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
ABCA7	10347	broad.mit.edu	37	19	1045184	1045184	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:1045184C>A	ENST00000263094.6	+	12	1630	c.1399C>A	c.(1399-1401)Cgc>Agc	p.R467S	ABCA7_ENST00000435683.2_Missense_Mutation_p.R329S|ABCA7_ENST00000433129.1_Missense_Mutation_p.R467S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	467					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAAAATCCGCATGGACAT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	44	44			NA	NA	19		NA											NA				1045184		2202	4299	6501	SO:0001583	missense			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687	10347	10347		ATP binding cassette transporters / subfamily A	37	protein-coding gene	gene with protein product		605414			NA		Standard	NM_019112	NM_019112	NA	Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1399C>A	19.37:g.1045184C>A	ENSP00000263094:p.Arg467Ser	NA	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592794	0.86953	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.98762	-5.12;-5.12	4.66	4.66	0.58398	.	.	.	.	.	D	0.99108	0.9693	M	0.85630	2.765	0.40486	D	0.980498	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99869	1.1093	9	0.87932	D	0	.	15.007	0.71519	0.0:1.0:0.0:0.0	.	329;467	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	S	467	ENSP00000263094:R467S;ENSP00000414062:R467S	ENSP00000263094:R467S	R	+	1	0	ABCA7	996184	0.996000	0.38824	1.000000	0.80357	0.911000	0.54048	3.113000	0.50376	2.118000	0.64928	0.462000	0.41574	CGC	ABCA7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394993.1		+	ENST00000263094.6	Missense_Mutation	SNP	19 : 1045184 - 1045184 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	565	8
ABCC12	94160	broad.mit.edu	37	16	48149365	48149365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:48149365G>T	ENST00000311303.3	-	13	2295	c.1950C>A	c.(1948-1950)ctC>ctA	p.L650L	ABCC12_ENST00000416054.1_Nonsense_Mutation_p.S626*|ABCC12_ENST00000448542.1_Silent_p.L650L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	650	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTTTCCCCTGAGCGTCTTCT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	177	182			NA	NA	16		NA											NA				48149365		2201	4300	6501	SO:0001819	synonymous_variant			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798	94160	94160		ATP binding cassette transporters / subfamily C	14640	protein-coding gene	gene with protein product		607041			NA	11435397, 11483364	Standard	NM_033226	NM_033226	NA	Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1950C>A	16.37:g.48149365G>T		NA	Q49AL2|Q8TAF0|Q8TEY2	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	36	5.711257	0.96821	.	.	ENSG00000140798	ENST00000416054	.	.	.	5.24	0.714	0.18180	.	.	.	.	.	.	.	.	.	.	.	0.47123	A	0.999322	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.794	0.03057	0.2309:0.2487:0.3932:0.1272	.	.	.	.	X	626	.	ENSP00000413046:S626X	S	-	2	0	ABCC12	46706866	0.000000	0.05858	0.903000	0.35520	0.535000	0.34838	-0.463000	0.06696	0.286000	0.22352	0.467000	0.42956	TCA	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256837.1		-	ENST00000311303.3	Silent	SNP	16 : 48149365 - 48149365 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	695	11
ADAMTS2	9509	broad.mit.edu	37	5	178552049	178552049	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:178552049G>A	ENST00000251582.7	-	19	2984	c.2883C>T	c.(2881-2883)gaC>gaT	p.D961D		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	961	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGCCGGGCGTCATTGCAGT	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	74	78	76		2883	2	0.4	5		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS2	NM_014244.4		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		961/1212	178552049	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116	9509	9509		ADAM metallopeptidases with thrombospondin type 1 motif	218	protein-coding gene	gene with protein product	procollagen I N-proteinase, procollagen N-endopeptidase	604539	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2		NA	10094461, 15373769	Standard	NM_014244	NM_014244	NA	Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2883C>T	5.37:g.178552049G>A		NA		37	CCDS4444.1																																																																																			ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253507.1		-	ENST00000251582.7	Silent	SNP	5 : 178552049 - 178552049 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	780	73
ADD3	120	broad.mit.edu	37	10	111885676	111885676	+	Silent	SNP	G	G	T	rs138443686		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:111885676G>T	ENST00000277900.8	+	11	1859	c.1494G>T	c.(1492-1494)ccG>ccT	p.P498P	ADD3_ENST00000360162.3_Silent_p.P498P|ADD3_ENST00000356080.4_Silent_p.P498P	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	498						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACACAAACCCGAATGAGGTAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	97	96			NA	NA	10		NA											NA				111885676		2203	4300	6503	SO:0001819	synonymous_variant			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700	120	120			245	protein-coding gene	gene with protein product		601568		ADDL	NA	8893809	Standard	NM_019903	XM_005269529	NA	Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000277900.8:c.1494G>T	10.37:g.111885676G>T		NA	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	37	CCDS7562.1																																																																																			ADD3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050290.1		+	ENST00000277900.8	Silent	SNP	10 : 111885676 - 111885676 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	547	8
ADH1A	124	broad.mit.edu	37	4	100203666	100203666	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:100203666G>A	ENST00000209668.2	-	6	778	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	222					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GATGTCCACCGCAATGATTCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													286	289	288			NA	NA	4		NA											NA				100203666		2203	4300	6503	SO:0001583	missense			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	124	124	1.1.1.1	Alcohol dehydrogenases	249	protein-coding gene	gene with protein product		103700		ADH1	NA	3006456	Standard	NM_000667	NM_000667	NA	Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.665C>T	4.37:g.100203666G>A	ENSP00000209668:p.Ala222Val	NA	A8K3E3|Q17R68	37	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588433	0.28357	.	.	ENSG00000187758	ENST00000209668	T	0.04970	3.52	3.11	-0.519	0.11939	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.245941	0.39146	N	0.001456	T	0.19446	0.0467	M	0.74881	2.28	0.27511	N	0.951696	P;D	0.76494	0.877;0.999	B;P	0.60541	0.175;0.876	T	0.10405	-1.0631	10	0.59425	D	0.04	-7.6741	15.9733	0.80036	0.0:0.6313:0.3687:0.0	.	13;222	B4E1R1;P07327	.;ADH1A_HUMAN	V	222	ENSP00000209668:A222V	ENSP00000209668:A222V	A	-	2	0	ADH1A	100422689	0.001000	0.12720	0.529000	0.27951	0.148000	0.21650	-0.192000	0.09587	0.061000	0.16311	0.460000	0.39030	GCG	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253669.1		-	ENST00000209668.2	Missense_Mutation	SNP	4 : 100203666 - 100203666 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1421	32
ADNP	23394	broad.mit.edu	37	20	49518611	49518611	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:49518611C>A	ENST00000396029.3	-	4	711	c.144G>T	c.(142-144)ttG>ttT	p.L48F	ADNP_ENST00000396032.3_Missense_Mutation_p.L48F|ADNP_ENST00000371602.4_Missense_Mutation_p.L48F|ADNP_ENST00000349014.3_Missense_Mutation_p.L48F	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	48						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TAGTGTTTTTCAAATAAAAGT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	140	140			NA	NA	20		NA											NA				49518611		2203	4300	6503	SO:0001583	missense			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126	23394	23394		Homeoboxes / ZF class	15766	protein-coding gene	gene with protein product	ADNP homeobox 1	611386	activity-dependent neuroprotector		NA	9872452, 11013255	Standard	NM_181442	NM_015339	NA	Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.144G>T	20.37:g.49518611C>A	ENSP00000379346:p.Leu48Phe	NA	E1P5Y2|O94881|Q5BKU2|Q9UG34	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268318	0.23136	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032;ENST00000534467	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	6.17	6.17	0.99709	.	0.210963	0.44483	D	0.000449	T	0.50837	0.1639	N	0.04090	-0.28	0.42869	D	0.994132	P	0.48911	0.917	B	0.43478	0.421	T	0.54296	-0.8315	9	.	.	.	-19.1599	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	48	Q9H2P0	ADNP_HUMAN	F	48	ENSP00000360662:L48F;ENSP00000342905:L48F;ENSP00000379346:L48F;ENSP00000379349:L48F;ENSP00000436181:L48F	.	L	-	3	2	ADNP	48952018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.496000	0.35638	2.941000	0.99782	0.655000	0.94253	TTG	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079705.2		-	ENST00000396029.3	Missense_Mutation	SNP	20 : 49518611 - 49518611 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	813	14
AHNAK	79026	broad.mit.edu	37	11	62292931	62292931	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:62292931G>T	ENST00000378024.4	-	5	9232	c.8958C>A	c.(8956-8958)ccC>ccA	p.P2986P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2986					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)				CTTCCACTTTGGGCAGAGAAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	150	147			NA	NA	11		NA											NA				62292931		2202	4299	6501	SO:0001819	synonymous_variant			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.8958C>A	11.37:g.62292931G>T		NA		37	CCDS31584.1																																																																																			AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Silent	SNP	11 : 62292931 - 62292931 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1232	12
ANK3	288	broad.mit.edu	37	10	61828647	61828647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:61828647C>A	ENST00000280772.2	-	37	12183	c.11992G>T	c.(11992-11994)Gaa>Taa	p.E3998*	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAAAATATTCAATGGAATGT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	105	106			NA	NA	10		NA											NA				61828647		2203	4300	6503	SO:0001587	stop_gained			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150	288	288		Ankyrin repeat domain containing	494	protein-coding gene	gene with protein product	ankyrin-3, node of Ranvier, ankyrin-G	600465			NA	7665168	Standard	NM_020987	NM_020987	NA	Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11992G>T	10.37:g.61828647C>A	ENSP00000280772:p.Glu3998*	NA	Q5VXD5	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	54	21.771729	0.99943	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.72	5.72	0.89469	.	0.000000	0.43416	D	0.000568	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	.	.	.	X	3998	.	ENSP00000280772:E3998X	E	-	1	0	ANK3	61498653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.864000	0.62990	2.711000	0.92665	0.655000	0.94253	GAA	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048201.4		-	ENST00000280772.2	Nonsense_Mutation	SNP	10 : 61828647 - 61828647 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	770	10
ANKLE2	23141	broad.mit.edu	37	12	133304629	133304629	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:133304629C>A	ENST00000542657.1	-	3	2123	c.669G>T	c.(667-669)tcG>tcT	p.S223S	ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000539605.1_Silent_p.S806S|ANKLE2_ENST00000542282.1_Silent_p.S223S|ANKLE2_ENST00000357997.5_Silent_p.S868S			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	868						cytoplasm|integral to membrane|nuclear envelope		p.S868S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGTCTGTCCGAGGGTGAGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											119	130	126			NA	NA	12		NA											NA				133304629		1996	4148	6144	SO:0001819	synonymous_variant			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915	23141	23141		Ankyrin repeat domain containing	29101	protein-coding gene	gene with protein product	LEM domain containing 7		KIAA0692	KIAA0692	NA	9734811	Standard		XM_005266159	NA	Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000542657.1:c.669G>T	12.37:g.133304629C>A		NA	O75176|Q6P6A5|Q8TAZ9|Q96DH4	37																																																																																				ANKLE2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397714.1		-	ENST00000542657.1	Silent	SNP	12 : 133304629 - 133304629 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	873	10
ANO3	63982	broad.mit.edu	37	11	26556101	26556101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:26556101C>A	ENST00000256737.3	+	9	1820	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	323						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGGAATATCAAAAGTGGGT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	78	78			NA	NA	11		NA											NA				26556101		2203	4299	6502	SO:0001587	stop_gained			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343	63982	63982		Ion channels / Chloride channels : Calcium activated : Anoctamins	14004	protein-coding gene	gene with protein product	transmembrane protein 16C (eight membrane-spanning domains)	610110	chromosome 11 open reading frame 25, transmembrane protein 16C	C11orf25, TMEM16C	NA	12739008, 15067359, 23200863, 24692353	Standard	NM_031418	NM_031418	NA	Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.968C>A	11.37:g.26556101C>A	ENSP00000256737:p.Ser323*	NA		37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	39	7.882011	0.98542	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.03	5.03	0.67393	.	0.390504	0.26959	N	0.021623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	17.9596	0.89081	0.0:1.0:0.0:0.0	.	.	.	.	X	307;307;323;225;177	.	ENSP00000256737:S323X	S	+	2	0	ANO3	26512677	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.640000	0.61368	2.349000	0.79799	0.460000	0.39030	TCA	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387806.1		+	ENST00000256737.3	Nonsense_Mutation	SNP	11 : 26556101 - 26556101 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	506	10
ANXA6	309	broad.mit.edu	37	5	150488089	150488089	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:150488089C>A	ENST00000354546.5	-	23	1934	c.1707G>T	c.(1705-1707)atG>atT	p.M569I	ANXA6_ENST00000523714.1_Missense_Mutation_p.M537I|ANXA6_ENST00000521512.1_Missense_Mutation_p.M356I|ANXA6_ENST00000377751.5_Missense_Mutation_p.M226I|ANXA6_ENST00000356496.5_Missense_Mutation_p.M563I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	569						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAGTTGGTCATCTTGATGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	181	181			NA	NA	5		NA											NA				150488089		2008	4179	6187	SO:0001583	missense			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043	309	309		Annexins	544	protein-coding gene	gene with protein product		114070		ANX6	NA	3258820	Standard	NM_001155	NM_001155	NA	Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1707G>T	5.37:g.150488089C>A	ENSP00000346550:p.Met569Ile	NA	D3DQH4|Q6ZT79	37	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	3.983	-0.006052	0.07773	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0	5.57	4.69	0.59074	Annexin repeat, conserved site (1);	0.431335	0.27668	N	0.018342	T	0.02342	0.0072	N	0.16862	0.45	0.28661	N	0.906151	B;B;B	0.29571	0.08;0.249;0.006	B;B;B	0.32090	0.14;0.051;0.013	T	0.36504	-0.9745	10	0.02654	T	1	.	8.7658	0.34702	0.1487:0.7736:0.0:0.0777	.	356;563;569	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	I	569;537;226;563;356;443	ENSP00000346550:M569I;ENSP00000430517:M537I;ENSP00000366980:M226I;ENSP00000348889:M563I;ENSP00000430420:M356I	ENSP00000346550:M569I	M	-	3	0	ANXA6	150468282	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.922000	0.56462	1.334000	0.45468	0.655000	0.94253	ATG	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377668.2		-	ENST00000354546.5	Missense_Mutation	SNP	5 : 150488089 - 150488089 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	924	12
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512		NA											T	239	0.11	0.07	0.12	2184	0.1	0.9547	,	,	NA	0.0181	0.13	NA	NA	0.125	0.8394	LOWCOV	NA	NA	0.0074	SNP								NA				5	Substitution - coding silent(5)	endometrium(2)|lung(1)|prostate(1)|kidney(1)						T		4,4184		0,4,2090	143	127	132		1008	-7.7	0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT	NA	0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327	7984	7984		Rho guanine nucleotide exchange factors	13209	protein-coding gene	gene with protein product	transforming immortalized mammary oncogene, guanine nucleotide regulatory protein TIM	600888			NA	8134109, 7656213	Standard	NM_005435	NM_005435	NA	Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C		NA	A6NNJ2|Q6ZML7	37	CCDS34771.1																																																																																			ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349981.1		+	ENST00000056217.5	Silent	SNP	7 : 144060770 - 144060770 C PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	332	5
ASH1L	55870	broad.mit.edu	37	1	155447701	155447701	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:155447701C>A	ENST00000368346.3	-	3	5599	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1654*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1654	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTGCCCTTTCGTTAGAAGGC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	76	74			NA	NA	1		NA											NA				155447701		2203	4300	6503	SO:0001587	stop_gained			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539	55870	55870		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	19088	protein-coding gene	gene with protein product		607999			NA	10860993, 16545939	Standard	NM_018489	NM_018489	NA	Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4960G>T	1.37:g.155447701C>A	ENSP00000357330:p.Glu1654*	NA	Q59GP1|Q5T714|Q5T715|Q9P2C7	37		.	.	.	.	.	.	.	.	.	.	C	49	15.116674	0.99823	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.44	5.44	0.79542	.	0.067417	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.0495	0.93038	0.0:1.0:0.0:0.0	.	.	.	.	X	1654	.	ENSP00000357330:E1654X	E	-	1	0	ASH1L	153714325	0.998000	0.40836	0.998000	0.56505	0.955000	0.61496	4.846000	0.62860	2.832000	0.97577	0.655000	0.94253	GAA	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039400.1		-	ENST00000368346.3	Nonsense_Mutation	SNP	1 : 155447701 - 155447701 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	864	10
ASPN	54829	broad.mit.edu	37	9	95232987	95232987	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:95232987G>T	ENST00000375543.1	-	3	594	c.351C>A	c.(349-351)atC>atA	p.I117I	ASPN_ENST00000395538.3_Silent_p.I117I|ASPN_ENST00000375544.3_Silent_p.I117I|CENPP_ENST00000375587.3_Intron	NM_001193335.1	NP_001180264	Q9BXN1	ASPN_HUMAN	asporin	117					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						CATTTTCTTTGATTTCCTTAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	83	81			NA	NA	9		NA											NA				95232987		2202	4289	6491	SO:0001819	synonymous_variant			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819	54829	54829		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	14872	protein-coding gene	gene with protein product	asporin proteoglycan	608135	asporin (LRR class 1)		NA		Standard	NM_017680	NM_017680	NA	Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375543.1:c.351C>A	9.37:g.95232987G>T		NA	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	37																																																																																				ASPN-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000053095.1		-	ENST00000375543.1	Silent	SNP	9 : 95232987 - 95232987 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	540	14
ATP10A	57194	broad.mit.edu	37	15	25928570	25928570	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:25928570C>G	ENST00000356865.6	-	17	3466	c.3355G>C	c.(3355-3357)Gac>Cac	p.D1119H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1119					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TACCACTGGTCAATCATGGTA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	81			NA	NA	15		NA											NA				25928570		2203	4300	6503	SO:0001583	missense			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190	57194	57194		ATPases / P-type	13542	protein-coding gene	gene with protein product		605855	ATPase, Class V, type 10C, ATPase, Class V, type 10A	ATP10C	NA	11015572, 9628581	Standard	NM_024490	NM_024490	NA	Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3355G>C	15.37:g.25928570C>G	ENSP00000349325:p.Asp1119His	NA	Q969I4	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693762	0.88735	.	.	ENSG00000206190	ENST00000356865	T	0.42131	0.98	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83740	0.0203	10	0.87932	D	0	-36.8332	17.8828	0.88845	0.0:1.0:0.0:0.0	.	1119	O60312	AT10A_HUMAN	H	1119	ENSP00000349325:D1119H	ENSP00000349325:D1119H	D	-	1	0	ATP10A	23479663	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.511000	0.81718	2.205000	0.71048	0.655000	0.94253	GAC	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414830.1		-	ENST00000356865.6	Missense_Mutation	SNP	15 : 25928570 - 25928570 G PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	202	5
ATP2B2	491	broad.mit.edu	37	3	10452375	10452375	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:10452375G>T	ENST00000397077.1	-	5	899	c.324C>A	c.(322-324)ctC>ctA	p.L108L	ATP2B2_ENST00000383800.4_Silent_p.L108L|ATP2B2_ENST00000360273.2_Silent_p.L108L|ATP2B2_ENST00000343816.4_Silent_p.L108L|ATP2B2_ENST00000352432.4_Silent_p.L108L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	108					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGGATGATGAGCGTCACGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(125;1619 1709 15675 19819 38835)							NA				0													186	198	194			NA	NA	3		NA											NA				10452375		2203	4300	6503	SO:0001819	synonymous_variant			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	491	491	3.6.3.8	ATPases / P-type	815	protein-coding gene	gene with protein product	plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2	108733			NA	1313367	Standard	NM_001683	NM_001001331	NA	Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000397077.1:c.324C>A	3.37:g.10452375G>T		NA	O00766|Q12994|Q16818	37	CCDS2601.1																																																																																			ATP2B2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276089.2		-	ENST00000397077.1	Silent	SNP	3 : 10452375 - 10452375 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1155	14
AVL9	23080	broad.mit.edu	37	7	32615681	32615681	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:32615681C>A	ENST00000318709.4	+	13	1906	c.1685C>A	c.(1684-1686)cCa>cAa	p.P562Q	AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.P562Q	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	562						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAAATAAATCCAAAGTAAGCG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	124	125			NA	NA	7		NA											NA				32615681		2203	4300	6503	SO:0001583	missense			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778	23080	23080			28994	protein-coding gene	gene with protein product		612927	KIAA0241	KIAA0241	NA	17229886, 22595670	Standard	NM_015060	XM_005249668	NA	Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1685C>A	7.37:g.32615681C>A	ENSP00000315568:p.Pro562Gln	NA	Q92573	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252531	0.95336	.	.	ENSG00000105778	ENST00000318709;ENST00000409301	T;T	0.54279	0.58;0.6	5.73	5.73	0.89815	.	0.055360	0.64402	D	0.000001	T	0.64702	0.2622	M	0.73217	2.22	0.80722	D	1	D	0.57899	0.981	P	0.49752	0.621	T	0.68697	-0.5340	10	0.72032	D	0.01	-21.0103	19.904	0.97001	0.0:1.0:0.0:0.0	.	562	Q8NBF6	AVL9_HUMAN	Q	562	ENSP00000315568:P562Q;ENSP00000387011:P562Q	ENSP00000315568:P562Q	P	+	2	0	AVL9	32582206	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.521000	0.81832	2.689000	0.91719	0.655000	0.94253	CCA	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328643.1		+	ENST00000318709.4	Missense_Mutation	SNP	7 : 32615681 - 32615681 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	609	7
BCS1L	617	broad.mit.edu	37	2	219525978	219525978	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:219525978C>A	ENST00000431802.1	+	2	967	c.268C>A	c.(268-270)Cgc>Agc	p.R90S	BCS1L_ENST00000412366.1_Missense_Mutation_p.R90S|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90S|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90S|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90S|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90S|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	90					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGAGTGGCCGCATTTCCAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	125	124			NA	NA	2		NA											NA				219525978		2203	4300	6503	SO:0001583	missense			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582	617	617		ATPases / AAA-type, Mitochondrial respiratory chain complex assembly factors	1020	protein-coding gene	gene with protein product	GRACILE syndrome, Bjornstad syndrome	603647	BCS1 (yeast homolog)-like, BCS1-like (yeast), BCS1-like (S. cerevisiae)		NA	9878253, 17314340	Standard	NM_004328	NM_001079866	NA	Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.268C>A	2.37:g.219525978C>A	ENSP00000413908:p.Arg90Ser	NA	B3KTW9|Q7Z2V7	37	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	C	7.689	0.690688	0.15039	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96073	-3.9;-3.9;-2.29;-2.29;-2.29;-2.93;-2.29;-2.29;-2.29;-2.29	5.6	4.73	0.59995	BCS1, N-terminal (1);	0.121283	0.56097	D	0.000032	D	0.90195	0.6935	N	0.24115	0.695	0.51233	D	0.999917	B	0.24483	0.104	B	0.27262	0.078	D	0.85611	0.1258	10	0.08381	T	0.77	-10.8847	14.3379	0.66603	0.0:0.9291:0.0:0.0709	.	90	Q9Y276	BCS1_HUMAN	S	90	ENSP00000398957:R90S;ENSP00000395440:R90S;ENSP00000352219:R90S;ENSP00000375957:R90S;ENSP00000375958:R90S;ENSP00000397293:R90S;ENSP00000375959:R90S;ENSP00000406494:R90S;ENSP00000404999:R90S;ENSP00000413908:R90S	ENSP00000352219:R90S	R	+	1	0	BCS1L	219234222	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	5.933000	0.70130	1.367000	0.46095	0.655000	0.94253	CGC	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336756.1		+	ENST00000431802.1	Missense_Mutation	SNP	2 : 219525978 - 219525978 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	713	9
BIRC6	57448	broad.mit.edu	37	2	32613902	32613902	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:32613902C>A	ENST00000421745.2	+	4	864	c.730C>A	c.(730-732)Caa>Aaa	p.Q244K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	244					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAAAATAAATCAAAATGTTGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(94;175 1509 16028 18060 45422)							NA				0													151	128	136			NA	NA	2		NA											NA				32613902		2203	4300	6503	SO:0001583	missense			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760	57448	57448		Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2	13516	protein-coding gene	gene with protein product	apollon	605638	baculoviral IAP repeat-containing 6		NA	10544019	Standard	NM_016252	NM_016252	NA	Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.730C>A	2.37:g.32613902C>A	ENSP00000393596:p.Gln244Lys	NA	Q9ULD1	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970684	0.74246	.	.	ENSG00000115760	ENST00000421745	T	0.74002	-0.8	5.75	5.75	0.90469	.	0.066156	0.64402	D	0.000009	T	0.67163	0.2864	L	0.34521	1.04	0.58432	D	0.999999	P	0.48764	0.915	B	0.40940	0.344	T	0.65903	-0.6055	10	0.29301	T	0.29	.	19.9498	0.97195	0.0:1.0:0.0:0.0	.	244	Q9NR09	BIRC6_HUMAN	K	244	ENSP00000393596:Q244K	ENSP00000393596:Q244K	Q	+	1	0	BIRC6	32467406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.715000	0.92844	0.650000	0.86243	CAA	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318769.3		+	ENST00000421745.2	Missense_Mutation	SNP	2 : 32613902 - 32613902 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	294	12
BTBD7	55727	broad.mit.edu	37	14	93761126	93761126	+	Silent	SNP	G	G	T	rs146080654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:93761126G>T	ENST00000334746.5	-	3	547	c.240C>A	c.(238-240)gcC>gcA	p.A80A	BTBD7_ENST00000298896.3_Silent_p.A80A|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Silent_p.A80A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	80										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGGCATGATCGGCAGACCTAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	141	140			NA	NA	14		NA											NA				93761126		2203	4300	6503	SO:0001819	synonymous_variant			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114	55727	55727		BTB/POZ domain containing	18269	protein-coding gene	gene with protein product		610386			NA	10819331, 11527404	Standard	NM_001002860	NM_001289133	NA	Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.240C>A	14.37:g.93761126G>T		NA	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	37	CCDS32146.1																																																																																			BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412701.1		-	ENST00000334746.5	Silent	SNP	14 : 93761126 - 93761126 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	999	12
CATSPER4	378807	broad.mit.edu	37	1	26524785	26524785	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:26524785C>A	ENST00000456354.2	+	6	754	c.687C>A	c.(685-687)tcC>tcA	p.S229S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	229					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.S229S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTTTTTTCCGTGTTTGGAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											290	303	298			NA	NA	1		NA											NA				26524785		2203	4300	6503	SO:0001819	synonymous_variant			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782	378807	378807		Voltage-gated ion channels / Cation channels, sperm associated	23220	protein-coding gene	gene with protein product		609121			NA	12932298, 17227845, 16382101	Standard	NM_198137	NM_198137	NA	Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.687C>A	1.37:g.26524785C>A		NA	A1A4W6|Q5VY71	37	CCDS30645.1																																																																																			CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019849.2		+	ENST00000456354.2	Silent	SNP	1 : 26524785 - 26524785 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1506	12
CATSPERD	257062	broad.mit.edu	37	19	5748182	5748182	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:5748182G>T	ENST00000381624.3	+	10	881	c.820G>T	c.(820-822)Gac>Tac	p.D274Y	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	274						integral to membrane					NA						TCAGCTCGTCGACACCGTCCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	96	94			NA	NA	19		NA											NA				5748182		1995	4159	6154	SO:0001583	missense			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898	257062	257062			28598	protein-coding gene	gene with protein product			transmembrane protein 146	TMEM146	NA	21224844	Standard	NM_152784	NM_152784	NA	Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.820G>T	19.37:g.5748182G>T	ENSP00000371037:p.Asp274Tyr	NA	Q6ZRP1	37	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	9.292	1.050834	0.19827	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.23552	1.9	3.0	-6.0	0.02206	.	2.349280	0.02331	N	0.073899	T	0.14270	0.0345	L	0.27053	0.805	0.09310	N	0.999998	B	0.26258	0.145	B	0.23716	0.048	T	0.08764	-1.0706	10	0.49607	T	0.09	-2.0981	0.5168	0.00605	0.3854:0.13:0.2226:0.262	.	274	Q86XM0	TM146_HUMAN	Y	200;274	ENSP00000371037:D274Y	ENSP00000371037:D274Y	D	+	1	0	TMEM146	5699182	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.579000	0.05834	-1.819000	0.01216	-0.181000	0.13052	GAC	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286953.2		+	ENST00000381624.3	Missense_Mutation	SNP	19 : 5748182 - 5748182 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	381	10
CCDC127	133957	broad.mit.edu	37	5	205888	205888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:205888G>A	ENST00000296824.3	-	3	439	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	103										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			AGGGCTTCTCGGTAACTAGCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	101	101			NA	NA	5		NA											NA				205888		2203	4300	6503	SO:0001587	stop_gained			AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366	133957	133957			30520	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_145265	NM_145265	NA	Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.307C>T	5.37:g.205888G>A	ENSP00000296824:p.Arg103*	NA		37	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629715	0.46944	.	.	ENSG00000164366	ENST00000296824	.	.	.	5.77	4.91	0.64330	.	0.120792	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6082	14.1903	0.65635	0.0:0.0:0.8491:0.1509	.	.	.	.	X	103	.	ENSP00000296824:R103X	R	-	1	2	CCDC127	258888	1.000000	0.71417	0.944000	0.38274	0.475000	0.33008	2.365000	0.44196	1.457000	0.47850	-0.218000	0.12543	CGA	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365459.2		-	ENST00000296824.3	Nonsense_Mutation	SNP	5 : 205888 - 205888 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	569	9
CCDC158	339965	broad.mit.edu	37	4	77276555	77276555	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:77276555G>T	ENST00000388914.3	-	14	2360	c.2208C>A	c.(2206-2208)atC>atA	p.I736I		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	736										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTTGGCTGTGATTTGCTTTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													238	218	224			NA	NA	4		NA											NA				77276555		1902	4126	6028	SO:0001819	synonymous_variant			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749	339965	339965			26374	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001042784	NM_001042784	NA	Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2208C>A	4.37:g.77276555G>T		NA	Q8IYQ1|Q8N7D4|Q8N7E3	37	CCDS43242.1																																																																																			CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362694.2		-	ENST00000388914.3	Silent	SNP	4 : 77276555 - 77276555 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	838	15
CCDC63	160762	broad.mit.edu	37	12	111336859	111336859	+	Silent	SNP	C	C	T	rs115748204	by1000genomes	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:111336859C>T	ENST00000545036.1	+	9	1409	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D	CCDC63_ENST00000308208.5_Silent_p.D424D|CCDC63_ENST00000552694.1_Silent_p.D345D			Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	424										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAAACTGTGACGCCACCAAGA	0.498		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C		1,4405	2.1+/-5.4	0,1,2202	100	89	93		1272	-4.7	0.8	12	dbSNP_132	93	0,8600		0,0,4300	no	coding-synonymous	CCDC63	NM_152591.1		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		424/564	111336859	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093	160762	160762			26669	protein-coding gene	gene with protein product	outer row dynein assembly 5 homolog (Chlamydomonas)				NA		Standard	NM_152591	NM_001286243	NA	Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000545036.1:c.1152C>T	12.37:g.111336859C>T		NA	Q0P603|Q6P2E1	37																																																																																				CCDC63-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404672.1		+	ENST00000545036.1	Silent	SNP	12 : 111336859 - 111336859 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	291	33
CDH4	1002	broad.mit.edu	37	20	60511971	60511971	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:60511971G>A	ENST00000360469.5	+	16	2809	c.2721G>A	c.(2719-2721)gcG>gcA	p.A907A	CDH4_ENST00000543233.1_Silent_p.A833A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	907					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAAGCTGGCGGACATGTATG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	79	57	64		2721	-1.1	1	20		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		907/917	60511971	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242	1002	1002		Cadherins / Major cadherins	1763	protein-coding gene	gene with protein product	R-Cadherin	603006			NA	10191097, 10516427	Standard	NM_001794	NM_001794	NA	Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2721G>A	20.37:g.60511971G>A		NA	Q2M208|Q5VZ44|Q9BZ05	37	CCDS13488.1																																																																																			CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079965.2		+	ENST00000360469.5	Silent	SNP	20 : 60511971 - 60511971 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	245	10
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Frame_Shift_Del	DEL	C	C	-	rs121913384		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:21971096delC	ENST00000479692.2	-	2	123	c.109delG	c.(109-111)gagfs	p.E37fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM034218	CDKN2A	M	rs121913384						13	16	15			NA	NA	9		NA											NA				21971096		2176	4259	6435	SO:0001589	frameshift_variant			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.109delG	9.37:g.21971096delC	ENSP00000466887:p.Glu37fs	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37																																																																																				CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Frame_Shift_Del	DEL	9 : 21971096 - 21971096 - PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	128	30
CEP135	9662	broad.mit.edu	37	4	56890672	56890672	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:56890672G>T	ENST00000257287.4	+	25	3450	c.3326G>T	c.(3325-3327)cGa>cTa	p.R1109L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1109					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.R1109L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AACAGAGAACGAGCAATCCAA	0.378		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)											198	186	190			NA	NA	4		NA											NA				56890672		2203	4300	6503	SO:0001583	missense			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799	9662	9662			29086	protein-coding gene	gene with protein product		611423	KIAA0635, centrosomal protein 4	KIAA0635, CEP4	NA	9734811, 14654843	Standard	NM_025009	NM_025009	NA	Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3326G>T	4.37:g.56890672G>T	ENSP00000257287:p.Arg1109Leu	NA	B2RMY0|O75130|Q58F25|Q9H8H7	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294174	0.81025	.	.	ENSG00000174799	ENST00000257287	T	0.15952	2.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46884	-0.9159	10	0.62326	D	0.03	.	19.7006	0.96050	0.0:0.0:1.0:0.0	.	1109	Q66GS9	CP135_HUMAN	L	1109	ENSP00000257287:R1109L	ENSP00000257287:R1109L	R	+	2	0	CEP135	56585429	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.130000	0.77235	2.664000	0.90586	0.650000	0.86243	CGA	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362092.2		+	ENST00000257287.4	Missense_Mutation	SNP	4 : 56890672 - 56890672 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1268	11
CEP57L1	285753	broad.mit.edu	37	6	109480272	109480272	+	Silent	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:109480272A>G	ENST00000368968.2	+	8	848	c.789A>G	c.(787-789)tcA>tcG	p.S263S	CEP57L1_ENST00000336977.4_Silent_p.S187S|CEP57L1_ENST00000523787.1_Silent_p.S266S|CEP57L1_ENST00000359793.3_Silent_p.S263S|CEP57L1_ENST00000521522.1_Silent_p.S234S|CEP57L1_ENST00000368970.2_Silent_p.S263S|CEP57L1_ENST00000407272.1_Silent_p.S263S|CEP57L1_ENST00000517392.1_Silent_p.S263S|CEP57L1_ENST00000520883.1_Silent_p.S187S			Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	263						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAATTTGTTCAAAGTTTGGAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	73	72			NA	NA	6		NA											NA				109480272		2203	4300	6503	SO:0001819	synonymous_variant			AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137	285753	285753			21561	protein-coding gene	gene with protein product			chromosome 6 open reading frame 182	C6orf182	NA		Standard	NM_173830	NM_001083535	NA	Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000368968.2:c.789A>G	6.37:g.109480272A>G		NA		37																																																																																				CEP57L1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000377078.1		+	ENST00000368968.2	Silent	SNP	6 : 109480272 - 109480272 G PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	856	10
CHRNB4	1143	broad.mit.edu	37	15	78927852	78927852	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:78927852G>T	ENST00000412074.2	-	2	244	c.133C>A	c.(133-135)Cgc>Agc	p.R45S	CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000261751.3_Missense_Mutation_p.R45S	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	45					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GTGGCTGGGCGGATCAGGTTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	203	207			NA	NA	15		NA											NA				78927852		2196	4293	6489	SO:0001583	missense			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971	1143	1143		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1964	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, beta 4 (neuronal)	118509	cholinergic receptor, nicotinic, beta polypeptide 4		NA	2004777	Standard		NM_000750	NA	Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000412074.2:c.133C>A	15.37:g.78927852G>T	ENSP00000416386:p.Arg45Ser	NA	Q16607|Q4VBA5|Q8WXC8|Q9BQR4	37	CCDS58392.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802420	0.70682	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	D;D	0.82893	-1.66;-1.66	3.98	3.98	0.46160	Neurotransmitter-gated ion-channel ligand-binding (3);	0.074052	0.53938	D	0.000053	D	0.94653	0.8276	H	0.98466	4.24	0.49798	D	0.999829	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.97131	0.9818	10	0.87932	D	0	.	16.1772	0.81858	0.0:0.0:1.0:0.0	.	45;45	E9PHE8;P30926	.;ACHB4_HUMAN	S	45	ENSP00000261751:R45S;ENSP00000416386:R45S	ENSP00000261751:R45S	R	-	1	0	CHRNB4	76714907	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.391000	0.66266	1.797000	0.52628	0.430000	0.28490	CGC	CHRNB4-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418869.1		-	ENST00000412074.2	Missense_Mutation	SNP	15 : 78927852 - 78927852 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	925	9
CKAP5	9793	broad.mit.edu	37	11	46831366	46831366	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:46831366C>A	ENST00000529230.1	-	6	735	c.689G>T	c.(688-690)cGa>cTa	p.R230L	CKAP5_ENST00000415402.1_Missense_Mutation_p.R230L|CKAP5_ENST00000354558.3_Missense_Mutation_p.R230L|CKAP5_ENST00000312055.5_Missense_Mutation_p.R230L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	230					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACGAAGAAATCGAGTAGGTCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(4;85 273 2202 4844 13323)							NA				0													173	163	166			NA	NA	11		NA											NA				46831366		2201	4299	6500	SO:0001583	missense				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216	9793	9793			28959	protein-coding gene	gene with protein product		611142			NA	7788527, 8536682	Standard	NM_014756	NM_014756	NA	Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.689G>T	11.37:g.46831366C>A	ENSP00000432768:p.Arg230Leu	NA	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	37	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149258	0.94645	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.86805	2.84	0.80722	D	1	D;B;D	0.76494	0.992;0.288;0.999	D;B;D	0.80764	0.979;0.186;0.994	T	0.78481	-0.2187	10	0.87932	D	0	-18.8626	19.9844	0.97341	0.0:1.0:0.0:0.0	.	230;230;230	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	230	ENSP00000432768:R230L;ENSP00000395302:R230L;ENSP00000310227:R230L;ENSP00000346566:R230L	ENSP00000310227:R230L	R	-	2	0	CKAP5	46787942	1.000000	0.71417	0.194000	0.23346	0.820000	0.46376	7.397000	0.79903	2.724000	0.93272	0.650000	0.86243	CGA	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390679.1		-	ENST00000529230.1	Missense_Mutation	SNP	11 : 46831366 - 46831366 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	845	10
CNRIP1	25927	broad.mit.edu	37	2	68544303	68544303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:68544303G>A	ENST00000409862.1	-	3	497	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000263655.3_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*			Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	106							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATGGTGATCTGGATGGGTTGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	161	170			NA	NA	2		NA											NA				68544303		2203	4300	6503	SO:0001587	stop_gained			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865	25927	25927			24546	protein-coding gene	gene with protein product			chromosome 2 open reading frame 32	C2orf32	NA	12477932	Standard	NM_015463	NM_015463	NA	Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000409862.1:c.316C>T	2.37:g.68544303G>A	ENSP00000386544:p.Gln106*	NA	B2R4D0|Q49AN4|Q9UFZ0	37		.	.	.	.	.	.	.	.	.	.	G	37	6.464642	0.97590	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.3606	17.0178	0.86424	0.0:0.0:1.0:0.0	.	.	.	.	X	106	.	ENSP00000263655:Q106X	Q	-	1	0	CNRIP1	68397807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.967000	0.93402	2.697000	0.92050	0.555000	0.69702	CAG	CNRIP1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326819.2		-	ENST00000409862.1	Nonsense_Mutation	SNP	2 : 68544303 - 68544303 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	853	9
CNTNAP1	8506	broad.mit.edu	37	17	40837398	40837398	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:40837398C>A	ENST00000264638.4	+	5	892	c.675C>A	c.(673-675)ctC>ctA	p.L225L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	225	Laminin G-like 1.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACGTGACGCTCGAGCTGGAGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	54	57			NA	NA	17		NA											NA				40837398		2203	4300	6503	SO:0001819	synonymous_variant			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797	8506	8506			8011	protein-coding gene	gene with protein product	neurexin 4	602346		NRXN4	NA	9118959	Standard	NM_003632	NM_003632	NA	Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.675C>A	17.37:g.40837398C>A		NA		37	CCDS11436.1																																																																																			CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452342.1		+	ENST00000264638.4	Silent	SNP	17 : 40837398 - 40837398 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	235	16
COL6A5	256076	broad.mit.edu	37	3	130174477	130174477	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:130174477C>A	ENST00000265379.6	+	37	7251	c.6757C>A	c.(6757-6759)Caa>Aaa	p.Q2253K	COL6A5_ENST00000432398.2_Missense_Mutation_p.Q2253K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2253	Nonhelical region.				axon guidance|cell adhesion	collagen		p.Q292K(1)|p.Q2253K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGAAAAAGATCAAAAATCTGC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)											49	48	49			NA	NA	3		NA											NA				130174477		1804	4064	5868	SO:0001583	missense			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752	256076	256076		Collagens	26674	protein-coding gene	gene with protein product	von Willebrand factor A domain containing 4	611916	collagen, type XXIX, alpha 1	COL29A1	NA	17850181	Standard	NM_153264	NM_153264	NA	Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000265379.6:c.6757C>A	3.37:g.130174477C>A	ENSP00000265379:p.Gln2253Lys	NA	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.821|3.821	-0.037685|-0.037685	0.07497|0.07497	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88818|.	-2.34;-2.43;-0.87;-0.75|.	4.26|4.26	0.026|0.026	0.14148|0.14148	.|.	2.119150|.	0.02670|.	N|.	0.108475|.	T|.	0.21841|.	0.0526|.	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|.	0.30031|.	-0.9992|.	10|.	0.02654|.	T|.	1|.	.|.	8.2937|8.2937	0.31973|0.31973	0.3027:0.5542:0.1431:0.0|0.3027:0.5542:0.1431:0.0	.|.	2253;2253|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	K|X	2253;2253;196;88|504	ENSP00000390895:Q2253K;ENSP00000265379:Q2253K;ENSP00000362250:Q196K;ENSP00000424968:Q88K|.	ENSP00000265379:Q2253K|.	Q|S	+|+	1|2	0|0	COL6A5|COL6A5	131657167|131657167	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.464000|-0.464000	0.06688|0.06688	0.170000|0.170000	0.19704|0.19704	-0.846000|-0.846000	0.03041|0.03041	CAA|TCA	COL6A5-201	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000265379.6	Missense_Mutation	SNP	3 : 130174477 - 130174477 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	321	8
COX7A2	1347	broad.mit.edu	37	6	75950955	75950955	+	Silent	SNP	C	C	A	rs139079443		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:75950955C>A	ENST00000509698.1	-	2	105	c.45G>T	c.(43-45)acG>acT	p.T15T	COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000370081.2_Silent_p.T47T|COX7A2_ENST00000230459.4_Silent_p.T15T|COX7A2_ENST00000472311.2_Silent_p.T15T			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	15						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	p.T15T(1)		kidney(2)|lung(1)	3						CAGTGCTTATCGTCCTCTGCC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											89	101	97			NA	NA	6		NA											NA				75950955		2203	4300	6503	SO:0001819	synonymous_variant			X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1347	1347	1.9.3.1	Mitochondrial respiratory chain complex / Complex IV	2288	protein-coding gene	gene with protein product		123996			NA	1327965, 9202412	Standard	NM_001865	NM_001865	NA	Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000509698.1:c.45G>T	6.37:g.75950955C>A		NA	B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	37																																																																																				COX7A2-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365879.1		-	ENST00000509698.1	Silent	SNP	6 : 75950955 - 75950955 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	846	11
CSDE1	7812	broad.mit.edu	37	1	115282502	115282502	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115282502C>A	ENST00000530886.1	-	3	490				CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y|CSDE1_ENST00000358528.4_Missense_Mutation_p.D4Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000438362.2_Missense_Mutation_p.D50Y			O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	NA					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTTTGGATCAAAGCTCATC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	233	230			NA	NA	1		NA											NA				115282502		2203	4300	6503	SO:0001627	intron_variant				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307	7812	7812			29905	protein-coding gene	gene with protein product	upstream of NRAS	191510			NA	2204029, 10048485	Standard	NM_007158	NM_007158	NA	Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000530886.1:c.98-1809G>T	1.37:g.115282502C>A		NA	A8K281|O94961|Q5TF04|Q5TF05|Q68DI9|Q9Y2S4	37		.	.	.	.	.	.	.	.	.	.	C	18.77	3.695537	0.68386	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699;ENST00000534389;ENST00000525878;ENST00000525970	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.71167	-0.4672	9	0.87932	D	0	-4.3184	20.4324	0.99085	0.0:1.0:0.0:0.0	.	50;4;50	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	Y	4;50;4;4;50;4;4;4;4	.	ENSP00000261443:D4Y	D	-	1	0	CSDE1	115084025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	GAT	CSDE1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392607.1		-	ENST00000530886.1	Intron	SNP	1 : 115282502 - 115282502 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1384	16
CSMD3	114788	broad.mit.edu	37	8	113256691	113256691	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:113256691G>A	ENST00000297405.5	-	65	10578	c.10334C>T	c.(10333-10335)gCa>gTa	p.A3445V	CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3445	Sushi 28.					integral to membrane|plasma membrane		p.A3445V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTCCACCTGCTAAGAAGAA	0.423		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											132	116	121			NA	NA	8		NA											NA				113256691		2203	4300	6503	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10334C>T	8.37:g.113256691G>A	ENSP00000297405:p.Ala3445Val	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522882	0.85600	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.37	4.5	0.54988	Complement control module (2);Sushi/SCR/CCP (3);	0.171297	0.39615	N	0.001317	T	0.55800	0.1943	N	0.10618	0.005	0.43896	D	0.996523	P;P;D	0.58970	0.532;0.65;0.984	B;B;P	0.59171	0.356;0.428;0.853	T	0.56768	-0.7924	10	0.25106	T	0.35	.	14.1728	0.65522	0.0714:0.0:0.9286:0.0	.	3276;3445;3405	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3405;3445;2715;3276;3375	ENSP00000345799:A3405V;ENSP00000297405:A3445V;ENSP00000341558:A2715V;ENSP00000412263:A3276V;ENSP00000343124:A3375V	ENSP00000297405:A3445V	A	-	2	0	CSMD3	113325867	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.554000	0.82212	1.508000	0.48769	-0.229000	0.12294	GCA	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113256691 - 113256691 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	588	57
CST11	140880	broad.mit.edu	37	20	23433311	23433311	+	Missense_Mutation	SNP	G	G	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:23433311G>C	ENST00000377009.3	-	1	171	c.138C>G	c.(136-138)gaC>gaG	p.D46E	CST11_ENST00000377007.3_Missense_Mutation_p.D46E	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	184	193			NA	NA	20		NA											NA				23433311		2203	4300	6503	SO:0001583	missense			AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831	140880	140880			15959	protein-coding gene	gene with protein product		609731		CST8L	NA	20565543	Standard	NM_130794	NM_080830	NA	Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.138C>G	20.37:g.23433311G>C	ENSP00000366208:p.Asp46Glu	NA	Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	37	CCDS13155.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315401	0.01331	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	T;T	0.20881	2.04;2.04	3.86	-7.72	0.01250	Proteinase inhibitor I25, cystatin (2);	1.801240	0.02192	N	0.061416	T	0.07188	0.0182	N	0.12182	0.205	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.18871	0.023;0.022	T	0.32903	-0.9889	10	0.02654	T	1	-0.6315	0.5297	0.00626	0.3409:0.2761:0.1774:0.2056	.	46;46	Q9H112-2;Q9H112	.;CST11_HUMAN	E	46	ENSP00000366208:D46E;ENSP00000366206:D46E	ENSP00000366206:D46E	D	-	3	2	CST11	23381311	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.747000	0.04823	-1.825000	0.01207	-0.142000	0.14014	GAC	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078314.1		-	ENST00000377009.3	Missense_Mutation	SNP	20 : 23433311 - 23433311 C PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	733	10
CTCFL	140690	broad.mit.edu	37	20	56094287	56094287	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56094287G>A	ENST00000608263.1	-	3	1562	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000608903.1_Missense_Mutation_p.R39W|CTCFL_ENST00000423479.3_Missense_Mutation_p.R301W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000608158.1_Missense_Mutation_p.R301W|CTCFL_ENST00000609232.1_Missense_Mutation_p.R301W|CTCFL_ENST00000481655.2_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000433949.3_Missense_Mutation_p.R96W|CTCFL_ENST00000608440.1_Missense_Mutation_p.R301W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000429804.3_Missense_Mutation_p.R301W|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608425.1_Missense_Mutation_p.R301W	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	NA					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACATGGTTCCGCAGCAGAGTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	95	95			NA	NA	20		NA											NA				56094287		2203	4300	6503	SO:0001583	missense				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092	140690	140690		Zinc fingers, C2H2-type	16234	protein-coding gene	gene with protein product	cancer/testis antigen 27	607022			NA		Standard	NM_080618	NM_001269040	NA	Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.901C>T	20.37:g.56094287G>A	ENSP00000476783:p.Arg301Trp	NA	Q5JUG4|Q9BZ30|Q9NQJ3	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238725	0.39598	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	5.25	0.582	0.17412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001079	T	0.25531	0.0621	M	0.69523	2.12	0.38434	D	0.946527	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0;1.0;1.0;1.0	T	0.10847	-1.0612	10	0.72032	D	0.01	-42.7671	14.3281	0.66534	0.0:0.0:0.3805:0.6195	.	301;301;301;301;301;301;301;301	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	W	301;301;301;301;301;39;301;301;301;96;301	ENSP00000415579:R301W;ENSP00000243914:R301W;ENSP00000360239:R301W;ENSP00000415329:R301W;ENSP00000392034:R301W;ENSP00000437999:R39W;ENSP00000413713:R301W;ENSP00000403369:R301W;ENSP00000409344:R301W;ENSP00000439998:R96W;ENSP00000399061:R301W	ENSP00000243914:R301W	R	-	1	2	CTCFL	55527693	0.611000	0.26992	0.073000	0.20177	0.072000	0.16883	0.855000	0.27805	0.255000	0.21593	-0.293000	0.09583	CGG	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000472040.1		-	ENST00000608263.1	Missense_Mutation	SNP	20 : 56094287 - 56094287 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	493	6
CTSC	1075	broad.mit.edu	37	11	88029368	88029368	+	Silent	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:88029368T>C	ENST00000227266.5	-	6	936	c.822A>G	c.(820-822)ctA>ctG	p.L274L		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	274					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATTGTTGGTTAGTATACGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	137	138			NA	NA	11		NA											NA				88029368		2201	4299	6500	SO:0001819	synonymous_variant			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	1075	1075	3.4.14.1	Cathepsins	2528	protein-coding gene	gene with protein product	dipeptidyl peptidase 1	602365		PLS, PALS	NA	7649281, 9092576	Standard	NM_001814	NM_148170	NA	Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.822A>G	11.37:g.88029368T>C		NA	A8K7V2|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	37	CCDS8282.1																																																																																			CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394019.2		-	ENST00000227266.5	Silent	SNP	11 : 88029368 - 88029368 C PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	535	54
DARS	1615	broad.mit.edu	37	2	136673918	136673918	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:136673918C>A	ENST00000264161.4	-	11	1199	c.984G>T	c.(982-984)gtG>gtT	p.V328V	DARS_ENST00000537273.1_Silent_p.V228V	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	328					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACTGTTTATTCACTGTTTGAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	125	126			NA	NA	2		NA											NA				136673918		2203	4300	6503	SO:0001819	synonymous_variant			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	1615	1615	6.1.1.12	Aminoacyl tRNA synthetases / Class II	2678	protein-coding gene	gene with protein product	aspartate tRNA ligase 1, cytoplasmic	603084			NA	2674137	Standard	NM_001349	NM_001349	NA	Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.984G>T	2.37:g.136673918C>A		NA	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q9BW52	37	CCDS2180.1																																																																																			DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254660.5		-	ENST00000264161.4	Silent	SNP	2 : 136673918 - 136673918 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	766	11
DCDC2	51473	broad.mit.edu	37	6	24205358	24205358	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:24205358C>A	ENST00000378450.3	-	1	173	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	DCDC2_ENST00000378454.3_Intron			Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	0	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CAGTGAAAATCAAAATCCAAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	121	122			NA	NA	6		NA											NA				24205358		2203	4299	6502	SO:0001583	missense			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038	51473	51473			18141	protein-coding gene	gene with protein product		605755			NA	10601354, 10574461	Standard	NM_016356	NM_001195610	NA	Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378450.3:c.154G>T	6.37:g.24205358C>A	ENSP00000367711:p.Asp52Tyr	NA	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	37		.	.	.	.	.	.	.	.	.	.	C	12.08	1.830278	0.32329	.	.	ENSG00000146038	ENST00000378450	T	0.50813	0.73	6.07	0.246	0.15516	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.16289	0.015	T	0.33033	-0.9884	7	.	.	.	.	4.5225	0.11966	0.4248:0.3732:0.0962:0.1058	.	52	Q9UHG0-2	.	Y	52	ENSP00000367711:D52Y	.	D	-	1	0	DCDC2	24313337	0.305000	0.24481	0.640000	0.29408	0.917000	0.54804	-0.294000	0.08309	0.091000	0.17302	0.655000	0.94253	GAT	DCDC2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000043605.1		-	ENST00000378450.3	Missense_Mutation	SNP	6 : 24205358 - 24205358 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	450	9
DDHD1	80821	broad.mit.edu	37	14	53518604	53518604	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:53518604G>T	ENST00000323669.5	-	12	2478	c.2479C>A	c.(2479-2481)Ctt>Att	p.L827I	DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	827	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCCGGAAAAAGAAGTTGTGGG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	70	73			NA	NA	14		NA											NA				53518604		1566	3579	5145	SO:0001583	missense			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523	NA	80821			19714	protein-coding gene	gene with protein product	phosphatidic acid-preferring phospholipase A1	614603	spastic paraplegia 28 (autosomal recessive)	SPG28	NA	11214970, 20359546	Standard		NM_030637	NA	Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2479C>A	14.37:g.53518604G>T	ENSP00000327104:p.Leu827Ile	NA	Q8WVH3|Q96LL2|Q9C0F8	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135008	0.56828	.	.	ENSG00000100523	ENST00000323669;ENST00000395610	.	.	.	6.07	5.19	0.71726	DDHD (2);	0.301493	0.30969	N	0.008510	T	0.36413	0.0966	N	0.08118	0	0.80722	D	1	P	0.38048	0.616	B	0.42738	0.396	T	0.28138	-1.0053	9	0.31617	T	0.26	-10.4012	11.0964	0.48147	0.084:0.0:0.916:0.0	.	827	Q8NEL9	DDHD1_HUMAN	I	827;698	.	ENSP00000327104:L827I	L	-	1	0	DDHD1	52588354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.931000	0.48932	1.582000	0.49881	0.655000	0.94253	CTT	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276901.1		-	ENST00000323669.5	Missense_Mutation	SNP	14 : 53518604 - 53518604 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	97	22
DLK2	65989	broad.mit.edu	37	6	43418947	43418947	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:43418947C>T	ENST00000357338.3	-	6	1182	c.482G>A	c.(481-483)cGc>cAc	p.R161H	DLK2_ENST00000372488.3_Missense_Mutation_p.R161H|DLK2_ENST00000372485.1_Missense_Mutation_p.R155H|DLK2_ENST00000414245.1_Missense_Mutation_p.R155H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	161	EGF-like 4.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCAAGCAGCGGCACGTGAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	54	62			NA	NA	6		NA											NA				43418947		2203	4300	6503	SO:0001583	missense			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462	65989	65989			21113	protein-coding gene	gene with protein product			EGF-like-domain, multiple 9	EGFL9	NA		Standard	NM_023932	NM_001286656	NA	Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.482G>A	6.37:g.43418947C>T	ENSP00000349893:p.Arg161His	NA	B3KNZ7|Q5T3T8|Q9BQ54	37	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.542004|3.542004	0.65198|0.65198	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.87809	.|-2.3;-2.3;-2.3;-2.3	4.51|4.51	4.51|4.51	0.55191|0.55191	.|Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67297|0.67297	0.2878|0.2878	N|N	0.21373|0.21373	0.66|0.66	0.46167|0.46167	D|D	0.998909|0.998909	.|P	.|0.51240	.|0.943	.|B	.|0.40410	.|0.328	T|T	0.68655|0.68655	-0.5351|-0.5351	5|10	.|0.19147	.|T	.|0.46	.|.	12.2573|12.2573	0.54631|0.54631	0.0:0.9171:0.0:0.0829|0.0:0.9171:0.0:0.0829	.|.	.|161	.|Q6UY11	.|DLK2_HUMAN	T|H	67|155;161;161;155	.|ENSP00000361563:R155H;ENSP00000361566:R161H;ENSP00000349893:R161H;ENSP00000398906:R155H	.|ENSP00000349893:R161H	A|R	-|-	1|2	0|0	DLK2|DLK2	43526925|43526925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	2.486000|2.486000	0.45259|0.45259	2.507000|2.507000	0.84556|0.84556	0.455000|0.455000	0.32223|0.32223	GCT|CGC	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040618.1		-	ENST00000357338.3	Missense_Mutation	SNP	6 : 43418947 - 43418947 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	169	6
DPH1	1801	broad.mit.edu	37	17	1943116	1943116	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:1943116C>A	ENST00000263083.6	+	7	808	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	DPH1_ENST00000570477.1_Splice_Site_p.R175R	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	255					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCCGCTTACCGGTATGGGCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	97	94			NA	NA	17		NA											NA				1943116		1994	4158	6152	SO:0001630	splice_region_variant			S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963	1801	1801			3003	protein-coding gene	gene with protein product	ovarian tumor suppressor candidate 1	603527	diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae), DPH-like 1 (S. cerevisiae), DPH1 homolog (S. cerevisiae)	DPH2L, DPH2L1	NA	8603384, 15485916, 22869748	Standard	NM_001383	NM_001383	NA	Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.764+1C>A	17.37:g.1943116C>A		NA	D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	37	CCDS42228.1																																																																																			DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438660.1	Silent	+	ENST00000263083.6	Splice_Site	SNP	17 : 1943116 - 1943116 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	497	8
ECT2	1894	broad.mit.edu	37	3	172473162	172473162	+	Missense_Mutation	SNP	A	A	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:172473162A>C	ENST00000417960.1	+	4	682	c.205A>C	c.(205-207)Aag>Cag	p.K69Q	ECT2_ENST00000232458.5_Missense_Mutation_p.K70Q|ECT2_ENST00000392692.3_Missense_Mutation_p.K70Q|ECT2_ENST00000427830.1_Missense_Mutation_p.K70Q|ECT2_ENST00000441497.2_Missense_Mutation_p.K70Q|ECT2_ENST00000540509.1_Missense_Mutation_p.K70Q	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	70					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)			AAAAGCCTTAAAGGTACGGAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	104	101			NA	NA	3		NA											NA				172473162		2203	4298	6501	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.205A>C	3.37:g.172473162A>C	ENSP00000415876:p.Lys69Gln	NA	Q2M269|Q9NSV8|Q9NVW9	37		.	.	.	.	.	.	.	.	.	.	A	5.267	0.234752	0.09969	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.02;-0.19;-0.04;-0.02;0.97;0.93;0.87;1.01;0.87;-0.02;-0.19	5.58	3.14	0.36123	.	0.162995	0.56097	N	0.000021	T	0.31949	0.0813	N	0.11560	0.145	0.32649	N	0.51964	B;B;B;B	0.16166	0.005;0.015;0.001;0.016	B;B;B;B	0.20184	0.008;0.028;0.011;0.006	T	0.34576	-0.9823	10	0.02654	T	1	-6.7187	3.8864	0.09100	0.5385:0.1802:0.2813:0.0	.	70;70;70;69	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	Q	70;70;70;69;69;70;70;70;70;70;70	ENSP00000232458:K70Q;ENSP00000376457:K70Q;ENSP00000401910:K70Q;ENSP00000415876:K69Q;ENSP00000403501:K69Q;ENSP00000412331:K70Q;ENSP00000403446:K70Q;ENSP00000412028:K70Q;ENSP00000389108:K70Q;ENSP00000412259:K70Q;ENSP00000443160:K70Q	ENSP00000232458:K70Q	K	+	1	0	ECT2	173955856	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	1.277000	0.33167	0.384000	0.24942	0.402000	0.26972	AAG	ECT2-004	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000345995.3		+	ENST00000417960.1	Missense_Mutation	SNP	3 : 172473162 - 172473162 C PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	310	33
EGF	1950	broad.mit.edu	37	4	110885582	110885582	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:110885582C>A	ENST00000509793.1	+	9	1790	c.1338C>A	c.(1336-1338)gcC>gcA	p.A446A	EGF_ENST00000265171.5_Silent_p.A488A|EGF_ENST00000503392.1_Silent_p.A488A	NM_001178131.1	NP_001171602.1	P01133	EGF_HUMAN	epidermal growth factor	488	EGF-like 4.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGCTGTTTGCCAATTCTCAAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	191	197			NA	NA	4		NA											NA				110885582		2203	4300	6503	SO:0001819	synonymous_variant			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798	1950	1950			3229	protein-coding gene	gene with protein product		131530	epidermal growth factor (beta-urogastrone)		NA		Standard		NM_001963	NA	Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000509793.1:c.1338C>A	4.37:g.110885582C>A		NA	B4DRK7|E9PBF0|Q52LZ6	37	CCDS54795.1																																																																																			EGF-002	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363798.2		+	ENST00000509793.1	Silent	SNP	4 : 110885582 - 110885582 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	839	10
EMC1	23065	broad.mit.edu	37	1	19567555	19567555	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:19567555C>A	ENST00000477853.1	-	6	633	c.591G>T	c.(589-591)gtG>gtT	p.V197V	EMC1_ENST00000375199.3_Silent_p.V197V|EMC1_ENST00000375208.3_Silent_p.V175V	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1	NA											NA						TGACAATGTTCACATGGCTGA	0.502		NA									OREG0013169	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													154	153	154			NA	NA	1		NA											NA				19567555		2203	4300	6503	SO:0001819	synonymous_variant				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463	23065	23065			28957	protein-coding gene	gene with protein product			KIAA0090	KIAA0090	NA	22119785	Standard	NM_015047	NM_015047	NA	Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.591G>T	1.37:g.19567555C>A		734		37	CCDS190.1																																																																																			EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007076.2		-	ENST00000477853.1	Silent	SNP	1 : 19567555 - 19567555 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	655	17
EPSTI1	94240	broad.mit.edu	37	13	43491691	43491691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:43491691C>A	ENST00000313640.7	-	9	824	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	EPSTI1_ENST00000313624.7_Nonsense_Mutation_p.E243*|EPSTI1_ENST00000398762.3_Nonsense_Mutation_p.E254*	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	254										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TGATGTTGTTCATCCTTCATC	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													313	297	303			NA	NA	13		NA											NA				43491691		2203	4300	6503	SO:0001587	stop_gained			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106	94240	94240			16465	protein-coding gene	gene with protein product	epithelial stromal interaction protein 1	607441			NA	11991720	Standard	NM_001002264	NM_033255	NA	Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000313640.7:c.760G>T	13.37:g.43491691C>A	ENSP00000318982:p.Glu254*	NA	Q8IVC7|Q8NDQ7	37	CCDS31964.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440564	0.96168	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	.	.	.	4.85	4.85	0.62838	.	0.092687	0.46758	D	0.000266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-10.3109	15.1843	0.72986	0.0:1.0:0.0:0.0	.	.	.	.	X	254;243;254	.	ENSP00000318643:E243X	E	-	1	0	EPSTI1	42389691	0.950000	0.32346	0.202000	0.23494	0.338000	0.28826	1.745000	0.38278	2.674000	0.91012	0.655000	0.94253	GAA	EPSTI1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276154.2		-	ENST00000313640.7	Nonsense_Mutation	SNP	13 : 43491691 - 43491691 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1559	16
EXOC2	55770	broad.mit.edu	37	6	549213	549213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:549213C>A	ENST00000230449.4	-	22	2335	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	734					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGTGCTTTTCAAAATGTTCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	197	201			NA	NA	6		NA											NA				549213		2203	4300	6503	SO:0001587	stop_gained			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685	55770	55770			24968	protein-coding gene	gene with protein product		615329	SEC5-like 1 (S. cerevisiae)	SEC5L1	NA	12575951, 12459492	Standard	NM_018303	NM_018303	NA	Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2200G>T	6.37:g.549213C>A	ENSP00000230449:p.Glu734*	NA	Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	37	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	41	9.092450	0.99062	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	.	.	.	5.41	5.41	0.78517	.	0.047763	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-11.731	19.1915	0.93669	0.0:1.0:0.0:0.0	.	.	.	.	X	734;329	.	ENSP00000230449:E734X	E	-	1	0	EXOC2	494213	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.004000	0.76317	2.515000	0.84797	0.655000	0.94253	GAA	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039627.1		-	ENST00000230449.4	Nonsense_Mutation	SNP	6 : 549213 - 549213 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	671	12
EXPH5	23086	broad.mit.edu	37	11	108381503	108381503	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:108381503G>T	ENST00000265843.4	-	6	4841	c.4731C>A	c.(4729-4731)acC>acA	p.T1577T	EXPH5_ENST00000428840.1_Silent_p.T1501T|EXPH5_ENST00000443411.1_Silent_p.T1389T|EXPH5_ENST00000525344.1_Silent_p.T1570T	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1577					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCAAGTTGGTTTTATTTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	154	158			NA	NA	11		NA											NA				108381503		2201	4298	6499	SO:0001819	synonymous_variant				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723	23086	23086			30578	protein-coding gene	gene with protein product	synaptotagmin-like homologue lacking C2 domains b	612878			NA	9734811, 11773082	Standard	NM_015065	NM_015065	NA	Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4731C>A	11.37:g.108381503G>T		NA		37	CCDS8341.1																																																																																			EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390279.1		-	ENST00000265843.4	Silent	SNP	11 : 108381503 - 108381503 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	841	10
FAM179B	23116	broad.mit.edu	37	14	45475240	45475240	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:45475240C>A	ENST00000361462.2	+	5	2857	c.2674C>A	c.(2674-2676)Cag>Aag	p.Q892K	FAM179B_ENST00000382233.2_Missense_Mutation_p.Q892K|FAM179B_ENST00000361577.3_Missense_Mutation_p.Q892K|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	892							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACCTCCAGTTCAGCTTACACC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	86	86			NA	NA	14		NA											NA				45475240		2203	4300	6503	SO:0001583	missense			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718	23116	23116			19959	protein-coding gene	gene with protein product			KIAA0423	KIAA0423	NA		Standard	XM_113781	XM_005267451	NA	Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361462.2:c.2674C>A	14.37:g.45475240C>A	ENSP00000354917:p.Gln892Lys	NA	Q68D66|Q6PG27	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.440826|4.440826	0.83993|0.83993	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000557250|ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	.|T;T;T	.|0.32515	.|2.71;2.7;1.45	5.39|5.39	4.49|4.49	0.54785|0.54785	.|Armadillo-type fold (1);	.|0.423728	.|0.22562	.|N	.|0.058445	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.29908|0.29908	0.895|0.895	0.31755|0.31755	N|N	0.63409|0.63409	.|D;D;D	.|0.62365	.|0.991;0.979;0.979	.|P;P;P	.|0.56563	.|0.725;0.801;0.801	T|T	0.35076|0.35076	-0.9803|-0.9803	5|10	.|0.23302	.|T	.|0.38	-4.6402|-4.6402	15.8279|15.8279	0.78727|0.78727	0.0:0.8634:0.1366:0.0|0.0:0.8634:0.1366:0.0	.|.	.|892;892;892	.|G3XAE9;Q9Y4F4;Q9Y4F4-2	.|.;F179B_HUMAN;.	L|K	83|892	.|ENSP00000355045:Q892K;ENSP00000354917:Q892K;ENSP00000371668:Q892K	.|ENSP00000354917:Q892K	F|Q	+|+	3|1	2|0	FAM179B|FAM179B	44544990|44544990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.803000|3.803000	0.55560|0.55560	1.271000|1.271000	0.44313|0.44313	0.558000|0.558000	0.71614|0.71614	TTC|CAG	FAM179B-002	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000276792.1		+	ENST00000361462.2	Missense_Mutation	SNP	14 : 45475240 - 45475240 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	575	11
FAM208B	54906	broad.mit.edu	37	10	5789164	5789164	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:5789164C>A	ENST00000328090.5	+	15	4405	c.3780C>A	c.(3778-3780)atC>atA	p.I1260I		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1260											NA						CAGTATTTATCAAACAAACAA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	72	71			NA	NA	10		NA											NA				5789164		1881	4115	5996	SO:0001819	synonymous_variant			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021	54906	54906			23484	protein-coding gene	gene with protein product			chromosome 10 open reading frame 18	C10orf18	NA	12477932	Standard	NM_017782	NM_017782	NA	Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3780C>A	10.37:g.5789164C>A		NA	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	37	CCDS41485.1																																																																																			FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046571.2		+	ENST00000328090.5	Silent	SNP	10 : 5789164 - 5789164 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	513	14
FH	2271	broad.mit.edu	37	1	241665755	241665755	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:241665755G>T	ENST00000366560.3	-	8	1262	c.1224C>A	c.(1222-1224)ttC>ttA	p.F408L		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	408					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCATTGGCTTGAAAACATTCA	0.393		NA	Mis, N, F			lieomyomatosis, renal			Hereditary Leiomyomatosis and Renal Cell Cancer					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		E, M	0													69	62	64			NA	NA	1		NA											NA				241665755		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	2271	2271	4.2.1.2		3700	protein-coding gene	gene with protein product		136850			NA		Standard	NM_000143	NM_000143	NA	Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1224C>A	1.37:g.241665755G>T	ENSP00000355518:p.Phe408Leu	NA		37	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099784	0.56183	.	.	ENSG00000091483	ENST00000366560	D	0.90563	-2.69	5.61	2.71	0.32032	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	M	0.92604	3.325	0.80722	D	1	B	0.33413	0.411	B	0.35312	0.2	D	0.88900	0.3352	10	0.87932	D	0	-28.1888	8.595	0.33710	0.2566:0.0:0.7434:0.0	.	408	P07954	FUMH_HUMAN	L	408	ENSP00000355518:F408L	ENSP00000355518:F408L	F	-	3	2	FH	239732378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.979000	0.40608	0.311000	0.23014	-0.140000	0.14226	TTC	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095490.1		-	ENST00000366560.3	Missense_Mutation	SNP	1 : 241665755 - 241665755 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	398	8
FLNC	2318	broad.mit.edu	37	7	128491395	128491395	+	Silent	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:128491395C>G	ENST00000325888.8	+	34	5910	c.5649C>G	c.(5647-5649)gtC>gtG	p.V1883V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.V1850V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1883					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACTATTGTCACCAAAGATG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	59	57			NA	NA	7		NA											NA				128491395		2141	4263	6404	SO:0001819	synonymous_variant			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5649C>G	7.37:g.128491395C>G		NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1																																																																																			FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Silent	SNP	7 : 128491395 - 128491395 G PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	291	5
FREM2	341640	broad.mit.edu	37	13	39451286	39451286	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:39451286G>T	ENST00000280481.7	+	21	8793	c.8577G>T	c.(8575-8577)ttG>ttT	p.L2859F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2859					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTTAGCTTGAACACCCAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													279	243	255			NA	NA	13		NA											NA				39451286		2203	4300	6503	SO:0001583	missense			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893	341640	341640			25396	protein-coding gene	gene with protein product		608945			NA	15345741	Standard	NM_207361	NM_207361	NA	Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8577G>T	13.37:g.39451286G>T	ENSP00000280481:p.Leu2859Phe	NA	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700345	0.68501	.	.	ENSG00000150893	ENST00000280481	T	0.66995	-0.24	5.92	3.07	0.35406	.	0.000000	0.64402	D	0.000003	D	0.82999	0.5159	M	0.89095	3.005	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.85672	0.1295	10	0.87932	D	0	.	12.8854	0.58040	0.0:0.454:0.428:0.1181	.	2859	Q5SZK8	FREM2_HUMAN	F	2859	ENSP00000280481:L2859F	ENSP00000280481:L2859F	L	+	3	2	FREM2	38349286	0.987000	0.35691	1.000000	0.80357	0.972000	0.66771	0.140000	0.16056	0.821000	0.34540	0.467000	0.42956	TTG	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044599.2		+	ENST00000280481.7	Missense_Mutation	SNP	13 : 39451286 - 39451286 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1074	14
FYCO1	79443	broad.mit.edu	37	3	46003868	46003868	+	Nonsense_Mutation	SNP	C	C	A	rs148106976		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:46003868C>A	ENST00000296137.2	-	11	3491	c.3286G>T	c.(3286-3288)Gaa>Taa	p.E1096*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E1096*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1096					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGGCTTTTTCGAGTTCCTTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	235	232			NA	NA	3		NA											NA				46003868		2203	4300	6503	SO:0001587	stop_gained			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820	79443	79443		Zinc fingers, FYVE domain containing	14673	protein-coding gene	gene with protein product		607182			NA	11896456	Standard	NM_024513	NM_024513	NA	Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3286G>T	3.37:g.46003868C>A	ENSP00000296137:p.Glu1096*	NA	Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	42	9.285028	0.99125	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	.	.	.	5.91	2.19	0.27852	.	0.730351	0.13906	N	0.354608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-5.7671	5.0616	0.14560	0.1344:0.5818:0.0:0.2838	.	.	.	.	X	1096	.	ENSP00000296137:E1096X	E	-	1	0	FYCO1	45978872	0.023000	0.18921	0.007000	0.13788	0.360000	0.29518	1.351000	0.34022	0.413000	0.25759	-0.137000	0.14449	GAA	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257320.2		-	ENST00000296137.2	Nonsense_Mutation	SNP	3 : 46003868 - 46003868 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1102	12
GPR35	2859	broad.mit.edu	37	2	241569512	241569512	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:241569512G>A	ENST00000319838.5	+	6	1085	c.143G>A	c.(142-144)cGc>cAc	p.R48H	GPR35_ENST00000438013.2_Missense_Mutation_p.R79H|GPR35_ENST00000430267.1_Missense_Mutation_p.R48H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H|GPR35_ENST00000407714.1_Missense_Mutation_p.R48H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	48						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TTCTGCTGCCGCATGCAGCAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	84	75	78		236,236,143	2.9	0.8	2		78	0,8600		0,0,4300	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	29,29,29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	79/341,79/341,48/310	241569512	1,13005	2203	4300	6503	SO:0001583	missense				CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623	2859	2859		GPCR / Class A : Orphans	4492	protein-coding gene	gene with protein product		602646			NA	9479505	Standard	NM_001195382	NM_005301	NA	Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.143G>A	2.37:g.241569512G>A	ENSP00000322731:p.Arg48His	NA	O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	37	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219555	0.58560	2.27E-4	0.0	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	3.81	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.567532	0.16439	U	0.214392	T	0.73225	0.3560	L	0.39514	1.22	0.34064	D	0.657654	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.987;0.989;0.989	T	0.74497	-0.3646	10	0.36615	T	0.2	-28.6438	6.1563	0.20340	0.2348:0.0:0.7652:0.0	.	133;79;48	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	H	48;48;79;48;48	ENSP00000322731:R48H;ENSP00000385140:R48H;ENSP00000415890:R79H;ENSP00000384263:R48H;ENSP00000411788:R48H	ENSP00000322731:R48H	R	+	2	0	GPR35	241218185	0.000000	0.05858	0.789000	0.31954	0.616000	0.37450	-0.018000	0.12568	0.937000	0.37394	0.462000	0.41574	CGC	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325631.1		+	ENST00000319838.5	Missense_Mutation	SNP	2 : 241569512 - 241569512 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	247	6
GRHPR	9380	broad.mit.edu	37	9	37425975	37425975	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:37425975G>A	ENST00000607784.1	+	3	276	c.271G>A	c.(271-273)Gat>Aat	p.D91N	GRHPR_ENST00000318158.6_Missense_Mutation_p.D91N|GRHPR_ENST00000493368.1_3'UTR			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	91					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CTTGGCTTTGGATGAAATCAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	100	105			NA	NA	9		NA											NA				37425975		2203	4300	6503	SO:0001583	missense			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	9380	9380	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	primary hyperoxaluria type 2	604296		GLXR	NA	10524214, 10484776	Standard	NM_012203	XM_005251631	NA	Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000607784.1:c.271G>A	9.37:g.37425975G>A	ENSP00000475569:p.Asp91Asn	NA	Q9H3E9|Q9UKX1	37		.	.	.	.	.	.	.	.	.	.	G	19.81	3.896202	0.72639	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	D;D	0.85088	-1.94;-1.94	5.72	5.72	0.89469	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.238434	0.47455	D	0.000233	T	0.81856	0.4911	L	0.39147	1.195	0.58432	D	0.999999	B;B;B	0.14805	0.011;0.0;0.0	B;B;B	0.21546	0.035;0.004;0.004	T	0.75448	-0.3314	10	0.35671	T	0.21	-15.1581	18.5201	0.90948	0.0:0.0:1.0:0.0	.	91;91;91	Q5T946;Q5T945;Q9UBQ7	.;.;GRHPR_HUMAN	N	91	ENSP00000367055:D91N;ENSP00000313432:D91N	ENSP00000313432:D91N	D	+	1	0	GRHPR	37415975	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.338000	0.79269	2.708000	0.92522	0.650000	0.86243	GAT	GRHPR-011	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000470310.1		+	ENST00000607784.1	Missense_Mutation	SNP	9 : 37425975 - 37425975 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	362	30
HAP1	9001	broad.mit.edu	37	17	39880981	39880981	+	Missense_Mutation	SNP	C	C	A	rs147264849	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:39880981C>A	ENST00000393939.2	-	10	1766	c.1757G>T	c.(1756-1758)cGg>cTg	p.R586L	HAP1_ENST00000310778.5_Missense_Mutation_p.R663L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.R594L|HAP1_ENST00000347901.4_Missense_Mutation_p.R611L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	663	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCAGCTTGTCCGGCTGGCGGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	90	86			NA	NA	17		NA											NA				39880981		2203	4300	6503	SO:0001583	missense			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805	9001	9001			4812	protein-coding gene	gene with protein product	neuroan 1	600947		HAP2	NA	7477378, 9668110	Standard	NM_003949	NM_177977	NA	Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000393939.2:c.1757G>T	17.37:g.39880981C>A	ENSP00000377513:p.Arg586Leu	NA	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	37	CCDS42339.1	.	.	.	.	.	.	.	.	.	.	C	4.467	0.086539	0.08583	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.05925	3.37;3.63;3.5;3.38	3.87	-3.79	0.04320	.	3.455040	0.00822	N	0.001599	T	0.03011	0.0089	N	0.03608	-0.345	0.19945	N	0.999941	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.40627	-0.9553	10	0.44086	T	0.13	-0.0494	4.4024	0.11393	0.1562:0.3476:0.0:0.4962	.	586;594;611;663	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	586;663;611;594	ENSP00000377513:R586L;ENSP00000309392:R663L;ENSP00000334002:R611L;ENSP00000343170:R594L	ENSP00000309392:R663L	R	-	2	0	HAP1	37134507	0.007000	0.16637	0.087000	0.20705	0.043000	0.13939	-2.788000	0.00768	-0.824000	0.04295	-1.337000	0.01257	CGG	HAP1-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389618.1		-	ENST00000393939.2	Missense_Mutation	SNP	17 : 39880981 - 39880981 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	810	9
HDLBP	3069	broad.mit.edu	37	2	242194513	242194513	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:242194513C>A	ENST00000391975.1	-	9	1368	c.1141G>T	c.(1141-1143)Ggc>Tgc	p.G381C	HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C|HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C|HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	381	KH 4.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTTTCTTGCCAATGATGAAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	209	205			NA	NA	2		NA											NA				242194513		2203	4300	6503	SO:0001583	missense				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677	3069	3069			4857	protein-coding gene	gene with protein product		142695	vigilin	VGL	NA	1318310, 8390966	Standard	NM_203346	NM_005336	NA	Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1141G>T	2.37:g.242194513C>A	ENSP00000375836:p.Gly381Cys	NA	Q53QU2|Q9UCY3	37	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	34|34|34	5.374320|5.374320|5.374320	0.95923|0.95923|0.95923	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141|ENST00000373292	D;D;D;D|.|.	0.88741|.|.	-2.42;-2.42;-2.42;-2.42|.|.	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.84543|0.84543|0.84543	0.5495|0.5495|0.5495	M|M|M	0.86651|0.86651|0.86651	2.83|2.83|2.83	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0|.|.	D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0|.|.	D|D|D	0.85095|0.85095|0.85095	0.0954|0.0954|0.0954	10|5|5	0.87932|.|.	D|.|.	0|.|.	-37.045|-37.045|-37.045	20.3539|20.3539|20.3539	0.98825|0.98825|0.98825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	381;348;381|.|.	B2R5V9;E7EM71;Q00341|.|.	.;.;VIGLN_HUMAN|.|.	C|F|L	381;381;381;348|258|189	ENSP00000375836:G381C;ENSP00000375837:G381C;ENSP00000312042:G381C;ENSP00000399139:G348C|.|.	ENSP00000312042:G381C|.|.	G|L|W	-|-|-	1|3|2	0|2|0	HDLBP|HDLBP|HDLBP	241843186|241843186|241843186	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	7.755000|7.755000|7.755000	0.85180|0.85180|0.85180	2.826000|2.826000|2.826000	0.97356|0.97356|0.97356	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGC|TTG|TGG	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257245.5		-	ENST00000391975.1	Missense_Mutation	SNP	2 : 242194513 - 242194513 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1227	12
HERC2	8924	broad.mit.edu	37	15	28370319	28370319	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:28370319C>A	ENST00000261609.7	-	84	12931	c.12823G>T	c.(12823-12825)Gac>Tac	p.D4275Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4275					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCATTGTCGCCCCATGTA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	191	198			NA	NA	15		NA											NA				28370319		2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12823G>T	15.37:g.28370319C>A	ENSP00000261609:p.Asp4275Tyr	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814952	0.90790	.	.	ENSG00000128731	ENST00000261609	D	0.84730	-1.89	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90196	0.4253	10	0.87932	D	0	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4275	O95714	HERC2_HUMAN	Y	4275	ENSP00000261609:D4275Y	ENSP00000261609:D4275Y	D	-	1	0	HERC2	26043914	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	GAC	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28370319 - 28370319 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1162	10
HHIPL2	79802	broad.mit.edu	37	1	222716940	222716940	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:222716940G>T	ENST00000343410.6	-	2	971	c.913C>A	c.(913-915)Cga>Aga	p.R305R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	305					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCACTAATTCGGATCTTTTCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	262	253			NA	NA	1		NA											NA				222716940		2203	4300	6503	SO:0001819	synonymous_variant			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512	79802	79802			25842	protein-coding gene	gene with protein product			KIAA1822-like	KIAA1822L	NA	12975309	Standard	NM_024746	NM_024746	NA	Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.913C>A	1.37:g.222716940G>T		NA	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	37	CCDS1530.2																																																																																			HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091499.2		-	ENST00000343410.6	Silent	SNP	1 : 222716940 - 222716940 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1456	12
HMCN1	83872	broad.mit.edu	37	1	185833685	185833685	+	Silent	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185833685T>G	ENST00000271588.4	+	3	652	c.423T>G	c.(421-423)gtT>gtG	p.V141V	HMCN1_ENST00000367492.2_Silent_p.V141V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	141	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTATGTTTTCACTGATG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	115	117			NA	NA	1		NA											NA				185833685		2203	4300	6503	SO:0001819	synonymous_variant			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341	83872	83872		Fibulins, Immunoglobulin superfamily / I-set domain containing	19194	protein-coding gene	gene with protein product	fibulin 6	608548	age-related macular degeneration 1 (senile macular degeneration)	ARMD1	NA	11222143	Standard	NM_031935	NM_031935	NA	Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.423T>G	1.37:g.185833685T>G		NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1																																																																																			HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Silent	SNP	1 : 185833685 - 185833685 G PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	314	5
HMCN1	83872	broad.mit.edu	37	1	185931765	185931765	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	648	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGACCGTTAACGATATGTTTA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	190	196			NA	NA	1		NA											NA				185931765		2203	4300	6503	SO:0001819	synonymous_variant			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341	83872	83872		Fibulins, Immunoglobulin superfamily / I-set domain containing	19194	protein-coding gene	gene with protein product	fibulin 6	608548	age-related macular degeneration 1 (senile macular degeneration)	ARMD1	NA	11222143	Standard	NM_031935	NM_031935	NA	Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1944C>T	1.37:g.185931765C>T		NA	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	37	CCDS30956.1																																																																																			HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131848.1		+	ENST00000271588.4	Silent	SNP	1 : 185931765 - 185931765 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1010	15
IDE	3416	broad.mit.edu	37	10	94223733	94223733	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:94223733C>A	ENST00000265986.6	-	21	2572	c.2516G>T	c.(2515-2517)cGa>cTa	p.R839L	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.R284L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	839					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCATTAGCTCGACGTGGCCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	198	199			NA	NA	10		NA											NA				94223733		2203	4300	6503	SO:0001583	missense			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912	3416	3416			5381	protein-coding gene	gene with protein product	insulysin	146680			NA	2293021	Standard	NM_004969	NM_004969	NA	Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2516G>T	10.37:g.94223733C>A	ENSP00000265986:p.Arg839Leu	NA	D3DR35|Q5T5N2	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962777	0.92791	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.07327	3.2;3.2	5.61	5.61	0.85477	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000001	T	0.19327	0.0464	L	0.54863	1.705	0.80722	D	1	D;D	0.59767	0.978;0.986	P;P	0.58172	0.792;0.834	T	0.03863	-1.0997	10	0.07990	T	0.79	-8.6533	20.0016	0.97412	0.0:1.0:0.0:0.0	.	839;284	P14735;B3KSB8	IDE_HUMAN;.	L	839;284	ENSP00000265986:R839L;ENSP00000360637:R284L	ENSP00000265986:R839L	R	-	2	0	IDE	94213713	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.545000	0.82128	2.802000	0.96397	0.655000	0.94253	CGA	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049393.1		-	ENST00000265986.6	Missense_Mutation	SNP	10 : 94223733 - 94223733 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1049	10
IFT88	8100	broad.mit.edu	37	13	21230565	21230565	+	Silent	SNP	C	C	A	rs147013462		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:21230565C>A	ENST00000319980.6	+	24	2418	c.2091C>A	c.(2089-2091)gtC>gtA	p.V697V	IFT88_ENST00000537103.1_Silent_p.V669V|IFT88_ENST00000351808.5_Silent_p.V688V|IFT88_ENST00000382778.4_Silent_p.V697V	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	697					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAGAAAATGTCGAATGTAAGT	0.259		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	59	59			NA	NA	13		NA											NA				21230565		2181	4246	6427	SO:0001819	synonymous_variant			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742	8100	8100		Intraflagellar transport homologs, Tetratricopeptide (TTC) repeat domain containing	20606	protein-coding gene	gene with protein product	polaris homolog	600595	tetratricopeptide repeat domain 10, intraflagellar transport 88 homolog (Chlamydomonas)	TTC10	NA	7633404	Standard	NM_006531	XM_005266546	NA	Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2091C>A	13.37:g.21230565C>A		NA	A2A491|B4DUS2|Q5SZJ6|Q8N719	37	CCDS31944.1																																																																																			IFT88-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044075.3		+	ENST00000319980.6	Silent	SNP	13 : 21230565 - 21230565 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	401	10
IQGAP3	128239	broad.mit.edu	37	1	156510545	156510545	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:156510545C>A	ENST00000361170.2	-	23	2704	c.2694G>T	c.(2692-2694)atG>atT	p.M898I		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	898					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTGATGTCCATGATGTTGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	127	143			NA	NA	1		NA											NA				156510545		2203	4300	6503	SO:0001583	missense			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856	128239	128239			20669	protein-coding gene	gene with protein product					NA		Standard	NM_178229	NM_178229	NA	Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2694G>T	1.37:g.156510545C>A	ENSP00000354451:p.Met898Ile	NA	Q5T3H8	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737875	0.89573	.	.	ENSG00000183856	ENST00000361170	T	0.03035	4.07	4.8	4.8	0.61643	.	0.046269	0.85682	D	0.000000	T	0.13072	0.0317	M	0.86740	2.835	0.80722	D	1	P	0.50528	0.936	P	0.61201	0.885	T	0.00238	-1.1889	10	0.72032	D	0.01	-21.3897	15.4029	0.74855	0.0:1.0:0.0:0.0	.	898	Q86VI3	IQGA3_HUMAN	I	898	ENSP00000354451:M898I	ENSP00000354451:M898I	M	-	3	0	IQGAP3	154777169	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	2.483000	0.83821	0.655000	0.94253	ATG	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080657.1		-	ENST00000361170.2	Missense_Mutation	SNP	1 : 156510545 - 156510545 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	425	9
IRX2	153572	broad.mit.edu	37	5	2749639	2749639	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:2749639C>T	ENST00000502957.1	-	0	459				IRX2_ENST00000382611.6_Missense_Mutation_p.R171H|IRX2_ENST00000302057.5_Missense_Mutation_p.R171H			Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	NA						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTCTTGAGGCGCCGGCGCGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	128	131			NA	NA	5		NA											NA				2749639		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561	153572	153572		Homeoboxes / TALE class	14359	protein-coding gene	gene with protein product		606198			NA	11435706	Standard		NM_033267	NA	Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000502957.1:c.-386G>A	5.37:g.2749639C>T		NA	Q68A19|Q7Z2I7	37		.	.	.	.	.	.	.	.	.	.	C	35	5.448586	0.96205	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.98617	-5.03;-5.03;-5.03	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98132	1.0431	10	0.87932	D	0	-23.159	17.9697	0.89110	0.0:1.0:0.0:0.0	.	171	Q9BZI1	IRX2_HUMAN	H	171;171;78	ENSP00000372056:R171H;ENSP00000307006:R171H;ENSP00000426151:R78H	ENSP00000307006:R171H	R	-	2	0	IRX2	2802639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.460000	0.80816	2.239000	0.73571	0.655000	0.94253	CGC	IRX2-003	KNOWN	mRNA_end_NF|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000365963.2		-	ENST00000502957.1	5'UTR	SNP	5 : 2749639 - 2749639 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	497	9
ITGB6	3694	broad.mit.edu	37	2	160994703	160994703	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:160994703C>A	ENST00000428609.2	-	8	1223	c.989G>T	c.(988-990)cGg>cTg	p.R330L	ITGB6_ENST00000409872.1_Missense_Mutation_p.R372L|ITGB6_ENST00000409967.2_Missense_Mutation_p.R372L|ITGB6_ENST00000283249.2_Missense_Mutation_p.R372L			P18564	ITB6_HUMAN	integrin, beta 6	372	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACCTCAGACCGCAGTTCCTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	155	163			NA	NA	2		NA											NA				160994703		2203	4300	6503	SO:0001583	missense				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221	3694	3694		Integrins	6161	protein-coding gene	gene with protein product		147558			NA	1729173, 8120056	Standard	NM_000888	NM_001282353	NA	Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000428609.2:c.989G>T	2.37:g.160994703C>A	ENSP00000408024:p.Arg330Leu	NA	B2R9W5|Q0VA95|Q16500|Q53RG5|Q53RR6	37		.	.	.	.	.	.	.	.	.	.	C	31	5.069244	0.93950	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.76	5.76	0.90799	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	M	0.78285	2.405	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98288	1.0512	10	0.49607	T	0.09	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	330;372	E9PEE8;P18564	.;ITB6_HUMAN	L	372;330;372;372	ENSP00000283249:R372L;ENSP00000408024:R330L;ENSP00000386828:R372L;ENSP00000386367:R372L	ENSP00000283249:R372L	R	-	2	0	ITGB6	160702949	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.559000	0.82265	2.880000	0.98712	0.650000	0.86243	CGG	ITGB6-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000334016.1		-	ENST00000428609.2	Missense_Mutation	SNP	2 : 160994703 - 160994703 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	636	7
ITIH5	80760	broad.mit.edu	37	10	7621857	7621857	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:7621857C>T	ENST00000256861.6	-	9	1357	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T	ITIH5_ENST00000397146.2_Missense_Mutation_p.A427T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209T|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	427	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A427S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGGCCTCGGGCGGCCTCTCGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											136	123	128			NA	NA	10		NA											NA				7621857		2203	4300	6503	SO:0001583	missense					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243	80760	80760			21449	protein-coding gene	gene with protein product		609783	inter-alpha (globulin) inhibitor H5		NA	14744536	Standard	NM_030569	NM_001001851	NA	Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1279G>A	10.37:g.7621857C>T	ENSP00000256861:p.Ala427Thr	NA	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	37		.	.	.	.	.	.	.	.	.	.	C	6.771	0.511196	0.12883	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.2	1.74	0.24563	von Willebrand factor, type A (3);	0.388819	0.30979	N	0.008484	T	0.63896	0.2550	.	.	.	0.09310	N	1	B;B;B	0.25563	0.129;0.056;0.046	B;B;B	0.17433	0.018;0.01;0.006	T	0.52275	-0.8597	9	0.42905	T	0.14	-17.5123	8.1036	0.30872	0.0:0.4401:0.0:0.5599	.	427;427;213	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	T	427;427;213;209;427	ENSP00000256861:A427T;ENSP00000380333:A427T;ENSP00000298441:A213T;ENSP00000387969:A209T;ENSP00000380332:A427T	ENSP00000256861:A427T	A	-	1	0	ITIH5	7661863	0.733000	0.28132	0.002000	0.10522	0.111000	0.19643	1.263000	0.33004	0.052000	0.16007	0.462000	0.41574	GCC	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000046688.1		-	ENST00000256861.6	Missense_Mutation	SNP	10 : 7621857 - 7621857 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	299	6
JPH1	56704	broad.mit.edu	37	8	75149493	75149493	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:75149493C>A	ENST00000342232.4	-	5	1991	c.1951G>T	c.(1951-1953)Ggg>Tgg	p.G651W	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	651					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.G651W(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATGGCCAACCCGATATTCAAC	0.318		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)											107	99	102			NA	NA	8		NA											NA				75149493		2203	4300	6503	SO:0001583	missense			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369	56704	56704			14201	protein-coding gene	gene with protein product		605266			NA	10891348, 10949023	Standard		XM_005251273	NA	Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1951G>T	8.37:g.75149493C>A	ENSP00000344488:p.Gly651Trp	NA	B2RTZ0	37	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335460	0.81801	.	.	ENSG00000104369	ENST00000342232	T	0.78924	-1.22	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88263	0.2924	10	0.87932	D	0	.	19.008	0.92859	0.0:1.0:0.0:0.0	.	651	Q9HDC5	JPH1_HUMAN	W	651	ENSP00000344488:G651W	ENSP00000344488:G651W	G	-	1	0	JPH1	75312047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.943000	0.75934	2.740000	0.93945	0.650000	0.86243	GGG	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379102.1		-	ENST00000342232.4	Missense_Mutation	SNP	8 : 75149493 - 75149493 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	864	9
KBTBD7	84078	broad.mit.edu	37	13	41766701	41766701	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:41766701C>A	ENST00000379483.3	-	1	2001	c.1693G>T	c.(1693-1695)Gac>Tac	p.D565Y		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	565							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AACTTTTGGTCATGATTGACA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	175	176			NA	NA	13		NA											NA				41766701		2203	4300	6503	SO:0001583	missense			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696	84078	84078		BTB/POZ domain containing	25266	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_032138	NM_032138	NA	Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1693G>T	13.37:g.41766701C>A	ENSP00000368797:p.Asp565Tyr	NA	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	7.206	0.594450	0.13875	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.70164	-0.46	5.37	5.37	0.77165	Kelch-type beta propeller (1);	0.277584	0.34110	U	0.004247	T	0.51753	0.1693	N	0.19112	0.55	0.36583	D	0.87366	P	0.36495	0.556	B	0.31016	0.123	T	0.65228	-0.6219	10	0.72032	D	0.01	.	16.5964	0.84797	0.0:1.0:0.0:0.0	.	565	Q8WVZ9	KBTB7_HUMAN	Y	565;467	ENSP00000368797:D565Y	ENSP00000368797:D565Y	D	-	1	0	KBTBD7	40664701	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.986000	0.40677	2.502000	0.84385	0.557000	0.71058	GAC	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044660.1		-	ENST00000379483.3	Missense_Mutation	SNP	13 : 41766701 - 41766701 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	847	14
KCNK2	3776	broad.mit.edu	37	1	215408472	215408472	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:215408472T>C	ENST00000444842.2	+	7	1415	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T|KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	422	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATTGCTGTGATTGAGAACATC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	138	140			NA	NA	1		NA											NA				215408472		2203	4299	6502	SO:0001583	missense			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482	3776	3776		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6277	protein-coding gene	gene with protein product		603219			NA	9721223, 16382106	Standard	NM_014217	NM_001017424	NA	Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1265T>C	1.37:g.215408472T>C	ENSP00000394033:p.Ile422Thr	NA	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP48|Q9NRT2|Q9UNE3	37	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167433	0.57476	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.26518	1.73;1.76;1.73	5.63	5.63	0.86233	.	0.385177	0.29565	N	0.011799	T	0.21347	0.0514	L	0.27053	0.805	0.58432	D	0.999999	P;P;P	0.40731	0.728;0.608;0.728	B;B;B	0.37888	0.26;0.133;0.26	T	0.03157	-1.1066	10	0.87932	D	0	.	15.8309	0.78749	0.0:0.0:0.0:1.0	.	407;422;418	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	T	418;407;422	ENSP00000375765:I418T;ENSP00000375764:I407T;ENSP00000394033:I422T	ENSP00000375764:I407T	I	+	2	0	KCNK2	213475095	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.502000	0.81614	2.149000	0.67028	0.402000	0.26972	ATT	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089856.2		+	ENST00000444842.2	Missense_Mutation	SNP	1 : 215408472 - 215408472 C PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	545	7
KEL	3792	broad.mit.edu	37	7	142650939	142650939	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:142650939C>A	ENST00000355265.2	-	9	1503	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	343					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACATGTTTTTCAAATATTCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	222	222			NA	NA	7		NA											NA				142650939		2203	4300	6503	SO:0001583	missense			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993	3792	3792		CD molecules, Blood group antigens	6308	protein-coding gene	gene with protein product		613883	Kell blood group, Kell blood group, metalloendopeptidase		NA	1712490, 7683930	Standard	NM_000420	NM_000420	NA	Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1029G>T	7.37:g.142650939C>A	ENSP00000347409:p.Leu343Phe	NA	B2RBV4|Q96RS8|Q99885	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963308	0.53507	.	.	ENSG00000197993	ENST00000355265	T	0.76186	-1.0	5.78	2.87	0.33458	Peptidase M13 (1);	0.646012	0.13373	N	0.392767	T	0.78509	0.4294	M	0.79258	2.445	0.33148	D	0.545267	P	0.47841	0.901	P	0.53401	0.725	T	0.78868	-0.2034	10	0.31617	T	0.26	-8.148	5.8491	0.18683	0.1578:0.6713:0.0:0.1709	.	343	P23276	KELL_HUMAN	F	343	ENSP00000347409:L343F	ENSP00000347409:L343F	L	-	3	2	KEL	142361061	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	1.388000	0.34442	1.469000	0.48083	0.478000	0.44815	TTG	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347671.2		-	ENST00000355265.2	Missense_Mutation	SNP	7 : 142650939 - 142650939 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1216	16
KIAA1841	84542	broad.mit.edu	37	2	61319641	61319641	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:61319641C>A	ENST00000402291.1	+	11	1372	c.1131C>A	c.(1129-1131)ttC>ttA	p.F377L	KIAA1841_ENST00000356719.2_Missense_Mutation_p.F377L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.F377L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.F377L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	377										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATAGTCTTTTCGAAGAATTAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	94	92			NA	NA	2		NA											NA				61319641		2203	4300	6503	SO:0001583	missense			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929	84542	84542			29387	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_032506	NM_032506	NA	Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1131C>A	2.37:g.61319641C>A	ENSP00000385579:p.Phe377Leu	NA	Q49AF0|Q6ZND0|Q96JI6	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983612	0.35036	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.57	3.21	0.36854	.	0.205027	0.44483	D	0.000455	T	0.42988	0.1227	L	0.46157	1.445	0.41078	D	0.9855	P;P	0.39535	0.677;0.585	B;B	0.39419	0.198;0.299	T	0.14559	-1.0468	9	0.19147	T	0.46	-15.8163	10.1076	0.42544	0.0:0.2114:0.0:0.7886	.	377;377	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	L	377	.	ENSP00000295031:F377L	F	+	3	2	KIAA1841	61173145	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.061000	0.30542	0.405000	0.25532	-1.224000	0.01588	TTC	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325477.1		+	ENST00000402291.1	Missense_Mutation	SNP	2 : 61319641 - 61319641 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	636	8
KIF1B	23095	broad.mit.edu	37	1	10434488	10434488	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:10434488C>A	ENST00000377081.1	+	45	5140	c.5061C>A	c.(5059-5061)ctC>ctA	p.L1687L	KIF1B_ENST00000263934.6_Silent_p.L1641L|KIF1B_ENST00000377086.1_Silent_p.L1687L			O60333	KIF1B_HUMAN	kinesin family member 1B	1687					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACGAATTTCTCAATCTTGTTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	91	89			NA	NA	1		NA											NA				10434488		2203	4300	6503	SO:0001819	synonymous_variant			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523	23095	23095		Kinesins, Pleckstrin homology (PH) domain containing	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2	NA	11389829, 10762626	Standard		NM_015074	NA	Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377081.1:c.5061C>A	1.37:g.10434488C>A		NA	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	37																																																																																				KIF1B-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000005106.1		+	ENST00000377081.1	Silent	SNP	1 : 10434488 - 10434488 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	726	14
KIF20B	9585	broad.mit.edu	37	10	91483759	91483759	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:91483759G>T	ENST00000371728.3	+	14	1826	c.1761G>T	c.(1759-1761)ctG>ctT	p.L587L	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Silent_p.L587L|KIF20B_ENST00000394289.2_Silent_p.L587L|KIF20B_ENST00000260753.4_Silent_p.L587L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	587					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAAACTGATAAATGAAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	48	45			NA	NA	10		NA											NA				91483759		2179	4288	6467	SO:0001819	synonymous_variant			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182	9585	9585			7212	protein-coding gene	gene with protein product	cancer/testis antigen 90	605498	M-phase phosphoprotein 1	MPHOSPH1	NA	8885239, 8290587, 11470801	Standard	NM_016195	NM_016195	NA	Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1761G>T	10.37:g.91483759G>T		NA	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	37																																																																																				KIF20B-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000049330.1		+	ENST00000371728.3	Silent	SNP	10 : 91483759 - 91483759 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	486	10
KIF5B	3799	broad.mit.edu	37	10	32323665	32323665	+	Missense_Mutation	SNP	C	C	A	rs141896420		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:32323665C>A	ENST00000302418.4	-	11	1521	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	355					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AATAGTGTTCCGCAGGATCTT	0.338		NA	T	RET, ALK	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													66	63	64			NA	NA	10		NA											NA				32323665		2203	4299	6502	SO:0001583	missense			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759	3799	3799		Kinesins	6324	protein-coding gene	gene with protein product		602809		KNS1	NA	1607388	Standard	NM_004521	NM_004521	NA	Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1064G>T	10.37:g.32323665C>A	ENSP00000307078:p.Arg355Leu	NA	A0AVB2|Q5VZ85	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853165	0.51270	.	.	ENSG00000170759	ENST00000302418	D	0.87809	-2.3	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	L	0.44542	1.39	0.45403	D	0.998389	B	0.23854	0.092	B	0.23852	0.049	T	0.79327	-0.1849	10	0.28530	T	0.3	.	18.8538	0.92242	0.0:1.0:0.0:0.0	.	355	P33176	KINH_HUMAN	L	355	ENSP00000307078:R355L	ENSP00000307078:R355L	R	-	2	0	KIF5B	32363671	0.978000	0.34361	1.000000	0.80357	0.957000	0.61999	2.608000	0.46308	2.435000	0.82474	0.563000	0.77884	CGG	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047467.1		-	ENST00000302418.4	Missense_Mutation	SNP	10 : 32323665 - 32323665 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	523	7
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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-YB-A89D-Tumor-SM-5KWXR	396	6
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	513	88
LRP2	4036	broad.mit.edu	37	2	170070176	170070176	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:170070176G>T	ENST00000263816.3	-	36	6316	c.6031C>A	c.(6031-6033)Cac>Aac	p.H2011N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2011					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGCGTCTGTGATAAACTTGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	136	137			NA	NA	2		NA											NA				170070176		2203	4300	6503	SO:0001583	missense				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	4036	4036		Low density lipoprotein receptors	6694	protein-coding gene	gene with protein product	megalin	600073			NA	7959795	Standard	NM_004525	NM_004525	NA	Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6031C>A	2.37:g.170070176G>T	ENSP00000263816:p.His2011Asn	NA	O00711|Q16215	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.860	1.195950	0.22037	.	.	ENSG00000081479	ENST00000263816	D	0.91068	-2.78	5.96	2.86	0.33363	Six-bladed beta-propeller, TolB-like (1);	0.334175	0.36854	N	0.002371	T	0.81484	0.4832	L	0.51853	1.615	0.80722	D	1	P	0.35656	0.514	B	0.21708	0.036	T	0.73424	-0.3987	10	0.17832	T	0.49	.	5.3453	0.16006	0.5156:0.0:0.4844:0.0	.	2011	P98164	LRP2_HUMAN	N	2011	ENSP00000263816:H2011N	ENSP00000263816:H2011N	H	-	1	0	LRP2	169778422	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	2.294000	0.43567	0.873000	0.35799	0.650000	0.86243	CAC	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255231.2		-	ENST00000263816.3	Missense_Mutation	SNP	2 : 170070176 - 170070176 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	882	12
LRRC37A3	374819	broad.mit.edu	37	17	62856801	62856801	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:62856801G>T	ENST00000584306.1	-	11	3993	c.3463C>A	c.(3463-3465)Caa>Aaa	p.Q1155K	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q273K|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1155K|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q132K|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q193K	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1155						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTACAGTTTGAATCTTTGCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	126	125			NA	NA	17		NA											NA				62856801		2203	4300	6503	SO:0001583	missense			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809	374819	374819			32427	protein-coding gene	gene with protein product					NA		Standard	NM_199340	NM_199340	NA	Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3463C>A	17.37:g.62856801G>T	ENSP00000464535:p.Gln1155Lys	NA	Q49A01|Q49A80|Q8NB33	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	4.865	0.160854	0.09287	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.59502	1.5;1.5;0.26	2.23	-4.47	0.03525	.	.	.	.	.	T	0.39489	0.1080	L	0.43152	1.355	0.09310	N	1	B;P	0.38504	0.062;0.634	B;B	0.30105	0.039;0.111	T	0.28713	-1.0035	9	0.66056	D	0.02	.	7.1104	0.25386	0.1462:0.6419:0.2119:0.0	.	273;1155	B4DG20;O60309	.;L37A3_HUMAN	K	236;193;132;1155	ENSP00000383674:Q193K;ENSP00000335617:Q132K;ENSP00000325713:Q1155K	ENSP00000325713:Q1155K	Q	-	1	0	LRRC37A3	60287263	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.705000	0.01896	-0.797000	0.04450	-0.735000	0.03563	CAA	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445377.1		-	ENST00000584306.1	Missense_Mutation	SNP	17 : 62856801 - 62856801 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	936	12
MAGI2	9863	broad.mit.edu	37	7	77755148	77755148	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:77755148C>A	ENST00000354212.4	-	20	3683	c.3430G>T	c.(3430-3432)Gat>Tat	p.D1144Y	MAGI2_ENST00000419488.1_Missense_Mutation_p.D1130Y|MAGI2_ENST00000522391.1_Missense_Mutation_p.D1144Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1144						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGAAATAATCAAAATCCTTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	7		NA											NA				77755148		2203	4300	6503	SO:0001583	missense			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391	9863	9863			18957	protein-coding gene	gene with protein product		606382			NA	10681527, 9734811	Standard	NM_012301	XM_005250725	NA	Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3430G>T	7.37:g.77755148C>A	ENSP00000346151:p.Asp1144Tyr	NA	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826992	0.90955	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.17691	2.26;2.26;2.26	6.03	6.03	0.97812	PDZ/DHR/GLGF (1);	0.000000	0.37530	U	0.002049	T	0.33498	0.0865	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.03175	-1.1064	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1144;1130;1144	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	Y	1130;1144;1144;1144	ENSP00000405766:D1130Y;ENSP00000346151:D1144Y;ENSP00000428389:D1144Y	ENSP00000346151:D1144Y	D	-	1	0	MAGI2	77593084	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAT	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253197.3		-	ENST00000354212.4	Missense_Mutation	SNP	7 : 77755148 - 77755148 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	453	13
MEP1A	4224	broad.mit.edu	37	6	46797278	46797278	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:46797278C>A	ENST00000230588.4	+	10	1123	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	372	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGCAATGTTCGCAAGTTGGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	145	143			NA	NA	6		NA											NA				46797278		2203	4300	6503	SO:0001583	missense				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	4224	4224	3.4.24.18		7015	protein-coding gene	gene with protein product		600388			NA	7774936	Standard	NM_005588	NM_005588	NA	Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1114C>A	6.37:g.46797278C>A	ENSP00000230588:p.Arg372Ser	NA	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	37	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330826	0.41297	.	.	ENSG00000112818	ENST00000230588	T	0.02067	4.47	5.77	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.342421	0.34435	N	0.003979	T	0.03783	0.0107	M	0.74881	2.28	0.43522	D	0.995798	D;D	0.58970	0.984;0.984	P;P	0.61070	0.858;0.883	T	0.53753	-0.8394	10	0.19147	T	0.46	-12.7042	10.0322	0.42107	0.1364:0.7941:0.0:0.0695	.	400;372	B7ZL91;Q16819	.;MEP1A_HUMAN	S	372	ENSP00000230588:R372S	ENSP00000230588:R372S	R	+	1	0	MEP1A	46905237	0.011000	0.17503	0.879000	0.34478	0.799000	0.45148	0.779000	0.26746	1.410000	0.46936	0.650000	0.86243	CGC	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040803.1		+	ENST00000230588.4	Missense_Mutation	SNP	6 : 46797278 - 46797278 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	638	13
MGAT3	4248	broad.mit.edu	37	22	39884255	39884255	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884255C>A	ENST00000341184.6	+	2	1118	c.903C>A	c.(901-903)gtC>gtA	p.V301V		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	301					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AGGACGGCGTCTCGCGGCTGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	61	60			NA	NA	22		NA											NA				39884255		2202	4296	6498	SO:0001819	synonymous_variant			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	4248	4248	2.4.1.144	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	7046	protein-coding gene	gene with protein product		604621			NA	8370666	Standard	NM_002409	NM_002409	NA	Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.903C>A	22.37:g.39884255C>A		NA	A6NGD0|Q14CK5|Q6IC49|Q9UH32	37	CCDS13994.2																																																																																			MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075039.2		+	ENST00000341184.6	Silent	SNP	22 : 39884255 - 39884255 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	668	83
MGAT3	4248	broad.mit.edu	37	22	39884489	39884489	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884489C>T	ENST00000341184.6	+	2	1352	c.1137C>T	c.(1135-1137)atC>atT	p.I379I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	379					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGACGGCATCCGCCTGCGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	44	43			NA	NA	22		NA											NA				39884489		2203	4299	6502	SO:0001819	synonymous_variant			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	4248	4248	2.4.1.144	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	7046	protein-coding gene	gene with protein product		604621			NA	8370666	Standard	NM_002409	NM_002409	NA	Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1137C>T	22.37:g.39884489C>T		NA	A6NGD0|Q14CK5|Q6IC49|Q9UH32	37	CCDS13994.2																																																																																			MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075039.2		+	ENST00000341184.6	Silent	SNP	22 : 39884489 - 39884489 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	437	52
MGAT3	4248	broad.mit.edu	37	22	39884636	39884636	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884636C>T	ENST00000341184.6	+	2	1499	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	428					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGAGGGCATCTACTTCAAGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	52	53			NA	NA	22		NA											NA				39884636		2203	4300	6503	SO:0001819	synonymous_variant			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	4248	4248	2.4.1.144	Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases	7046	protein-coding gene	gene with protein product		604621			NA	8370666	Standard	NM_002409	NM_002409	NA	Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1284C>T	22.37:g.39884636C>T		NA	A6NGD0|Q14CK5|Q6IC49|Q9UH32	37	CCDS13994.2																																																																																			MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075039.2		+	ENST00000341184.6	Silent	SNP	22 : 39884636 - 39884636 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	185	19
MKI67	4288	broad.mit.edu	37	10	129904176	129904176	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:129904176G>T	ENST00000368654.3	-	13	6303	c.5928C>A	c.(5926-5928)atC>atA	p.I1976I	MKI67_ENST00000368653.3_Silent_p.I1616I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1976	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATACTTCTGTGATTTTGTCAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	198	196			NA	NA	10		NA											NA				129904176		2203	4300	6503	SO:0001819	synonymous_variant			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773	4288	4288			7107	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 105	176741	antigen identified by monoclonal antibody Ki-67		NA	2571566, 16206250	Standard	NM_002417	NM_002417	NA	Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5928C>A	10.37:g.129904176G>T		NA	Q5VWH2	37	CCDS7659.1																																																																																			MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050999.1		-	ENST00000368654.3	Silent	SNP	10 : 129904176 - 129904176 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1122	16
MS4A5	64232	broad.mit.edu	37	11	60197150	60197150	+	Translation_Start_Site	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:60197150G>T	ENST00000300190.2	+	1	89	c.3G>T	c.(1-3)atG>atT	p.M1I	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	1						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						ACACCATCATGGATTCAAGCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	110	111			NA	NA	11		NA											NA				60197150		2203	4300	6503	SO:0001582	initiator_codon_variant			AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930	64232	64232			13374	protein-coding gene	gene with protein product		606499			NA	11245982, 11401424	Standard		NM_023945	NA	Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.3G>T	11.37:g.60197150G>T	ENSP00000300190:p.Met1Ile	NA	Q9BZH1	37	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150767	0.57151	.	.	ENSG00000166930	ENST00000300190	T	0.10573	2.86	4.66	4.66	0.58398	.	0.922269	0.09352	N	0.814023	T	0.33731	0.0873	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.00726	-1.1592	9	0.72032	D	0.01	-20.1452	13.2445	0.60016	0.0:0.0:1.0:0.0	.	1	Q9H3V2	MS4A5_HUMAN	I	1	ENSP00000300190:M1I	ENSP00000300190:M1I	M	+	3	0	MS4A5	59953726	0.997000	0.39634	0.954000	0.39281	0.540000	0.34992	3.950000	0.56676	2.578000	0.87016	0.467000	0.42956	ATG	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395392.1	Missense_Mutation	+	ENST00000300190.2	Start_Codon_SNP	SNP	11 : 60197150 - 60197150 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	726	8
MTERFD1	0	broad.mit.edu	37	8	97263135	97263135	+	Splice_Site	SNP	T	T	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:97263135T>A	ENST00000524341.1	-	2	297	c.106A>T	c.(106-108)Agg>Tgg	p.R36W	MTERFD1_ENST00000522822.1_Splice_Site_p.R105W|MTERFD1_ENST00000287025.3_Splice_Site_p.R226W|MTERFD1_ENST00000523821.1_Splice_Site_p.R226W			Q96E29	MTER1_HUMAN		226					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAGTCCTACCTGGTCTTCAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	84	83			NA	NA	8		NA											NA				97263135		2203	4300	6503	SO:0001630	splice_region_variant											NA	NA			NA							NA					NA						ENST00000524341.1:c.107+1A>T	8.37:g.97263135T>A		NA	Q9Y301	37		.	.	.	.	.	.	.	.	.	.	T	18.18	3.566661	0.65651	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000524341;ENST00000287025	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.72	5.72	0.89469	.	0.090695	0.85682	D	0.000000	T	0.38054	0.1026	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.26883	-1.0090	10	0.40728	T	0.16	-6.2986	14.5668	0.68182	0.0:0.0:0.0:1.0	.	226;226	E5RIK9;Q96E29	.;MTER1_HUMAN	W	226;105;36;226	ENSP00000429400:R226W;ENSP00000430138:R105W;ENSP00000429267:R36W;ENSP00000287025:R226W	ENSP00000287025:R226W	R	-	1	2	MTERFD1	97332311	1.000000	0.71417	0.997000	0.53966	0.291000	0.27294	5.366000	0.66122	2.172000	0.68678	0.482000	0.46254	AGG	MTERFD1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379875.1	Missense_Mutation	-	ENST00000524341.1	Splice_Site	SNP	8 : 97263135 - 97263135 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	567	103
MTFR1L	56181	broad.mit.edu	37	1	26156118	26156118	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:26156118C>A	ENST00000526894.1	+	6	588				MTFR1L_ENST00000374300.3_Silent_p.T190T|MTFR1L_ENST00000474295.1_Missense_Mutation_p.P154Q|MTFR1L_ENST00000524618.1_Silent_p.T93T|MTFR1L_ENST00000466284.1_Missense_Mutation_p.P154Q|MTFR1L_ENST00000374307.5_Silent_p.T178T|MTFR1L_ENST00000374303.2_Silent_p.T190T|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000374301.3_Silent_p.T190T					mitochondrial fission regulator 1-like	NA											NA						GTGACATCACCGAGGAGACAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	188	195			NA	NA	1		NA											NA				26156118		1918	4136	6054	SO:0001627	intron_variant				CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640	56181	56181			28836	protein-coding gene	gene with protein product			family with sequence similarity 54, member B	FAM54B	NA	8619474, 9110174	Standard	NM_019557	NM_019557	NA	Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000526894.1:c.452-60C>A	1.37:g.26156118C>A		NA		37		.	.	.	.	.	.	.	.	.	.	C	14.50	2.555163	0.45487	.	.	ENSG00000117640	ENST00000474295;ENST00000466284	T;T	0.41758	0.99;0.99	6.17	-5.74	0.02391	.	.	.	.	.	T	0.17152	0.0412	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24440	-1.0160	8	0.11794	T	0.64	0.2996	4.451	0.11621	0.1308:0.3155:0.0696:0.4841	.	154	Q9H019-2	.	Q	154	ENSP00000435461:P154Q;ENSP00000434751:P154Q	ENSP00000434751:P154Q	P	+	2	0	FAM54B	26028705	0.002000	0.14202	0.664000	0.29753	0.997000	0.91878	-1.661000	0.01972	-0.841000	0.04200	0.655000	0.94253	CCG	MTFR1L-017	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393349.1		+	ENST00000526894.1	Intron	SNP	1 : 26156118 - 26156118 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	751	8
MTR	4548	broad.mit.edu	37	1	237024431	237024431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:237024431G>T	ENST00000366577.5	+	20	2444	c.2050G>T	c.(2050-2052)Gaa>Taa	p.E684*	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	684	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ttAGGGCATTGAAAAACATAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	35	35			NA	NA	1		NA											NA				237024431		2199	4298	6497	SO:0001587	stop_gained			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	4548	4548	2.1.1.13		7468	protein-coding gene	gene with protein product		156570			NA	8968735	Standard	NM_000254	NM_000254	NA	Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2050G>T	1.37:g.237024431G>T	ENSP00000355536:p.Glu684*	NA	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	37	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200572	0.97371	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	0.102591	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.8753	19.4279	0.94751	0.0:0.0:1.0:0.0	.	.	.	.	X	538;684;238	.	ENSP00000355535:E238X	E	+	1	0	MTR	235091054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.824000	0.97209	0.655000	0.94253	GAA	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096632.2		+	ENST00000366577.5	Nonsense_Mutation	SNP	1 : 237024431 - 237024431 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	238	12
MUM1	84939	broad.mit.edu	37	19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:1357015C>T	ENST00000415183.3	+	2	94	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_ENST00000591806.1_Missense_Mutation_p.A23V|MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000344663.3_Missense_Mutation_p.A23V			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	22					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGTTTTGGCCCGAACCGCG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	109	112			NA	NA	19		NA											NA				1357015		2203	4300	6503	SO:0001583	missense			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953	84939	84939			29641	protein-coding gene	gene with protein product					NA	11042152, 7644523	Standard	NM_032853	NM_032853	NA	Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.68C>T	19.37:g.1357015C>T	ENSP00000394925:p.Ala23Val	NA	A1L489|B5ME02|Q13109|Q5XKB9|Q8N2I4|Q96A67	37		.	.	.	.	.	.	.	.	.	.	C	12.76	2.035798	0.35893	.	.	ENSG00000160953	ENST00000344663;ENST00000356765;ENST00000415183	T;T	0.34072	1.38;1.38	5.2	1.58	0.23477	.	0.431802	0.21489	N	0.073707	T	0.34513	0.0900	L	0.55481	1.735	0.18873	N	0.999988	B;D	0.53151	0.319;0.958	B;P	0.47827	0.096;0.558	T	0.17077	-1.0381	10	0.54805	T	0.06	.	5.3598	0.16081	0.349:0.5509:0.0:0.1	.	23;22	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	V	23;49;23	ENSP00000345789:A23V;ENSP00000394925:A23V	ENSP00000345789:A23V	A	+	2	0	MUM1	1308015	0.026000	0.19158	0.128000	0.21923	0.067000	0.16453	0.698000	0.25571	0.185000	0.20105	0.655000	0.94253	GCC	MUM1-016	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449510.1		+	ENST00000415183.3	Missense_Mutation	SNP	19 : 1357015 - 1357015 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	340	6
MVB12B	89853	broad.mit.edu	37	9	129154466	129154466	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:129154466G>A	ENST00000361171.3	+	5	612	c.531G>A	c.(529-531)acG>acA	p.T177T	MVB12B_ENST00000545391.1_Silent_p.T177T|MVB12B_ENST00000535766.1_Silent_p.T170T|MVB12B_ENST00000436593.3_Silent_p.T162T	NM_033446.2	NP_258257.1			multivesicular body subunit 12B	NA											NA						CTCAGTACACGTTTATTGGGT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	90	89			NA	NA	9		NA											NA				129154466		2203	4300	6503	SO:0001819	synonymous_variant			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814	89853	89853			23368	protein-coding gene	gene with protein product			chromosome 9 open reading frame 28, family with sequence similarity 125, member B	C9orf28, FAM125B	NA	18005716, 20654576, 22232651	Standard	XM_088525	NM_033446	NA	Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.531G>A	9.37:g.129154466G>A		NA		37	CCDS35142.1																																																																																			MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054110.1		+	ENST00000361171.3	Silent	SNP	9 : 129154466 - 129154466 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	503	10
MYH4	4622	broad.mit.edu	37	17	10357158	10357158	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:10357158C>A	ENST00000255381.2	-	23	2846	c.2736G>T	c.(2734-2736)ttG>ttT	p.L912F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	912					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTTTTAATCAACTGATCAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													286	264	271			NA	NA	17		NA											NA				10357158		2203	4300	6503	SO:0001583	missense				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	4622	4622		Myosins / Myosin superfamily : Class II	7574	protein-coding gene	gene with protein product		160742	myosin, heavy polypeptide 4, skeletal muscle		NA	8518795	Standard	NM_017533	NM_017533	NA	Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2736G>T	17.37:g.10357158C>A	ENSP00000255381:p.Leu912Phe	NA		37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402888	0.42613	.	.	ENSG00000141048	ENST00000255381	D	0.95412	-3.7	5.43	-1.39	0.08997	.	0.000000	0.30639	U	0.009189	D	0.98157	0.9391	H	0.98786	4.33	0.44289	D	0.997154	D	0.89917	1.0	D	0.83275	0.996	D	0.95774	0.8811	10	0.87932	D	0	.	7.1582	0.25649	0.0:0.4773:0.2067:0.316	.	912	Q9Y623	MYH4_HUMAN	F	912	ENSP00000255381:L912F	ENSP00000255381:L912F	L	-	3	2	MYH4	10297883	0.989000	0.36119	0.401000	0.26359	0.842000	0.47809	0.287000	0.18920	-0.112000	0.11979	-0.886000	0.02939	TTG	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252731.1		-	ENST00000255381.2	Missense_Mutation	SNP	17 : 10357158 - 10357158 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	885	12
MYO18B	84700	broad.mit.edu	37	22	26219559	26219559	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:26219559C>T	ENST00000407587.2	+	13	2778	c.2609C>T	c.(2608-2610)aCc>aTc	p.T870I	MYO18B_ENST00000536101.1_Missense_Mutation_p.T870I|MYO18B_ENST00000335473.7_Missense_Mutation_p.T870I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	870	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.T870I(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACACGGCCACCTTCAAGCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											167	166	167			NA	NA	22		NA											NA				26219559		2100	4218	6318	SO:0001583	missense			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454	84700	84700		Myosins / Myosin superfamily : Class XVIII	18150	protein-coding gene	gene with protein product		607295			NA	12209013, 12547197	Standard	NM_032608	NM_032608	NA	Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2609C>T	22.37:g.26219559C>T	ENSP00000386096:p.Thr870Ile	NA	B2RWP3|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	37		.	.	.	.	.	.	.	.	.	.	C	13.11	2.139738	0.37728	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.69040	-0.37;-0.37;-0.37	4.73	3.47	0.39725	Myosin head, motor domain (2);	0.306844	0.29932	N	0.010821	T	0.54806	0.1881	L	0.28776	0.89	0.34621	D	0.718623	P;D;P;D	0.54207	0.708;0.965;0.946;0.957	B;P;P;P	0.52217	0.249;0.693;0.462;0.567	T	0.58864	-0.7561	10	0.13108	T	0.6	.	4.1753	0.10349	0.0:0.6771:0.0:0.3229	.	383;870;870;870	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	870	ENSP00000441229:T870I;ENSP00000334563:T870I;ENSP00000386096:T870I	ENSP00000334563:T870I	T	+	2	0	MYO18B	24549559	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	4.574000	0.60900	2.327000	0.79052	0.448000	0.29417	ACC	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000400691.1		+	ENST00000407587.2	Missense_Mutation	SNP	22 : 26219559 - 26219559 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	838	224
NACA2	342538	broad.mit.edu	37	17	59668349	59668349	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:59668349C>A	ENST00000521764.1	-	1	214	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	65					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TTTGCTTTACCGACTGGTTCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	171	177			NA	NA	17		NA											NA				59668349		2203	4300	6503	SO:0001583	missense			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506	342538	342538			23290	protein-coding gene	gene with protein product	alpha-NAC protein	609274	nascent-polypeptide-associated complex alpha polypeptide-like	NACAL	NA	12406326	Standard	NM_199290	NM_199290	NA	Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.193G>T	17.37:g.59668349C>A	ENSP00000427802:p.Gly65Cys	NA	Q2VIR9	37	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508495	0.44660	.	.	ENSG00000253506	ENST00000521764	T	0.45276	0.9	0.753	-0.473	0.12112	.	0.000000	0.85682	U	0.000000	T	0.16896	0.0406	N	0.08118	0	0.21220	N	0.999753	B	0.24317	0.101	B	0.24269	0.052	T	0.19321	-1.0309	9	.	.	.	.	5.1442	0.14975	0.0:0.4225:0.0:0.5775	.	65	Q9H009	NACA2_HUMAN	C	65	ENSP00000427802:G65C	.	G	-	1	0	NACA2	57023131	1.000000	0.71417	0.972000	0.41901	0.763000	0.43281	2.566000	0.45948	-0.880000	0.03997	-0.684000	0.03749	GGT	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255437.2		-	ENST00000521764.1	Missense_Mutation	SNP	17 : 59668349 - 59668349 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	837	12
NBN	4683	broad.mit.edu	37	8	90965576	90965576	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:90965576G>T	ENST00000265433.3	-	11	1895	c.1741C>A	c.(1741-1743)Caa>Aaa	p.Q581K	NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	581					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCTGTTTTTGAACTTTCACA	0.348		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													315	311	312			NA	NA	8		NA											NA				90965576		2203	4299	6502	SO:0001583	missense			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320	4683	4683			7652	protein-coding gene	gene with protein product		602667	Nijmegen breakage syndrome 1 (nibrin)	NBS, NBS1	NA	9590181, 9590180	Standard	NM_001024688	XM_005250923	NA	Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1741C>A	8.37:g.90965576G>T	ENSP00000265433:p.Gln581Lys	NA	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	37	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	7.975	0.749994	0.15778	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58060	1.99;0.36	5.29	0.895	0.19247	.	1.667470	0.02817	N	0.125095	T	0.38026	0.1025	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17349	-1.0372	10	0.12766	T	0.61	-0.018	9.8904	0.41288	0.0:0.5366:0.322:0.1413	.	581;581	A6H8Y5;O60934	.;NBN_HUMAN	K	581;499	ENSP00000265433:Q581K;ENSP00000386924:Q499K	ENSP00000265433:Q581K	Q	-	1	0	NBN	91034752	0.001000	0.12720	0.261000	0.24466	0.911000	0.54048	0.129000	0.15830	0.139000	0.18822	0.650000	0.86243	CAA	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331583.3		-	ENST00000265433.3	Missense_Mutation	SNP	8 : 90965576 - 90965576 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	830	16
NFATC3	4775	broad.mit.edu	37	16	68208395	68208395	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:68208395C>A	ENST00000575270.1	+	6	2231	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	NFATC3_ENST00000349223.5_Silent_p.I631I|NFATC3_ENST00000346183.3_Silent_p.I631I|NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR			Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	631					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AATCCAAAATCATTTTTCTTG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	130	127			NA	NA	16		NA											NA				68208395		2198	4300	6498	SO:0001819	synonymous_variant			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736	4775	4775		Nuclear factor of activated T-cells	7777	protein-coding gene	gene with protein product		602698			NA	7749981	Standard	NM_004555	NM_004555	NA	Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000575270.1:c.1893C>A	16.37:g.68208395C>A		NA	O75211|Q14516|Q99840|Q99841|Q99842	37																																																																																				NFATC3-023	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000436934.2		+	ENST00000575270.1	Silent	SNP	16 : 68208395 - 68208395 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	826	14
NGLY1	55768	broad.mit.edu	37	3	25770651	25770651	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:25770651G>T	ENST00000417874.2	-	10	1631	c.1458C>A	c.(1456-1458)ttC>ttA	p.F486L	NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.F528L|NGLY1_ENST00000428257.1_Missense_Mutation_p.F510L	NM_001145294.1	NP_001138766.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	528	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAACTTTTCTGAATATAGATT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	119	122			NA	NA	3		NA											NA				25770651		2202	4299	6501	SO:0001583	missense			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092	55768	55768			17646	protein-coding gene	gene with protein product		610661			NA		Standard		NM_018297	NA	Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000417874.2:c.1458C>A	3.37:g.25770651G>T	ENSP00000389888:p.Phe486Leu	NA	Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	37	CCDS46777.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857742	0.71834	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	5.82	4.0	0.46444	Peptide N glycanase, PAW domain (3);Galactose-binding domain-like (1);	0.199148	0.53938	D	0.000042	D	0.96706	0.8925	M	0.82193	2.58	0.80722	D	1	D;D;P;D	0.69078	0.997;0.966;0.937;0.993	P;P;P;P	0.61397	0.888;0.466;0.814;0.618	D	0.96101	0.9069	10	0.59425	D	0.04	-7.2391	7.6939	0.28583	0.1442:0.3228:0.533:0.0	.	486;510;528;528	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	L	510;528;528;507;486	ENSP00000387430:F510L;ENSP00000280700:F528L;ENSP00000307980:F507L;ENSP00000389888:F486L	ENSP00000280700:F528L	F	-	3	2	NGLY1	25745655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.762000	0.47597	1.439000	0.47511	0.561000	0.74099	TTC	NGLY1-008	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340839.2		-	ENST00000417874.2	Missense_Mutation	SNP	3 : 25770651 - 25770651 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	682	20
NOS3	4846	broad.mit.edu	37	7	150704202	150704202	+	Missense_Mutation	SNP	C	C	A	rs148623908		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:150704202C>A	ENST00000297494.3	+	17	2307	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L	NOS3_ENST00000461406.1_Missense_Mutation_p.F444L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	650	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TCTGTGTGTTCGGGCTCGGCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	102			NA	NA	7		NA											NA				150704202		2203	4300	6503	SO:0001583	missense				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	4846	4846	1.14.13.39		7876	protein-coding gene	gene with protein product	endothelial nitric oxide synthase	163729			NA	1379542	Standard	NM_000603	NM_000603	NA	Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1950C>A	7.37:g.150704202C>A	ENSP00000297494:p.Phe650Leu	NA	A8KA63|B2RCQ1|Q13662|Q14251|Q14434|Q548C1|Q6GSL5|Q9UDC6	37	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163531	0.57476	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.60299	0.2;0.2	4.92	-0.875	0.10628	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	D	0.000005	T	0.60196	0.2250	L	0.42529	1.33	0.80722	D	1	D;P	0.53462	0.96;0.837	P;P	0.62813	0.907;0.727	T	0.58769	-0.7578	10	0.66056	D	0.02	-15.7684	8.4022	0.32592	0.0:0.3284:0.0:0.6716	.	444;650	E7ESA7;P29474	.;NOS3_HUMAN	L	650;444	ENSP00000297494:F650L;ENSP00000417143:F444L	ENSP00000297494:F650L	F	+	3	2	NOS3	150335135	0.725000	0.28048	0.998000	0.56505	0.982000	0.71751	-0.144000	0.10280	-0.022000	0.13986	0.499000	0.49734	TTC	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350750.2		+	ENST00000297494.3	Missense_Mutation	SNP	7 : 150704202 - 150704202 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	962	10
NPM1	4869	broad.mit.edu	37	5	170827880	170827880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:170827880C>A	ENST00000296930.5	+	8	921	c.620C>A	c.(619-621)tCa>tAa	p.S207*	NPM1_ENST00000351986.6_Intron|NPM1_ENST00000517671.1_Nonsense_Mutation_p.S207*|NPM1_ENST00000393820.2_Nonsense_Mutation_p.S207*	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	207					anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCACAAAAGTCAAATCAGAAT	0.388		NA	T, F 	ALK, RARA, MLF1	NHL, APL, AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q35	4869	nucleophosmin (nucleolar phosphoprotein B23, numatrin)		L	0													75	74	74			NA	NA	5		NA											NA				170827880		2203	4300	6503	SO:0001587	stop_gained			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163	4869	4869			7910	protein-coding gene	gene with protein product	nucleolar phosphoprotein B23, numatrin, nucleophosmin/nucleoplasmin family, member 1	164040			NA	8471164, 8122112	Standard	NM_002520	NM_002520	NA	Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.620C>A	5.37:g.170827880C>A	ENSP00000296930:p.Ser207*	NA	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9UDJ7	37	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559008	0.97663	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000393820	.	.	.	4.39	4.39	0.52855	.	0.540943	0.18436	U	0.141282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0557	0.64767	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000296930:S207X	S	+	2	0	NPM1	170760485	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.156000	0.58138	2.150000	0.67090	0.561000	0.74099	TCA	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252858.2		+	ENST00000296930.5	Nonsense_Mutation	SNP	5 : 170827880 - 170827880 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	601	9
NUGGC	389643	broad.mit.edu	37	8	27927120	27927120	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:27927120C>G	ENST00000413272.2	-	4	340	c.198G>C	c.(196-198)caG>caC	p.Q66H	NUGGC_ENST00000341513.6_Missense_Mutation_p.Q66H	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated	NA											NA						GAATAAGTTTCTGATAAGTGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	138	139			NA	NA	8		NA											NA				27927120		1922	4138	6060	SO:0001583	missense			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233	389643	389643			33550	protein-coding gene	gene with protein product	speckled-like pattern in the germinal center		chromosome 8 open reading frame 80	C8orf80	NA	19734146	Standard	NM_001010906	NM_001010906	NA	Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.198G>C	8.37:g.27927120C>G	ENSP00000408697:p.Gln66His	NA		37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826699	0.71143	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.17054	2.3;2.3	5.49	4.6	0.57074	.	0.000000	0.64402	D	0.000010	T	0.28366	0.0701	L	0.36672	1.1	0.35510	D	0.800545	D	0.89917	1.0	D	0.75484	0.986	T	0.13926	-1.0491	10	0.59425	D	0.04	-16.1764	9.5385	0.39237	0.0:0.9061:0.0:0.0939	.	66	Q68CJ6	SLIP_HUMAN	H	66	ENSP00000408697:Q66H;ENSP00000345031:Q66H	ENSP00000345031:Q66H	Q	-	3	2	C8orf80	27983039	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.713000	0.37951	2.731000	0.93534	0.650000	0.86243	CAG	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342494.1		-	ENST00000413272.2	Missense_Mutation	SNP	8 : 27927120 - 27927120 G PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	582	104
OR6C75	390323	broad.mit.edu	37	12	55759411	55759411	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:55759411G>T	ENST00000343399.3	+	1	517	c.517G>T	c.(517-519)Gat>Tat	p.D173Y		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CAATGTAATTGATCATTTTAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	144	152			NA	NA	12		NA											NA				55759411		2203	4300	6503	SO:0001583	missense				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857	390323	390323		GPCR / Class A : Olfactory receptors	31304	protein-coding gene	gene with protein product					NA		Standard		NM_001005497	NA	Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.517G>T	12.37:g.55759411G>T	ENSP00000368987:p.Asp173Tyr	NA		37	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	g	16.20	3.056039	0.55325	.	.	ENSG00000187857	ENST00000343399	T	0.00193	8.58	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.129958	0.33854	N	0.004486	T	0.00552	0.0018	M	0.85462	2.755	0.32741	N	0.507645	D	0.89917	1.0	D	0.79108	0.992	T	0.43702	-0.9375	10	0.87932	D	0	.	10.4759	0.44665	0.1511:0.0:0.8489:0.0	.	173	A6NL08	O6C75_HUMAN	Y	173	ENSP00000368987:D173Y	ENSP00000368987:D173Y	D	+	1	0	OR6C75	54045678	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.165000	0.09968	2.725000	0.93324	0.632000	0.83419	GAT	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406418.1		+	ENST00000343399.3	Missense_Mutation	SNP	12 : 55759411 - 55759411 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	545	10
OR7G3	390883	broad.mit.edu	37	19	9237378	9237378	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:9237378C>A	ENST00000305444.2	-	1	248	c.249G>T	c.(247-249)gtG>gtT	p.V83V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCTGGATGTTCACCAGCATCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	125	134			NA	NA	19		NA											NA				9237378		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920	390883	390883		GPCR / Class A : Olfactory receptors	8467	protein-coding gene	gene with protein product					NA		Standard		NM_001001958	NA	Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.249G>T	19.37:g.9237378C>A		NA	Q6IFJ6|Q96R99	37	CCDS32899.1																																																																																			OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384611.1		-	ENST00000305444.2	Silent	SNP	19 : 9237378 - 9237378 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	701	12
PCDHA9	9752	broad.mit.edu	37	5	140228096	140228096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:140228096C>T	ENST00000532602.1	+	1	1049	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.R6*|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACTCAAGTCGAGGAGATCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0													84	87	86			NA	NA	5		NA											NA				140228096		2197	4269	6466	SO:0001587	stop_gained			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.16C>T	5.37:g.140228096C>T	ENSP00000436042:p.Arg6*	NA		37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	39	7.294141	0.98192	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	.	.	.	3.73	-0.921	0.10472	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4352	0.16478	0.4129:0.2254:0.3617:0.0	.	.	.	.	X	6	.	ENSP00000367362:R6X	R	+	1	2	PCDHA9	140208280	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.372000	0.07504	-0.010000	0.14271	0.591000	0.81541	CGA	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Nonsense_Mutation	SNP	5 : 140228096 - 140228096 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	869	92
PGR	5241	broad.mit.edu	37	11	100922228	100922228	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:100922228C>A	ENST00000325455.5	-	5	3737	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	PGR_ENST00000263463.5_Missense_Mutation_p.G660C|PGR_ENST00000534013.1_Missense_Mutation_p.G168C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	762	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CATCCTAGACCAAACACCATT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(124;2271 2354 21954 22882)							NA				0													119	117	118			NA	NA	11		NA											NA				100922228		2203	4300	6503	SO:0001583	missense			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175	5241	5241		Nuclear hormone receptors	8910	protein-coding gene	gene with protein product		607311			NA		Standard		NM_000926	NA	Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2284G>T	11.37:g.100922228C>A	ENSP00000325120:p.Gly762Cys	NA	A7X8B0|Q9UPF7	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616469	0.66672	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	D;D;D	0.96619	-4.07;-4.07;-4.07	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.119765	0.56097	D	0.000031	D	0.98052	0.9358	M	0.77406	2.37	0.27257	N	0.95872	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.99;0.997;0.969	D	0.94318	0.7551	10	0.66056	D	0.02	.	18.8379	0.92169	0.0:1.0:0.0:0.0	.	660;762;143	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	C	762;168;660;660	ENSP00000325120:G762C;ENSP00000436561:G168C;ENSP00000263463:G660C	ENSP00000263463:G660C	G	-	1	0	PGR	100427438	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.049000	0.57397	2.435000	0.82474	0.650000	0.86243	GGT	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394934.1		-	ENST00000325455.5	Missense_Mutation	SNP	11 : 100922228 - 100922228 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	859	8
PIGB	9488	broad.mit.edu	37	15	55642957	55642957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:55642957C>A	ENST00000164305.5	+	10	1475	c.1184C>A	c.(1183-1185)tCa>tAa	p.S395*	PIGB_ENST00000539642.1_Nonsense_Mutation_p.S200*	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	395					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTGTTTTTATCAAATTTGTTC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	149	149			NA	NA	15		NA											NA				55642957		1821	4071	5892	SO:0001587	stop_gained			D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943	9488	9488		Dolichyl D-mannosyl phosphate dependent mannosyltransferases, Phosphatidylinositol glycan anchor biosynthesis	8959	protein-coding gene	gene with protein product	GPI mannosyltransferase 3, dol-P-Man dependent GPI mannosyltransferase	604122	phosphatidylinositol glycan, class B		NA	8861954	Standard	NM_004855	NM_004855	NA	Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1184C>A	15.37:g.55642957C>A	ENSP00000164305:p.Ser395*	NA	Q53FF9|Q8WVN7	37		.	.	.	.	.	.	.	.	.	.	C	40	8.168956	0.98688	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	.	.	.	6.08	5.16	0.70880	.	0.432063	0.25863	N	0.027801	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.2184	14.3722	0.66849	0.0:0.9296:0.0:0.0704	.	.	.	.	X	395;200	.	ENSP00000164305:S395X	S	+	2	0	PIGB	53430249	1.000000	0.71417	0.875000	0.34327	0.980000	0.70556	3.396000	0.52565	1.575000	0.49775	0.591000	0.81541	TCA	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000419687.1		+	ENST00000164305.5	Nonsense_Mutation	SNP	15 : 55642957 - 55642957 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	888	13
PLEKHG1	57480	broad.mit.edu	37	6	151153189	151153189	+	Missense_Mutation	SNP	G	G	A	rs113595784		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:151153189G>A	ENST00000358517.2	+	15	3153	c.2942G>A	c.(2941-2943)cGg>cAg	p.R981Q	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R981Q			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	981					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGATGGCTCGGCAGTACAGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	123	118			NA	NA	6		NA											NA				151153189		2203	4300	6503	SO:0001583	missense			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278	57480	57480		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	20884	protein-coding gene	gene with protein product					NA	10574462	Standard		XM_005267064	NA	Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2942G>A	6.37:g.151153189G>A	ENSP00000351318:p.Arg981Gln	NA	Q5T1F2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451520	0.96205	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.30448	1.53;1.53	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.68952	2.095	0.52501	D	0.999954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.51108	-0.8747	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	788;981;981	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Q	981	ENSP00000356297:R981Q;ENSP00000351318:R981Q	ENSP00000351318:R981Q	R	+	2	0	PLEKHG1	151194882	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	CGG	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042691.1		+	ENST00000358517.2	Missense_Mutation	SNP	6 : 151153189 - 151153189 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	773	12
PMFBP1	83449	broad.mit.edu	37	16	72174339	72174339	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:72174339C>A	ENST00000537465.1	-	6	937	c.779G>T	c.(778-780)cGa>cTa	p.R260L	PMFBP1_ENST00000237353.10_Missense_Mutation_p.R260L|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R115L			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	260										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CAGCTTATTTCGAAGTTCTTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													320	309	313			NA	NA	16		NA											NA				72174339		2198	4300	6498	SO:0001583	missense			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557	83449	83449			17728	protein-coding gene	gene with protein product					NA	11468771	Standard	NM_031293	NM_031293	NA	Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537465.1:c.779G>T	16.37:g.72174339C>A	ENSP00000443817:p.Arg260Leu	NA	Q8NA09|Q9BY16|Q9H0H4	37		.	.	.	.	.	.	.	.	.	.	C	22.5	4.300024	0.81136	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.17691	2.3;2.31;2.26	5.65	4.7	0.59300	.	0.000000	0.43260	D	0.000597	T	0.25975	0.0633	N	0.24115	0.695	0.39237	D	0.96379	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.08310	-1.0728	10	0.66056	D	0.02	-13.1898	10.3026	0.43661	0.0:0.9122:0.0:0.0878	.	260;260;260	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	L	260;260;115	ENSP00000443817:R260L;ENSP00000237353:R260L;ENSP00000347854:R115L	ENSP00000237353:R260L	R	-	2	0	PMFBP1	70731840	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.347000	0.52200	1.621000	0.50320	0.655000	0.94253	CGA	PMFBP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000396483.2		-	ENST00000537465.1	Missense_Mutation	SNP	16 : 72174339 - 72174339 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1548	13
POLR2A	5430	broad.mit.edu	37	17	7405902	7405902	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:7405902C>T	ENST00000322644.6	+	16	3037	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	880					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCGACTGTGCGGAACTCCAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	89	93			NA	NA	17		NA											NA				7405902		2203	4300	6503	SO:0001583	missense					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	5430	5430	2.7.7.6	RNA polymerase subunits	9187	protein-coding gene	gene with protein product	DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit, RNA polymerase II subunit B1	180660	polymerase (RNA) II (DNA directed) polypeptide A (220kD)	POLR2	NA		Standard	NM_000937	NM_000937	NA	Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2638C>T	17.37:g.7405902C>T	ENSP00000314949:p.Arg880Trp	NA	A6NN93|B9EH88	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240160	0.58995	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.74209	-0.82	5.82	0.84	0.18912	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94164	0.7417	10	0.87932	D	0	-8.9938	16.4899	0.84198	0.586:0.414:0.0:0.0	.	880	P24928	RPB1_HUMAN	W	836;880	ENSP00000314949:R880W	ENSP00000314949:R880W	R	+	1	2	SLC35G6	7346626	0.997000	0.39634	0.583000	0.28640	0.434000	0.31775	0.766000	0.26560	-0.013000	0.14199	-0.808000	0.03180	CGG	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437967.1		+	ENST00000322644.6	Missense_Mutation	SNP	17 : 7405902 - 7405902 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	366	6
PPP1R2	5504	broad.mit.edu	37	3	195245823	195245823	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:195245823G>T	ENST00000328432.3	-	5	923	c.563C>A	c.(562-564)tCa>tAa	p.S188*		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	188					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ACCTTGATTTGATTCTTCCGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													232	232	232			NA	NA	3		NA											NA				195245823		2203	4300	6503	SO:0001587	stop_gained			U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	5504	5504	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9288	protein-coding gene	gene with protein product		601792			NA	9126490, 8119416	Standard	NM_006241	XM_006713682	NA	Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.563C>A	3.37:g.195245823G>T	ENSP00000328178:p.Ser188*	NA		37	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	G	37	6.356746	0.97502	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	4.93	4.93	0.64822	.	0.303685	0.31415	N	0.007686	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.375	0.66867	0.0:0.0:1.0:0.0	.	.	.	.	X	188;162	.	ENSP00000328178:S188X	S	-	2	0	PPP1R2	196727112	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.090000	0.41682	2.663000	0.90544	0.467000	0.42956	TCA	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342133.1		-	ENST00000328432.3	Nonsense_Mutation	SNP	3 : 195245823 - 195245823 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	550	13
PRDM2	7799	broad.mit.edu	37	1	14107823	14107823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:14107823C>A	ENST00000235372.7	+	8	4389	c.3533C>A	c.(3532-3534)tCa>tAa	p.S1178*	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.S977*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.S1178*|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.S977*|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1178						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACGGACTTGTCAGAACATCGC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	106	107			NA	NA	1		NA											NA				14107823		2203	4300	6503	SO:0001587	stop_gained			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731	7799	7799		Chromatin-modifying enzymes / K-methyltransferases	9347	protein-coding gene	gene with protein product	retinoblastoma protein-binding zinc finger protein, retinoblastoma protein-interacting zinc finger protein, MTE-binding protein, zinc-finger DNA-binding protein, GATA-3 binding protein G3B	601196			NA	7538672	Standard	NM_012231	NM_012231	NA	Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3533C>A	1.37:g.14107823C>A	ENSP00000235372:p.Ser1178*	NA	Q13149|Q14550|Q5VUL9	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	41	8.666899	0.98908	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	.	.	.	5.97	5.97	0.96955	.	0.079867	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	18.9918	0.92796	0.0:1.0:0.0:0.0	.	.	.	.	X	1178;1178;1178;977;977	.	ENSP00000235372:S1178X	S	+	2	0	PRDM2	13980410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.592000	0.67543	2.837000	0.97791	0.655000	0.94253	TCA	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021792.2		+	ENST00000235372.7	Nonsense_Mutation	SNP	1 : 14107823 - 14107823 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	791	11
PSD3	23362	broad.mit.edu	37	8	18393349	18393349	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:18393349C>A	ENST00000327040.8	-	16	3150	c.3048G>T	c.(3046-3048)ccG>ccT	p.P1016P	PSD3_ENST00000286485.8_Silent_p.P482P|PSD3_ENST00000428502.2_Silent_p.P345P|PSD3_ENST00000523619.1_Silent_p.P951P|PSD3_ENST00000440756.2_Silent_p.P1018P	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	1017					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGAAGTATCCGGGTTCAGCG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	162	174			NA	NA	8		NA											NA				18393349		2203	4300	6503	SO:0001819	synonymous_variant			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011	23362	23362		Pleckstrin homology (PH) domain containing	19093	protein-coding gene	gene with protein product		614440			NA		Standard	NM_015310	NM_206909	NA	Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.3048G>T	8.37:g.18393349C>A		NA	A6NFQ4|Q6B003|Q9Y2F1	37	CCDS43720.1																																																																																			PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374867.1		-	ENST00000327040.8	Silent	SNP	8 : 18393349 - 18393349 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	563	6
PTPRG	5793	broad.mit.edu	37	3	62268492	62268492	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:62268492G>A	ENST00000474889.1	+	28	4380	c.4003G>A	c.(4003-4005)Gtc>Atc	p.V1335I	PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.V1306I|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1335	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACTTATCAACGTCATCAAGGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	157	163			NA	NA	3		NA											NA				62268492		2203	4300	6503	SO:0001583	missense			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724	5793	5793		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9671	protein-coding gene	gene with protein product		176886		PTPG	NA	1711217	Standard	NM_002841	NM_002841	NA	Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.4003G>A	3.37:g.62268492G>A	ENSP00000418112:p.Val1335Ile	NA	B2RU12|Q15623|Q59EE0|Q68DU5	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036448	0.35893	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.83250	-1.7;-1.7	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.121307	0.56097	D	0.000033	T	0.56688	0.2002	N	0.00991	-1.07	0.58432	D	0.999999	B;P;B	0.39940	0.029;0.696;0.382	B;B;B	0.30401	0.011;0.115;0.036	T	0.65717	-0.6100	10	0.13853	T	0.58	.	19.3366	0.94322	0.0:0.0:1.0:0.0	.	581;1306;1335	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	I	1335;1306	ENSP00000418112:V1335I;ENSP00000295874:V1306I	ENSP00000295874:V1306I	V	+	1	0	PTPRG	62243532	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	6.473000	0.73572	2.799000	0.96334	0.650000	0.86243	GTC	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351674.1		+	ENST00000474889.1	Missense_Mutation	SNP	3 : 62268492 - 62268492 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1069	115
PTPRK	5796	broad.mit.edu	37	6	128404925	128404925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:128404925C>A	ENST00000368226.4	-	9	1825	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	PTPRK_ENST00000368227.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.E504*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*	NM_002844.3	NP_002835.2	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	504	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTTATTTTCAAAGGATGTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	103	103			NA	NA	6		NA											NA				128404925		2203	4299	6502	SO:0001587	stop_gained			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894	5796	5796		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9674	protein-coding gene	gene with protein product		602545			NA	9047348, 8663237	Standard		NM_002844	NA	Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368226.4:c.1510G>T	6.37:g.128404925C>A	ENSP00000357209:p.Glu504*	NA	Q14763|Q5TG10|Q5TG11	37	CCDS5137.1	.	.	.	.	.	.	.	.	.	.	C	39	7.548767	0.98352	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.	.	.	6.02	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	16.7022	0.85357	0.1306:0.8694:0.0:0.0	.	.	.	.	X	504;504;504;504;504;504;504;361	.	ENSP00000357190:E504X	E	-	1	0	PTPRK	128446618	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.625000	0.83145	1.527000	0.49086	-0.188000	0.12872	GAA	PTPRK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042161.2		-	ENST00000368226.4	Nonsense_Mutation	SNP	6 : 128404925 - 128404925 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	421	7
RALGPS2	55103	broad.mit.edu	37	1	178855151	178855151	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:178855151C>A	ENST00000367635.3	+	13	1426	c.1088C>A	c.(1087-1089)cCa>cAa	p.P363Q	RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363Q|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	363					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCAACGTTTCCAAATGCAGGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	78	77			NA	NA	1		NA											NA				178855151		2203	4300	6503	SO:0001583	missense			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191	55103	55103		Pleckstrin homology (PH) domain containing	30279	protein-coding gene	gene with protein product					NA	10747847, 12102558	Standard	NM_152663	NM_152663	NA	Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1088C>A	1.37:g.178855151C>A	ENSP00000356607:p.Pro363Gln	NA	Q5T5Z1|Q5VZ67|Q9NW78	37	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679844	0.88542	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.43688	0.94;0.94;0.94	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.71036	2.16	0.80722	D	1	D;P	0.59357	0.985;0.893	P;P	0.57057	0.812;0.614	T	0.63427	-0.6640	10	0.62326	D	0.03	.	19.1111	0.93317	0.0:1.0:0.0:0.0	.	363;363	B7Z7B1;Q86X27	.;RGPS2_HUMAN	Q	363;363;328;12	ENSP00000356607:P363Q;ENSP00000356606:P363Q;ENSP00000313613:P328Q	ENSP00000313613:P328Q	P	+	2	0	RALGPS2	177121774	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.318000	0.79029	2.623000	0.88846	0.655000	0.94253	CCA	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084926.2		+	ENST00000367635.3	Missense_Mutation	SNP	1 : 178855151 - 178855151 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	476	6
RAP1B	5908	broad.mit.edu	37	12	69050210	69050210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:69050210C>A	ENST00000250559.9	+	6	680	c.449C>A	c.(448-450)tCa>tAa	p.S150*	RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	150					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TCTGCAAAATCAAAAATAAAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	132	130			NA	NA	12		NA											NA				69050210		2202	4299	6501	SO:0001587	stop_gained				CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314	5908	5908			9857	protein-coding gene	gene with protein product		179530			NA	3137530, 12089143	Standard	NM_001010942	NM_015646	NA	Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.449C>A	12.37:g.69050210C>A	ENSP00000250559:p.Ser150*	NA	B2R5Z2|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	37	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817521	0.90790	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000541216	.	.	.	5.6	5.6	0.85130	.	0.136637	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	.	.	.	X	150;150;150;150;150;108;99;84;84;131;84;108;103;150	.	.	S	+	2	0	RAP1B	67336477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.532000	0.60608	2.802000	0.96397	0.561000	0.74099	TCA	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257821.3		+	ENST00000250559.9	Nonsense_Mutation	SNP	12 : 69050210 - 69050210 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	506	15
RASSF9	9182	broad.mit.edu	37	12	86198780	86198780	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:86198780C>A	ENST00000361228.3	-	2	1376	c.1008G>T	c.(1006-1008)ttG>ttT	p.L336F		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	336					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATGCCACTCAAATGAGAGT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	180	179			NA	NA	12		NA											NA				86198780		1850	4088	5938	SO:0001583	missense				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774	9182	9182			15739	protein-coding gene	gene with protein product		610383	peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor	PAMCI	NA	9837933, 18272789	Standard		NM_005447	NA	Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1008G>T	12.37:g.86198780C>A	ENSP00000354884:p.Leu336Phe	NA	B3KMQ4|Q8N5U8	37	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511967	0.27036	.	.	ENSG00000198774	ENST00000361228	T	0.55413	0.52	4.9	3.99	0.46301	.	0.372072	0.25205	U	0.032355	T	0.31104	0.0786	N	0.12746	0.255	0.35678	D	0.813822	P	0.35793	0.521	B	0.33121	0.158	T	0.45381	-0.9265	10	0.52906	T	0.07	-14.4116	9.0819	0.36556	0.147:0.774:0.0:0.0789	.	336	O75901	RASF9_HUMAN	F	336	ENSP00000354884:L336F	ENSP00000354884:L336F	L	-	3	2	RASSF9	84722911	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.819000	0.27308	2.419000	0.82065	0.650000	0.86243	TTG	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406109.1		-	ENST00000361228.3	Missense_Mutation	SNP	12 : 86198780 - 86198780 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	993	11
RBBP5	5929	broad.mit.edu	37	1	205073048	205073048	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:205073048C>A	ENST00000264515.6	-	5	600	c.459G>T	c.(457-459)ttG>ttT	p.L153F	RBBP5_ENST00000367164.1_Missense_Mutation_p.L153F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	153					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACAACGTTCAAATCGGAGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	196	199			NA	NA	1		NA											NA				205073048		2203	4300	6503	SO:0001583	missense			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222	5929	5929		WD repeat domain containing	9888	protein-coding gene	gene with protein product	SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)	600697	retinoblastoma-binding protein 5		NA	7558034	Standard	NM_005057	NM_005057	NA	Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.459G>T	1.37:g.205073048C>A	ENSP00000264515:p.Leu153Phe	NA	A8K272|Q7Z6D8|Q8NDZ7	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935417	0.34189	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.60920	0.15;0.17	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);	0.128869	0.53938	D	0.000056	T	0.69522	0.3120	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.69078	0.997;0.994;0.99;0.983	D;P;P;P	0.63597	0.916;0.854;0.88;0.762	T	0.66432	-0.5925	10	0.09843	T	0.71	.	9.3503	0.38133	0.0:0.6767:0.2503:0.073	.	26;188;153;153	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	F	153	ENSP00000264515:L153F;ENSP00000356132:L153F	ENSP00000264515:L153F	L	-	3	2	RBBP5	203339671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.139000	0.31504	2.937000	0.99478	0.650000	0.86243	TTG	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090077.1		-	ENST00000264515.6	Missense_Mutation	SNP	1 : 205073048 - 205073048 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	823	13
RNF139	11236	broad.mit.edu	37	8	125498200	125498200	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:125498200G>T	ENST00000303545.3	+	2	682	c.310G>T	c.(310-312)Gac>Tac	p.D104Y		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	104					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGCACATTGACTTCTATGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	156	165			NA	NA	8		NA											NA				125498200		2203	4300	6503	SO:0001583	missense			AF064801	CCDS6350.1	8q24	2013-01-09			ENSG00000170881	ENSG00000170881	11236	11236		RING-type (C3HC4) zinc fingers	17023	protein-coding gene	gene with protein product		603046			NA	9689122	Standard	NM_007218	NM_007218	NA	Approved	TRC8, RCA1, HRCA1	uc003yrc.3	Q8WU17	OTTHUMG00000165072	ENST00000303545.3:c.310G>T	8.37:g.125498200G>T	ENSP00000304051:p.Asp104Tyr	NA	B3KMD5|O75485|Q7LDL3	37	CCDS6350.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808629	0.50421	.	.	ENSG00000170881	ENST00000303545	T	0.26067	1.76	5.06	5.06	0.68205	.	0.102754	0.64402	D	0.000004	T	0.37320	0.0999	L	0.59436	1.845	0.52501	D	0.999959	D	0.61080	0.989	P	0.58077	0.832	T	0.18555	-1.0333	10	0.72032	D	0.01	-14.249	6.8961	0.24257	0.2166:0.0:0.7834:0.0	.	104	Q8WU17	RN139_HUMAN	Y	104	ENSP00000304051:D104Y	ENSP00000304051:D104Y	D	+	1	0	RNF139	125567381	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.790000	0.69038	2.501000	0.84356	0.650000	0.86243	GAC	RNF139-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381692.1		+	ENST00000303545.3	Missense_Mutation	SNP	8 : 125498200 - 125498200 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	689	15
RP1	6101	broad.mit.edu	37	8	55539537	55539537	+	Missense_Mutation	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:55539537A>G	ENST00000220676.1	+	4	3243	c.3095A>G	c.(3094-3096)aAt>aGt	p.N1032S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1032					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGCTATTAATGATCATAAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(91;1014 1389 7634 14542 40420)							NA				0													158	173	168			NA	NA	8		NA											NA				55539537		2203	4300	6503	SO:0001583	missense			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237	6101	6101			10263	protein-coding gene	gene with protein product		603937			NA	1783394	Standard	NM_006269	NM_006269	NA	Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3095A>G	8.37:g.55539537A>G	ENSP00000220676:p.Asn1032Ser	NA		37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	2.654	-0.281375	0.05642	.	.	ENSG00000104237	ENST00000220676	T	0.20881	2.04	5.32	1.41	0.22369	.	0.779574	0.11892	N	0.519542	T	0.08891	0.0220	N	0.04959	-0.14	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.29150	-1.0021	10	0.41790	T	0.15	.	3.9076	0.09190	0.5898:0.0:0.2595:0.1508	.	1032	P56715	RP1_HUMAN	S	1032	ENSP00000220676:N1032S	ENSP00000220676:N1032S	N	+	2	0	RP1	55702090	0.000000	0.05858	0.006000	0.13384	0.072000	0.16883	-0.139000	0.10358	0.435000	0.26365	0.533000	0.62120	AAT	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378532.2		+	ENST00000220676.1	Missense_Mutation	SNP	8 : 55539537 - 55539537 G PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	888	233
RP11-47I22.4	0	broad.mit.edu	37	14	62014550	62014550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:62014550C>A	ENST00000556347.1	+	3	365	c.365C>A	c.(364-366)tCg>tAg	p.S122*	PRKCH_ENST00000555082.1_Silent_p.I456I|PRKCH_ENST00000332981.5_Silent_p.I617I|PRKCH_ENST00000556245.1_3'UTR						NA											NA						TTAAGGAAATCGACTGGGCCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	185	185			NA	NA	14		NA											NA				62014550		2203	4300	6503	SO:0001587	stop_gained											NA	NA			NA							NA					NA						ENST00000556347.1:c.365C>A	14.37:g.62014550C>A	ENSP00000452401:p.Ser122*	NA		37		.	.	.	.	.	.	.	.	.	.	C	11.39	1.625782	0.28889	.	.	ENSG00000258989	ENST00000556347	.	.	.	5.99	-3.06	0.05379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7596	0.05302	0.0995:0.3258:0.1509:0.4239	.	.	.	.	X	122	.	.	S	+	2	0	RP11-47I22.4	61084303	0.006000	0.16342	0.993000	0.49108	0.997000	0.91878	-1.142000	0.03203	-0.205000	0.10219	0.655000	0.94253	TCG	RP11-47I22.4-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000413996.1		+	ENST00000556347.1	Nonsense_Mutation	SNP	14 : 62014550 - 62014550 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1211	17
RPS6KA6	27330	broad.mit.edu	37	X	83372157	83372157	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:83372157C>A	ENST00000262752.2	-	11	868		c.e11-1		RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	NA					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGTTTTGCTCTGAAACAGAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	40	41			NA	NA	X		NA											NA				83372157		2202	4294	6496	SO:0001630	splice_region_variant			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133	27330	27330			10435	protein-coding gene	gene with protein product		300303	ribosomal protein S6 kinase, 90kD, polypeptide 6		NA	10644430	Standard	NM_014496	NM_014496	NA	Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.861-1G>T	X.37:g.83372157C>A		NA	B2R854|Q6FHX2|Q8WX28|Q9H4S6	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869083	0.72065	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0306	0.86460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA6	83258813	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.552000	0.82192	2.028000	0.59812	0.600000	0.82982	.	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057372.1	Intron	-	ENST00000262752.2	Splice_Site	SNP	X : 83372157 - 83372157 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	219	6
SBDS	51119	broad.mit.edu	37	7	66458225	66458225	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:66458225G>T	ENST00000246868.2	-	3	621	c.438C>A	c.(436-438)acC>acA	p.T146T		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	146				T -> P (in Ref. 2; AAD34092).	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TACTCTTGTTGGTTTTCACCG	0.393		NA	Gene Conversion			AML, MDS			Shwachman-Diamond syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													268	243	252			NA	NA	7		NA											NA				66458225		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524	51119	51119			19440	protein-coding gene	gene with protein product		607444			NA	12496757	Standard	NM_016038	NM_016038	NA	Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.438C>A	7.37:g.66458225G>T		NA	A8K0P4|Q96FX0|Q9NV53	37	CCDS5537.1																																																																																			SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251746.2		-	ENST00000246868.2	Silent	SNP	7 : 66458225 - 66458225 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1255	11
SCN2A	6326	broad.mit.edu	37	2	166226782	166226782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:166226782G>A	ENST00000375437.2	+	20	4112	c.3822G>A	c.(3820-3822)tgG>tgA	p.W1274*	SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000357398.3_Nonsense_Mutation_p.W1274*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1274					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCAATGCCTGGTGCTGGCTAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	190	195			NA	NA	2		NA											NA				166226782		2203	4300	6503	SO:0001587	stop_gained			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531	6326	6326		Sodium channels, Voltage-gated ion channels / Sodium channels	10588	protein-coding gene	gene with protein product		182390	sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha 1 polypeptide	SCN2A1, SCN2A2	NA	1317301, 16382098	Standard	NM_021007	XM_005246753	NA	Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3822G>A	2.37:g.166226782G>A	ENSP00000364586:p.Trp1274*	NA	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	44	10.760907	0.99463	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	X	1274	.	ENSP00000283256:W1274X	W	+	3	0	SCN2A	165935028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.833000	0.97629	0.585000	0.79938	TGG	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102659.2		+	ENST00000375437.2	Nonsense_Mutation	SNP	2 : 166226782 - 166226782 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1008	16
SEC23B	10483	broad.mit.edu	37	20	18492924	18492924	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:18492924C>A	ENST00000336714.3	+	3	709	c.277C>A	c.(277-279)Cag>Aag	p.Q93K	SEC23B_ENST00000262544.2_Missense_Mutation_p.Q93K|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q93K|SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377465.1_Missense_Mutation_p.Q93K	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	93					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCAAAGAAATCAGGTATGTGa	0.269		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	20		NA											NA				18492924		2198	4276	6474	SO:0001583	missense			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310	10483	10483			10702	protein-coding gene	gene with protein product		610512	Sec23 (S. cerevisiae) homolog B, congenital dyserythropoietic anemia, type II	CDAN2	NA	8898360, 10329445, 19621418	Standard		NM_032985	NA	Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.277C>A	20.37:g.18492924C>A	ENSP00000338844:p.Gln93Lys	NA	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	37	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058618	0.55325	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.33	5.33	0.75918	Zinc finger, Sec23/Sec24-type (2);	0.180852	0.49305	D	0.000141	T	0.70996	0.3288	L	0.31664	0.95	0.44424	D	0.997344	B;B	0.23990	0.095;0.023	B;B	0.29440	0.102;0.102	T	0.65857	-0.6066	10	0.36615	T	0.2	-14.7116	18.1847	0.89789	0.0:1.0:0.0:0.0	.	93;93	B4DJW8;Q15437	.;SC23B_HUMAN	K	93	ENSP00000403971:Q93K;ENSP00000338844:Q93K;ENSP00000262544:Q93K;ENSP00000366695:Q93K;ENSP00000366685:Q93K	ENSP00000262544:Q93K	Q	+	1	0	SEC23B	18440924	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.783000	0.68982	2.768000	0.95171	0.655000	0.94253	CAG	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078184.5		+	ENST00000336714.3	Missense_Mutation	SNP	20 : 18492924 - 18492924 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	526	9
SFXN4	119559	broad.mit.edu	37	10	120923683	120923683	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:120923683C>A	ENST00000355697.2	-	2	156	c.137G>T	c.(136-138)tGg>tTg	p.W46L	SFXN4_ENST00000330036.6_Missense_Mutation_p.W46L|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	46					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TAATTCTGTCCATTGAAGAAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	91	88			NA	NA	10		NA											NA				120923683		2203	4300	6503	SO:0001583	missense				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605	119559	119559		Sideroflexins	16088	protein-coding gene	gene with protein product		615564			NA	14756423	Standard	XM_058406	NM_213649	NA	Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.137G>T	10.37:g.120923683C>A	ENSP00000347924:p.Trp46Leu	NA	Q6WSU4|Q86TD9	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056769	0.36277	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.27402	1.67;1.67	4.29	4.29	0.51040	.	0.151299	0.47852	D	0.000202	T	0.30696	0.0773	M	0.65498	2.005	0.46149	D	0.99889	P	0.35793	0.521	B	0.31245	0.126	T	0.26189	-1.0110	10	0.62326	D	0.03	-4.1067	12.1773	0.54192	0.0:1.0:0.0:0.0	.	46	Q6P4A7	SFXN4_HUMAN	L	46	ENSP00000347924:W46L;ENSP00000333200:W46L	ENSP00000333200:W46L	W	-	2	0	SFXN4	120913673	1.000000	0.71417	0.989000	0.46669	0.573000	0.36030	3.338000	0.52128	2.239000	0.73571	0.449000	0.29647	TGG	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050642.3		-	ENST00000355697.2	Missense_Mutation	SNP	10 : 120923683 - 120923683 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	990	10
SHMT2	6472	broad.mit.edu	37	12	57626290	57626290	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:57626290C>A	ENST00000328923.3	+	6	1101	c.649C>A	c.(649-651)Cgg>Agg	p.R217R	SHMT2_ENST00000449049.3_Silent_p.R196R|SHMT2_ENST00000393827.4_Silent_p.R121R|SHMT2_ENST00000414700.3_Silent_p.R196R|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Silent_p.R196R|SHMT2_ENST00000557487.1_Silent_p.R207R	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	217						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCGACTTTTCCGGCCACGGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(150;1369 2416 49071 49364)							NA				0													101	100	100			NA	NA	12		NA											NA				57626290		2203	4300	6503	SO:0001819	synonymous_variant			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	6472	6472	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT	NA	8999870	Standard	NM_005412	NM_005412	NA	Approved		uc001snf.2	P34897		ENST00000328923.3:c.649C>A	12.37:g.57626290C>A		NA	O00740	37	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119947	0.20877	.	.	ENSG00000182199	ENST00000557529	.	.	.	5.09	3.19	0.36642	.	.	.	.	.	T	0.67515	0.2901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65340	-0.6192	4	.	.	.	-1.3088	13.288	0.60253	0.2884:0.7116:0.0:0.0	.	.	.	.	Q	16	.	.	P	+	2	0	SHMT2	55912557	1.000000	0.71417	0.993000	0.49108	0.866000	0.49608	1.494000	0.35616	0.796000	0.33947	0.563000	0.77884	CCG	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412525.2		+	ENST00000328923.3	Silent	SNP	12 : 57626290 - 57626290 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	813	10
SLC25A13	10165	broad.mit.edu	37	7	95818680	95818680	+	Missense_Mutation	SNP	A	A	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95818680A>C	ENST00000265631.5	-	9	995	c.859T>G	c.(859-861)Tta>Gta	p.L287V	SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V|SLC25A13_ENST00000416240.2_Missense_Mutation_p.L287V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	287					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGTCTGCTAAGGTCATACGT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	92	92			NA	NA	7		NA											NA				95818680		2203	4300	6503	SO:0001583	missense			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864	10165	10165		Solute carriers, EF-hand domain containing	10983	protein-coding gene	gene with protein product	mitochondrial aspartate glutamate carrier 2	603859	solute carrier family 25, member 13 (citrin)	CTLN2	NA	10369257	Standard	NM_014251	NM_014251	NA	Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.859T>G	7.37:g.95818680A>C	ENSP00000265631:p.Leu287Val	NA	O14566|O14575|Q9NZW1|Q9UNI7	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	A	8.292	0.818007	0.16607	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80653	-1.4;-1.39;-1.37	4.69	3.55	0.40652	EF-hand-like domain (1);	.	.	.	.	T	0.79678	0.4487	M	0.83223	2.63	0.42021	D	0.990984	B;B;B	0.25206	0.12;0.073;0.073	B;B;B	0.28916	0.096;0.044;0.044	T	0.76326	-0.3000	9	0.42905	T	0.14	-8.2043	6.7603	0.23536	0.7888:0.0:0.0753:0.1359	.	179;287;287	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	287;287;179	ENSP00000265631:L287V;ENSP00000400101:L287V;ENSP00000440484:L179V	ENSP00000265631:L287V	L	-	1	2	SLC25A13	95656616	0.324000	0.24652	1.000000	0.80357	0.164000	0.22412	1.072000	0.30678	1.129000	0.42072	0.533000	0.62120	TTA	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059395.2		-	ENST00000265631.5	Missense_Mutation	SNP	7 : 95818680 - 95818680 C PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	316	13
SLC25A13	10165	broad.mit.edu	37	7	95813702	95813702	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95813702C>T	ENST00000265631.5	-	11	1200	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	SLC25A13_ENST00000542654.1_Missense_Mutation_p.R247Q|SLC25A13_ENST00000416240.2_Missense_Mutation_p.R356Q			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	355					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GTTCTGCATTCGAGTTTTTAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	75	77			NA	NA	7		NA											NA				95813702		2203	4300	6503	SO:0001583	missense			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864	10165	10165		Solute carriers, EF-hand domain containing	10983	protein-coding gene	gene with protein product	mitochondrial aspartate glutamate carrier 2	603859	solute carrier family 25, member 13 (citrin)	CTLN2	NA	10369257	Standard	NM_014251	NM_014251	NA	Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1064G>A	7.37:g.95813702C>T	ENSP00000265631:p.Arg355Gln	NA	O14566|O14575|Q9NZW1|Q9UNI7	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952987	0.92660	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.83591	-1.74;-1.74;-1.74	4.56	3.68	0.42216	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	D	0.90728	0.7090	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.91822	0.5468	10	0.87932	D	0	-7.7694	12.8922	0.58078	0.0:0.9209:0.0:0.0791	.	247;356;355	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	Q	355;356;247	ENSP00000265631:R355Q;ENSP00000400101:R356Q;ENSP00000440484:R247Q	ENSP00000265631:R355Q	R	-	2	0	SLC25A13	95651638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	1.279000	0.44446	0.655000	0.94253	CGA	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059395.2		-	ENST00000265631.5	Missense_Mutation	SNP	7 : 95813702 - 95813702 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	376	73
SLIT2	9353	broad.mit.edu	37	4	20525792	20525792	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:20525792G>A	ENST00000504154.1	+	14	1682	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	477	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATTCCGTTGTTCAGGT	0.478		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.0011	SNP								NA				0													86	98	94			NA	NA	4		NA											NA				20525792		2203	4300	6503	SO:0001583	missense			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147	9353	9353			11086	protein-coding gene	gene with protein product		603746	slit (Drosophila) homolog 2	SLIL3	NA	9813312, 18269211	Standard		XM_005248211	NA	Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1430G>A	4.37:g.20525792G>A	ENSP00000422591:p.Arg477His	NA	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	37	CCDS3426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.335323	0.95758	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81163	-1.45;-1.46;-1.37;-1.43	5.93	5.93	0.95920	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.987;0.988	D	0.87886	0.2681	10	0.72032	D	0.01	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	477;477	O94813-3;O94813	.;SLIT2_HUMAN	H	477;477;481;481;481	ENSP00000427548:R477H;ENSP00000422591:R477H;ENSP00000273739:R481H;ENSP00000422261:R481H	ENSP00000273739:R481H	R	+	2	0	SLIT2	20134890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.805000	0.96524	0.655000	0.94253	CGT	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250396.2		+	ENST00000504154.1	Missense_Mutation	SNP	4 : 20525792 - 20525792 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	551	120
SLITRK5	26050	broad.mit.edu	37	13	88327922	88327922	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:88327922G>T	ENST00000325089.6	+	2	498	c.279G>T	c.(277-279)ttG>ttT	p.L93F	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	93						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAAACCTTTTGAACCGTCTCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	165	163			NA	NA	13		NA											NA				88327922		2203	4300	6503	SO:0001583	missense			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300	26050	26050			20295	protein-coding gene	gene with protein product		609680	leucine rich repeat containing 11	LRRC11	NA	10048485, 14557068	Standard		NM_015567	NA	Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.279G>T	13.37:g.88327922G>T	ENSP00000366283:p.Leu93Phe	NA	B3KNB8|Q5VT81	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261554	0.39995	.	.	ENSG00000165300	ENST00000325089	T	0.60424	0.19	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000003	T	0.70029	0.3177	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68610	-0.5363	9	.	.	.	-7.6811	11.1672	0.48550	0.0829:0.0:0.9171:0.0	.	93	O94991	SLIK5_HUMAN	F	93	ENSP00000366283:L93F	.	L	+	3	2	SLITRK5	87125923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.494000	0.35616	2.826000	0.97356	0.561000	0.74099	TTG	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045416.3		+	ENST00000325089.6	Missense_Mutation	SNP	13 : 88327922 - 88327922 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1209	14
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:48591918C>T	ENST00000588745.1	+	5	793	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	SMAD4_ENST00000342988.3_Missense_Mutation_p.R361C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C			Q13485	SMAD4_HUMAN	SMAD family member 4	361					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963						179	149	159			NA	NA	18		NA											NA				48591918		2203	4300	6503	SO:0001583	missense			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.793C>T	18.37:g.48591918C>T	ENSP00000464901:p.Arg265Cys	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Missense_Mutation	SNP	18 : 48591918 - 48591918 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	413	94
SPAG17	200162	broad.mit.edu	37	1	118598506	118598506	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118598506G>T	ENST00000336338.5	-	19	2637	c.2572C>A	c.(2572-2574)Caa>Aaa	p.Q858K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	858						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATCCAATCTTGAATAGATTTT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	103	101			NA	NA	1		NA											NA				118598506		2203	4300	6503	SO:0001583	missense				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761	200162	200162			26620	protein-coding gene	gene with protein product					NA		Standard	NM_206996	NM_206996	NA	Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2572C>A	1.37:g.118598506G>T	ENSP00000337804:p.Gln858Lys	NA	Q8NAZ1|Q9NT21	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803426	0.31869	.	.	ENSG00000155761	ENST00000336338	T	0.29655	1.56	5.35	3.41	0.39046	.	0.697933	0.14968	N	0.287983	T	0.16171	0.0389	L	0.47716	1.5	0.21878	N	0.999499	P	0.40180	0.705	B	0.41510	0.359	T	0.03993	-1.0986	10	0.45353	T	0.12	.	13.3002	0.60321	0.0:0.4907:0.5093:0.0	.	858	Q6Q759	SPG17_HUMAN	K	858	ENSP00000337804:Q858K	ENSP00000337804:Q858K	Q	-	1	0	SPAG17	118400029	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	1.567000	0.36407	0.770000	0.33336	0.585000	0.79938	CAA	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033723.1		-	ENST00000336338.5	Missense_Mutation	SNP	1 : 118598506 - 118598506 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	842	12
SPAG17	200162	broad.mit.edu	37	1	118616493	118616493	+	Missense_Mutation	SNP	G	G	T	rs146282295		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118616493G>T	ENST00000336338.5	-	17	2434	c.2369C>A	c.(2368-2370)cCg>cAg	p.P790Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	790						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGTACTTTCGGTTTAAAATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	156	159			NA	NA	1		NA											NA				118616493		2203	4300	6503	SO:0001583	missense				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761	200162	200162			26620	protein-coding gene	gene with protein product					NA		Standard	NM_206996	NM_206996	NA	Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2369C>A	1.37:g.118616493G>T	ENSP00000337804:p.Pro790Gln	NA	Q8NAZ1|Q9NT21	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828388	0.71143	.	.	ENSG00000155761	ENST00000336338	T	0.28454	1.61	5.35	5.35	0.76521	.	0.100758	0.64402	D	0.000001	T	0.50871	0.1641	M	0.71581	2.175	0.37958	D	0.932887	D	0.89917	1.0	D	0.91635	0.999	T	0.54275	-0.8318	10	0.72032	D	0.01	.	19.4213	0.94723	0.0:0.0:1.0:0.0	.	790	Q6Q759	SPG17_HUMAN	Q	790	ENSP00000337804:P790Q	ENSP00000337804:P790Q	P	-	2	0	SPAG17	118418016	1.000000	0.71417	0.954000	0.39281	0.901000	0.52897	5.245000	0.65405	2.669000	0.90835	0.650000	0.86243	CCG	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033723.1		-	ENST00000336338.5	Missense_Mutation	SNP	1 : 118616493 - 118616493 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	633	10
SPATA18	132671	broad.mit.edu	37	4	52960706	52960706	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:52960706G>A	ENST00000419395.2	+	11	1770	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	SPATA18_ENST00000295213.4_Missense_Mutation_p.R526Q			Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTCGAAGTCGGAGTCCTTCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	121	119			NA	NA	4		NA											NA				52960706		2203	4300	6503	SO:0001583	missense			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071	132671	132671			29579	protein-coding gene	gene with protein product		612814	spermatogenesis associated 18 homolog (rat)		NA	21300779	Standard	NM_145263	XR_245253	NA	Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000419395.2:c.1481G>A	4.37:g.52960706G>A	ENSP00000415309:p.Arg494Gln	NA	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	37		.	.	.	.	.	.	.	.	.	.	G	26.2	4.719010	0.89205	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.36340	1.26;1.29	4.84	4.84	0.62591	.	0.197922	0.43579	D	0.000555	T	0.55955	0.1953	M	0.61703	1.905	0.38418	D	0.946104	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.60459	-0.7259	10	0.66056	D	0.02	-9.9646	13.6443	0.62272	0.0:0.0:1.0:0.0	.	494;526	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	Q	526;494	ENSP00000295213:R526Q;ENSP00000415309:R494Q	ENSP00000295213:R526Q	R	+	2	0	SPATA18	52655463	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.694000	0.61760	2.677000	0.91161	0.655000	0.94253	CGG	SPATA18-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361442.1		+	ENST00000419395.2	Missense_Mutation	SNP	4 : 52960706 - 52960706 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	721	139
SPO11	23626	broad.mit.edu	37	20	55906923	55906923	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:55906923C>A	ENST00000371263.3	+	2	275	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K	SPO11_ENST00000345868.4_Intron|SPO11_ENST00000371260.4_Intron	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	56					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AAATATTATCCAAGACATAAT	0.323		NA						Editing and processing nucleases						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	142	138			NA	NA	20		NA											NA				55906923		2203	4300	6503	SO:0001583	missense			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796	23626	23626			11250	protein-coding gene	gene with protein product	cancer/testis antigen 35, spermatogenesis associated 43	605114	SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like, SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae), SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)		NA	10534401	Standard	NM_012444	NM_012444	NA	Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.166C>A	20.37:g.55906923C>A	ENSP00000360310:p.Gln56Lys	NA	Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	37	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602589	0.28534	.	.	ENSG00000054796	ENST00000371263;ENST00000418127	T;T	0.16196	2.36;2.36	5.42	4.46	0.54185	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.351271	0.29417	N	0.012207	T	0.15565	0.0375	L	0.54323	1.7	0.21933	N	0.99947	B	0.20887	0.049	B	0.14023	0.01	T	0.33317	-0.9873	10	0.06236	T	0.91	-7.2948	14.2671	0.66126	0.0:0.7184:0.2816:0.0	.	56	Q9Y5K1	SPO11_HUMAN	K	56;34	ENSP00000360310:Q56K;ENSP00000413185:Q34K	ENSP00000360310:Q56K	Q	+	1	0	SPO11	55340330	0.607000	0.26958	0.534000	0.28014	0.756000	0.42949	1.495000	0.35627	1.390000	0.46547	0.585000	0.79938	CAA	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079836.2		+	ENST00000371263.3	Missense_Mutation	SNP	20 : 55906923 - 55906923 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1241	12
ST6GAL1	6480	broad.mit.edu	37	3	186791961	186791961	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:186791961G>T	ENST00000169298.3	+	7	1493	c.819G>T	c.(817-819)ccG>ccT	p.P273P	ST6GAL1_ENST00000457772.2_Silent_p.P42P|ST6GAL1_ENST00000448044.1_Silent_p.P273P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	273					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ACCAGAATCCGGATTATAATT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	100	98			NA	NA	3		NA											NA				186791961		2203	4300	6503	SO:0001819	synonymous_variant			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	6480	6480	2.4.99.1		10860	protein-coding gene	gene with protein product	ST6Gal I	109675	sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)	SIAT1	NA	2408023	Standard	NM_173216	NM_003032	NA	Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.819G>T	3.37:g.186791961G>T		NA	A8KA14|D3DNV3	37	CCDS3285.1																																																																																			ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344399.1		+	ENST00000169298.3	Silent	SNP	3 : 186791961 - 186791961 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	648	9
SUCLA2	8803	broad.mit.edu	37	13	48570988	48570988	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:48570988G>T	ENST00000378654.3	-	2	317	c.261C>A	c.(259-261)gcC>gcA	p.A87A	SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000543413.1_Silent_p.A29A|SUCLA2_ENST00000534875.1_Silent_p.A29A|SUCLA2_ENST00000544100.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	87	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTAATTTTTTGGCAATTGCAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	121	123			NA	NA	13		NA											NA				48570988		2203	4300	6503	SO:0001819	synonymous_variant			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	8803	8803	6.2.1.5		11448	protein-coding gene	gene with protein product		603921			NA	9765291	Standard		NM_003850	NA	Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.261C>A	13.37:g.48570988G>T		NA	B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	37	CCDS9406.1																																																																																			SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044852.1		-	ENST00000378654.3	Silent	SNP	13 : 48570988 - 48570988 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	597	9
SUMO3	6612	broad.mit.edu	37	21	46233942	46233942	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:46233942G>T	ENST00000397898.3	-	2	181	c.99C>A	c.(97-99)atC>atA	p.I33I	SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.I33I|SUMO3_ENST00000397893.3_Silent_p.I33I|SUMO3_ENST00000332859.6_Silent_p.I33I			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	33	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		TGTGCCTCTTGATCTTGAACT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	158	165			NA	NA	21		NA											NA				46233942		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900	6612	6612			11124	protein-coding gene	gene with protein product		602231	SMT3 (suppressor of mif two 3, yeast) homolog 1, SMT3 suppressor of mif two 3 homolog 3 (yeast), SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)	SMT3H1	NA	9119407	Standard		NM_006936	NA	Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.99C>A	21.37:g.46233942G>T		NA	B2R5X4|Q53HI9|Q6FGD4|Q9BWR4	37																																																																																				SUMO3-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000206561.1		-	ENST00000397898.3	Silent	SNP	21 : 46233942 - 46233942 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	642	13
SYNRG	11276	broad.mit.edu	37	17	35902213	35902213	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:35902213C>A	ENST00000394378.2	-	14	2854	c.2829G>T	c.(2827-2829)tcG>tcT	p.S943S	SYNRG_ENST00000346661.4_Silent_p.S1021S|SYNRG_ENST00000339208.6_Silent_p.S1021S|SYNRG_ENST00000591288.1_Silent_p.S815S|SYNRG_ENST00000502449.2_Silent_p.S898S|SYNRG_ENST00000585472.1_Silent_p.S942S|SYNRG_ENST00000345615.4_Silent_p.S943S	NM_198882.1	NP_942583.1	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1021					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAGTCATCCGAACATTCGT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	90	89			NA	NA	17		NA											NA				35902213		2203	4300	6503	SO:0001819	synonymous_variant			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066	11276	11276			557	protein-coding gene	gene with protein product	gamma-synergin, adaptor-related protein complex 1 gamma subunit-binding protein 1	607291	AP1 gamma subunit binding protein 1	AP1GBP1	NA	10477754	Standard	NM_007247	XM_005256980	NA	Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000394378.2:c.2829G>T	17.37:g.35902213C>A		NA	B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	37	CCDS54114.1																																																																																			SYNRG-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359433.1		-	ENST00000394378.2	Silent	SNP	17 : 35902213 - 35902213 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	673	10
TACC2	10579	broad.mit.edu	37	10	123976332	123976332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:123976332C>A	ENST00000369005.1	+	11	7875	c.7535C>A	c.(7534-7536)tCa>tAa	p.S2512*	TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2512						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAATTCAGTTCACCCACTGAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	112	119			NA	NA	10		NA											NA				123976332		2203	4300	6503	SO:0001587	stop_gained			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162	10579	10579			11523	protein-coding gene	gene with protein product		605302			NA	14767476	Standard		XM_005269388	NA	Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7535C>A	10.37:g.123976332C>A	ENSP00000358001:p.Ser2512*	NA	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	41	8.660008	0.98903	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	.	.	.	5.64	5.64	0.86602	.	0.000000	0.30356	N	0.009802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0877	19.7186	0.96134	0.0:1.0:0.0:0.0	.	.	.	.	X	2512;658;2516;2467;2512;658;2516;2502;216;212;590;602;602;590;607;247;92	.	ENSP00000260733:S590X	S	+	2	0	TACC2	123966322	1.000000	0.71417	0.273000	0.24645	0.801000	0.45260	4.972000	0.63756	2.659000	0.90383	0.655000	0.94253	TCA	TACC2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090004.1		+	ENST00000369005.1	Nonsense_Mutation	SNP	10 : 123976332 - 123976332 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	429	11
TAOK2	9344	broad.mit.edu	37	16	30000991	30000991	+	Silent	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:30000991A>G	ENST00000279394.3	+	17	2713	c.2310A>G	c.(2308-2310)gcA>gcG	p.A770A		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	648					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTCTGCGAGCACACTTGCTGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	67	71			NA	NA	16		NA											NA				30000991		2197	4300	6497	SO:0001819	synonymous_variant			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930	9344	9344			16835	protein-coding gene	gene with protein product		613199			NA	10048485, 9786855	Standard	NM_016151	NM_016151	NA	Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000279394.3:c.2310A>G	16.37:g.30000991A>G		NA	A5PKY1|A7MCZ2|B2RN35|O94957|Q6UW73|Q7LC09|Q9NSW2	37	CCDS10662.1																																																																																			TAOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255151.1		+	ENST00000279394.3	Silent	SNP	16 : 30000991 - 30000991 G PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	256	41
TBC1D3F	84218	broad.mit.edu	37	17	36288200	36288200	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:36288200G>T	ENST00000505415.1	+	5	1040	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	TBC1D3F_ENST00000539424.1_Missense_Mutation_p.D16Y|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.D96Y|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.D96Y			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	96						intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						ACAGCTCATAGATCGAGCGTA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	67	77			NA	NA	17		NA											NA				36288200		876	1983	2859	SO:0001583	missense					17q12	2014-09-16				ENSG00000275954	84218	84218			18257	protein-coding gene	gene with protein product		610809			NA	16863688	Standard	NM_032258.2	NM_032258	NA	Approved			A6NER0	OTTHUMG00000188428	ENST00000505415.1:c.286G>T	17.37:g.36288200G>T	ENSP00000421962:p.Asp96Tyr	NA		37		.	.	.	.	.	.	.	.	.	.	g	10.12	1.263192	0.23051	.	.	ENSG00000185128	ENST00000327454;ENST00000378174;ENST00000505415;ENST00000539424	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	.	.	.	Rab-GAP/TBC domain (2);	20.140600	0.01652	U	0.024604	T	0.48223	0.1488	M	0.61703	1.905	0.26175	N	0.979819	P;D;P;D	0.71674	0.629;0.996;0.835;0.998	B;P;P;P	0.62089	0.122;0.885;0.547;0.898	T	0.33292	-0.9874	9	0.66056	D	0.02	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	96;96;96;96	B9A6J9;A6NFD7;P0C7X1;A6NER0	.;.;TBC3H_HUMAN;TBC3F_HUMAN	Y	96;96;96;16	ENSP00000329256:D96Y;ENSP00000367416:D96Y;ENSP00000421962:D96Y;ENSP00000443859:D16Y	ENSP00000329256:D96Y	D	+	1	0	TBC1D3F	33362582	1.000000	0.71417	0.115000	0.21578	0.115000	0.19883	3.514000	0.53422	0.119000	0.18210	0.121000	0.15741	GAT	TBC1D3F-002	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000256101.4		+	ENST00000505415.1	Missense_Mutation	SNP	17 : 36288200 - 36288200 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	2134	17
TCP1	6950	broad.mit.edu	37	6	160202137	160202137	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:160202137G>A	ENST00000321394.7	-	8	1083	c.803C>T	c.(802-804)tCa>tTa	p.S268L	TCP1_ENST00000392168.2_Missense_Mutation_p.S113L|TCP1_ENST00000420894.2_Missense_Mutation_p.S268L|TCP1_ENST00000544255.1_Missense_Mutation_p.S44L	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	268					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GGTGATATCTGATTCTCTGCA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	142	144			NA	NA	6		NA											NA				160202137		2203	4300	6503	SO:0001583	missense			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438	6950	6950		Heat Shock Proteins / Chaperonins	11655	protein-coding gene	gene with protein product		186980			NA	3476253, 3653076	Standard	NM_030752	NM_030752	NA	Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.803C>T	6.37:g.160202137G>A	ENSP00000317334:p.Ser268Leu	NA	E1P5B2|Q15556|Q5TCM3	37	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264755	0.40095	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168;ENST00000539756	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.63	5.63	0.86233	.	0.054590	0.85682	D	0.000000	T	0.43722	0.1260	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.14578	0.002;0.011	T	0.50381	-0.8835	10	0.10902	T	0.67	-8.3473	19.6959	0.96026	0.0:0.0:1.0:0.0	.	268;268	E7ERF2;P17987	.;TCPA_HUMAN	L	268;44;268;113;66	ENSP00000317334:S268L;ENSP00000439447:S44L;ENSP00000390159:S268L;ENSP00000376008:S113L;ENSP00000441345:S66L	ENSP00000317334:S268L	S	-	2	0	TCP1	160122127	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	7.367000	0.79558	2.659000	0.90383	0.650000	0.86243	TCA	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042917.2		-	ENST00000321394.7	Missense_Mutation	SNP	6 : 160202137 - 160202137 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	687	75
TIFA	92610	broad.mit.edu	37	4	113199421	113199421	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:113199421C>A	ENST00000361717.3	-	2	433	c.152G>T	c.(151-153)cGa>cTa	p.R51L	TIFA_ENST00000500655.2_Missense_Mutation_p.R51L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	NA	FHA.						protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		GTTGGAATTTCGGCCAAATTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	91	88			NA	NA	4		NA											NA				113199421		2199	4295	6494	SO:0001583	missense			BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365	92610	92610			19075	protein-coding gene	gene with protein product	TRAF2 binding protein, TRAF6 binding protein	609028			NA	1179819	Standard	NM_052864	NM_052864	NA	Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.152G>T	4.37:g.113199421C>A	ENSP00000354911:p.Arg51Leu	NA		37	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038362	0.93630	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.74106	-0.81;-0.81	5.92	5.92	0.95590	Forkhead-associated (FHA) domain (4);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87214	0.2249	10	0.87932	D	0	-16.928	20.3343	0.98733	0.0:1.0:0.0:0.0	.	51	Q96CG3	TIFA_HUMAN	L	51	ENSP00000354911:R51L;ENSP00000424231:R51L	ENSP00000354911:R51L	R	-	2	0	TIFA	113418870	0.999000	0.42202	0.960000	0.40013	0.980000	0.70556	4.514000	0.60482	2.822000	0.97130	0.650000	0.86243	CGA	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363647.2		-	ENST00000361717.3	Missense_Mutation	SNP	4 : 113199421 - 113199421 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	887	14
TMEM131	23505	broad.mit.edu	37	2	98422018	98422018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:98422018G>T	ENST00000186436.5	-	20	2432	c.2204C>A	c.(2203-2205)tCa>tAa	p.S735*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	735						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCAAACCTTTGATTTTTTTCC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	188	184			NA	NA	2		NA											NA				98422018		1805	4073	5878	SO:0001587	stop_gained			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568	23505	23505			30366	protein-coding gene	gene with protein product		615659			NA	9039502, 10996388	Standard	XM_371542	NM_015348	NA	Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2204C>A	2.37:g.98422018G>T	ENSP00000186436:p.Ser735*	NA		37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	42	9.342510	0.99142	.	.	ENSG00000075568	ENST00000186436	.	.	.	6.07	6.07	0.98685	.	0.120296	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5958	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	735	.	ENSP00000186436:S735X	S	-	2	0	TMEM131	97788450	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	TCA	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329285.2		-	ENST00000186436.5	Nonsense_Mutation	SNP	2 : 98422018 - 98422018 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	980	28
TMF1	7110	broad.mit.edu	37	3	69073265	69073265	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:69073265G>T	ENST00000398559.2	-	16	3295	c.3079C>A	c.(3079-3081)Caa>Aaa	p.Q1027K	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.Q1030K|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1027					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.Q1027E(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCATTTTGATTTGTTAAT	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	cervix(1)											167	154	158			NA	NA	3		NA											NA				69073265		1831	4077	5908	SO:0001583	missense				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747	7110	7110			11870	protein-coding gene	gene with protein product		601126			NA	1409643	Standard	NM_007114	NM_007114	NA	Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3079C>A	3.37:g.69073265G>T	ENSP00000381567:p.Gln1027Lys	NA	B7ZLJ2|Q17R87|Q59GK0	37	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033173	0.35893	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	D;D	0.83335	-1.71;-1.71	5.59	5.59	0.84812	.	0.211058	0.42964	D	0.000637	T	0.75561	0.3866	L	0.41492	1.28	0.44834	D	0.997846	P;P	0.42871	0.792;0.454	B;B	0.34931	0.173;0.192	T	0.73805	-0.3867	10	0.16896	T	0.51	-16.7561	19.6022	0.95568	0.0:0.0:1.0:0.0	.	1030;1027	P82094-2;P82094	.;TMF1_HUMAN	K	1027;1030;943	ENSP00000381567:Q1027K;ENSP00000438706:Q1030K	ENSP00000348582:Q943K	Q	-	1	0	TMF1	69155955	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.293000	0.78740	2.620000	0.88729	0.557000	0.71058	CAA	TMF1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352106.1		-	ENST00000398559.2	Missense_Mutation	SNP	3 : 69073265 - 69073265 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	748	17
TNRC6B	23112	broad.mit.edu	37	22	40662002	40662002	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:40662002C>T	ENST00000335727.9	+	5	1962	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	TNRC6B_ENST00000454349.2_Missense_Mutation_p.R590C|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_015088.2	NP_055903.2	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	NA					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TAACTCTGGCCGTCGGTCGTA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	113	111			NA	NA	22		NA											NA				40662002		2001	4172	6173	SO:0001583	missense			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354	23112	23112		Trinucleotide (CAG) repeat containing	29190	protein-coding gene	gene with protein product		610740			NA		Standard		NM_015088	NA	Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000335727.9:c.1768C>T	22.37:g.40662002C>T	ENSP00000338371:p.Arg590Cys	NA	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	37	CCDS46713.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539333	0.45176	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.14022	2.56;2.54	5.53	5.53	0.82687	.	0.106556	0.64402	D	0.000003	T	0.23965	0.0580	N	0.22421	0.69	0.50467	D	0.999871	D;D;D	0.89917	1.0;0.998;0.996	D;B;P	0.76575	0.988;0.446;0.649	T	0.01276	-1.1398	10	0.56958	D	0.05	-4.2093	14.3069	0.66391	0.1485:0.8515:0.0:0.0	.	590;590;590	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	C	590	ENSP00000401946:R590C;ENSP00000338371:R590C	ENSP00000338371:R590C	R	+	1	0	TNRC6B	38991948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.492000	0.53259	2.607000	0.88179	0.555000	0.69702	CGT	TNRC6B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321394.2		+	ENST00000335727.9	Missense_Mutation	SNP	22 : 40662002 - 40662002 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	797	89
TRIP10	9322	broad.mit.edu	37	19	6750327	6750327	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:6750327C>A	ENST00000600428.1	+	12	1574	c.928C>A	c.(928-930)Cga>Aga	p.R310R	TRIP10_ENST00000596758.1_Silent_p.R418R|TRIP10_ENST00000313244.9_Silent_p.R474R|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Silent_p.R418R			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	474	Interaction with CDC42.|Interaction with PDE6G (By similarity).			L -> P (in Ref. 2; AAK77492).	actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	p.R418G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGCTGAAAGTCGAGTCCTTAG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	breast(1)											55	64	61			NA	NA	19		NA											NA				6750327		2203	4300	6503	SO:0001819	synonymous_variant			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733	9322	9322			12304	protein-coding gene	gene with protein product	Cdc42-interacting protein	604504	salt tolerator	STOT	NA	7776974, 9210375, 11294612	Standard		XM_005259683	NA	Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000600428.1:c.928C>A	19.37:g.6750327C>A		NA	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	37																																																																																				TRIP10-014	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000458012.1		+	ENST00000600428.1	Silent	SNP	19 : 6750327 - 6750327 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	552	7
TRMT13	54482	broad.mit.edu	37	1	100602634	100602634	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:100602634C>A	ENST00000370141.2	+	3	260	c.254C>A	c.(253-255)cCa>cAa	p.P85Q	TRMT13_ENST00000370139.1_Missense_Mutation_p.P54Q|TRMT13_ENST00000370143.1_Missense_Mutation_p.P85Q	NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)	NA											NA						AGAGAGAAACCAAAACCTGTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	87	86			NA	NA	1		NA											NA				100602634		2203	4300	6503	SO:0001583	missense			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435	54482	54482			25502	protein-coding gene	gene with protein product			coiled-coil domain containing 76	CCDC76	NA	11799066	Standard	NM_019083	NM_019083	NA	Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.254C>A	1.37:g.100602634C>A	ENSP00000359160:p.Pro85Gln	NA		37	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326621	0.81690	.	.	ENSG00000122435	ENST00000370143;ENST00000370141;ENST00000370139	T;T;T	0.42513	1.03;1.02;0.97	5.78	5.78	0.91487	.	0.048914	0.85682	D	0.000000	T	0.52757	0.1754	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.73380	0.88;0.98	T	0.30995	-0.9959	10	0.23302	T	0.38	-10.4814	19.5995	0.95554	0.0:1.0:0.0:0.0	.	85;85	B4DQS9;Q9NUP7	.;TRM13_HUMAN	Q	85;85;54	ENSP00000359162:P85Q;ENSP00000359160:P85Q;ENSP00000359158:P54Q	ENSP00000359158:P54Q	P	+	2	0	CCDC76	100375222	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.923000	0.75817	2.714000	0.92807	0.650000	0.86243	CCA	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029919.1		+	ENST00000370141.2	Missense_Mutation	SNP	1 : 100602634 - 100602634 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	907	13
TRPM7	54822	broad.mit.edu	37	15	50929637	50929637	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:50929637G>T	ENST00000313478.7	-	7	1095	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	TRPM7_ENST00000560955.1_Missense_Mutation_p.Q272K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	272					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTCTTTGCTGATTAATAGTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	84	85			NA	NA	15		NA											NA				50929637		1853	4089	5942	SO:0001583	missense			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439	54822	54822		Voltage-gated ion channels / Transient receptor potential cation channels	17994	protein-coding gene	gene with protein product		605692			NA	11161216, 11385574, 16382100	Standard	NM_017672	XM_005254486	NA	Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.814C>A	15.37:g.50929637G>T	ENSP00000320239:p.Gln272Lys	NA	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696509	0.48202	.	.	ENSG00000092439	ENST00000313478	T	0.61158	0.13	5.36	5.36	0.76844	.	0.199755	0.43416	D	0.000577	T	0.36663	0.0975	N	0.16656	0.425	0.28451	N	0.916321	B	0.22080	0.064	B	0.16289	0.015	T	0.14755	-1.0461	10	0.12103	T	0.63	-1.1516	10.7969	0.46466	0.1448:0.0:0.8552:0.0	.	272	Q96QT4	TRPM7_HUMAN	K	272	ENSP00000320239:Q272K	ENSP00000320239:Q272K	Q	-	1	0	TRPM7	48716929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.528000	0.60580	2.805000	0.96524	0.650000	0.86243	CAG	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418604.1		-	ENST00000313478.7	Missense_Mutation	SNP	15 : 50929637 - 50929637 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	497	9
TUBA3E	112714	broad.mit.edu	37	2	130949696	130949696	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:130949696C>T	ENST00000312988.7	-	5	1161	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	354					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GTAGTTAATGCCCACCTGCCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	38	37			NA	NA	2		NA											NA				130949696		2202	4300	6502	SO:0001583	missense			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086	112714	112714		Tubulins	20765	protein-coding gene	gene with protein product					NA		Standard	NM_207312	NM_207312	NA	Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1061G>A	2.37:g.130949696C>T	ENSP00000318197:p.Gly354Asp	NA		37	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	14.23	2.473840	0.43942	.	.	ENSG00000152086	ENST00000312988	D	0.84873	-1.91	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.49916	U	0.000137	D	0.94212	0.8142	H	0.99535	4.615	0.53688	D	0.999973	P	0.39216	0.664	P	0.51550	0.673	D	0.95347	0.8443	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	354	Q6PEY2	TBA3E_HUMAN	D	354	ENSP00000318197:G354D	ENSP00000318197:G354D	G	-	2	0	TUBA3E	130666166	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.399000	0.66314	1.668000	0.50843	0.455000	0.32223	GGC	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254519.1		-	ENST00000312988.7	Missense_Mutation	SNP	2 : 130949696 - 130949696 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	415	5
UBE4A	9354	broad.mit.edu	37	11	118250189	118250189	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:118250189C>A	ENST00000252108.3	+	11	1731	c.1600C>A	c.(1600-1602)Caa>Aaa	p.Q534K	UBE4A_ENST00000545354.1_Missense_Mutation_p.Q6K|UBE4A_ENST00000431736.2_Missense_Mutation_p.Q541K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	534					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAAAATCAACCAAAATCTGCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	89	88			NA	NA	11		NA											NA				118250189		2200	4296	6496	SO:0001583	missense			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19				9354	9354		U-box domain containing	12499	protein-coding gene	gene with protein product		603753	ubiquitination factor E4A (homologous to yeast UFD2), ubiquitination factor E4A (UFD2 homolog, yeast)		NA	10089879	Standard	NM_004788	NM_004788	NA	Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000252108.3:c.1600C>A	11.37:g.118250189C>A	ENSP00000252108:p.Gln534Lys	NA	B0YJB6|Q2M1H0|Q6P5T4|Q7Z639	37	CCDS55790.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571993	0.86542	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.42513	0.97;0.97;0.97	5.53	5.53	0.82687	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.71036	2.16	0.80722	D	1	P;P	0.42941	0.681;0.794	B;B	0.43950	0.437;0.31	T	0.44221	-0.9342	10	0.23891	T	0.37	-9.2888	19.4627	0.94924	0.0:1.0:0.0:0.0	.	534;541	Q14139;Q14139-2	UBE4A_HUMAN;.	K	534;541;6	ENSP00000252108:Q534K;ENSP00000387362:Q541K;ENSP00000438918:Q6K	ENSP00000252108:Q534K	Q	+	1	0	UBE4A	117755399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.588000	0.87417	0.655000	0.94253	CAA	UBE4A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398142.1		+	ENST00000252108.3	Missense_Mutation	SNP	11 : 118250189 - 118250189 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	488	10
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G	rs150485330		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	NA					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CATGGCTCGCACAGGGTGGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	prostate(1)|lung(1)|kidney(1)											61	53	56			NA	NA	2		NA											NA				234526363		2203	4300	6503	SO:0001583	missense			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	54658	54658	2.4.1.17	UDP glucuronosyltransferases	12530	other	complex locus constituent		191740	UDP glycosyltransferase 1 family, polypeptide A1	UGT1, GNT1	NA	9295054, 9535849	Standard		NM_000463	NA	Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala	NA		37	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130994.1		+	ENST00000373450.4	Missense_Mutation	SNP	2 : 234526363 - 234526363 G PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	378	5
UGT2B10	7365	broad.mit.edu	37	4	69683833	69683833	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:69683833T>C	ENST00000265403.7	+	2	832	c.805T>C	c.(805-807)Ttc>Ctc	p.F269L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	269					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCTCATCCATTCTTACCAAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(133;755 1763 25578 26334 46021)							NA				0													161	168	166			NA	NA	4		NA											NA				69683833		2203	4298	6501	SO:0001583	missense			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181	7365	7365		UDP glucuronosyltransferases	12544	protein-coding gene	gene with protein product		600070	UDP glycosyltransferase 2 family, polypeptide B10		NA	8333863	Standard	NM_001075	NM_001075	NA	Approved		uc003hee.3	P36537		ENST00000265403.7:c.805T>C	4.37:g.69683833T>C	ENSP00000265403:p.Phe269Leu	NA	A8K9M3|Q14CR8	37		.	.	.	.	.	.	.	.	.	.	t	0.001	-2.962311	0.00049	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.54675	0.56;0.56	2.66	-5.02	0.02982	.	0.305292	0.30277	N	0.009989	T	0.13884	0.0336	N	0.02169	-0.655	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.24905	-1.0147	10	0.02654	T	1	.	3.7802	0.08677	0.2656:0.2148:0.0:0.5196	.	185;269	B4DPP1;P36537	.;UDB10_HUMAN	L	269;185	ENSP00000265403:F269L;ENSP00000413420:F185L	ENSP00000265403:F269L	F	+	1	0	UGT2B10	69718422	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-1.970000	0.01003	-2.800000	0.00114	TTC	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000365169.1		+	ENST00000265403.7	Missense_Mutation	SNP	4 : 69683833 - 69683833 C PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1122	7
VCPIP1	80124	broad.mit.edu	37	8	67577681	67577681	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:67577681C>A	ENST00000310421.4	-	1	1771	c.1513G>T	c.(1513-1515)Gac>Tac	p.D505Y		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	505					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATTTTTGTCAGTCCTCAGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(179;265 2915 6144 43644)							NA				0													164	172	169			NA	NA	8		NA											NA				67577681		2203	4300	6503	SO:0001583	missense			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073	80124	80124		OTU domain containing	30897	protein-coding gene	gene with protein product		611745			NA	11347906, 12509440	Standard		NM_025054	NA	Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1513G>T	8.37:g.67577681C>A	ENSP00000309031:p.Asp505Tyr	NA	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058413	0.55325	.	.	ENSG00000175073	ENST00000310421	T	0.34275	1.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.57665	-0.7772	10	0.62326	D	0.03	-10.4364	18.9562	0.92659	0.0:1.0:0.0:0.0	.	505	Q96JH7	VCIP1_HUMAN	Y	505	ENSP00000309031:D505Y	ENSP00000309031:D505Y	D	-	1	0	VCPIP1	67740235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.459000	0.83118	0.655000	0.94253	GAC	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379227.1		-	ENST00000310421.4	Missense_Mutation	SNP	8 : 67577681 - 67577681 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	976	15
VCPIP1	80124	broad.mit.edu	37	8	67578760	67578760	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:67578760C>A	ENST00000310421.4	-	1	692	c.434G>T	c.(433-435)cGg>cTg	p.R145L		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	145					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGCTTGGCCCGGCCTGTCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(179;265 2915 6144 43644)							NA				0													106	97	100			NA	NA	8		NA											NA				67578760		2203	4300	6503	SO:0001583	missense			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073	80124	80124		OTU domain containing	30897	protein-coding gene	gene with protein product		611745			NA	11347906, 12509440	Standard		NM_025054	NA	Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.434G>T	8.37:g.67578760C>A	ENSP00000309031:p.Arg145Leu	NA	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599893	0.46318	.	.	ENSG00000175073	ENST00000310421	T	0.33654	1.4	6.17	6.17	0.99709	.	0.250144	0.40554	N	0.001077	T	0.19406	0.0466	N	0.08118	0	0.35845	D	0.826367	B	0.23891	0.093	B	0.21151	0.033	T	0.13899	-1.0492	10	0.87932	D	0	-9.9394	8.1392	0.31073	0.0:0.8201:0.0:0.1799	.	145	Q96JH7	VCIP1_HUMAN	L	145	ENSP00000309031:R145L	ENSP00000309031:R145L	R	-	2	0	VCPIP1	67741314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.008000	0.57103	2.941000	0.99782	0.655000	0.94253	CGG	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379227.1		-	ENST00000310421.4	Missense_Mutation	SNP	8 : 67578760 - 67578760 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	572	8
WDR78	79819	broad.mit.edu	37	1	67337143	67337143	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:67337143C>A	ENST00000371026.3	-	6	905	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	WDR78_ENST00000371023.3_Missense_Mutation_p.D284Y|WDR78_ENST00000431318.1_Missense_Mutation_p.D30Y|WDR78_ENST00000371022.3_Missense_Mutation_p.D284Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	284										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACATATAGGTCATTGCCTAAT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	157	158			NA	NA	1		NA											NA				67337143		2202	4297	6499	SO:0001583	missense			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763	79819	79819		WD repeat domain containing	26252	protein-coding gene	gene with protein product					NA	21953912	Standard	NM_024763	NM_207014	NA	Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.850G>T	1.37:g.67337143C>A	ENSP00000360065:p.Asp284Tyr	NA	A8K9W5|B5MDT3|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	37	CCDS635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.507082|2.507082	0.44558|0.44558	.|.	.|.	ENSG00000152763|ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022|ENST00000469450	T;T;T;T;T|.	0.79554|.	-0.23;-1.28;-0.66;1.57;0.19|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.047040|.	0.85682|.	D|.	0.000000|.	T|.	0.79417|.	0.4442|.	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.994;0.994|.	T|.	0.79349|.	-0.1840|.	10|.	0.87932|.	D|.	0|.	-28.0743|-28.0743	18.9441|18.9441	0.92615|0.92615	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	30;284;284;284|.	Q5VTH9-3;Q5TAD8;A0AVI9;Q5VTH9|.	.;.;.;WDR78_HUMAN|.	Y|L	284;30;50;284;284|17	ENSP00000360065:D284Y;ENSP00000393182:D30Y;ENSP00000433682:D50Y;ENSP00000360062:D284Y;ENSP00000360061:D284Y|.	ENSP00000360061:D284Y|.	D|X	-|-	1|2	0|2	WDR78|WDR78	67109731|67109731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.063000|0.063000	0.16089|0.16089	4.342000|4.342000	0.59341|0.59341	2.763000|2.763000	0.94921|0.94921	0.650000|0.650000	0.86243|0.86243	GAC|TGA	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025404.1		-	ENST00000371026.3	Missense_Mutation	SNP	1 : 67337143 - 67337143 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1043	93
ZBP1	81030	broad.mit.edu	37	20	56189968	56189968	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56189968G>T	ENST00000371173.3	-	4	654	c.477C>A	c.(475-477)tcC>tcA	p.S159S	ZBP1_ENST00000340462.4_Silent_p.S136S|ZBP1_ENST00000541799.1_Silent_p.S159S|ZBP1_ENST00000343535.4_Silent_p.S159S|ZBP1_ENST00000395822.3_Silent_p.S84S	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	159						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCCATGCTTTGGACTGCTCAT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	152	166			NA	NA	20		NA											NA				56189968		2203	4300	6503	SO:0001819	synonymous_variant			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256	81030	81030			16176	protein-coding gene	gene with protein product	DNA-dependent activator of IRFs	606750	chromosome 20 open reading frame 183	C20orf183	NA	11842111	Standard	NM_030776	NM_030776	NA	Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.477C>A	20.37:g.56189968G>T		NA	Q5JY39|Q9BYW4	37	CCDS13461.1																																																																																			ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079849.1		-	ENST00000371173.3	Silent	SNP	20 : 56189968 - 56189968 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	732	10
ZC2HC1A	51101	broad.mit.edu	37	8	79590841	79590841	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:79590841G>T	ENST00000263849.4	+	3	239	c.137G>T	c.(136-138)cGg>cTg	p.R46L	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	46											NA						ACTAAAAAACGGAAGACTTTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	133	130			NA	NA	8		NA											NA				79590841		2203	4300	6503	SO:0001583	missense				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427	51101	51101		Zinc fingers, C2HC-type containing	24277	protein-coding gene	gene with protein product			chromosome 8 open reading frame 70, family with sequence similarity 164, member A	C8orf70, FAM164A	NA	10810093	Standard	NM_016010	NM_016010	NA	Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.137G>T	8.37:g.79590841G>T	ENSP00000263849:p.Arg46Leu	NA	Q9Y372	37	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329823	0.95733	.	.	ENSG00000104427	ENST00000263849	T	0.60040	0.22	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.83372	0.5240	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86618	0.1877	9	.	.	.	-10.7436	19.8459	0.96707	0.0:0.0:1.0:0.0	.	46	Q96GY0	F164A_HUMAN	L	46	ENSP00000263849:R46L	.	R	+	2	0	FAM164A	79753396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.144000	0.94629	2.788000	0.95919	0.585000	0.79938	CGG	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379423.2		+	ENST00000263849.4	Missense_Mutation	SNP	8 : 79590841 - 79590841 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	1019	13
ZC3H15	55854	broad.mit.edu	37	2	187370558	187370558	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:187370558G>T	ENST00000337859.6	+	8	1183	c.956G>T	c.(955-957)gGt>gTt	p.G319V	ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	319						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAGGGAACAGGTGGTGATGAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	99	101			NA	NA	2		NA											NA				187370558		2021	4174	6195	SO:0001583	missense				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548	55854	55854		Zinc fingers, CCCH-type domain containing	29528	protein-coding gene	gene with protein product	likely ortholog of mouse immediate early response, erythropoietin 4				NA	10880228	Standard	NM_018471	NM_018471	NA	Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.956G>T	2.37:g.187370558G>T	ENSP00000338788:p.Gly319Val	NA	D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	37	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032400	0.35893	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.29917	1.55	5.87	5.87	0.94306	.	0.478557	0.25823	N	0.028075	T	0.21022	0.0506	N	0.22421	0.69	0.50632	D	0.999884	B	0.33583	0.418	B	0.32393	0.145	T	0.04635	-1.0937	10	0.22706	T	0.39	-16.981	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	319	Q8WU90	ZC3HF_HUMAN	V	319;114;319	ENSP00000338788:G319V	ENSP00000338788:G319V	G	+	2	0	ZC3H15	187078803	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.103000	0.64578	2.941000	0.99782	0.655000	0.94253	GGT	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334547.2		+	ENST00000337859.6	Missense_Mutation	SNP	2 : 187370558 - 187370558 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	219	15
ZFP82	284406	broad.mit.edu	37	19	36883858	36883858	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:36883858G>A	ENST00000392161.3	-	5	1626	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R462C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTTTTGGCGCAATCTAAAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	100	101			NA	NA	19		NA											NA				36883858		2203	4300	6503	SO:0001583	missense			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007	284406	284406		Zinc fingers, C2H2-type, -	28682	protein-coding gene	gene with protein product			zinc finger protein 545, zinc finger protein 82 homolog (mouse), zinc finger protein 82	ZNF545	NA	11853319	Standard	NM_133466	NM_133466	NA	Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1384C>T	19.37:g.36883858G>A	ENSP00000431265:p.Arg462Cys	NA	Q8NC63|Q8TF53	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517462	0.27123	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.08634	3.07;3.07	4.2	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38326	N	0.001727	T	0.11623	0.0283	M	0.68952	2.095	0.09310	N	1	D	0.63880	0.993	P	0.47626	0.552	T	0.13872	-1.0493	10	0.42905	T	0.14	.	5.1118	0.14813	0.1064:0.0:0.6852:0.2084	.	462	Q8N141	ZFP82_HUMAN	C	462	ENSP00000431265:R462C;ENSP00000446080:R462C	ENSP00000431265:R462C	R	-	1	0	ZFP82	41575698	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	-0.160000	0.10041	1.081000	0.41110	0.591000	0.81541	CGC	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109552.2		-	ENST00000392161.3	Missense_Mutation	SNP	19 : 36883858 - 36883858 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	683	6
ZNF287	57336	broad.mit.edu	37	17	16456304	16456304	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:16456304C>A	ENST00000395824.1	-	6	1769	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	ZNF287_ENST00000395825.3_Silent_p.L384L			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	377					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTGGTGTTTCAGGAGGGATG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	148	151			NA	NA	17		NA											NA				16456304		2203	4300	6503	SO:0001819	synonymous_variant			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040	57336	57336		Zinc fingers, C2H2-type, -, -, -	13502	protein-coding gene	gene with protein product					NA		Standard		NM_020653	NA	Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1152G>T	17.37:g.16456304C>A		NA	Q6IAG1	37	CCDS11179.2																																																																																			ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130504.1		-	ENST00000395824.1	Silent	SNP	17 : 16456304 - 16456304 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	726	10
ZNF385B	151126	broad.mit.edu	37	2	180311341	180311341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:180311341G>T	ENST00000410066.1	-	7	1430	c.827C>A	c.(826-828)tCa>tAa	p.S276*	ZNF385B_ENST00000336917.5_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000409343.1_Nonsense_Mutation_p.S200*|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Nonsense_Mutation_p.S174*	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	276						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTCTTCTTCTGATTCAACAAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(155;204 2491 32774 51842)							NA				0													108	110	109			NA	NA	2		NA											NA				180311341		2203	4300	6503	SO:0001587	stop_gained			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331	151126	151126			26332	protein-coding gene	gene with protein product		612344	zinc finger protein 533	ZNF533	NA	12477932	Standard	NM_152520	NM_152520	NA	Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.827C>A	2.37:g.180311341G>T	ENSP00000386845:p.Ser276*	NA	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	37	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	37	6.259971	0.97421	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	0.808	20.1338	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	276;174;200;174;174	.	ENSP00000338225:S174X	S	-	2	0	ZNF385B	180019586	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.624000	0.98398	2.770000	0.95276	0.655000	0.94253	TCA	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335972.1		-	ENST00000410066.1	Nonsense_Mutation	SNP	2 : 180311341 - 180311341 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	523	11
ZNF441	126068	broad.mit.edu	37	19	11892184	11892184	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:11892184C>A	ENST00000357901.4	+	4	1647	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	ZNF441_ENST00000454339.2_Silent_p.P448P	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATTCTCCCAGTTCATTTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	76	76			NA	NA	19		NA											NA				11892184		2203	4299	6502	SO:0001819	synonymous_variant			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044	126068	126068		Zinc fingers, C2H2-type, -	20875	protein-coding gene	gene with protein product					NA		Standard	NM_152355	NM_152355	NA	Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1545C>A	19.37:g.11892184C>A		NA		37	CCDS12266.2																																																																																			ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335273.3		+	ENST00000357901.4	Silent	SNP	19 : 11892184 - 11892184 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	574	9
ZNF462	58499	broad.mit.edu	37	9	109688806	109688806	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:109688806C>A	ENST00000277225.5	+	3	2902	c.2613C>A	c.(2611-2613)ttC>ttA	p.F871L	ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	871					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACATTAAATTCAGCTTTAGGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	151	157			NA	NA	9		NA											NA				109688806		2203	4300	6503	SO:0001583	missense			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143	58499	58499		Zinc fingers, C2H2-type	21684	protein-coding gene	gene with protein product					NA		Standard	NM_021224	NM_021224	NA	Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2613C>A	9.37:g.109688806C>A	ENSP00000277225:p.Phe871Leu	NA	Q5T0T4|Q8N408	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443804	0.63067	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.11385	2.78;3.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	N	0.08118	0	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.74674	0.984;0.956	T	0.33445	-0.9868	9	.	.	.	.	13.2624	0.60113	0.0:0.9279:0.0:0.072	.	871;871	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	871	ENSP00000277225:F871L;ENSP00000414570:F871L	.	F	+	3	2	ZNF462	108728627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.499000	0.35671	2.731000	0.93534	0.650000	0.86243	TTC	ZNF462-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053532.2		+	ENST00000277225.5	Missense_Mutation	SNP	9 : 109688806 - 109688806 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	845	19
ZNF497	162968	broad.mit.edu	37	19	58867557	58867557	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:58867557C>T	ENST00000311044.3	-	3	1633	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R482H	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GAGGTTGCAACGGTGGCTGAA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	18	18			NA	NA	19		NA											NA				58867557		2185	4263	6448	SO:0001583	missense			AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586	162968	162968		Zinc fingers, C2H2-type	23714	protein-coding gene	gene with protein product					NA		Standard	NM_198458	NM_198458	NA	Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1445G>A	19.37:g.58867557C>T	ENSP00000311183:p.Arg482His	NA	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	37	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405179	0.42613	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.36157	1.27;1.27	1.01	-0.157	0.13387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	L	0.38531	1.155	0.09310	N	1	D	0.65815	0.995	P	0.52031	0.688	T	0.13361	-1.0512	9	0.36615	T	0.2	.	2.4784	0.04581	0.0:0.4377:0.3307:0.2316	.	482	Q6ZNH5	ZN497_HUMAN	H	482	ENSP00000311183:R482H;ENSP00000402815:R482H	ENSP00000311183:R482H	R	-	2	0	ZNF497	63559369	0.000000	0.05858	0.268000	0.24571	0.241000	0.25554	-1.396000	0.02513	-0.011000	0.14247	0.195000	0.17529	CGT	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466942.2		-	ENST00000311044.3	Missense_Mutation	SNP	19 : 58867557 - 58867557 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	154	29
ZNF502	91392	broad.mit.edu	37	3	44762976	44762976	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:44762976C>A	ENST00000296091.4	+	4	923	c.667C>A	c.(667-669)Cga>Aga	p.R223R	ZNF502_ENST00000436624.2_Silent_p.R223R|ZNF502_ENST00000449836.1_Silent_p.R223R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATTTCGATGTCGATCATTTCT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	159	157			NA	NA	3		NA											NA				44762976		2203	4300	6503	SO:0001819	synonymous_variant			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653	91392	91392		Zinc fingers, C2H2-type	23718	protein-coding gene	gene with protein product					NA		Standard	NM_033210	NM_033210	NA	Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.667C>A	3.37:g.44762976C>A		NA		37	CCDS2719.1																																																																																			ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256744.4		+	ENST00000296091.4	Silent	SNP	3 : 44762976 - 44762976 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	938	17
ZNF557	79230	broad.mit.edu	37	19	7082034	7082034	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:7082034C>A	ENST00000414706.1	+	7	870	c.397C>A	c.(397-399)Cga>Aga	p.R133R	ZNF557_ENST00000439035.2_Silent_p.R126R|ZNF557_ENST00000252840.6_Silent_p.R133R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	81	82			NA	NA	19		NA											NA				7082034		1864	4136	6000	SO:0001819	synonymous_variant			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544	79230	79230		Zinc fingers, C2H2-type, -	28632	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024341	NM_024341	NA	Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000414706.1:c.397C>A	19.37:g.7082034C>A		NA	Q6PEJ3|Q9BTZ1	37	CCDS42485.1																																																																																			ZNF557-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458501.1		+	ENST00000414706.1	Silent	SNP	19 : 7082034 - 7082034 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	487	10
ZNF616	90317	broad.mit.edu	37	19	52618196	52618196	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52618196C>A	ENST00000600228.1	-	4	2482	c.2221G>T	c.(2221-2223)Ggc>Tgc	p.G741C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTTTTTTGCCAGAATGAATT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	122	121			NA	NA	19		NA											NA				52618196		2203	4300	6503	SO:0001583	missense			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611	90317	90317		Zinc fingers, C2H2-type, -	28062	protein-coding gene	gene with protein product					NA		Standard	XM_030892	NM_178523	NA	Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2221G>T	19.37:g.52618196C>A	ENSP00000471000:p.Gly741Cys	NA	B3KRV1|Q0P658|Q658V7	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345951	0.41599	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	2.04	0.26737	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76644	0.4016	M	0.93241	3.395	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63950	-0.6521	8	0.72032	D	0.01	.	9.6957	0.40156	0.0:1.0:0.0:0.0	.	741	Q08AN1	ZN616_HUMAN	C	741	.	ENSP00000328722:G741C	G	-	1	0	ZNF616	57310008	0.000000	0.05858	0.008000	0.14137	0.172000	0.22775	-0.321000	0.08018	1.116000	0.41820	0.484000	0.47621	GGC	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462451.1		-	ENST00000600228.1	Missense_Mutation	SNP	19 : 52618196 - 52618196 A PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	706	8
ZNF665	79788	broad.mit.edu	37	19	53669363	53669363	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:53669363C>T	ENST00000600412.1	-	2	300	c.185G>A	c.(184-186)cGt>cAt	p.R62H	ZNF665_ENST00000396424.3_Missense_Mutation_p.R127H			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CCTTCTATCACGTTGAGCTCT	0.393		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.7764	EXOME	NA	NA	5e-04	SNP								NA				0													117	123	121			NA	NA	19		NA											NA				53669363		2088	4240	6328	SO:0001583	missense				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497	79788	79788		Zinc fingers, C2H2-type, -	25885	protein-coding gene	gene with protein product					NA		Standard	NM_024733	NM_024733	NA	Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.185G>A	19.37:g.53669363C>T	ENSP00000469154:p.Arg62His	NA	A8K5T8	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.005	-2.190842	0.00302	.	.	ENSG00000197497	ENST00000396424	T	0.08370	3.1	1.9	-3.79	0.04320	.	.	.	.	.	T	0.00998	0.0033	N	0.00040	-2.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40440	-0.9563	9	0.02654	T	1	.	6.2359	0.20762	0.0:0.5693:0.1785:0.2522	.	127	Q9H7R5-2	.	H	127	ENSP00000379702:R127H	ENSP00000379702:R127H	R	-	2	0	ZNF665	58361175	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.134000	0.03228	-1.158000	0.02811	-0.382000	0.06688	CGT	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000464179.1		-	ENST00000600412.1	Missense_Mutation	SNP	19 : 53669363 - 53669363 T PAAD-TCGA-YB-A89D-Tumor-SM-5KWXR	934	8
