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
ADRBK1	156	broad.mit.edu	37	11	67048254	67048254	+	Splice_Site	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:67048254C>T	ENST00000308595.5	+	7	845	c.555C>T	c.(553-555)caC>caT	p.H185H	ADRBK1_ENST00000526285.1_Splice_Site_p.H185H	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	185	N-terminal.			SDKFTRFCQWKNVELNIH -> RISSHGFASGRMWSSTST (in Ref. 3; AAB60689).	activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCAACATCCACGTGAGTGGGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	182	182			NA	NA	11		NA											NA				67048254		2200	4295	6495	SO:0001630	splice_region_variant			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020	156	156		Pleckstrin homology (PH) domain containing	289	protein-coding gene	gene with protein product		109635			NA	2037065	Standard	NM_001619	NM_001619	NA	Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.555+1C>T	11.37:g.67048254C>T		NA	B0ZBE1|Q13837|Q6GTT3	37	CCDS8156.1																																																																																			ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393153.1	Silent	+	ENST00000308595.5	Splice_Site	SNP	11 : 67048254 - 67048254 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	1202	371
AHNAK	79026	broad.mit.edu	37	11	62299013	62299013	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:62299013T>G	ENST00000378024.4	-	5	3150	c.2876A>C	c.(2875-2877)aAa>aCa	p.K959T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	959					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)				TCCCTTTACTTTAGGACCTTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	154	151			NA	NA	11		NA											NA				62299013		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.2876A>C	11.37:g.62299013T>G	ENSP00000367263:p.Lys959Thr	NA		37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	9.875	1.200010	0.22121	.	.	ENSG00000124942	ENST00000378024	T	0.01665	4.7	4.8	3.66	0.41972	.	0.240370	0.41823	D	0.000807	T	0.09069	0.0224	H	0.95402	3.665	0.26966	N	0.965691	P	0.50528	0.936	P	0.51415	0.669	T	0.16247	-1.0409	10	0.30078	T	0.28	-2.0869	10.1142	0.42581	0.0:0.0808:0.0:0.9192	.	959	Q09666	AHNK_HUMAN	T	959	ENSP00000367263:K959T	ENSP00000367263:K959T	K	-	2	0	AHNAK	62055589	0.273000	0.24181	0.993000	0.49108	0.053000	0.15095	1.372000	0.34261	0.683000	0.31428	0.374000	0.22700	AAA	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Missense_Mutation	SNP	11 : 62299013 - 62299013 G PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	1015	26
AHNAK2	113146	broad.mit.edu	37	14	105420573	105420573	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr14:105420573G>A	ENST00000333244.5	-	7	1334	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	405						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGTTCCCTCGCAAAGTCTAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4126		0,0,2063	82	86	85		1215	-4.4	0	14		85	2,8430		0,2,4214	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6277	AA,AG,GG	NA	0.0237,0.0,0.0159		405/5796	105420573	2,12556	2063	4216	6279	SO:0001819	synonymous_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1215C>T	14.37:g.105420573G>A		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37	CCDS45177.1																																																																																			AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410300.1		-	ENST00000333244.5	Silent	SNP	14 : 105420573 - 105420573 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	362	60
AHRR	57491	broad.mit.edu	37	5	434610	434610	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:434610G>A	ENST00000316418.5	+	12	1865	c.1821G>A	c.(1819-1821)tcG>tcA	p.S607S	AHRR_ENST00000506456.1_Silent_p.S445S|AHRR_ENST00000512529.1_Silent_p.S435S|AHRR_ENST00000505113.1_Silent_p.S589S	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	589	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGTACATCTCGCACCTGGGGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	35	34			NA	NA	5		NA											NA				434610		2102	4232	6334	SO:0001819	synonymous_variant			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438	57491	57491		Basic helix-loop-helix proteins	346	protein-coding gene	gene with protein product		606517	aryl hydrocarbon receptor regulator	AHH, AHHR	NA	1070014, 11423533	Standard	NM_020731	NM_020731	NA	Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000316418.5:c.1821G>A	5.37:g.434610G>A		NA	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	37	CCDS43297.1																																																																																			AHRR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367719.2		+	ENST00000316418.5	Silent	SNP	5 : 434610 - 434610 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	194	62
AP3M2	10947	broad.mit.edu	37	8	42023053	42023053	+	Silent	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr8:42023053C>T	ENST00000518421.1	+	7	1069	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Silent_p.L260L|AP3M2_ENST00000517922.1_Silent_p.L260L|AP3M2_ENST00000396926.3_Silent_p.L260L	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	260	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTTCCGCCTGCTGTCTTACCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	162	170			NA	NA	8		NA											NA				42023053		2203	4300	6503	SO:0001819	synonymous_variant			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718	10947	10947			570	protein-coding gene	gene with protein product		610469			NA	7601449	Standard		NM_006803	NA	Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.778C>T	8.37:g.42023053C>T		NA	B2RCR0|D3DSY2	37	CCDS6125.1																																																																																			AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376996.1		+	ENST00000518421.1	Silent	SNP	8 : 42023053 - 42023053 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	764	18
ARHGAP6	395	broad.mit.edu	37	X	11187680	11187680	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:11187680G>A	ENST00000337414.4	-	9	2626	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.T410M|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.T617M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.T585M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.T394M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.T382M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.T382M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	585	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GATGATGGCCGTGCTCTCCTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR,MET/THR,MET/THR	1,3834		0,1,1631,571	167	129	142		1754,1145,1754	5.6	1	X		142	0,6728		0,0,2428,1872	no	missense,missense,missense	ARHGAP6	NM_006125.2,NM_013423.2,NM_013427.2	81,81,81	0,1,4059,2443	AA,AG,GG,G	NA	0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging	585/766,382/772,585/975	11187680	1,10562	2203	4300	6503	SO:0001583	missense			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648	395	395		Rho GTPase activating proteins	676	protein-coding gene	gene with protein product		300118			NA	9417914	Standard	NM_013427	XM_005274507	NA	Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1754C>T	X.37:g.11187680G>A	ENSP00000338967:p.Thr585Met	NA	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622793	0.66787	2.61E-4	0.0	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.57	5.57	0.84162	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.53938	D	0.000044	T	0.55641	0.1933	L	0.45051	1.395	0.58432	D	0.999995	D;D;D;D;D	0.89917	0.999;0.996;1.0;0.998;1.0	P;P;D;D;D	0.69824	0.791;0.813;0.966;0.917;0.964	T	0.55829	-0.8079	10	0.54805	T	0.06	.	14.2504	0.66016	0.0:0.0:0.8507:0.1493	.	394;382;585;585;585	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	M	410;382;382;585;421;585;394;617	ENSP00000438135:T410M;ENSP00000370112:T382M;ENSP00000302312:T382M;ENSP00000338967:T585M;ENSP00000370093:T421M;ENSP00000370094:T585M;ENSP00000389394:T394M;ENSP00000370108:T617M	ENSP00000302312:T382M	T	-	2	0	ARHGAP6	11097601	1.000000	0.71417	0.975000	0.42487	0.717000	0.41224	6.141000	0.71744	2.344000	0.79699	0.544000	0.68410	ACG	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055760.2		-	ENST00000337414.4	Missense_Mutation	SNP	X : 11187680 - 11187680 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	461	88
B3GALT1	8708	broad.mit.edu	37	2	168726199	168726199	+	Missense_Mutation	SNP	G	G	A	rs148250645	by1000genomes	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:168726199G>A	ENST00000392690.3	+	1	742	c.650G>A	c.(649-651)cGc>cAc	p.R217H	AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.R217H			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	NA					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CGGGATGTCCGCAGTAAGTGG	0.453		NA											G	2	9e-04	NA	NA	2184	0.0035	0.9995	,	,	NA	3e-04	NA	NA	NA	0.0011	0.8998	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								G	HIS/ARG	0,4406		0,0,2203	104	102	103		650	5.1	1	2	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense	B3GALT1	NM_020981.3	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	217/327	168726199	1,13005	2203	4300	6503	SO:0001583	missense			E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318	8708	8708		Beta 3-glycosyltransferases	916	protein-coding gene	gene with protein product		603093			NA	9582303	Standard	NM_020981	NM_020981	NA	Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.650G>A	2.37:g.168726199G>A	ENSP00000376456:p.Arg217His	NA	D3DPB8|Q53SS2	37	CCDS2227.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.23	2.174355	0.38413	0.0	1.16E-4	ENSG00000172318	ENST00000305861;ENST00000392690	D;D	0.85258	-1.96;-1.96	6.02	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	L	0.28274	0.84	0.58432	D	0.99999	B	0.20671	0.047	B	0.19946	0.027	T	0.72827	-0.4175	10	0.39692	T	0.17	-16.8954	16.7521	0.85488	0.0:0.0:0.8704:0.1295	.	217	Q9Y5Z6	B3GT1_HUMAN	H	217	ENSP00000303740:R217H;ENSP00000376456:R217H	ENSP00000303740:R217H	R	+	2	0	B3GALT1	168434445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.976000	0.88070	2.865000	0.98341	0.655000	0.94253	CGC	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255211.2		+	ENST00000392690.3	Missense_Mutation	SNP	2 : 168726199 - 168726199 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	318	100
BCR	613	broad.mit.edu	37	22	23596046	23596046	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr22:23596046G>A	ENST00000305877.8	+	2	2091	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	BCR_ENST00000359540.3_Missense_Mutation_p.R447H	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	447					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GAGGAGCAGCGCCGGCACCAA	0.622		NA	T	ABL1,  FGFR1, JAK2 	CML, ALL, AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													60	52	55			NA	NA	22		NA											NA				23596046		2202	4299	6501	SO:0001583	missense				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716	613	613		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1	NA	1657398, 18070886	Standard	NM_004327	NM_004327	NA	Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1340G>A	22.37:g.23596046G>A	ENSP00000303507:p.Arg447His	NA	P78501|Q12842|Q4LE80|Q6NZI3	37	CCDS13806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.104628|5.104628	0.94245|0.94245	.|.	.|.	ENSG00000186716|ENSG00000186716	ENST00000334149|ENST00000305877;ENST00000359540	.|T;T	.|0.30714	.|1.55;1.52	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.139385	.|0.47852	.|D	.|0.000211	T|T	0.33147|0.33147	0.0853|0.0853	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.61080	.|0.873;0.989;0.981	.|B;P;P	.|0.51974	.|0.256;0.686;0.488	T|T	0.04593|0.04593	-1.0940|-1.0940	6|10	0.13470|0.72032	T|D	0.59|0.01	.|.	12.4859|12.4859	0.55872|0.55872	0.0818:0.0:0.9182:0.0|0.0818:0.0:0.9182:0.0	.|.	.|36;447;447	.|B4E065;P11274-2;P11274	.|.;.;BCR_HUMAN	T|H	112|447	.|ENSP00000303507:R447H;ENSP00000352535:R447H	ENSP00000335450:A112T|ENSP00000303507:R447H	A|R	+|+	1|2	0|0	BCR|BCR	21926046|21926046	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.513000|2.513000	0.45494|0.45494	2.688000|2.688000	0.91661|0.91661	0.591000|0.591000	0.81541|0.81541	GCC|CGC	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075819.1		+	ENST00000305877.8	Missense_Mutation	SNP	22 : 23596046 - 23596046 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	304	86
C2orf44	80304	broad.mit.edu	37	2	24262175	24262175	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:24262175A>G	ENST00000406895.3	-	2	255	c.190T>C	c.(190-192)Tcc>Ccc	p.S64P	C2orf44_ENST00000295148.4_Missense_Mutation_p.S64P	NM_001142319.1	NP_001135791.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	64							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCCCAGGACAACCCACAG	0.517		NA	T	ALK	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													127	109	115			NA	NA	2		NA											NA				24262175		2203	4300	6503	SO:0001583	missense			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026	80304	80304			26157	protein-coding gene	gene with protein product					NA	22327622	Standard	NM_025203	NM_025203	NA	Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000406895.3:c.190T>C	2.37:g.24262175A>G	ENSP00000385816:p.Ser64Pro	NA	D6W532|Q8IYK0|Q9HBP5	37	CCDS46229.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599470	0.66332	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.54071	3.31;3.31;0.59	5.24	5.24	0.73138	.	0.230586	0.47455	D	0.000236	T	0.66117	0.2757	M	0.62723	1.935	0.30894	N	0.730021	D;D	0.63880	0.993;0.993	P;P	0.61132	0.884;0.884	T	0.68236	-0.5462	10	0.36615	T	0.2	-4.878	15.4386	0.75165	1.0:0.0:0.0:0.0	.	64;64	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	P	64	ENSP00000295148:S64P;ENSP00000385816:S64P;ENSP00000413426:S64P	ENSP00000295148:S64P	S	-	1	0	C2orf44	24115679	1.000000	0.71417	0.935000	0.37517	0.714000	0.41099	7.490000	0.81461	2.115000	0.64714	0.533000	0.62120	TCC	C2orf44-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324347.2		-	ENST00000406895.3	Missense_Mutation	SNP	2 : 24262175 - 24262175 G PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	308	86
C4orf21	0	broad.mit.edu	37	4	113511003	113511003	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:113511003T>A	ENST00000505019.1	-	11	3129	c.3004A>T	c.(3004-3006)Aca>Tca	p.T1002S	C4orf21_ENST00000309071.5_Missense_Mutation_p.T1002S	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		1002										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GGGCTCAATGTAGAGATGTTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	59	59			NA	NA	4		NA											NA				113511003		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000505019.1:c.3004A>T	4.37:g.113511003T>A	ENSP00000424737:p.Thr1002Ser	NA	Q9NUJ4	37		.	.	.	.	.	.	.	.	.	.	T	8.042	0.764003	0.15914	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.82984	-1.67;1.92	5.23	1.42	0.22433	.	0.154469	0.30584	N	0.009308	T	0.81283	0.4790	L	0.57536	1.79	0.23298	N	0.997957	D;P	0.52996	0.957;0.95	P;P	0.52856	0.711;0.684	T	0.70044	-0.4980	10	0.20046	T	0.44	-3.4573	6.8286	0.23897	0.0:0.2906:0.0:0.7094	.	1002;1002	Q86YA3;G5EA02	CD021_HUMAN;.	S	1002	ENSP00000424737:T1002S;ENSP00000309095:T1002S	ENSP00000309095:T1002S	T	-	1	0	C4orf21	113730452	0.001000	0.12720	0.002000	0.10522	0.064000	0.16182	-0.294000	0.08309	0.073000	0.16731	0.477000	0.44152	ACA	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000256413.1		-	ENST00000505019.1	Missense_Mutation	SNP	4 : 113511003 - 113511003 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	273	111
CAD	790	broad.mit.edu	37	2	27449518	27449518	+	Splice_Site	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:27449518G>A	ENST00000403525.1	+	13	2111		c.e13+1		CAD_ENST00000264705.4_Splice_Site			P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	NA					'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGAGCTCAGGTACGAGGATG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	58	60			NA	NA	2		NA											NA				27449518		2203	4300	6503	SO:0001630	splice_region_variant			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	790	790	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010			NA	8619816, 2565865	Standard		NM_004341	NA	Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1967+1G>A	2.37:g.27449518G>A		NA	D6W552|Q6P0Q0	37		.	.	.	.	.	.	.	.	.	.	G	19.44	3.828761	0.71258	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0413	0.86490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAD	27303022	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	8.942000	0.92970	2.358000	0.79984	0.485000	0.47835	.	CAD-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000324970.1	Intron	+	ENST00000403525.1	Splice_Site	SNP	2 : 27449518 - 27449518 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	187	56
CAPZA1	829	broad.mit.edu	37	1	113162484	113162484	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:113162484T>A	ENST00000263168.3	+	1	690	c.18T>A	c.(16-18)gaT>gaA	p.D6E	ST7L_ENST00000463235.1_Intron|CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	6					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTCGATGATCGTGTGTCGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	32	35			NA	NA	1		NA											NA				113162484		2203	4300	6503	SO:0001583	missense			U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489	829	829			1488	protein-coding gene	gene with protein product		601580			NA	7665558, 9119363	Standard	NM_006135	NM_006135	NA	Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.18T>A	1.37:g.113162484T>A	ENSP00000263168:p.Asp6Glu	NA	Q53FQ6|Q6FHD5	37	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753284	0.31046	.	.	ENSG00000116489	ENST00000263168	.	.	.	6.17	6.17	0.99709	.	0.161441	0.53938	D	0.000048	T	0.19565	0.0470	N	0.02765	-0.5	0.80722	D	1	P	0.37176	0.586	P	0.47744	0.556	T	0.31779	-0.9931	9	0.02654	T	1	-1.0931	14.3455	0.66658	0.0:0.0:0.0:1.0	.	6	P52907	CAZA1_HUMAN	E	6	.	ENSP00000263168:D6E	D	+	3	2	CAPZA1	112964007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.547000	0.36190	2.371000	0.80710	0.533000	0.62120	GAT	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032567.2		+	ENST00000263168.3	Missense_Mutation	SNP	1 : 113162484 - 113162484 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	117	14
CAPZA1	829	broad.mit.edu	37	1	113162485	113162485	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:113162485C>T	ENST00000263168.3	+	1	691	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	ST7L_ENST00000463235.1_Intron|CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	7					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCGATGATCGTGTGTCGGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	33	36			NA	NA	1		NA											NA				113162485		2203	4300	6503	SO:0001583	missense			U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489	829	829			1488	protein-coding gene	gene with protein product		601580			NA	7665558, 9119363	Standard	NM_006135	NM_006135	NA	Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.19C>T	1.37:g.113162485C>T	ENSP00000263168:p.Arg7Cys	NA	Q53FQ6|Q6FHD5	37	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310470	0.81358	.	.	ENSG00000116489	ENST00000263168	.	.	.	6.17	6.17	0.99709	.	0.195980	0.45361	D	0.000364	T	0.56171	0.1967	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.59968	-0.7354	9	0.56958	D	0.05	-3.1307	17.7962	0.88572	0.0:1.0:0.0:0.0	.	7	P52907	CAZA1_HUMAN	C	7	.	ENSP00000263168:R7C	R	+	1	0	CAPZA1	112964008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.595000	0.61048	2.941000	0.99782	0.655000	0.94253	CGT	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032567.2		+	ENST00000263168.3	Missense_Mutation	SNP	1 : 113162485 - 113162485 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	116	14
CCT8	10694	broad.mit.edu	37	21	30434482	30434482	+	Silent	SNP	G	G	A	rs148753136	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr21:30434482G>A	ENST00000286788.4	-	11	1385	c.1179C>T	c.(1177-1179)gaC>gaT	p.D393D	CCT8_ENST00000542732.1_Silent_p.D374D|CCT8_ENST00000540844.1_Silent_p.D320D|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	393					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	p.D393D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TAACACCATCGTCTACTGCCC	0.358		NA											G	2	9e-04	0.002	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	9e-04	1	LOWCOV	NA	NA	0.0011	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)						G		28,4378	33.5+/-64.1	0,28,2175	172	164	167		1179	1.3	1	21	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	CCT8	NM_006585.2		0,28,6475	AA,AG,GG	NA	0.0,0.6355,0.2153		393/549	30434482	28,12978	2203	4300	6503	SO:0001819	synonymous_variant			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261	10694	10694		Heat Shock Proteins / Chaperonins	1623	protein-coding gene	gene with protein product			chromosome 21 open reading frame 112	C21orf112	NA	7890169	Standard		NM_006585	NA	Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1179C>T	21.37:g.30434482G>A		NA	A6NN54|Q4VBP8	37	CCDS33528.1																																																																																			CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171822.1		-	ENST00000286788.4	Silent	SNP	21 : 30434482 - 30434482 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	481	11
CDH9	1007	broad.mit.edu	37	5	26889954	26889954	+	Silent	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:26889954T>C	ENST00000231021.4	-	9	1675	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	501	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCTGCCCAGGTTTTGCATTTT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(8;187 585 15745 40864 52829)							NA				0													77	79	79			NA	NA	5		NA											NA				26889954		2203	4300	6503	SO:0001819	synonymous_variant			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100	1007	1007		Cadherins / Major cadherins	1768	protein-coding gene	gene with protein product		609974			NA	2059658	Standard	NM_016279	NM_016279	NA	Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1503A>G	5.37:g.26889954T>C		NA	Q3B7I5	37	CCDS3893.1																																																																																			CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207352.1		-	ENST00000231021.4	Silent	SNP	5 : 26889954 - 26889954 C PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	406	192
CEPT1	10390	broad.mit.edu	37	1	111702113	111702113	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:111702113G>T	ENST00000545121.1	+	3	659	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	CEPT1_ENST00000357172.4_Nonsense_Mutation_p.E151*	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	151						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TCCTCTGGGAGAACTTTTTGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	133	133			NA	NA	1		NA											NA				111702113		2203	4300	6503	SO:0001587	stop_gained			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	10390	10390	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product					NA	10191259, 12216837	Standard	NM_006090	XM_005270353	NA	Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.451G>T	1.37:g.111702113G>T	ENSP00000441980:p.Glu151*	NA	Q69YJ9|Q9P0Y8	37	CCDS830.1	.	.	.	.	.	.	.	.	.	.	G	37	6.135643	0.97315	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-41.1206	16.8534	0.86000	0.0:0.0:1.0:0.0	.	.	.	.	X	151	.	ENSP00000349696:E151X	E	+	1	0	CEPT1	111503636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.568000	0.86640	0.655000	0.94253	GAA	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034462.2		+	ENST00000545121.1	Nonsense_Mutation	SNP	1 : 111702113 - 111702113 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	572	159
CHST12	55501	broad.mit.edu	37	7	2473140	2473140	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:2473140G>A	ENST00000258711.6	+	2	1001	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	289					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCTCGGCGCGCGAGGCCTTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	45	44			NA	NA	7		NA											NA				2473140		2202	4295	6497	SO:0001583	missense			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	55501	55501	2.8.2.5	Sulfotransferases, membrane-bound	17423	protein-coding gene	gene with protein product		610129			NA	10781601	Standard	NM_018641	NM_018641	NA	Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.866G>A	7.37:g.2473140G>A	ENSP00000258711:p.Arg289His	NA	A4D1Z9|Q502W3|Q9NXY7	37	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183472	0.21870	.	.	ENSG00000136213	ENST00000258711	T	0.74106	-0.81	5.27	4.38	0.52667	.	1.737820	0.03407	N	0.204206	T	0.66626	0.2808	L	0.32530	0.975	0.23673	N	0.997141	P	0.34615	0.459	B	0.19666	0.026	T	0.57825	-0.7744	10	0.48119	T	0.1	-6.0021	13.4009	0.60883	0.0759:0.0:0.9241:0.0	.	289	Q9NRB3	CHSTC_HUMAN	H	289	ENSP00000258711:R289H	ENSP00000258711:R289H	R	+	2	0	CHST12	2439666	0.995000	0.38212	0.794000	0.32065	0.913000	0.54294	2.682000	0.46934	1.221000	0.43506	0.462000	0.41574	CGC	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060170.3		+	ENST00000258711.6	Missense_Mutation	SNP	7 : 2473140 - 2473140 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	603	110
COL4A5	1287	broad.mit.edu	37	X	107849999	107849999	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:107849999C>A	ENST00000328300.6	+	29	2516	c.2272C>A	c.(2272-2274)Cca>Aca	p.P758T	COL4A5_ENST00000361603.2_Missense_Mutation_p.P758T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	758	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTACCTGGGCCACCTGGGCC	0.507		NA							Alport syndrome with Diffuse Leiomyomatosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	118	127			NA	NA	X		NA											NA				107849999		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153	1287	1287		Collagens	2207	protein-coding gene	gene with protein product		303630	Alport syndrome	ASLN, ATS	NA		Standard		NM_000495	NA	Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000328300.6:c.2272C>A	X.37:g.107849999C>A	ENSP00000331902:p.Pro758Thr	NA	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	37	CCDS35366.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392716	0.62066	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97710	-4.5;-4.5	5.61	5.61	0.85477	.	0.121540	0.56097	D	0.000027	D	0.98071	0.9364	M	0.66506	2.035	0.53688	D	0.999976	D;D;D	0.69078	0.982;0.997;0.982	P;D;P	0.63113	0.812;0.911;0.812	D	0.97820	1.0256	10	0.14656	T	0.56	.	18.6523	0.91435	0.0:1.0:0.0:0.0	.	758;366;758	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	T	758	ENSP00000331902:P758T;ENSP00000354505:P758T	ENSP00000331902:P758T	P	+	1	0	COL4A5	107736655	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.456000	0.80751	2.348000	0.79779	0.600000	0.82982	CCA	COL4A5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360023.1		+	ENST00000328300.6	Missense_Mutation	SNP	X : 107849999 - 107849999 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	545	11
ECT2	1894	broad.mit.edu	37	3	172534509	172534509	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr3:172534509C>T	ENST00000417960.1	+	24	2918	c.2441C>T	c.(2440-2442)aCt>aTt	p.T814I	ECT2_ENST00000232458.5_Missense_Mutation_p.T815I|ECT2_ENST00000392692.3_Missense_Mutation_p.T846I|ECT2_ENST00000427830.1_Missense_Mutation_p.T815I|ECT2_ENST00000441497.2_Missense_Mutation_p.T815I|ECT2_ENST00000540509.1_Missense_Mutation_p.T846I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	815					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTCTCCAAAACTCCAAAAAGA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	66	65			NA	NA	3		NA											NA				172534509		2203	4299	6502	SO:0001583	missense			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346	1894	1894		Rho guanine nucleotide exchange factors	3155	protein-coding gene	gene with protein product		600586	epithelial cell transforming sequence 2 oncogene		NA	8464478, 10579713	Standard	NM_018098	NM_018098	NA	Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000417960.1:c.2441C>T	3.37:g.172534509C>T	ENSP00000415876:p.Thr814Ile	NA	Q2M269|Q9NSV8|Q9NVW9	37		.	.	.	.	.	.	.	.	.	.	C	24.4	4.523463	0.85600	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.75260	-0.8;-0.86;-0.92;-0.8;-0.8;-0.86	5.58	5.58	0.84498	.	0.129180	0.64402	D	0.000001	D	0.84465	0.5478	M	0.73217	2.22	0.80722	D	1	P;D;D;D;B	0.63880	0.867;0.967;0.966;0.993;0.134	P;P;P;P;B	0.61003	0.533;0.823;0.744;0.882;0.041	D	0.85923	0.1447	10	0.87932	D	0	-7.6751	18.3345	0.90283	0.0:1.0:0.0:0.0	.	846;291;846;815;814	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	I	815;846;815;814;815;846	ENSP00000232458:T815I;ENSP00000376457:T846I;ENSP00000401910:T815I;ENSP00000415876:T814I;ENSP00000412259:T815I;ENSP00000443160:T846I	ENSP00000232458:T815I	T	+	2	0	ECT2	174017203	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.978000	0.70501	2.630000	0.89119	0.561000	0.74099	ACT	ECT2-004	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000345995.3		+	ENST00000417960.1	Missense_Mutation	SNP	3 : 172534509 - 172534509 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	276	79
EMR3	84658	broad.mit.edu	37	19	14749135	14749135	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:14749135G>A	ENST00000253673.5	-	11	1366	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	EMR3_ENST00000443157.2_Silent_p.I296I|EMR3_ENST00000599900.1_Silent_p.I207I|EMR3_ENST00000344373.4_Silent_p.I370I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	422					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AAGCACCGGCGATGATGGAGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	62	67			NA	NA	19		NA											NA				14749135		2203	4300	6503	SO:0001819	synonymous_variant			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355	84658	84658		-, GPCR / Class B : Orphans	23647	protein-coding gene	gene with protein product		606101			NA	11279179, 12975309	Standard	NM_032571	XM_005260118	NA	Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1266C>T	19.37:g.14749135G>A		NA		37	CCDS12315.1																																																																																			EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466488.1		-	ENST00000253673.5	Silent	SNP	19 : 14749135 - 14749135 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	175	30
EXOC5	10640	broad.mit.edu	37	14	57698417	57698417	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr14:57698417T>A	ENST00000413566.2	-	11	1314	c.955A>T	c.(955-957)Agc>Tgc	p.S319C	EXOC5_ENST00000340918.7_Missense_Mutation_p.S254C	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	319					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATCAGCTTGCTGGAAAGATTG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	58	58			NA	NA	14		NA											NA				57698417		1814	4072	5886	SO:0001583	missense			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367	10640	10640			10696	protein-coding gene	gene with protein product		604469	SEC10 (S. cerevisiae)-like 1, SEC10-like 1 (S. cerevisiae)	SEC10L1	NA	9119050	Standard	NM_006544	XM_005267272	NA	Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.955A>T	14.37:g.57698417T>A	ENSP00000389934:p.Ser319Cys	NA	B2R6C5	37	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.195041	0.78902	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.47177	0.85;0.85	5.62	5.62	0.85841	.	0.079098	0.85682	D	0.000000	T	0.49983	0.1589	L	0.34521	1.04	0.54753	D	0.999987	P;P	0.51791	0.948;0.927	P;P	0.51582	0.545;0.674	T	0.52434	-0.8576	10	0.62326	D	0.03	-7.6021	16.1251	0.81386	0.0:0.0:0.0:1.0	.	254;319	F8W9B8;O00471	.;EXOC5_HUMAN	C	319;254	ENSP00000389934:S319C;ENSP00000342100:S254C	ENSP00000342100:S254C	S	-	1	0	EXOC5	56768170	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.411000	0.66386	2.267000	0.75376	0.477000	0.44152	AGC	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412905.1		-	ENST00000413566.2	Missense_Mutation	SNP	14 : 57698417 - 57698417 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	236	80
FAM126A	84668	broad.mit.edu	37	7	23000935	23000935	+	Silent	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:23000935A>G	ENST00000432176.2	-	9	982	c.750T>C	c.(748-750)aaT>aaC	p.N250N	FAM126A_ENST00000409923.1_Silent_p.N250N|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	250						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCCATTCTCCATTATAACTAT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	60	58			NA	NA	7		NA											NA				23000935		2203	4299	6502	SO:0001819	synonymous_variant			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591	84668	84668			24587	protein-coding gene	gene with protein product	down regulated by Ctnnb1, a	610531			NA	10910037, 16951682	Standard	NM_032581	NM_032581	NA	Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.750T>C	7.37:g.23000935A>G		NA	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	37	CCDS5377.1	.	.	.	.	.	.	.	.	.	.	A	7.238	0.600710	0.13939	.	.	ENSG00000122591	ENST00000440481	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.71239	0.3316	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70722	-0.4794	4	.	.	.	-20.4149	15.2237	0.73333	1.0:0.0:0.0:0.0	.	.	.	.	T	302	.	.	M	-	2	0	FAM126A	22967460	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.815000	0.55651	2.008000	0.58898	0.528000	0.53228	ATG	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250230.1		-	ENST00000432176.2	Silent	SNP	7 : 23000935 - 23000935 G PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	715	54
FAM214A	56204	broad.mit.edu	37	15	52903953	52903953	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr15:52903953T>C	ENST00000261844.7	-	4	375	c.223A>G	c.(223-225)Agg>Ggg	p.R75G	FAM214A_ENST00000546305.2_Missense_Mutation_p.R82G	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	75											NA						ACCTCAGACCTAGTTCGTCTG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	91	93			NA	NA	15		NA											NA				52903953		1919	4133	6052	SO:0001583	missense			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346	56204	56204			25609	protein-coding gene	gene with protein product			KIAA1370	KIAA1370	NA	10718198	Standard	NM_019600	XM_005254547	NA	Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.223A>G	15.37:g.52903953T>C	ENSP00000261844:p.Arg75Gly	NA	A8KA52|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.991452	0.74703	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.37058	1.22;1.22	6.16	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	L	0.50333	1.59	0.40786	D	0.983212	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.56498	-0.7969	10	0.72032	D	0.01	.	12.7623	0.57372	0.0:0.0:0.2583:0.7417	.	82;75	F5H8G0;Q32MH5	.;K1370_HUMAN	G	75;75;74;82	ENSP00000261844:R75G;ENSP00000443598:R82G	ENSP00000261844:R75G	R	-	1	2	KIAA1370	50691245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.285000	0.51716	1.117000	0.41842	0.528000	0.53228	AGG	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419914.1		-	ENST00000261844.7	Missense_Mutation	SNP	15 : 52903953 - 52903953 C PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	208	29
HP	3240	broad.mit.edu	37	16	72094379	72094379	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:72094379G>A	ENST00000357763.4	+	8	946	c.919G>A	c.(919-921)Gat>Aat	p.D307N	HP_ENST00000565574.1_Missense_Mutation_p.D212N|HPR_ENST00000356967.5_Intron|HP_ENST00000355906.5_Missense_Mutation_p.D271N|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Missense_Mutation_p.D212N|HP_ENST00000570083.1_Missense_Mutation_p.D212N			P00738	HPT_HUMAN	haptoglobin	0	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACCTTCAAAGGATTATGCAGA	0.458		NA											g	0	0	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	1e-04	0.0499	LOWCOV	NA	NA	7e-04	SNP								NA				0													98	97	98			NA	NA	16		NA											NA				72094379		1933	4151	6084	SO:0001583	missense				CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017	3240	3240			5141	protein-coding gene	gene with protein product		140100			NA	11109501, 9352226	Standard	NM_005143	NM_005143	NA	Approved		uc002fbr.4	P00738		ENST00000357763.4:c.919G>A	16.37:g.72094379G>A	ENSP00000350406:p.Asp307Asn	NA	B0AZL5|P00737|Q0VAC4|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	37		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	12.22	1.872195	0.33069	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.88741	-2.42;-2.42	5.12	3.18	0.36537	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.058620	0.64402	N	0.000005	D	0.82577	0.5067	L	0.33245	0.995	0.80722	D	1	B;B;B;B	0.26120	0.006;0.142;0.035;0.013	B;B;B;B	0.28784	0.02;0.094;0.053;0.065	T	0.77765	-0.2465	10	0.49607	T	0.09	.	10.5318	0.44981	0.1575:0.0:0.8425:0.0	.	93;146;212;271	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	N	271;212;146;247	ENSP00000348170:D271N;ENSP00000381199:D212N	ENSP00000348170:D271N	D	+	1	0	HP	70651880	1.000000	0.71417	0.313000	0.25210	0.827000	0.46813	3.043000	0.49823	0.768000	0.33290	-0.124000	0.14976	GAT	HP-012	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000421688.3		+	ENST00000357763.4	Missense_Mutation	SNP	16 : 72094379 - 72094379 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	280	24
IFT81	28981	broad.mit.edu	37	12	110655943	110655943	+	Missense_Mutation	SNP	G	G	A	rs150790899	by1000genomes	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:110655943G>A	ENST00000242591.5	+	19	2449	c.1943G>A	c.(1942-1944)tGt>tAt	p.C648Y	IFT81_ENST00000552912.1_Missense_Mutation_p.C648Y	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	648					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TTAATGGAATGTAAGAAACAG	0.388		NA												1	5e-04	NA	NA	2184	0.0017	0.9996	,	,	NA	2e-04	NA	NA	NA	6e-04	0.8284	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0													153	143	147			NA	NA	12		NA											NA				110655943		1878	4108	5986	SO:0001583	missense			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970	28981	28981		Intraflagellar transport homologs	14313	protein-coding gene	gene with protein product		605489	carnitine deficiency-associated, expressed in ventricle 1, intraflagellar transport 81 homolog (Chlamydomonas)	CDV1	NA	11130971	Standard	NM_014055	NM_014055	NA	Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1943G>A	12.37:g.110655943G>A	ENSP00000242591:p.Cys648Tyr	NA	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	37	CCDS41831.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	19.76	3.888341	0.72524	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.22	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	M	0.78916	2.43	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.80821	-0.1211	9	0.59425	D	0.04	-8.5873	14.297	0.66321	0.0724:0.0:0.9276:0.0	.	648	Q8WYA0	IFT81_HUMAN	Y	648;648;79	.	ENSP00000242591:C648Y	C	+	2	0	IFT81	109140326	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.301000	0.96167	1.338000	0.45544	0.579000	0.79373	TGT	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403529.1		+	ENST00000242591.5	Missense_Mutation	SNP	12 : 110655943 - 110655943 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	434	168
IL34	146433	broad.mit.edu	37	16	70688501	70688501	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:70688501C>T	ENST00000569641.1	+	2	413				IL34_ENST00000429149.2_Missense_Mutation_p.T30M|IL34_ENST00000566361.1_Missense_Mutation_p.T5M|IL34_ENST00000288098.2_Missense_Mutation_p.T30M			Q6ZMJ4	IL34_HUMAN	interleukin 34	NA					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TGGCCCTTGACGCAGAATGAG	0.572		NA									OREG0023916	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													328	229	263			NA	NA	16		NA											NA				70688501		2198	4300	6498	SO:0001627	intron_variant			BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368	146433	146433		Interleukins and interleukin receptors	28529	protein-coding gene	gene with protein product		612081	chromosome 16 open reading frame 77	C16orf77	NA	18467591	Standard	NM_152456	NM_152456	NA	Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000569641.1:c.414-2004C>T	16.37:g.70688501C>T		1124	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	37		.	.	.	.	.	.	.	.	.	.	C	11.00	1.509704	0.27036	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.49432	0.78;0.78	4.32	3.32	0.38043	.	0.568429	0.15866	N	0.240758	T	0.61515	0.2353	M	0.70595	2.14	0.09310	N	1	D;D	0.89917	1.0;1.0	P;P	0.60886	0.88;0.88	T	0.51434	-0.8706	10	0.66056	D	0.02	-11.2702	10.7643	0.46283	0.1886:0.8114:0.0:0.0	.	30;30	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	M	30	ENSP00000397863:T30M;ENSP00000288098:T30M	ENSP00000288098:T30M	T	+	2	0	IL34	69246002	0.002000	0.14202	0.051000	0.19133	0.015000	0.08874	1.190000	0.32126	2.258000	0.74832	0.456000	0.33151	ACG	IL34-004	PUTATIVE	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000434925.1		+	ENST00000569641.1	Intron	SNP	16 : 70688501 - 70688501 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	414	44
JARID2	3720	broad.mit.edu	37	6	15497190	15497190	+	Silent	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:15497190C>T	ENST00000341776.2	+	7	1978	c.1734C>T	c.(1732-1734)cgC>cgT	p.R578R	JARID2_ENST00000397311.3_Silent_p.R406R|JARID2_ENST00000541660.1_Silent_p.R540R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	578	JmjN.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTCGGTCCGCGCTCAGGTGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	54	56			NA	NA	6		NA											NA				15497190		2203	4300	6503	SO:0001819	synonymous_variant			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083	3720	3720			6196	protein-coding gene	gene with protein product		601594	jumonji (mouse) homolog, Jumonji, AT rich interactive domain 2	JMJ	NA	8894700	Standard	NM_004973	NM_001267040	NA	Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1734C>T	6.37:g.15497190C>T		NA	A8K9Z6|B7Z5S5|Q5U5L5|Q86X63	37	CCDS4533.1																																																																																			JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039926.1		+	ENST00000341776.2	Silent	SNP	6 : 15497190 - 15497190 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	121	26
KCNH1	3756	broad.mit.edu	37	1	210856924	210856924	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:210856924C>T	ENST00000367007.4	-	11	2757	c.2588G>A	c.(2587-2589)cGc>cAc	p.R863H	KCNH1_ENST00000271751.4_Missense_Mutation_p.R890H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	890					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTTGTCCAGGCGCAAGTCGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	1		NA											NA				210856924		2203	4300	6503	SO:0001583	missense			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473	3756	3756		Potassium channels, Voltage-gated ion channels / Potassium channels	6250	protein-coding gene	gene with protein product		603305			NA	9738473, 16382104	Standard	NM_002238	NM_172362	NA	Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000367007.4:c.2588G>A	1.37:g.210856924C>T	ENSP00000355974:p.Arg863His	NA	B1AQ26|O76035	37	CCDS31015.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870929	0.72065	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99537	-6.03;-6.11	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.71184	0.858;0.972	D	0.98847	1.0757	10	0.56958	D	0.05	.	18.1618	0.89710	0.0:1.0:0.0:0.0	.	863;890	Q14CL3;O95259	.;KCNH1_HUMAN	H	890;863	ENSP00000271751:R890H;ENSP00000355974:R863H	ENSP00000271751:R890H	R	-	2	0	KCNH1	208923547	1.000000	0.71417	0.907000	0.35723	0.337000	0.28794	7.538000	0.82048	2.290000	0.77057	0.561000	0.74099	CGC	KCNH1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088568.1		-	ENST00000367007.4	Missense_Mutation	SNP	1 : 210856924 - 210856924 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	292	12
KIF4B	285643	broad.mit.edu	37	5	154394186	154394186	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:154394186G>A	ENST00000435029.4	+	1	927	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	256	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAGGGGATCGTCTAAAAGAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	126	126			NA	NA	5		NA											NA				154394186		2203	4300	6503	SO:0001583	missense			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650	285643	285643		Kinesins	6322	protein-coding gene	gene with protein product		609184			NA		Standard		NM_001099293	NA	Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.767G>A	5.37:g.154394186G>A	ENSP00000387875:p.Arg256His	NA		37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	15.48	2.846628	0.51164	.	.	ENSG00000226650	ENST00000435029	T	0.75704	-0.96	1.73	-0.196	0.13232	Kinesin, motor domain (4);	.	.	.	.	D	0.85796	0.5780	M	0.92880	3.355	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.82358	-0.0497	9	0.87932	D	0	.	5.6824	0.17784	0.3387:0.0:0.6613:0.0	.	256	Q2VIQ3	KIF4B_HUMAN	H	256	ENSP00000387875:R256H	ENSP00000387875:R256H	R	+	2	0	KIF4B	154374379	0.928000	0.31464	0.987000	0.45799	0.991000	0.79684	3.002000	0.49496	-0.068000	0.12953	-0.137000	0.14449	CGT	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377478.1		+	ENST00000435029.4	Missense_Mutation	SNP	5 : 154394186 - 154394186 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	374	182
KLHL5	51088	broad.mit.edu	37	4	39083623	39083623	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:39083623A>T	ENST00000261426.5	+	3	774	c.699A>T	c.(697-699)ttA>ttT	p.L233F	KLHL5_ENST00000261425.3_Missense_Mutation_p.L248F|KLHL5_ENST00000359687.2_Missense_Mutation_p.L294F|KLHL5_ENST00000508137.2_Missense_Mutation_p.L107F|KLHL5_ENST00000504108.1_Missense_Mutation_p.L294F|KLHL5_ENST00000381930.3_Missense_Mutation_p.L294F	NM_199039.3	NP_950240.2	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	294	BTB.					cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGTGCCTGTTATCTACAGCTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	111	114			NA	NA	4		NA											NA				39083623		2203	4300	6503	SO:0001583	missense			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790	51088	51088		Kelch-like, BTB/POZ domain containing	6356	protein-coding gene	gene with protein product		608064	kelch (Drosophila)-like 5, kelch-like 5 (Drosophila)		NA	11590829, 14672410	Standard		NM_001007075	NA	Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000261426.5:c.699A>T	4.37:g.39083623A>T	ENSP00000261426:p.Leu233Phe	NA	A8K170|B7WP68|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	37	CCDS3449.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046001	0.75846	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.45	-3.8	0.04307	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86961	0.6059	M	0.80616	2.505	0.58432	D	0.999998	D;D;D	0.89917	0.985;1.0;1.0	P;D;D	0.87578	0.868;0.998;0.996	D	0.85649	0.1281	10	0.87932	D	0	.	12.1229	0.53902	0.267:0.1183:0.6147:0.0	.	233;294;294	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	F	328;248;107;294;294;294;233	ENSP00000261425:L248F;ENSP00000423080:L107F;ENSP00000423897:L294F;ENSP00000352716:L294F;ENSP00000371355:L294F;ENSP00000261426:L233F	ENSP00000261425:L248F	L	+	3	2	KLHL5	38760018	0.997000	0.39634	0.918000	0.36340	0.982000	0.71751	0.453000	0.21811	-0.821000	0.04312	-0.561000	0.04177	TTA	KLHL5-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215089.1		+	ENST00000261426.5	Missense_Mutation	SNP	4 : 39083623 - 39083623 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	419	10
KMT2B	9757	broad.mit.edu	37	19	36219013	36219013	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:36219013G>A	ENST00000420124.1	+	19	4512	c.4512G>A	c.(4510-4512)gcG>gcA	p.A1504A	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Silent_p.A1504A					lysine (K)-specific methyltransferase 2B	NA											NA						TAGAATCTGCGTTCGGCTGGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3912		0,0,1956	17	17	17		4512	-1.5	1	19		17	1,8295		0,1,4147	no	coding-synonymous	MLL4	NM_014727.1		0,1,6103	AA,AG,GG	NA	0.0121,0.0,0.0082		1504/2716	36219013	1,12207	1956	4148	6104	SO:0001819	synonymous_variant			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333	9757	9757		Chromatin-modifying enzymes / K-methyltransferases	15840	protein-coding gene	gene with protein product	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4	606834			NA	10409430, 10637508	Standard	NM_014727	XM_006723513	NA	Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000420124.1:c.4512G>A	19.37:g.36219013G>A		NA		37																																																																																				KMT2B-203	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding			+	ENST00000420124.1	Silent	SNP	19 : 36219013 - 36219013 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	49	5
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	107	41
LPPR4	0	broad.mit.edu	37	1	99762345	99762345	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:99762345G>C	ENST00000370185.3	+	3	957	c.460G>C	c.(460-462)Ggg>Cgg	p.G154R	LPPR4_ENST00000457765.1_Missense_Mutation_p.G154R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		154							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAGAAGAAATGGGGTCGGACT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	102	100			NA	NA	1		NA											NA				99762345		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000370185.3:c.460G>C	1.37:g.99762345G>C	ENSP00000359204:p.Gly154Arg	NA	O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279059	0.40294	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	T;T	0.14640	2.49;2.49	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	L	0.38175	1.15	0.80722	D	1	D;B	0.69078	0.997;0.004	D;B	0.67103	0.949;0.006	T	0.03025	-1.1081	10	0.21540	T	0.41	-25.1467	19.5717	0.95423	0.0:0.0:1.0:0.0	.	154;154	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	154	ENSP00000359204:G154R;ENSP00000394913:G154R	ENSP00000263178:G154R	G	+	1	0	RP4-788L13.1	99534933	1.000000	0.71417	0.996000	0.52242	0.738000	0.42128	6.651000	0.74372	2.644000	0.89710	0.655000	0.94253	GGG	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029670.2		+	ENST00000370185.3	Missense_Mutation	SNP	1 : 99762345 - 99762345 C PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	555	181
LRIT3	345193	broad.mit.edu	37	4	110791281	110791281	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:110791281G>A	ENST00000327908.3	+	4	1591	c.827G>A	c.(826-828)aGt>aAt	p.S276N	LRIT3_ENST00000594814.1_Missense_Mutation_p.S459N|LRIT3_ENST00000409621.2_Missense_Mutation_p.S276N|LRIT3_ENST00000379920.3_Missense_Mutation_p.S414N			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	414	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AAGAATGGAAGTAAGCTTCCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	70	69			NA	NA	4		NA											NA				110791281		2203	4300	6503	SO:0001583	missense			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423	345193	345193		Immunoglobulin superfamily / I-set domain containing	24783	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 4	615004			NA		Standard	NM_198506	NM_198506	NA	Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000327908.3:c.827G>A	4.37:g.110791281G>A	ENSP00000328222:p.Ser276Asn	NA	C9J1C2|Q6ZTG1	37		.	.	.	.	.	.	.	.	.	.	G	0.339	-0.951342	0.02285	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.58358	0.34;0.52;0.34	5.06	0.19	0.15125	.	0.885835	0.09711	N	0.765695	T	0.31009	0.0783	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.001;0.008	B;B	0.12156	0.001;0.007	T	0.22836	-1.0205	10	0.13470	T	0.59	.	4.3391	0.11101	0.4444:0.1716:0.384:0.0	.	414;276	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	N	276;414;276	ENSP00000328222:S276N;ENSP00000369252:S414N;ENSP00000386734:S276N	ENSP00000328222:S276N	S	+	2	0	LRIT3	111010730	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.091000	0.15046	0.160000	0.19432	-0.123000	0.14984	AGT	LRIT3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000255064.1		+	ENST00000327908.3	Missense_Mutation	SNP	4 : 110791281 - 110791281 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	252	10
LUZP1	7798	broad.mit.edu	37	1	23420022	23420022	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:23420022C>G	ENST00000302291.4	-	4	1534	c.733G>C	c.(733-735)Ggc>Cgc	p.G245R	LUZP1_ENST00000374623.3_Missense_Mutation_p.G245R|LUZP1_ENST00000314174.5_Missense_Mutation_p.G245R|LUZP1_ENST00000418342.1_Missense_Mutation_p.G245R			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	245						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GAAGAGATGCCATCCTCAATC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	122	126			NA	NA	1		NA											NA				23420022		2203	4300	6503	SO:0001583	missense			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641	7798	7798			14985	protein-coding gene	gene with protein product		601422			NA	8812416	Standard	NM_033631	NM_033631	NA	Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.733G>C	1.37:g.23420022C>G	ENSP00000303758:p.Gly245Arg	NA	Q5TH93|Q8N4X3|Q8TEH1	37	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291930	0.59976	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849	T;T;T;T;T	0.43294	2.75;2.75;2.75;2.53;0.95	6.17	6.17	0.99709	.	0.000000	0.49305	D	0.000143	T	0.55289	0.1911	L	0.46157	1.445	0.40391	D	0.979547	D;D	0.71674	0.998;0.998	D;D	0.69142	0.962;0.962	T	0.50947	-0.8767	10	0.41790	T	0.15	.	13.0796	0.59107	0.0:0.9277:0.0:0.0723	.	245;245	Q86V48-2;Q86V48	.;LUZP1_HUMAN	R	245	ENSP00000393460:G245R;ENSP00000363752:G245R;ENSP00000303758:G245R;ENSP00000313705:G245R;ENSP00000428061:G245R	ENSP00000303758:G245R	G	-	1	0	LUZP1	23292609	1.000000	0.71417	0.666000	0.29783	0.800000	0.45204	5.782000	0.68973	2.941000	0.99782	0.655000	0.94253	GGC	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008900.3		-	ENST00000302291.4	Missense_Mutation	SNP	1 : 23420022 - 23420022 G PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	432	129
MEFV	4210	broad.mit.edu	37	16	3293394	3293394	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:3293394T>C	ENST00000339854.4	-	10	1592	c.1553A>G	c.(1552-1554)gAg>gGg	p.E518G	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.E487G|MEFV_ENST00000219596.1_Missense_Mutation_p.E698G			O15553	MEFV_HUMAN	Mediterranean fever	698					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CGCCTGGTACTCATTTTCCTT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	115	119			NA	NA	16		NA											NA				3293394		2197	4300	6497	SO:0001583	missense			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313	4210	4210		Tripartite motif containing / Tripartite motif containing	6998	protein-coding gene	gene with protein product	pyrin	608107		MEF	NA	9288094	Standard	NM_000243	NM_000243	NA	Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000339854.4:c.1553A>G	16.37:g.3293394T>C	ENSP00000339639:p.Glu518Gly	NA	D3DUC0|Q3MJ84|Q96PN4|Q96PN5	37		.	.	.	.	.	.	.	.	.	.	T	13.37	2.217269	0.39201	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.61040	0.14;0.14;0.14	5.32	4.23	0.50019	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.135230	0.33691	N	0.004653	T	0.62332	0.2419	L	0.35542	1.07	0.09310	N	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.52616	-0.8552	10	0.41790	T	0.15	-17.3674	9.3257	0.37990	0.0:0.0855:0.0:0.9145	.	698	O15553	MEFV_HUMAN	G	698;518;487	ENSP00000219596:E698G;ENSP00000339639:E518G;ENSP00000445079:E487G	ENSP00000219596:E698G	E	-	2	0	MEFV	3233395	0.118000	0.22208	0.061000	0.19648	0.659000	0.38960	2.161000	0.42358	0.979000	0.38497	0.528000	0.53228	GAG	MEFV-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398510.1		-	ENST00000339854.4	Missense_Mutation	SNP	16 : 3293394 - 3293394 C PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	695	219
MOV10L1	54456	broad.mit.edu	37	22	50589311	50589311	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr22:50589311G>A	ENST00000262794.5	+	21	2958	c.2875G>A	c.(2875-2877)Gca>Aca	p.A959T	MOV10L1_ENST00000545383.1_Missense_Mutation_p.A959T|MOV10L1_ENST00000395852.1_Missense_Mutation_p.A86T|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A959T|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A939T|MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000354853.2_Intron	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	959					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGCTTGTGGCGCACATAATCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	129	106	113		2875,2815,256,2875	2	0.3	22		113	1,8599		0,1,4299	no	missense,missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_001164106.1,NM_018995.2	58,58,58,58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	959/1166,939/1166,86/339,959/1212	50589311	1,13005	2203	4300	6503	SO:0001583	missense			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146	54456	54456			7201	protein-coding gene	gene with protein product	cardiac helicase activated by MEF2C protein	605794	Mov10 (mouse)-like 1, Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)		NA	11279525	Standard	NM_018995	NM_018995	NA	Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2875G>A	22.37:g.50589311G>A	ENSP00000262794:p.Ala959Thr	NA	B7WPP1|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	9.423	1.083604	0.20309	0.0	1.16E-4	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000395852	D;D;T;D;D	0.92752	-1.86;-1.86;-1.44;-2.06;-3.1	5.47	2.05	0.26809	.	0.372221	0.26106	N	0.026316	D	0.84906	0.5576	L	0.27053	0.805	0.21220	N	0.999751	P;B;P;P	0.46987	0.863;0.019;0.587;0.888	B;B;B;P	0.44561	0.324;0.016;0.181;0.453	T	0.76099	-0.3083	10	0.33141	T	0.24	-14.1676	6.3649	0.21449	0.1608:0.0:0.4837:0.3554	.	939;86;959;959	F5H403;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	T	959;959;959;939;86	ENSP00000438978:A959T;ENSP00000262794:A959T;ENSP00000379199:A959T;ENSP00000438542:A939T;ENSP00000379193:A86T	ENSP00000262794:A959T	A	+	1	0	MOV10L1	48931438	0.899000	0.30636	0.334000	0.25495	0.053000	0.15095	1.890000	0.39728	0.670000	0.31165	-0.136000	0.14681	GCA	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075009.2		+	ENST00000262794.5	Missense_Mutation	SNP	22 : 50589311 - 50589311 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	102	40
MST1	4485	broad.mit.edu	37	3	49723522	49723522	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr3:49723522G>A	ENST00000449682.2	-	9	1481	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	360	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R360C(2)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTACAACGCCGGATCTGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(110;181 1524 8005 22865 46297)							NA				2	Substitution - Missense(2)	lung(1)|central_nervous_system(1)											12	14	13			NA	NA	3		NA											NA				49723522		2191	4284	6475	SO:0001583	missense			M74178	CCDS33757.2	3p21	2008-09-05			ENSG00000173531	ENSG00000173531	4485	4485			7380	protein-coding gene	gene with protein product	hepatocyte growth factor-like protein homolog	142408		D3F15S2, HGFL, DNF15S2	NA	2902784, 8393443	Standard	NM_020998	NM_020998	NA	Approved	MSP, NF15S2	uc003cxg.3	P26927	OTTHUMG00000155918	ENST00000449682.2:c.1120C>T	3.37:g.49723522G>A	ENSP00000414287:p.Arg374Cys	NA	A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4	37	CCDS33757.2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037157	0.93630	.	.	ENSG00000173531	ENST00000449682	T	0.68181	-0.31	5.4	4.52	0.55395	.	0.000000	0.42682	D	0.000669	D	0.83078	0.5176	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.83214	-0.0072	10	0.32370	T	0.25	.	13.2202	0.59883	0.0778:0.0:0.9222:0.0	.	374	G3XAK1	.	C	374	ENSP00000414287:R374C	ENSP00000414287:R374C	R	-	1	0	MST1	49698526	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.008000	0.88588	2.526000	0.85167	0.655000	0.94253	CGT	MST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342315.3		-	ENST00000449682.2	Missense_Mutation	SNP	3 : 49723522 - 49723522 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	143	9
MTO1	25821	broad.mit.edu	37	6	74210401	74210401	+	Silent	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:74210401A>G	ENST00000498286.1	+	12	2299	c.2022A>G	c.(2020-2022)tcA>tcG	p.S674S	MTO1_ENST00000370300.4_Silent_p.S699S|MTO1_ENST00000370305.1_Silent_p.S625S|MTO1_ENST00000415954.2_Silent_p.S714S			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	699					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGAATGAATCATCCAAGACTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	87			NA	NA	6		NA											NA				74210401		2203	4300	6503	SO:0001819	synonymous_variant			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297	25821	25821			19261	protein-coding gene	gene with protein product		614667	mitochondrial translation optimization 1 homolog (S. cerevisiae)		NA	12011058, 22608499	Standard	NM_012123	NM_012123	NA	Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000498286.1:c.2022A>G	6.37:g.74210401A>G		NA	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	37	CCDS34485.1																																																																																			MTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041213.3		+	ENST00000498286.1	Silent	SNP	6 : 74210401 - 74210401 G PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	323	7
MYO1F	4542	broad.mit.edu	37	19	8609328	8609328	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:8609328G>A	ENST00000338257.8	-	14	1644	c.1377C>T	c.(1375-1377)agC>agT	p.S459S		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	459	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGTCCAAGACGCTCATGATGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	20	18			NA	NA	19		NA											NA				8609328		2052	4206	6258	SO:0001819	synonymous_variant			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347	4542	4542		Myosins / Myosin superfamily : Class I	7600	protein-coding gene	gene with protein product		601480			NA	9119401, 8884266	Standard		NM_012335	NA	Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1377C>T	19.37:g.8609328G>A		NA	Q8WWN7	37	CCDS42494.1																																																																																			MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342716.2		-	ENST00000338257.8	Silent	SNP	19 : 8609328 - 8609328 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	143	25
NCKAP5	344148	broad.mit.edu	37	2	133542913	133542913	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:133542913C>A	ENST00000409261.1	-	14	1844	c.1471G>T	c.(1471-1473)Gtt>Ttt	p.V491F	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V491F|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	491							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGTTTGGAACTGCTTGGAGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	119	118			NA	NA	2		NA											NA				133542913		2017	4198	6215	SO:0001583	missense			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771	344148	344148			29847	protein-coding gene	gene with protein product	Nck associated protein 5, peripheral clock protein	608789			NA	9344857	Standard	NM_207481	NM_207363	NA	Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1471G>T	2.37:g.133542913C>A	ENSP00000387128:p.Val491Phe	NA	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	2.579	-0.297922	0.05532	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.12039	2.72;2.72	5.11	-3.94	0.04130	.	1.465370	0.05533	U	0.564360	T	0.07593	0.0191	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.16289	0.015	T	0.40040	-0.9584	10	0.66056	D	0.02	.	2.5501	0.04747	0.1056:0.2809:0.3501:0.2633	.	491	O14513	NCKP5_HUMAN	F	491	ENSP00000387128:V491F;ENSP00000380603:V491F	ENSP00000380603:V491F	V	-	1	0	NCKAP5	133259383	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.038000	0.12144	-0.609000	0.05724	-0.162000	0.13425	GTT	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331663.1		-	ENST00000409261.1	Missense_Mutation	SNP	2 : 133542913 - 133542913 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	471	14
NFASC	23114	broad.mit.edu	37	1	204957892	204957892	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:204957892G>A	ENST00000401399.1	+	22	2924	c.2725G>A	c.(2725-2727)Ggg>Agg	p.G909R	NFASC_ENST00000404907.1_Missense_Mutation_p.G1012R|NFASC_ENST00000367170.4_Missense_Mutation_p.G1016R|NFASC_ENST00000339876.6_Missense_Mutation_p.G909R|NFASC_ENST00000367169.4_Missense_Mutation_p.G909R|NFASC_ENST00000338515.6_Missense_Mutation_p.G1016R|NFASC_ENST00000367172.4_Missense_Mutation_p.G1016R|NFASC_ENST00000539706.1_Missense_Mutation_p.G1012R|NFASC_ENST00000338586.6_Missense_Mutation_p.G1016R|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_Missense_Mutation_p.G1012R|NFASC_ENST00000367171.4_Missense_Mutation_p.G1001R|NFASC_ENST00000404076.1_Missense_Mutation_p.G995R|NFASC_ENST00000513543.1_Missense_Mutation_p.G1012R			O94856	NFASC_HUMAN	neurofascin	917	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGTGGGCTCTGGGGAAGCCGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	73	74			NA	NA	1		NA											NA				204957892		2203	4300	6503	SO:0001583	missense			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531	23114	23114		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	29866	protein-coding gene	gene with protein product		609145	neurofascin homolog (chicken)		NA	1377696, 8672144	Standard	NM_001005388	NM_015090	NA	Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2725G>A	1.37:g.204957892G>A	ENSP00000385637:p.Gly909Arg	NA	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.612808|5.612808	0.96637|0.96637	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000413225	T;T;T;T;D;T;T;T;D;T;D;T;T;T|.	0.91996|.	-0.05;-0.05;-0.05;-0.05;-2.95;-0.05;-0.05;-0.05;-2.95;-0.05;-2.95;-0.05;-0.05;-0.05|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.49916|.	D|.	0.000140|.	D|.	0.86732|.	0.6003|.	M|M	0.92970|0.92970	3.365|3.365	0.38365|0.38365	D|D	0.944703|0.944703	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.995;1.0;0.998;1.0;1.0;0.999;0.999|.	D|.	0.90619|.	0.4558|.	10|.	0.87932|.	D|.	0|.	.|.	19.1402|19.1402	0.93444|0.93444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1016;1027;1012;1016;1016;909;1001;909;1012|.	O94856;O94856-11;O94856-8;O94856-7;F8W8X7;O94856-4;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.;.;.;.|.	R|X	1016;1001;1016;1016;909;1016;1027;1012;1012;909;995;909;1012;1012;1003|34	ENSP00000356140:G1016R;ENSP00000356139:G1001R;ENSP00000356138:G1016R;ENSP00000342128:G1016R;ENSP00000344786:G909R;ENSP00000343509:G1016R;ENSP00000438614:G1012R;ENSP00000353154:G1012R;ENSP00000356137:G909R;ENSP00000385676:G995R;ENSP00000385637:G909R;ENSP00000384061:G1012R;ENSP00000425908:G1012R;ENSP00000415031:G1003R|.	ENSP00000295776:G1027R|.	G|W	+|+	1|2	0|0	NFASC|NFASC	203224515|203224515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.413000|9.413000	0.97351|0.97351	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	GGG|TGG	NFASC-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131237.1		+	ENST00000401399.1	Missense_Mutation	SNP	1 : 204957892 - 204957892 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	451	9
OR2A14	135941	broad.mit.edu	37	7	143826995	143826995	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:143826995C>T	ENST00000408899.2	+	1	845	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCCCAAGTCCCGCCATCCTGA	0.542		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	7		NA											NA				143826995		1981	4170	6151	SO:0001583	missense				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938	135941	135941		GPCR / Class A : Olfactory receptors	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6	NA		Standard		NM_001001659	NA	Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.790C>T	7.37:g.143826995C>T	ENSP00000386137:p.Arg264Cys	NA	Q6IF41|Q8NGT8	37	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	C	4.537	0.099753	0.08681	.	.	ENSG00000221938	ENST00000408899	T	0.00130	8.69	4.18	-5.49	0.02584	GPCR, rhodopsin-like superfamily (1);	2.119410	0.03153	U	0.168207	T	0.00144	0.0004	L	0.35414	1.06	0.09310	N	1	B	0.19817	0.039	B	0.21546	0.035	T	0.33904	-0.9850	10	0.72032	D	0.01	0.4492	11.4184	0.49967	0.7699:0.1508:0.0:0.0792	.	264	Q96R47	O2A14_HUMAN	C	264	ENSP00000386137:R264C	ENSP00000386137:R264C	R	+	1	0	OR2A14	143457928	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.560000	0.00921	-0.882000	0.03987	-0.310000	0.09108	CGC	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349980.1		+	ENST00000408899.2	Missense_Mutation	SNP	7 : 143826995 - 143826995 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	630	157
OR8U1	219417	broad.mit.edu	37	11	56143815	56143815	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:56143815C>T	ENST00000302270.1	+	1	716	c.716C>T	c.(715-717)tCg>tTg	p.S239L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1	NA										NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					AAGGCTTTCTCGACGTGTGGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	123	123			NA	NA	11		NA											NA				56143815		2060	4238	6298	SO:0001583	missense			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199	219417	219417		GPCR / Class A : Olfactory receptors	19611	protein-coding gene	gene with protein product					NA		Standard	NM_001005204	NM_001005204	NA	Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.716C>T	11.37:g.56143815C>T	ENSP00000304188:p.Ser239Leu	NA		37	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082460	0.36758	.	.	ENSG00000172199	ENST00000302270	T	0.00305	8.18	5.69	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000211	T	0.00724	0.0024	H	0.98426	4.23	0.28861	N	0.895524	P	0.40970	0.734	B	0.43301	0.415	T	0.01130	-1.1442	10	0.87932	D	0	.	14.6443	0.68748	0.0:0.9301:0.0:0.0699	.	239	Q8NH10	OR8U1_HUMAN	L	239	ENSP00000304188:S239L	ENSP00000304188:S239L	S	+	2	0	OR8U1	55900391	0.001000	0.12720	0.988000	0.46212	0.001000	0.01503	1.166000	0.31834	1.425000	0.47237	-0.245000	0.11935	TCG	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391607.1		+	ENST00000302270.1	Missense_Mutation	SNP	11 : 56143815 - 56143815 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	570	161
PCDHGB7	56099	broad.mit.edu	37	5	140798705	140798705	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:140798705A>G	ENST00000398594.2	+	1	1279	c.1279A>G	c.(1279-1281)Agg>Ggg	p.R427G	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018927.3	NP_061750.1			protocadherin gamma subfamily B, 7	NA										central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCACAGACAGGGGCAAGCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	49	46			NA	NA	5		NA											NA				140798705		2137	4233	6370	SO:0001583	missense			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122	56099	56099		Cadherins / Protocadherins : Clustered	8714	other	protocadherin	cadherin ME6	606304			NA	10380929	Standard	NM_018927	NM_032101	NA	Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1279A>G	5.37:g.140798705A>G	ENSP00000381594:p.Arg427Gly	NA		37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	0.022	-1.406676	0.01155	.	.	ENSG00000254122	ENST00000398594	T	0.01665	4.7	5.48	2.98	0.34508	Cadherin (4);Cadherin-like (1);	0.246709	0.20343	U	0.094184	T	0.01092	0.0036	N	0.12611	0.24	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.20384	0.029;0.018	T	0.49504	-0.8933	10	0.19590	T	0.45	.	4.0845	0.09940	0.5796:0.2387:0.0668:0.1149	.	427;427	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	G	427	ENSP00000381594:R427G	ENSP00000381594:R427G	R	+	1	2	PCDHGB7	140778889	0.000000	0.05858	0.933000	0.37362	0.268000	0.26511	0.449000	0.21744	0.338000	0.23692	0.402000	0.26972	AGG	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376973.1		+	ENST00000398594.2	Missense_Mutation	SNP	5 : 140798705 - 140798705 G PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	173	5
PCSK2	5126	broad.mit.edu	37	20	17417442	17417442	+	Missense_Mutation	SNP	G	G	A	rs144151196		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr20:17417442G>A	ENST00000262545.2	+	8	1114	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PCSK2_ENST00000536609.1_Missense_Mutation_p.A232T|PCSK2_ENST00000377899.1_Missense_Mutation_p.A248T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	267	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATCTACAGCGCCAGCTGGGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	55	49	51		742,694,799	5.4	1	20	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PCSK2	NM_001201528.1,NM_001201529.1,NM_002594.3	58,58,58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	248/620,232/604,267/639	17417442	1,13005	2203	4300	6503	SO:0001583	missense			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851	5126	5126			8744	protein-coding gene	gene with protein product	neuroendocrine convertase 2, KEX2-like endoprotease 2	162151		NEC2	NA	1765368	Standard	NM_002594	NM_001201528	NA	Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.799G>A	20.37:g.17417442G>A	ENSP00000262545:p.Ala267Thr	NA	Q14927|Q9NQG3|Q9NUG1|Q9UJC6	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555701	0.96514	0.0	1.16E-4	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87729	-2.29;-2.29;-2.29	5.38	5.38	0.77491	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.955	D	0.95800	0.8832	10	0.87932	D	0	-30.2528	17.6879	0.88261	0.0:0.0:1.0:0.0	.	232;267	B4DFQ3;P16519	.;NEC2_HUMAN	T	248;267;232	ENSP00000367131:A248T;ENSP00000262545:A267T;ENSP00000437458:A232T	ENSP00000262545:A267T	A	+	1	0	PCSK2	17365442	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.413000	0.97351	2.519000	0.84933	0.655000	0.94253	GCC	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078120.2		+	ENST00000262545.2	Missense_Mutation	SNP	20 : 17417442 - 17417442 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	295	81
PGPEP1L	145814	broad.mit.edu	37	15	99512680	99512680	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr15:99512680G>A	ENST00000535714.1	-	4	988	c.183C>T	c.(181-183)gaC>gaT	p.D61D	PGPEP1L_ENST00000378919.6_Silent_p.D115D|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	115					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						AAAAGATCACGTCGACACCCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	120	120			NA	NA	15		NA											NA				99512680		2191	4294	6485	SO:0001819	synonymous_variant				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571	145814	145814			27080	protein-coding gene	gene with protein product					NA		Standard	NM_001102612.2	NM_001102612	NA	Approved		uc002bum.3	A6NFU8		ENST00000535714.1:c.183C>T	15.37:g.99512680G>A		NA		37	CCDS58400.1																																																																																			PGPEP1L-002	PUTATIVE	upstream_uORF|basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415702.1		-	ENST00000535714.1	Silent	SNP	15 : 99512680 - 99512680 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	585	90
PIWIL1	9271	broad.mit.edu	37	12	130827607	130827607	+	Missense_Mutation	SNP	C	C	T	rs144603967	by1000genomes	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:130827607C>T	ENST00000245255.3	+	3	423	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	51					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGGCCGTGGACGGCAGAGAGG	0.443		NA											C	2	9e-04	NA	NA	2184	0.0035	0.9999	,	,	NA	7e-04	NA	NA	NA	9e-04	0.9524	LOWCOV,EXOME	NA	NA	0.0015	SNP								NA				0													67	59	62			NA	NA	12		NA											NA				130827607		2203	4300	6503	SO:0001583	missense			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207	9271	9271		Argonaute/PIWI family	9007	protein-coding gene	gene with protein product		605571	piwi (Drosophila)-like 1, piwi-like 1 (Drosophila)		NA	9851978, 12906857	Standard		NM_004764	NA	Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.151C>T	12.37:g.130827607C>T	ENSP00000245255:p.Arg51Trp	NA	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	37	CCDS9268.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.69	3.194066	0.58017	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93	5.13	5.13	0.70059	.	0.197782	0.43579	D	0.000552	T	0.36110	0.0955	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.12426	-1.0548	10	0.72032	D	0.01	-12.2295	17.5036	0.87738	0.0:1.0:0.0:0.0	.	51;51	Q96J94;Q96J94-2	PIWL1_HUMAN;.	W	51	ENSP00000245255:R51W;ENSP00000442086:R51W;ENSP00000440677:R51W;ENSP00000439096:R51W;ENSP00000444353:R51W;ENSP00000438582:R51W	ENSP00000245255:R51W	R	+	1	2	PIWIL1	129393560	1.000000	0.71417	0.836000	0.33094	0.417000	0.31264	3.696000	0.54757	2.544000	0.85801	0.467000	0.42956	CGG	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399510.1		+	ENST00000245255.3	Missense_Mutation	SNP	12 : 130827607 - 130827607 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	228	76
PTPN5	84867	broad.mit.edu	37	11	18763931	18763931	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:18763931G>A	ENST00000396170.1	-	7	1771	c.507C>T	c.(505-507)atC>atT	p.I169I	PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Silent_p.I201I|PTPN5_ENST00000358540.2_Silent_p.I201I|PTPN5_ENST00000396168.1_Silent_p.I177I|PTPN5_ENST00000396167.2_Silent_p.I169I|PTPN5_ENST00000477854.1_Silent_p.I5I	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	201						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGTCATCCTCGATCTTCTCCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	75	73			NA	NA	11		NA											NA				18763931		2199	4293	6492	SO:0001819	synonymous_variant			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786	84867	84867		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9657	protein-coding gene	gene with protein product		176879			NA	1714595	Standard	NM_001039970	NM_001278236	NA	Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000396170.1:c.507C>T	11.37:g.18763931G>A		NA	D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	37	CCDS41626.1																																																																																			PTPN5-002	NOVEL	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259197.1		-	ENST00000396170.1	Silent	SNP	11 : 18763931 - 18763931 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	336	57
RYR1	6261	broad.mit.edu	37	19	38939147	38939147	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:38939147C>T	ENST00000355481.4	+	10	1084	c.953C>T	c.(952-954)tCc>tTc	p.S318F	RYR1_ENST00000360985.3_Missense_Mutation_p.S318F|RYR1_ENST00000359596.3_Missense_Mutation_p.S318F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	318	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCCGCATCTCCAAGGTCAGT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	98	100			NA	NA	19		NA											NA				38939147		2203	4300	6503	SO:0001583	missense			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.953C>T	19.37:g.38939147C>T	ENSP00000347667:p.Ser318Phe	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080776	0.55753	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.85955	-2.05;-2.05;-2.05	4.51	4.51	0.55191	MIR motif (2);MIR (2);	0.090463	0.46145	U	0.000315	D	0.92315	0.7562	M	0.79926	2.475	0.43863	D	0.996461	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93476	0.6823	10	0.87932	D	0	.	16.1498	0.81605	0.0:1.0:0.0:0.0	.	318;318	P21817-2;P21817	.;RYR1_HUMAN	F	318	ENSP00000352608:S318F;ENSP00000347667:S318F;ENSP00000354254:S318F	ENSP00000347667:S318F	S	+	2	0	RYR1	43630987	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.239000	0.78182	2.348000	0.79779	0.491000	0.48974	TCC	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38939147 - 38939147 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	711	12
SF1	7536	broad.mit.edu	37	11	64533556	64533556	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:64533556C>T	ENST00000433274.2	-	13	1884	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000377390.3_Missense_Mutation_p.A552T|SF1_ENST00000422298.2_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.A552T|SF1_ENST00000227503.9_Intron	NM_001178031.1	NP_001171502.1	Q15637	SF01_HUMAN	splicing factor 1	552	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGAGAAGCTGCGGCAGCCGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	33	30			NA	NA	11		NA											NA				64533556		2147	4266	6413	SO:0001583	missense			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066	7536	7536		Zinc fingers, CCHC domain containing	12950	protein-coding gene	gene with protein product		601516	zinc finger protein 162	ZNF162	NA	7912130, 9573336	Standard	NM_004630	NM_201997	NA	Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000433274.2:c.1576G>A	11.37:g.64533556C>T	ENSP00000396793:p.Ala526Thr	NA	Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	37	CCDS53660.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.767095|1.767095	0.31320|0.31320	.|.	.|.	ENSG00000168066|ENSG00000168066	ENST00000377390;ENST00000334944;ENST00000433274|ENST00000486867	T;T;T|T	0.48836|0.54675	0.8;0.92;0.81|0.56	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	T|T	0.47637|0.47637	0.1456|0.1456	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	B;B|.	0.31611|.	0.223;0.331|.	B;B|.	0.25614|.	0.028;0.062|.	T|T	0.56092|0.56092	-0.8036|-0.8036	9|7	0.87932|0.87932	D|D	0|0	.|.	16.4457|16.4457	0.83928|0.83928	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	552;552|.	Q15637;Q15637-2|.	SF01_HUMAN;.|.	T|H	552;552;526|271	ENSP00000366607:A552T;ENSP00000334414:A552T;ENSP00000396793:A526T|ENSP00000419062:R271H	ENSP00000334414:A552T|ENSP00000419062:R271H	A|R	-|-	1|2	0|0	SF1|SF1	64290132|64290132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.087000|4.087000	0.57671|0.57671	2.488000|2.488000	0.83962|0.83962	0.561000|0.561000	0.74099|0.74099	GCA|CGC	SF1-016	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157360.4		-	ENST00000433274.2	Missense_Mutation	SNP	11 : 64533556 - 64533556 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	269	86
SIKE1	80143	broad.mit.edu	37	1	115318966	115318966	+	Splice_Site	SNP	C	C	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:115318966C>G	ENST00000369528.5	-	4	612		c.e4+1		SIKE1_ENST00000060969.5_Splice_Site	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	NA						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TACAATCTTACCTCTAATTGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	146	147			NA	NA	1		NA											NA				115318966		2203	4300	6503	SO:0001630	splice_region_variant			AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723	80143	80143			26119	protein-coding gene	gene with protein product	suppressor of IKK epsilon	611656			NA	16281057	Standard	NM_025073	NM_025073	NA	Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000369528.5:c.534+1G>C	1.37:g.115318966C>G		NA	Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	37	CCDS41371.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628525	0.87560	.	.	ENSG00000052723	ENST00000369528;ENST00000060969	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6101	0.95602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIKE1	115120489	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.217000	0.77982	2.717000	0.92951	0.585000	0.79938	.	SIKE1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033402.1	Intron	-	ENST00000369528.5	Splice_Site	SNP	1 : 115318966 - 115318966 G PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	510	21
SLC6A2	6530	broad.mit.edu	37	16	55733527	55733527	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:55733527G>T	ENST00000379906.2	+	11	1806	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	SLC6A2_ENST00000568943.1_Missense_Mutation_p.W517C|SLC6A2_ENST00000566163.1_Missense_Mutation_p.W472C|SLC6A2_ENST00000567238.1_Missense_Mutation_p.W412C|SLC6A2_ENST00000219833.8_Missense_Mutation_p.W517C|SLC6A2_ENST00000414754.3_Missense_Mutation_p.W517C|SLC6A2_ENST00000561820.1_Missense_Mutation_p.W517C	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	517					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTCTATACTGGAGACTGTGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	167	192			NA	NA	16		NA											NA				55733527		2198	4300	6498	SO:0001583	missense				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546	6530	6530		Solute carriers	11048	protein-coding gene	gene with protein product	norepinephrine transporter	163970	solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	NET1, NAT1, SLC6A5	NA	2008212	Standard		NM_001043	NA	Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1551G>T	16.37:g.55733527G>T	ENSP00000369237:p.Trp517Cys	NA	B2R707	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415365	0.83449	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.79033	-1.23;-1.23;-1.23	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.998	D	0.94353	0.7581	10	0.87932	D	0	.	18.2862	0.90114	0.0:0.0:1.0:0.0	.	517;231;412;517	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	C	517;231;517;517	ENSP00000394956:W517C;ENSP00000369237:W517C;ENSP00000219833:W517C	ENSP00000219833:W517C	W	+	3	0	SLC6A2	54291028	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.315000	0.96313	2.596000	0.87737	0.650000	0.86243	TGG	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256922.2		+	ENST00000379906.2	Missense_Mutation	SNP	16 : 55733527 - 55733527 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	279	43
SLC7A3	84889	broad.mit.edu	37	X	70149579	70149579	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:70149579C>T	ENST00000374299.3	-	2	413	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R90Q			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	90					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACGGGGAACCCGGGCACCAAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	69	78			NA	NA	X		NA											NA				70149579		2203	4300	6503	SO:0001583	missense			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349	84889	84889		Solute carriers	11061	protein-coding gene	gene with protein product		300443			NA	11591158	Standard	NM_032803	NM_001048164	NA	Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.269G>A	X.37:g.70149579C>T	ENSP00000363417:p.Arg90Gln	NA	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954560	0.92726	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89875	-2.58;-2.58	4.7	4.7	0.59300	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.94145	0.8122	M	0.87269	2.87	0.80722	D	1	D	0.62365	0.991	P	0.60012	0.867	D	0.95016	0.8156	10	0.62326	D	0.03	.	15.7504	0.77980	0.0:1.0:0.0:0.0	.	90	Q8WY07	CTR3_HUMAN	Q	90	ENSP00000363417:R90Q;ENSP00000298085:R90Q	ENSP00000298085:R90Q	R	-	2	0	SLC7A3	70066304	1.000000	0.71417	0.961000	0.40146	0.906000	0.53458	7.511000	0.81718	2.168000	0.68352	0.529000	0.55759	CGG	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057080.1		-	ENST00000374299.3	Missense_Mutation	SNP	X : 70149579 - 70149579 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	104	33
SLC9B2	133308	broad.mit.edu	37	4	103988646	103988646	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:103988646T>C	ENST00000503103.1	-	2	252	c.62A>G	c.(61-63)tAc>tGc	p.Y21C	SLC9B2_ENST00000339611.4_Missense_Mutation_p.Y21C|SLC9B2_ENST00000394785.3_Missense_Mutation_p.Y21C|SLC9B2_ENST00000362026.3_Missense_Mutation_p.Y21C|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.Y21C			Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	21					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				NA						GGAGGGCGTGTAATTCATTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													287	242	257			NA	NA	4		NA											NA				103988646		2203	4300	6503	SO:0001583	missense			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038	133308	133308		Solute carriers	25143	protein-coding gene	gene with protein product		611789	Na+/H+ exchanger domain containing 2, solute carrier family 9, subfamily B (cation proton antiporter 2), member 2	NHEDC2	NA	18600791	Standard	NM_178833	XM_005262758	NA	Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000503103.1:c.62A>G	4.37:g.103988646T>C	ENSP00000425385:p.Tyr21Cys	NA	B5ME52|Q6ZMD8|Q96D95	37		.	.	.	.	.	.	.	.	.	.	T	6.971	0.549224	0.13374	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	T;T;T;T;T	0.23147	1.97;1.95;1.97;1.92;1.96	3.67	-1.82	0.07857	.	1.272010	0.05438	N	0.547110	T	0.15955	0.0384	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28839	-1.0031	10	0.39692	T	0.17	14.0788	3.9267	0.09267	0.0:0.331:0.1927:0.4763	.	21;21;21	B7Z676;E9PE63;Q86UD5	.;.;SL9B2_HUMAN	C	21	ENSP00000354574:Y21C;ENSP00000345241:Y21C;ENSP00000378265:Y21C;ENSP00000425385:Y21C;ENSP00000422477:Y21C	ENSP00000345241:Y21C	Y	-	2	0	SLC9B2	104208095	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.139000	0.16036	-0.289000	0.09038	-0.250000	0.11733	TAC	SLC9B2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363236.1		-	ENST00000503103.1	Missense_Mutation	SNP	4 : 103988646 - 103988646 C PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	421	12
SPEN	23013	broad.mit.edu	37	1	16262018	16262018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:16262018C>T	ENST00000375759.3	+	11	9487	c.9283C>T	c.(9283-9285)Cag>Tag	p.Q3095*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3095					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCACCTCTCCCAGGGCGAGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	66	71			NA	NA	1		NA											NA				16262018		2203	4300	6503	SO:0001587	stop_gained				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526	23013	23013		RNA binding motif (RRM) containing	17575	protein-coding gene	gene with protein product		613484	SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila)		NA	10451362, 11331609	Standard	NM_015001	NM_015001	NA	Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9283C>T	1.37:g.16262018C>T	ENSP00000364912:p.Gln3095*	NA	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	50	17.181384	0.99881	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-12.7426	19.0275	0.92939	0.0:1.0:0.0:0.0	.	.	.	.	X	3095	.	ENSP00000364912:Q3095X	Q	+	1	0	SPEN	16134605	0.998000	0.40836	0.977000	0.42913	0.846000	0.48090	3.935000	0.56560	2.494000	0.84150	0.491000	0.48974	CAG	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025993.1		+	ENST00000375759.3	Nonsense_Mutation	SNP	1 : 16262018 - 16262018 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	291	37
SYT3	84258	broad.mit.edu	37	19	51133050	51133050	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:51133050A>T	ENST00000338916.4	-	3	1686	c.1053T>A	c.(1051-1053)ttT>ttA	p.F351L	SYT3_ENST00000544769.1_Missense_Mutation_p.F351L|SYT3_ENST00000600079.1_Missense_Mutation_p.F351L|SYT3_ENST00000593901.1_Missense_Mutation_p.F351L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	351	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCTTGGTCTGAAACTTTTTCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	50	50			NA	NA	19		NA											NA				51133050		2203	4300	6503	SO:0001583	missense			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023	84258	84258		Synaptotagmins	11511	protein-coding gene	gene with protein product		600327			NA	7749232	Standard	NM_032298	NM_032298	NA	Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1053T>A	19.37:g.51133050A>T	ENSP00000340914:p.Phe351Leu	NA	Q8N5Z1|Q8N640	37	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.471928	0.26423	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.68624	-0.34;-0.34	4.67	-4.51	0.03483	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.083116	0.47455	U	0.000232	T	0.44307	0.1287	N	0.12961	0.28	0.50039	D	0.999842	B	0.25955	0.138	B	0.18561	0.022	T	0.03157	-1.1066	10	0.29301	T	0.29	.	17.5164	0.87775	0.183:0.0:0.817:0.0	.	351	Q9BQG1	SYT3_HUMAN	L	351	ENSP00000340914:F351L;ENSP00000438883:F351L	ENSP00000340914:F351L	F	-	3	2	SYT3	55824862	0.967000	0.33354	0.971000	0.41717	0.461000	0.32589	0.042000	0.13949	-0.918000	0.03808	-0.250000	0.11733	TTT	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464910.1		-	ENST00000338916.4	Missense_Mutation	SNP	19 : 51133050 - 51133050 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	385	160
TECPR1	25851	broad.mit.edu	37	7	97863071	97863071	+	Missense_Mutation	SNP	G	G	T	rs113639233		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:97863071G>T	ENST00000447648.2	-	11	1633	c.1334C>A	c.(1333-1335)gCc>gAc	p.A445D	TECPR1_ENST00000542604.1_Missense_Mutation_p.A375D|TECPR1_ENST00000379795.3_Missense_Mutation_p.A445D			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	445						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGGCCTGAGGCTGAGTTCCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	22	21			NA	NA	7		NA											NA				97863071		2048	4189	6237	SO:0001583	missense				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356	25851	25851			22214	protein-coding gene	gene with protein product		614781			NA		Standard	NM_015395	NM_015395	NA	Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1334C>A	7.37:g.97863071G>T	ENSP00000404923:p.Ala445Asp	NA	A8KAD1|Q96EB0|Q9P2I9|Q9UFR6	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	5.957	0.360476	0.11296	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.31247	1.5;1.5;1.5	3.73	3.73	0.42828	.	1.167180	0.06148	N	0.673577	T	0.19846	0.0477	N	0.08118	0	0.09310	N	0.999998	B;B	0.29341	0.216;0.242	B;B	0.31191	0.125;0.068	T	0.08066	-1.0740	10	0.12430	T	0.62	-14.1381	14.8693	0.70444	0.0:0.0:1.0:0.0	.	375;445	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	D	445;445;375	ENSP00000404923:A445D;ENSP00000369121:A445D;ENSP00000441121:A375D	ENSP00000369121:A445D	A	-	2	0	TECPR1	97701007	0.059000	0.20769	0.081000	0.20488	0.039000	0.13416	2.694000	0.47035	1.826000	0.53198	0.462000	0.41574	GCC	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334661.1		-	ENST00000447648.2	Missense_Mutation	SNP	7 : 97863071 - 97863071 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	144	15
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)cgafs	p.R342fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.557		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	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	GRCh37	CM004908	TP53	M							62	48	53			NA	NA	17		NA											NA				7574003		2203	4300	6503	SO:0001589	frameshift_variant	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	ENST00000269305.4:c.1024delC	17.37:g.7574003delG	ENSP00000269305:p.Arg342fs	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	CCDS11118.1																																																																																			TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367397.1		-	ENST00000269305.4	Frame_Shift_Del	DEL	17 : 7574003 - 7574003 - PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	111	58
TRAPPC8	22878	broad.mit.edu	37	18	29511368	29511368	+	Silent	SNP	A	A	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr18:29511368A>T	ENST00000283351.4	-	2	611	c.276T>A	c.(274-276)gtT>gtA	p.V92V	TRAPPC8_ENST00000582539.1_Silent_p.V38V|TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Silent_p.V92V	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	92					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCCAGAAACAACATCATTCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	154	156			NA	NA	18		NA											NA				29511368		2203	4300	6503	SO:0001819	synonymous_variant			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339	22878	22878		Trafficking protein particle complex	29169	protein-coding gene	gene with protein product	general sporulation gene 1 homolog (S. cerevisiae)	614136	KIAA1012	KIAA1012	NA	10231032, 11230166	Standard	NM_014939	NM_014939	NA	Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.276T>A	18.37:g.29511368A>T		NA	A0JP15|B3KME5|Q9H0L2	37	CCDS11901.1																																																																																			TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255355.1		-	ENST00000283351.4	Silent	SNP	18 : 29511368 - 29511368 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	377	26
TTBK1	84630	broad.mit.edu	37	6	43251409	43251409	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:43251409G>A	ENST00000259750.4	+	14	3014	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	977						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCCCGAGCGCCCCTGGAGA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	26	24			NA	NA	6		NA											NA				43251409		2200	4296	6496	SO:0001819	synonymous_variant			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216	84630	84630			19140	protein-coding gene	gene with protein product					NA	11347906	Standard		XM_006715229	NA	Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2931G>A	6.37:g.43251409G>A		NA	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	37	CCDS34455.1																																																																																			TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040584.3		+	ENST00000259750.4	Silent	SNP	6 : 43251409 - 43251409 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	250	46
TUFT1	7286	broad.mit.edu	37	1	151552137	151552137	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:151552137A>G	ENST00000368849.3	+	11	999	c.937A>G	c.(937-939)Aaa>Gaa	p.K313E	TUFT1_ENST00000353024.3_Missense_Mutation_p.K254E|TUFT1_ENST00000392712.3_Missense_Mutation_p.K258E|TUFT1_ENST00000538902.1_Missense_Mutation_p.K332E|TUFT1_ENST00000368848.2_Missense_Mutation_p.K288E	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	313					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGAATTCAAAAGCTGTGAT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	53	54			NA	NA	1		NA											NA				151552137		2203	4300	6503	SO:0001583	missense			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367	7286	7286			12422	protein-coding gene	gene with protein product		600087			NA	7919663	Standard	NM_020127	NM_020127	NA	Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.937A>G	1.37:g.151552137A>G	ENSP00000357842:p.Lys313Glu	NA	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	37	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553081	0.86127	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	6.02	6.02	0.97574	.	0.050570	0.85682	D	0.000000	T	0.74921	0.3780	M	0.71581	2.175	0.35617	D	0.809083	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.997;0.999;0.984	T	0.76710	-0.2859	10	0.37606	T	0.19	-22.6669	14.4941	0.67674	1.0:0.0:0.0:0.0	.	332;288;313	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	E	313;258;254;288;332	ENSP00000357842:K313E;ENSP00000376476:K258E;ENSP00000343781:K254E;ENSP00000357841:K288E;ENSP00000437997:K332E	ENSP00000343781:K254E	K	+	1	0	TUFT1	149818761	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.020000	0.70826	2.304000	0.77564	0.528000	0.53228	AAA	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000035022.1		+	ENST00000368849.3	Missense_Mutation	SNP	1 : 151552137 - 151552137 G PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	128	20
USP28	57646	broad.mit.edu	37	11	113675589	113675589	+	Splice_Site	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:113675589C>T	ENST00000003302.4	-	20	2648		c.e20+1		USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000544967.1_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	NA					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTCTTCTCACCTTTCATCAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)							NA				0													120	110	113			NA	NA	11		NA											NA				113675589		2201	4296	6497	SO:0001630	splice_region_variant			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028	57646	57646		Ubiquitin-specific peptidases	12625	protein-coding gene	gene with protein product		610748	ubiquitin specific protease 28		NA	12838346, 11597335	Standard		XM_005271630	NA	Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2579+1G>A	11.37:g.113675589C>T		NA	B0YJC0|B0YJC1|Q9P213	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688412	0.88639	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113180799	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.461000	0.80834	2.817000	0.96982	0.563000	0.77884	.	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398789.1	Intron	-	ENST00000003302.4	Splice_Site	SNP	11 : 113675589 - 113675589 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	393	104
VWF	7450	broad.mit.edu	37	12	6080794	6080794	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:6080794G>A	ENST00000261405.5	-	44	7773	c.7519C>T	c.(7519-7521)Cgg>Tgg	p.R2507W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2507					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAGTCCCCCCGCGGTGAGCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	75	75			NA	NA	12		NA											NA				6080794		2203	4300	6503	SO:0001583	missense				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799	7450	7450		Endogenous ligands	12726	protein-coding gene	gene with protein product		613160		F8VWF	NA	2251280	Standard	NM_000552	NM_000552	NA	Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7519C>T	12.37:g.6080794G>A	ENSP00000261405:p.Arg2507Trp	NA	Q99806	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968317	0.53614	.	.	ENSG00000110799	ENST00000261405	T	0.37752	1.18	4.79	1.9	0.25705	.	0.194975	0.25261	N	0.031943	T	0.30947	0.0781	M	0.64404	1.975	0.47994	D	0.999565	B	0.19073	0.033	B	0.12156	0.007	T	0.10965	-1.0607	10	0.62326	D	0.03	.	5.2466	0.15500	0.1761:0.0:0.6614:0.1625	.	2507	P04275	VWF_HUMAN	W	2507	ENSP00000261405:R2507W	ENSP00000261405:R2507W	R	-	1	2	VWF	5951055	0.487000	0.25988	0.082000	0.20525	0.026000	0.11368	0.507000	0.22675	0.204000	0.20548	0.561000	0.74099	CGG	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399020.1		-	ENST00000261405.5	Missense_Mutation	SNP	12 : 6080794 - 6080794 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	551	190
WDR11	55717	broad.mit.edu	37	10	122626196	122626196	+	Silent	SNP	A	A	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr10:122626196A>T	ENST00000263461.6	+	8	1356	c.1110A>T	c.(1108-1110)gcA>gcT	p.A370A		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	370						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGAGAATGCAGCCGCCCTCG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	183	187			NA	NA	10		NA											NA				122626196		2203	4300	6503	SO:0001819	synonymous_variant			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008	55717	55717		WD repeat domain containing	13831	protein-coding gene	gene with protein product		606417	bromodomain and WD repeat domain containing 2	BRWD2	NA	10718198, 11536051	Standard		NM_018117	NA	Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1110A>T	10.37:g.122626196A>T		NA	Q5VWA1|Q9P2J6	37	CCDS7619.1																																																																																			WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050707.2		+	ENST00000263461.6	Silent	SNP	10 : 122626196 - 122626196 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	502	176
ZNF784	147808	broad.mit.edu	37	19	56135868	56135868	+	Silent	SNP	G	G	A			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:56135868G>A	ENST00000325351.4	-	1	99	c.60C>T	c.(58-60)tcC>tcT	p.S20S	ZNF784_ENST00000591479.1_Silent_p.S20S	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTGGCTCCTGGGATCGCGACT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	10			NA	NA	19		NA											NA				56135868		2161	4224	6385	SO:0001819	synonymous_variant			AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922	147808	147808		Zinc fingers, C2H2-type	33111	protein-coding gene	gene with protein product					NA		Standard	NM_203374	NM_203374	NA	Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.60C>T	19.37:g.56135868G>A		NA		37	CCDS12930.1																																																																																			ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453355.2		-	ENST00000325351.4	Silent	SNP	19 : 56135868 - 56135868 A PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	67	11
ZNF821	55565	broad.mit.edu	37	16	71913839	71913839	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:71913839C>T	ENST00000565601.1	-	2	418	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	ZNF821_ENST00000446827.2_Missense_Mutation_p.R4Q|ZNF821_ENST00000564134.1_Missense_Mutation_p.R4Q|ZNF821_ENST00000313565.6_Missense_Mutation_p.R4Q|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000425432.1_Missense_Mutation_p.R4Q	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R4L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TGTCTGTTTCCGACGGGACAT	0.438		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)											285	272	276			NA	NA	16		NA											NA				71913839		2198	4300	6498	SO:0001583	missense			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984	55565	55565		Zinc fingers, C2H2-type	28043	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_017530	NM_017530	NA	Approved		uc021tlb.1	O75541		ENST00000565601.1:c.11G>A	16.37:g.71913839C>T	ENSP00000455648:p.Arg4Gln	NA	A6NK48|D3DWS3	37	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924263	0.73213	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01505	6.15;4.82;4.82	5.75	5.75	0.90469	.	0.197314	0.41605	D	0.000844	T	0.04861	0.0131	N	0.19112	0.55	0.52501	D	0.999955	D;D	0.64830	0.994;0.99	P;D	0.66847	0.885;0.947	T	0.57963	-0.7720	10	0.51188	T	0.08	-12.0468	16.6641	0.85248	0.0:1.0:0.0:0.0	.	4;4	B4DKK4;O75541-2	.;.	Q	4	ENSP00000398089:R4Q;ENSP00000313822:R4Q;ENSP00000405908:R4Q	ENSP00000313822:R4Q	R	-	2	0	ZNF821	70471340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.962000	0.56766	2.696000	0.92011	0.655000	0.94253	CGG	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434180.1		-	ENST00000565601.1	Missense_Mutation	SNP	16 : 71913839 - 71913839 T PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	1495	220
ZNF860	344787	broad.mit.edu	37	3	32032006	32032006	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr3:32032006G>C	ENST00000360311.4	+	2	1984	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TCATACTGGAGAGAAACCTTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	31			NA	NA	3		NA											NA				32032006		692	1591	2283	SO:0001583	missense			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385	344787	344787		Zinc fingers, C2H2-type, -	34513	protein-coding gene	gene with protein product					NA		Standard		NM_001137674	NA	Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1435G>C	3.37:g.32032006G>C	ENSP00000373274:p.Glu479Gln	NA	B4DFA4	37	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725280	0.48833	.	.	ENSG00000197385	ENST00000360311	T	0.25912	1.77	0.3	0.3	0.15776	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21631	0.0521	L	0.45698	1.435	0.25667	N	0.985932	P	0.48407	0.91	B	0.43331	0.416	T	0.13308	-1.0514	8	.	.	.	.	6.4042	0.21656	2.0E-4:0.0:0.9998:0.0	.	479	A6NHJ4	ZN860_HUMAN	Q	479	ENSP00000373274:E479Q	.	E	+	1	0	ZNF860	32007010	1.000000	0.71417	0.153000	0.22517	0.142000	0.21351	4.837000	0.62796	0.378000	0.24764	0.379000	0.24179	GAG	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341957.1		+	ENST00000360311.4	Missense_Mutation	SNP	3 : 32032006 - 32032006 C PAAD-TCGA-HV-A5A6-Tumor-SM-47KL2	460	7
