0.9136:0.0	.	193;121;193	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	V	193;193;121;193;193	ENSP00000258399:L193V;ENSP00000393662:L193V;ENSP00000400902:L121V;ENSP00000396585:L193V;ENSP00000345043:L193V	ENSP00000258399:L193V	L	-	1	0	USP37	219119911	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.336000	0.59304	2.506000	0.84524	0.563000	0.77884	CTT	USP37-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338136.2		-	ENST00000415516.1	Missense_Mutation	SNP	2 : 219411667 - 219411667 C PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	645	98
USP53	54532	broad.mit.edu	37	4	120214304	120214304	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:120214304C>A	ENST00000274030.6	+	19	4339	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	USP53_ENST00000450251.1_Missense_Mutation_p.H1054N	NM_019050.2	NP_061923.2	Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	1054					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATTGAAATACCATCAGAGGCC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	49	50			NA	NA	4		NA											NA				120214304		1844	4088	5932	SO:0001583	missense			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390	54532	54532		Ubiquitin-specific peptidases	29255	protein-coding gene	gene with protein product			ubiquitin specific protease 53		NA	10718198, 14715245	Standard	XM_052597	NM_019050	NA	Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.3160C>A	4.37:g.120214304C>A	ENSP00000274030:p.His1054Asn	NA	Q68DA5|Q8WVQ5|Q9P2J7	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357258	0.61293	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.53857	0.6;0.6	5.89	4.16	0.48862	.	0.078821	0.53938	D	0.000049	T	0.49626	0.1568	M	0.66939	2.045	0.27596	N	0.949139	P	0.48764	0.915	B	0.40165	0.321	T	0.55730	-0.8095	10	0.87932	D	0	-14.5865	11.5943	0.50964	0.0:0.8585:0.0:0.1415	.	1054	Q70EK8	UBP53_HUMAN	N	1054	ENSP00000274030:H1054N;ENSP00000409906:H1054N	ENSP00000274030:H1054N	H	+	1	0	USP53	120433752	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.876000	0.48498	1.502000	0.48669	0.585000	0.79938	CAT	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364564.2		+	ENST00000274030.6	Missense_Mutation	SNP	4 : 120214304 - 120214304 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	438	9
UTP14C	9724	broad.mit.edu	37	13	52603100	52603100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:52603100G>T	ENST00000521776.2	+	2	893	c.160G>T	c.(160-162)Gga>Tga	p.G54*	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	54					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTCCCTTGATGGAAAGAATAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	210	208			NA	NA	13		NA											NA				52603100		2203	4300	6503	SO:0001587	stop_gained			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797	9724	9724			20321	protein-coding gene	gene with protein product		608969	KIAA0266	KIAA0266	NA	9039502, 16354793	Standard	NM_021645	NM_021645	NA	Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.160G>T	13.37:g.52603100G>T	ENSP00000428619:p.Gly54*	NA	Q5FWG3|Q92555	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	40	8.021356	0.98613	.	.	ENSG00000253797	ENST00000521776	.	.	.	2.69	2.69	0.31865	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.8199	11.1082	0.48216	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000428619:G54X	G	+	1	0	UTP14C	51501101	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.303000	0.51858	1.515000	0.48885	0.551000	0.68910	GGA	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045049.2		+	ENST00000521776.2	Nonsense_Mutation	SNP	13 : 52603100 - 52603100 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	874	12
VCAN	1462	broad.mit.edu	37	5	82868255	82868255	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:82868255C>A	ENST00000265077.3	+	13	10321	c.9756C>A	c.(9754-9756)ccC>ccA	p.P3252P	VCAN_ENST00000342785.4_Silent_p.P1498P|VCAN_ENST00000502527.2_Silent_p.P511P|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Silent_p.P2265P|VCAN_ENST00000512590.2_Silent_p.P1450P|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3252	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATTGGAGACCCAACCAGCCAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	131	131			NA	NA	5		NA											NA				82868255		2203	4300	6503	SO:0001819	synonymous_variant			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427	1462	1462		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	2464	protein-coding gene	gene with protein product	versican proteoglycan	118661	chondroitin sulfate proteoglycan 2	CSPG2	NA	1478664, 21063030	Standard	NM_004385	NM_004385	NA	Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9756C>A	5.37:g.82868255C>A		NA	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	37	CCDS4060.1																																																																																			VCAN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254092.3		+	ENST00000265077.3	Silent	SNP	5 : 82868255 - 82868255 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	630	8
VPS13B	157680	broad.mit.edu	37	8	100123331	100123331	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:100123331G>T	ENST00000358544.2	+	6	697	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000395996.1_Missense_Mutation_p.D196Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	196					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTAGCAACTGATTTGGTGCT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				0													57	60	59			NA	NA	8		NA											NA				100123331		2193	4298	6491	SO:0001583	missense			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.586G>T	8.37:g.100123331G>T	ENSP00000351346:p.Asp196Tyr	NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352102	0.82132	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.83506	-1.16;-0.45;-0.45;-0.16;-1.73	5.32	5.32	0.75619	.	0.058121	0.64402	D	0.000004	D	0.89196	0.6646	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.999;0.993;0.999;0.98	D;D;D;D;P	0.68039	0.939;0.915;0.911;0.955;0.804	D	0.90092	0.4178	10	0.87932	D	0	.	18.9995	0.92828	0.0:0.0:1.0:0.0	.	196;196;196;196;196	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Y	196	ENSP00000347281:D196Y;ENSP00000349685:D196Y;ENSP00000351346:D196Y;ENSP00000379318:D196Y;ENSP00000398472:D196Y	ENSP00000347281:D196Y	D	+	1	0	VPS13B	100192507	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.588000	0.98232	2.479000	0.83701	0.555000	0.69702	GAT	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Missense_Mutation	SNP	8 : 100123331 - 100123331 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	318	9
WSB1	26118	broad.mit.edu	37	17	25628876	25628876	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:25628876C>A	ENST00000427287.2	+	2	322				WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.R35S|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000262394.2_Missense_Mutation_p.R35S|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000579733.1_Intron			Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	NA					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAAATGTGGTCGTGAAAATTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													249	239	243			NA	NA	17		NA											NA				25628876		2203	4300	6503	SO:0001627	intron_variant			AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046	26118	26118		WD repeat domain containing	19221	protein-coding gene	gene with protein product		610091	WD repeat and SOCS box-containing 1		NA	10354473, 12076535	Standard	NM_015626	XR_243778	NA	Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000427287.2:c.41-31C>A	17.37:g.25628876C>A		NA	Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6	37		.	.	.	.	.	.	.	.	.	.	C	13.88	2.368309	0.42003	.	.	ENSG00000109046	ENST00000262394	T	0.43294	0.95	5.95	3.89	0.44902	.	0.455607	0.22917	N	0.054078	T	0.32133	0.0819	N	0.20986	0.625	0.80722	D	1	B;B	0.19073	0.004;0.033	B;B	0.19946	0.004;0.027	T	0.04635	-1.0937	10	0.42905	T	0.14	-15.6797	15.5864	0.76485	0.0:0.7304:0.2696:0.0	.	35;35	B4DTL1;Q9Y6I7	.;WSB1_HUMAN	S	35	ENSP00000262394:R35S	ENSP00000262394:R35S	R	+	1	0	WSB1	22653003	0.986000	0.35501	1.000000	0.80357	0.984000	0.73092	1.896000	0.39789	0.792000	0.33850	0.655000	0.94253	CGT	WSB1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445009.1		+	ENST00000427287.2	Intron	SNP	17 : 25628876 - 25628876 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	857	12
XCR1	2829	broad.mit.edu	37	3	46062772	46062772	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46062772G>A	ENST00000309285.3	-	2	1024	c.668C>T	c.(667-669)aCg>aTg	p.T223M	XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	223					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGCTTGACCGTGCGGTGGCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	62	64			NA	NA	3		NA											NA				46062772		2203	4300	6503	SO:0001583	missense				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578	2829	2829		GPCR / Class A : Chemokine receptors : X-C motif	1625	protein-coding gene	gene with protein product		600552	chemokine (C motif) XC receptor 1	GPR5, CCXCR1	NA	7832990, 10400311	Standard		NM_005283	NA	Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.668C>T	3.37:g.46062772G>A	ENSP00000310405:p.Thr223Met	NA		37	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391139	0.62066	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.38887	1.11;1.11	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.109301	0.64402	D	0.000006	T	0.72415	0.3457	M	0.88450	2.955	0.48571	D	0.999674	D	0.89917	1.0	D	0.85130	0.997	T	0.77135	-0.2699	10	0.87932	D	0	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	223	P46094	XCR1_HUMAN	M	223	ENSP00000310405:T223M;ENSP00000438119:T223M	ENSP00000310405:T223M	T	-	2	0	XCR1	46037776	1.000000	0.71417	0.542000	0.28115	0.351000	0.29236	7.903000	0.87398	2.696000	0.92011	0.650000	0.86243	ACG	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257322.2		-	ENST00000309285.3	Missense_Mutation	SNP	3 : 46062772 - 46062772 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	243	24
YEATS2	55689	broad.mit.edu	37	3	183479340	183479340	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183479340G>T	ENST00000305135.5	+	14	1897	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	568					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.G568W(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGCCCAATTGGGAGTCACCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											159	155	156			NA	NA	3		NA											NA				183479340		1869	4091	5960	SO:0001583	missense			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872	55689	55689			25489	protein-coding gene	gene with protein product		613373			NA	10574462	Standard	NM_018023	NM_018023	NA	Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1702G>T	3.37:g.183479340G>T	ENSP00000306983:p.Gly568Trp	NA	A7E2B9|D3DNS9|Q641P6|Q9NW96	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393441	0.83011	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30714	1.52	6.03	6.03	0.97812	.	0.361792	0.27691	N	0.018248	T	0.47248	0.1435	L	0.27053	0.805	0.49687	D	0.999813	D	0.89917	1.0	D	0.97110	1.0	T	0.43925	-0.9361	10	0.87932	D	0	-17.9952	20.5666	0.99351	0.0:0.0:1.0:0.0	.	568	Q9ULM3	YETS2_HUMAN	W	568	ENSP00000306983:G568W	ENSP00000306983:G568W	G	+	1	0	YEATS2	184962034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.120000	0.77153	2.854000	0.98071	0.655000	0.94253	GGG	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346507.2		+	ENST00000305135.5	Missense_Mutation	SNP	3 : 183479340 - 183479340 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	756	9
ZCCHC10	54819	broad.mit.edu	37	5	132362202	132362202	+	Missense_Mutation	SNP	C	C	T	rs143508297	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:132362202C>T	ENST00000513848.1	-	1	61	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.A10T			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	10							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTCCGGGCTATTAGCCGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	29	29			NA	NA	5		NA											NA				132362202		2203	4300	6503	SO:0001583	missense			BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329	54819	54819		Zinc fingers, CCHC domain containing	25954	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_017665	XM_005272024	NA	Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000513848.1:c.28G>A	5.37:g.132362202C>T	ENSP00000427430:p.Ala10Thr	NA	Q9NXR4	37		.	.	.	.	.	.	.	.	.	.	C	15.73	2.919083	0.52546	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848;ENST00000513541;ENST00000509008;ENST00000504170	.	.	.	4.84	4.84	0.62591	.	0.059049	0.64402	D	0.000003	T	0.70159	0.3192	.	.	.	0.31611	N	0.651506	D;D;D	0.67145	0.988;0.993;0.996	D;D;D	0.73708	0.981;0.956;0.981	T	0.73600	-0.3931	8	0.51188	T	0.08	.	15.1619	0.72791	0.0:1.0:0.0:0.0	.	10;10;10	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	T	10	.	ENSP00000324274:A10T	A	-	1	0	ZCCHC10	132390101	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.062000	0.57492	2.683000	0.91414	0.591000	0.81541	GCC	ZCCHC10-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000370161.1		-	ENST00000513848.1	Missense_Mutation	SNP	5 : 132362202 - 132362202 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	225	26
ZFHX4	79776	broad.mit.edu	37	8	77766289	77766289	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:77766289G>T	ENST00000521891.2	+	10	7580	c.7132G>T	c.(7132-7134)Gcc>Tcc	p.A2378S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2333	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACGCTGCTGCCCCTGCAGC	0.512		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	95	95			NA	NA	8		NA											NA				77766289		1996	4157	6153	SO:0001583	missense				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7132G>T	8.37:g.77766289G>T	ENSP00000430497:p.Ala2378Ser	NA	Q18PS0|Q6ZN20	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535947	0.27475	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.77;0.77	4.8	3.91	0.45181	.	0.861471	0.09598	U	0.780516	T	0.34483	0.0899	N	0.22421	0.69	0.21105	N	0.99978	B;B;B	0.15473	0.008;0.013;0.013	B;B;B	0.18561	0.01;0.022;0.022	T	0.14839	-1.0458	10	0.10636	T	0.68	.	13.5636	0.61804	0.0765:0.0:0.9235:0.0	.	2333;2333;2378	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2378;2362;2333;2333;2352	ENSP00000430497:A2378S;ENSP00000399605:A2333S;ENSP00000050961:A2333S;ENSP00000430848:A2352S	ENSP00000050961:A2333S	A	+	1	0	ZFHX4	77928844	0.860000	0.29831	0.005000	0.12908	0.896000	0.52359	4.707000	0.61852	1.210000	0.43336	0.650000	0.86243	GCC	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Missense_Mutation	SNP	8 : 77766289 - 77766289 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	388	49
ZNF14	7561	broad.mit.edu	37	19	19823005	19823005	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:19823005G>T	ENST00000344099.3	-	4	1223	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ACATTCATATGGTTTTTCTCC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	81	81			NA	NA	19		NA											NA				19823005		2203	4300	6503	SO:0001583	missense			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10				7561	7561		Zinc fingers, C2H2-type, -	12924	protein-coding gene	gene with protein product		194556	zinc finger protein 14 (KOX 6)		NA		Standard	NM_021030	NM_021030	NA	Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1085C>A	19.37:g.19823005G>T	ENSP00000340514:p.Pro362Gln	NA	B9EGA4|Q9ULZ5	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448100	0.63178	.	.	ENSG00000105708	ENST00000344099	T	0.17213	2.29	1.86	0.672	0.17935	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40979	0.1139	M	0.86028	2.79	0.24605	N	0.993751	D	0.89917	1.0	D	0.76575	0.988	T	0.14062	-1.0486	9	0.87932	D	0	.	7.6356	0.28264	0.0:0.2677:0.7323:0.0	.	362	P17017	ZNF14_HUMAN	Q	362	ENSP00000340514:P362Q	ENSP00000340514:P362Q	P	-	2	0	ZNF14	19684005	0.060000	0.20803	0.200000	0.23457	0.719000	0.41307	0.746000	0.26275	0.084000	0.17077	0.467000	0.42956	CCA	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460775.1		-	ENST00000344099.3	Missense_Mutation	SNP	19 : 19823005 - 19823005 T PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	416	8
ZNF200	7752	broad.mit.edu	37	16	3274343	3274343	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:3274343C>A	ENST00000431561.3	-	5	1349	c.737G>T	c.(736-738)cGg>cTg	p.R246L	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CCTTGTCCTCCGATTTCGAGT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	115	118			NA	NA	16		NA											NA				3274343		2197	4300	6497	SO:0001583	missense			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539	NA	7752		Zinc fingers, C2H2-type	12993	protein-coding gene	gene with protein product		603231			NA	9288094, 9787081	Standard		NM_003454	NA	Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.737G>T	16.37:g.3274343C>A	ENSP00000395723:p.Arg246Leu	NA	D3DUB8|O15361|Q5XKM5	37	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	7.491	0.650617	0.14516	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T	0.07216	3.21;3.24;3.25;3.31	5.17	2.19	0.27852	.	0.401360	0.18508	N	0.139141	T	0.06188	0.0160	L	0.27053	0.805	0.09310	N	1	B;B;B	0.31485	0.218;0.218;0.325	B;B;B	0.32724	0.072;0.072;0.151	T	0.31392	-0.9945	10	0.66056	D	0.02	-20.7119	6.6597	0.23007	0.0:0.631:0.0:0.369	.	245;246;245	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	L	246;245;245;245;246	ENSP00000380079:R246L;ENSP00000380077:R245L;ENSP00000380080:R245L;ENSP00000395723:R246L	ENSP00000380077:R245L	R	-	2	0	ZNF200	3214344	0.037000	0.19845	0.016000	0.15963	0.707000	0.40811	0.023000	0.13533	0.348000	0.23949	0.455000	0.32223	CGG	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437545.1		-	ENST00000431561.3	Missense_Mutation	SNP	16 : 3274343 - 3274343 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	560	7
ZNF221	7638	broad.mit.edu	37	19	44469186	44469186	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:44469186C>A	ENST00000251269.5	+	4	494	c.166C>A	c.(166-168)Cga>Aga	p.R56R	ZNF221_ENST00000587682.1_Silent_p.R56R|ZNF221_ENST00000592350.1_Silent_p.R56R	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	219	221			NA	NA	19		NA											NA				44469186		2203	4300	6503	SO:0001819	synonymous_variant			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905	7638	7638		Zinc fingers, C2H2-type, -	13014	protein-coding gene	gene with protein product					NA		Standard		NM_013359	NA	Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.166C>A	19.37:g.44469186C>A		NA	B2RAI6|Q2M2H2|Q9P1U8	37	CCDS12633.1																																																																																			ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460068.1		+	ENST00000251269.5	Silent	SNP	19 : 44469186 - 44469186 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	832	8
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	170	168			NA	NA	3		NA											NA				44763222		2203	4300	6503	SO:0001819	synonymous_variant			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653	91392	91392		Zinc fingers, C2H2-type	23718	protein-coding gene	gene with protein product					NA		Standard	NM_033210	NM_033210	NA	Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.913C>A	3.37:g.44763222C>A		NA		37	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	ZNF502	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256744.4		+	ENST00000296091.4	Silent	SNP	3 : 44763222 - 44763222 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	862	14
ZNF547	284306	broad.mit.edu	37	19	57883234	57883234	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:57883234C>A	ENST00000282282.3	+	3	259	c.109C>A	c.(109-111)Cgt>Agt	p.R37S	AC003002.4_ENST00000597658.1_Missense_Mutation_p.R37S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGCTGTACCGTGATGTGAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													419	380	393			NA	NA	19		NA											NA				57883234		2203	4300	6503	SO:0001583	missense			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433	284306	284306		Zinc fingers, C2H2-type, -	26432	protein-coding gene	gene with protein product					NA		Standard	NM_173631	NM_173631	NA	Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.109C>A	19.37:g.57883234C>A	ENSP00000282282:p.Arg37Ser	NA	A8K5Z9|Q96NC4	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	6.695	0.496785	0.12762	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.02656	4.21	2.01	0.202	0.15190	Krueppel-associated box (4);	.	.	.	.	T	0.06096	0.0158	M	0.92026	3.265	0.09310	N	1	B;B	0.30634	0.288;0.009	B;B	0.28385	0.089;0.015	T	0.21895	-1.0232	9	0.48119	T	0.1	.	3.8214	0.08837	0.0:0.6244:0.0:0.3756	.	37;37	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	S	37	ENSP00000282282:R37S	ENSP00000282282:R37S	R	+	1	0	ZNF547	62575046	0.000000	0.05858	0.039000	0.18376	0.709000	0.40893	-1.715000	0.01880	0.084000	0.17077	0.561000	0.74099	CGT	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465787.1		+	ENST00000282282.3	Missense_Mutation	SNP	19 : 57883234 - 57883234 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	1211	10
ZNF613	79898	broad.mit.edu	37	19	52447796	52447796	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52447796C>A	ENST00000293471.6	+	6	1339	c.660C>A	c.(658-660)atC>atA	p.I220I	ZNF613_ENST00000391794.4_Silent_p.I184I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCGCCTCATCTATCATCAGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	165	163			NA	NA	19		NA											NA				52447796		2203	4300	6503	SO:0001819	synonymous_variant			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08					79898	79898		Zinc fingers, C2H2-type, -	25827	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024840	NM_001031721	NA	Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.660C>A	19.37:g.52447796C>A		NA	Q96SS9	37	CCDS33089.1																																																																																			ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461104.2		+	ENST00000293471.6	Silent	SNP	19 : 52447796 - 52447796 A PAAD-TCGA-HZ-A77Q-Tumor-SM-5KWXV	903	10
