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
AC004381.6	0	broad.mit.edu	37	16	20856445	20856445	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:20856445G>A	ENST00000261377.6	+	18	2215	c.2006G>A	c.(2005-2007)gGc>gAc	p.G669D	AC004381.6_ENST00000564274.1_Missense_Mutation_p.G669D|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.G638D	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2				NA											NA						AAGCTGAAAGGCAGGCATGCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	72	74			NA	NA	16		NA											NA				20856445		2201	4300	6501	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000261377.6:c.2006G>A	16.37:g.20856445G>A	ENSP00000261377:p.Gly669Asp	NA		37	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724681	0.68959	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.34072	1.38;1.78	5.53	4.56	0.56223	RNA recognition motif domain (2);	0.418429	0.26474	N	0.024169	T	0.52805	0.1757	L	0.55990	1.75	0.35869	D	0.828072	D;D	0.71674	0.998;0.997	D;D	0.68621	0.959;0.91	T	0.64188	-0.6466	10	0.62326	D	0.03	-13.38	12.8304	0.57742	0.0:0.0:0.8362:0.1638	.	638;669	Q96IC2-2;Q96IC2	.;REXON_HUMAN	D	638;669	ENSP00000261378:G638D;ENSP00000261377:G669D	ENSP00000261377:G669D	G	+	2	0	AC004381.6	20763946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.000000	0.63940	1.284000	0.44531	0.561000	0.74099	GGC	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254418.2		+	ENST00000261377.6	Missense_Mutation	SNP	16 : 20856445 - 20856445 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	221	88
ACSS1	84532	broad.mit.edu	37	20	24993472	24993472	+	Silent	SNP	C	C	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr20:24993472C>A	ENST00000323482.4	-	11	1762	c.1683G>T	c.(1681-1683)ggG>ggT	p.G561G	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000537502.1_Silent_p.G478G|ACSS1_ENST00000542618.1_Silent_p.G440G	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	561					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCTCTGCGGTCCCCAGCCGGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	111	116			NA	NA	20		NA											NA				24993472		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	84532	84532	6.2.1.1	Acyl-CoA synthetase family	16091	protein-coding gene	gene with protein product		614355	acetyl-Coenzyme A synthetase 2 (AMP forming)-like	ACAS2L	NA		Standard	NM_032501	NM_032501	NA	Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1683G>T	20.37:g.24993472C>A		NA	D3DW48|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	37	CCDS13167.1																																																																																			ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078386.2		-	ENST00000323482.4	Silent	SNP	20 : 24993472 - 24993472 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	407	185
C11orf83	0	broad.mit.edu	37	11	62439431	62439431	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr11:62439431C>T	ENST00000531323.1	+	3	670	c.127C>T	c.(127-129)Cca>Tca	p.P43S	C11orf83_ENST00000377953.3_Missense_Mutation_p.P43S			Q6UW78	CK083_HUMAN		43						extracellular region				cervix(1)|lung(1)|prostate(1)	3						TCAGGAGATGCCACTGCAGGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	SER/PRO	0,4294		0,0,2147	22	29	26		127	5.1	1	11		26	1,8507		0,1,4253	no	missense	C11orf83	NM_001085372.2	74	0,1,6400	TT,TC,CC	NA	0.0118,0.0,0.0078	possibly-damaging	43/94	62439431	1,12801	2147	4254	6401	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000531323.1:c.127C>T	11.37:g.62439431C>T	ENSP00000432692:p.Pro43Ser	NA	Q5FVD5	37	CCDS41658.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556223	0.65425	0.0	1.18E-4	ENSG00000204922	ENST00000531323;ENST00000377953	.	.	.	5.08	5.08	0.68730	.	0.084007	0.45361	D	0.000377	T	0.74397	0.3711	.	.	.	0.34743	D	0.730986	D	0.89917	1.0	D	0.73708	0.981	T	0.82096	-0.0626	8	0.72032	D	0.01	-14.1074	14.1832	0.65588	0.0:1.0:0.0:0.0	.	43	Q6UW78	CK083_HUMAN	S	43	.	ENSP00000367189:P43S	P	+	1	0	C11orf83	62196007	0.989000	0.36119	0.993000	0.49108	0.124000	0.20399	2.131000	0.42074	2.798000	0.96311	0.655000	0.94253	CCA	C11orf83-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394992.2		+	ENST00000531323.1	Missense_Mutation	SNP	11 : 62439431 - 62439431 T PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	129	4
CACNB2	783	broad.mit.edu	37	10	18690942	18690942	+	Silent	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:18690942G>A	ENST00000396576.2	+	2	639	c.138G>A	c.(136-138)cgG>cgA	p.R46R	CACNB2_ENST00000377315.4_Silent_p.R53R|CACNB2_ENST00000282343.8_Silent_p.R73R|CACNB2_ENST00000377331.2_Silent_p.R73R|CACNB2_ENST00000377329.4_Silent_p.R47R|CACNB2_ENST00000352115.6_Silent_p.R101R|CACNB2_ENST00000377328.1_Silent_p.R101R|CACNB2_ENST00000377319.3_Silent_p.R46R|CACNB2_ENST00000324631.7_Silent_p.R101R	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	101					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGCGGAGCGGCAGGCCCAGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	61	65			NA	NA	10		NA											NA				18690942		2203	4300	6503	SO:0001819	synonymous_variant			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995	783	783		Calcium channel subunits	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2	NA	9254841, 8494331	Standard	NM_000724	NM_201596	NA	Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000396576.2:c.138G>A	10.37:g.18690942G>A		NA	A6PVM5|A6PVM8|O00304|Q5VVG9|Q5VVH0|Q5VWV6|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	37	CCDS7128.1																																																																																			CACNB2-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047074.2		+	ENST00000396576.2	Silent	SNP	10 : 18690942 - 18690942 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	203	5
CHRNB1	1140	broad.mit.edu	37	17	7348716	7348716	+	Silent	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:7348716A>G	ENST00000306071.2	+	2	253	c.186A>G	c.(184-186)caA>caG	p.Q62Q	RP11-104H15.10_ENST00000575331.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	62					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				TCCTGGCGCAACTCATCAGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	16	16			NA	NA	17		NA											NA				7348716		2200	4294	6494	SO:0001819	synonymous_variant			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175	1140	1140		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1961	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, beta 1 (muscle)	100710	cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)	CHRNB	NA		Standard		NM_000747	NA	Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.186A>G	17.37:g.7348716A>G		NA	Q96FB8	37	CCDS11106.1																																																																																			CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226942.3		+	ENST00000306071.2	Silent	SNP	17 : 7348716 - 7348716 G PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	86	35
DMXL1	1657	broad.mit.edu	37	5	118513060	118513060	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:118513060A>G	ENST00000311085.8	+	27	6847	c.6767A>G	c.(6766-6768)cAg>cGg	p.Q2256R	DMXL1_ENST00000539542.1_Missense_Mutation_p.Q2256R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2256										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGTTCATTTCAGACGAATCAG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	47	48			NA	NA	5		NA											NA				118513060		2201	4299	6500	SO:0001583	missense			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869	1657	1657		WD repeat domain containing	2937	protein-coding gene	gene with protein product		605671			NA	10708522	Standard	NM_005509	NM_005509	NA	Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6767A>G	5.37:g.118513060A>G	ENSP00000309690:p.Gln2256Arg	NA		37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917013	0.33815	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10573	2.86;2.86	5.96	5.96	0.96718	.	0.090364	0.85682	D	0.000000	T	0.11580	0.0282	L	0.58101	1.795	0.47621	D	0.999475	P;B	0.45126	0.851;0.394	B;B	0.33454	0.164;0.079	T	0.02301	-1.1180	10	0.62326	D	0.03	-6.2321	13.4635	0.61241	0.87:0.13:0.0:0.0	.	2256;2256	F5H269;Q9Y485	.;DMXL1_HUMAN	R	2256	ENSP00000309690:Q2256R;ENSP00000439479:Q2256R	ENSP00000309690:Q2256R	Q	+	2	0	DMXL1	118540959	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.694000	0.68272	2.285000	0.76669	0.533000	0.62120	CAG	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250862.1		+	ENST00000311085.8	Missense_Mutation	SNP	5 : 118513060 - 118513060 G PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	197	6
EFCAB13	124989	broad.mit.edu	37	17	45517840	45517840	+	Silent	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr17:45517840C>T	ENST00000331493.2	+	25	3093	c.2682C>T	c.(2680-2682)tcC>tcT	p.S894S		NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13	NA											NA						CTAAATTATCCGATATATTGA	0.294		NA												2	9e-04	NA	0.0028	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9304	EXOME	NA	NA	4e-04	SNP								NA				0													47	49	49			NA	NA	17		NA											NA				45517840		2203	4291	6494	SO:0001819	synonymous_variant			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852	124989	124989		EF-hand domain containing	26864	protein-coding gene	gene with protein product			chromosome 17 open reading frame 57	C17orf57	NA		Standard	NM_152347	NM_152347	NA	Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2682C>T	17.37:g.45517840C>T		NA		37	CCDS11512.1																																																																																			EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380147.4		+	ENST00000331493.2	Silent	SNP	17 : 45517840 - 45517840 T PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	501	18
GLI3	2737	broad.mit.edu	37	7	42005281	42005281	+	Silent	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr7:42005281G>A	ENST00000395925.3	-	15	3474	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1130					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCCGGGCGCGTCAAAGTCAC	0.642		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	63	60			NA	NA	7		NA											NA				42005281		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571	2737	2737		Zinc fingers, C2H2-type	4319	protein-coding gene	gene with protein product	zinc finger protein GLI3, oncogene GLI3, DNA-binding protein	165240	Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3	GCPS, PHS	NA	2118997	Standard	NM_000168	NM_000168	NA	Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3390C>T	7.37:g.42005281G>A		NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1																																																																																			GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Silent	SNP	7 : 42005281 - 42005281 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	504	178
IDO2	169355	broad.mit.edu	37	8	39836612	39836612	+	Silent	SNP	G	G	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr8:39836612G>T	ENST00000389060.4	+	3	222	c.222G>T	c.(220-222)ctG>ctT	p.L74L	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Silent_p.L87L			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	74					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GCCAGTTCCTGAAGGGTCACC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	30	29			NA	NA	8		NA											NA				39836612		1991	4165	6156	SO:0001819	synonymous_variant			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676	169355	169355			27269	protein-coding gene	gene with protein product		612129	indoleamine-pyrrole 2,3 dioxygenase-like 1	INDOL1	NA		Standard	NM_194294	NM_194294	NA	Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.222G>T	8.37:g.39836612G>T		NA	A4UD41	37																																																																																				IDO2-004	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000372742.1		+	ENST00000389060.4	Silent	SNP	8 : 39836612 - 39836612 T PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	24	4
ITPK1	3705	broad.mit.edu	37	14	93412799	93412799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:93412799C>A	ENST00000267615.6	-	10	951	c.778G>T	c.(778-780)Gag>Tag	p.E260*	ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_Nonsense_Mutation_p.E141*|ITPK1_ENST00000556603.2_Nonsense_Mutation_p.E260*|ITPK1_ENST00000354313.3_Nonsense_Mutation_p.E260*			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	260	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGGATGACCTCGTCGCTCGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	75	78			NA	NA	14		NA											NA				93412799		2203	4300	6503	SO:0001587	stop_gained			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	3705	3705	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	inositol 1,3,4-triphosphate 5/6 kinase		NA	8662638, 11042108	Standard	NM_014216	NM_014216	NA	Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.778G>T	14.37:g.93412799C>A	ENSP00000267615:p.Glu260*	NA	Q9BTL6|Q9H2E7	37	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682923	0.68157	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	.	.	.	5.25	5.25	0.73442	.	0.147171	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-9.1782	18.8572	0.92257	0.0:1.0:0.0:0.0	.	.	.	.	X	260;290;260;141;260;260	.	ENSP00000267615:E260X	E	-	1	0	ITPK1	92482552	0.998000	0.40836	0.742000	0.31022	0.059000	0.15707	5.940000	0.70187	2.456000	0.83038	0.561000	0.74099	GAG	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412421.2		-	ENST00000267615.6	Nonsense_Mutation	SNP	14 : 93412799 - 93412799 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	261	125
KMT2D	8085	broad.mit.edu	37	12	49445917	49445917	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr12:49445917delC	ENST00000301067.7	-	10	1548	c.1549delG	c.(1549-1551)gagfs	p.E517fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						AAGGGCGACTCCTCCAGTGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	52	50			NA	NA	12		NA											NA				49445917		2049	4194	6243	SO:0001589	frameshift_variant			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	8085	8085		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	7133	protein-coding gene	gene with protein product		602113	trinucleotide repeat containing 21, myeloid/lymphoid or mixed-lineage leukemia 2	TNRC21, MLL2	NA	9247308	Standard		NM_003482	NA	Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1549delG	12.37:g.49445917delC	ENSP00000301067:p.Glu517fs	NA		37	CCDS44873.1																																																																																			KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390183.2		-	ENST00000301067.7	Frame_Shift_Del	DEL	12 : 49445917 - 49445917 - PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	266	117
L3HYPDH	112849	broad.mit.edu	37	14	59950906	59950906	+	Silent	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:59950906A>G	ENST00000247194.4	-	1	242	c.129T>C	c.(127-129)tcT>tcC	p.S43S	RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)	NA											NA						GGGTGGGCCCAGACACCTCCG	0.697		NA									OREG0022712	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													17	15	16			NA	NA	14		NA											NA				59950906		2091	4140	6231	SO:0001819	synonymous_variant			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	112849	112849	4.2.1.77		20488	protein-coding gene	gene with protein product	trans-L-3-hydroxyproline dehydratase	614811	chromosome 14 open reading frame 149	C14orf149	NA	22528483	Standard	NM_144581	NM_144581	NA	Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.129T>C	14.37:g.59950906A>G		1042		37	CCDS9739.1																																																																																			L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072254.5		-	ENST00000247194.4	Silent	SNP	14 : 59950906 - 59950906 G PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	90	29
LAMA2	3908	broad.mit.edu	37	6	129813459	129813459	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr6:129813459G>A	ENST00000421865.2	+	58	8124		c.e58-1		LAMA2_ENST00000498257.1_Splice_Site	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	NA					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATTCTATTAGCCCCATGGAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	78	77			NA	NA	6		NA											NA				129813459		2203	4300	6503	SO:0001630	splice_region_variant			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	3908	3908		Laminins	6482	protein-coding gene	gene with protein product	merosin, congenital muscular dystrophy	156225		LAMM	NA	2185464, 8294519	Standard		NM_000426	NA	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8076-1G>A	6.37:g.129813459G>A		NA	Q14736|Q5VUM2|Q93022	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186430	0.57909	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3713	0.94488	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129855152	1.000000	0.71417	0.989000	0.46669	0.668000	0.39293	6.417000	0.73337	2.650000	0.89964	0.563000	0.77884	.	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042180.1	Intron	+	ENST00000421865.2	Splice_Site	SNP	6 : 129813459 - 129813459 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	665	12
NRP1	8829	broad.mit.edu	37	10	33515104	33515104	+	Silent	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr10:33515104G>A	ENST00000265371.4	-	8	1620	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	NRP1_ENST00000374821.5_Silent_p.N365N|NRP1_ENST00000374823.5_Silent_p.N365N|NRP1_ENST00000374822.4_Silent_p.N365N|NRP1_ENST00000432372.2_Silent_p.N365N|NRP1_ENST00000395995.1_Silent_p.N365N|NRP1_ENST00000374875.1_Silent_p.N184N|NRP1_ENST00000374867.2_Silent_p.N365N|NRP1_ENST00000374816.3_Silent_p.N365N			O14786	NRP1_HUMAN	neuropilin 1	365	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGTCTTCCCCGTTGGAGCTAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(104;886 1489 44640 45944 51153)							NA				0													162	145	151			NA	NA	10		NA											NA				33515104		2203	4300	6503	SO:0001819	synonymous_variant			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250	8829	8829		CD molecules	8004	protein-coding gene	gene with protein product		602069			NA	9529250, 9331348	Standard		NM_003873	NA	Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1095C>T	10.37:g.33515104G>A		NA	B0LPG9|O60461|Q5T7F2|Q5T7F3|Q86T59|Q96IH5	37	CCDS7177.1																																																																																			NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051203.2		-	ENST00000265371.4	Silent	SNP	10 : 33515104 - 33515104 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	617	294
NUP214	8021	broad.mit.edu	37	9	134072641	134072641	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr9:134072641G>A	ENST00000359428.5	+	29	3904	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	NUP214_ENST00000483497.2_Missense_Mutation_p.A80T|NUP214_ENST00000451030.1_Missense_Mutation_p.A1255T|NUP214_ENST00000411637.2_Missense_Mutation_p.A1244T|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1254	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGCCGGACGCATTCTCATC	0.483		NA	T	DEK, SET, ABL1	AML, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													82	79	80			NA	NA	9		NA											NA				134072641		2203	4300	6503	SO:0001583	missense			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883	8021	8021			8064	protein-coding gene	gene with protein product	nuclear pore complex protein Nup214, CAN protein, putative oncogene	114350	nucleoporin 214kD (CAIN)		NA	8108440, 2370860	Standard	NM_005085	NM_005085	NA	Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3760G>A	9.37:g.134072641G>A	ENSP00000352400:p.Ala1254Thr	NA	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	3.864	-0.029241	0.07589	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.46819	1.6;1.6;1.6;0.98;0.86	5.68	-7.71	0.01254	.	0.850834	0.10024	N	0.725668	T	0.18635	0.0447	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.003;0.001;0.003;0.001	B;B;B;B;B	0.12156	0.006;0.002;0.001;0.001;0.007	T	0.17653	-1.0362	10	0.21540	T	0.41	-0.0613	5.706	0.17909	0.5759:0.0771:0.2202:0.1269	.	80;683;848;1244;1254	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	T	1254;1244;1255;1233;848;683;80;31;31	ENSP00000352400:A1254T;ENSP00000396576:A1244T;ENSP00000405014:A1255T;ENSP00000436793:A80T;ENSP00000435364:A31T	ENSP00000352400:A1254T	A	+	1	0	NUP214	133062462	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-1.051000	0.03507	-1.632000	0.01541	-1.012000	0.02466	GCA	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054694.2		+	ENST00000359428.5	Missense_Mutation	SNP	9 : 134072641 - 134072641 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	420	5
PCDHA11	56138	broad.mit.edu	37	5	140248828	140248828	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:140248828G>A	ENST00000398640.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1			protocadherin alpha 11	NA										breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	69	66			NA	NA	5		NA											NA				140248828		2203	4300	6503	SO:0001583	missense			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158	56138	56138		Cadherins / Protocadherins : Clustered	8665	other	complex locus constituent	KIAA0345-like 3, ortholog of mouse CNR7	606317		CNRS7	NA	10380929, 10662547	Standard	NM_018902	NM_018902	NA	Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.140G>A	5.37:g.140248828G>A	ENSP00000381636:p.Arg47His	NA		37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985516	0.74589	.	.	ENSG00000249158	ENST00000398640	T	0.27256	1.68	5.59	5.59	0.84812	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.37210	0.0995	L	0.55213	1.73	0.30173	N	0.801147	P;D	0.54207	0.609;0.965	B;P	0.49853	0.185;0.624	T	0.30297	-0.9983	9	0.59425	D	0.04	.	16.584	0.84723	0.0:0.13:0.87:0.0	.	47;47	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	47	ENSP00000381636:R47H	ENSP00000381636:R47H	R	+	2	0	PCDHA11	140229012	0.016000	0.18221	1.000000	0.80357	0.993000	0.82548	2.196000	0.42686	2.628000	0.89032	0.655000	0.94253	CGC	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372885.2		+	ENST00000398640.2	Missense_Mutation	SNP	5 : 140248828 - 140248828 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	571	7
PCDHA6	56142	broad.mit.edu	37	5	140208566	140208566	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr5:140208566G>A	ENST00000529310.1	+	1	1004	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R297Q|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			protocadherin alpha 6	NA										NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCATAGATCGAAATACGGGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	5		NA											NA				140208566		2203	4300	6503	SO:0001583	missense			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842	56142	56142		Cadherins / Protocadherins : Clustered	8672	other	complex locus constituent	KIAA0345-like 8	606312		CNRS2	NA	10380929, 10662547	Standard	NM_018909	NM_018909	NA	Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.890G>A	5.37:g.140208566G>A	ENSP00000433378:p.Arg297Gln	NA		37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	1.936	-0.444875	0.04604	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.51325	0.71;0.71	3.7	-1.17	0.09648	Cadherin (4);Cadherin-like (1);	1.944250	0.03754	U	0.256999	T	0.30479	0.0766	N	0.12746	0.255	0.09310	N	1	B;B;B	0.13145	0.001;0.007;0.007	B;B;B	0.15870	0.0;0.014;0.004	T	0.31081	-0.9956	10	0.51188	T	0.08	.	7.6233	0.28197	0.2589:0.405:0.3362:0.0	.	297;297;297	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	Q	297	ENSP00000433378:R297Q;ENSP00000434113:R297Q	ENSP00000434113:R297Q	R	+	2	0	PCDHA6	140188750	0.000000	0.05858	0.001000	0.08648	0.183000	0.23260	-0.330000	0.07925	-0.018000	0.14079	-0.802000	0.03209	CGA	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372829.3		+	ENST00000529310.1	Missense_Mutation	SNP	5 : 140208566 - 140208566 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	848	357
PRDM15	63977	broad.mit.edu	37	21	43299470	43299470	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr21:43299470C>T	ENST00000422911.1	-	1	112	c.11G>A	c.(10-12)cGc>cAc	p.R4H	PRDM15_ENST00000269844.3_Missense_Mutation_p.R4H|PRDM15_ENST00000398548.1_Missense_Mutation_p.R4H|PRDM15_ENST00000538201.1_5'UTR	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						cggggggcggcggcggggcAT	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	5	4			NA	NA	21		NA											NA				43299470		1746	3685	5431	SO:0001583	missense			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956	63977	63977		Zinc fingers, C2H2-type	13999	protein-coding gene	gene with protein product			chromosome 21 open reading frame 83	ZNF298, C21orf83	NA	12036297, 12036298	Standard	NM_022115	NM_022115	NA	Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000422911.1:c.11G>A	21.37:g.43299470C>T	ENSP00000408592:p.Arg4His	NA	Q8N0X3|Q8NEX0|Q9NQV3	37		.	.	.	.	.	.	.	.	.	.	c	4.273	0.049715	0.08243	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000269844	T;T;T	0.10960	2.82;2.83;2.82	3.01	-6.02	0.02192	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.20196	N	0.999928	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45454	-0.9260	9	0.21014	T	0.42	.	8.0005	0.30293	0.0:0.5084:0.3199:0.1718	.	4;4;4	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	H	4	ENSP00000408592:R4H;ENSP00000381556:R4H;ENSP00000269844:R4H	ENSP00000269844:R4H	R	-	2	0	PRDM15	42172539	0.000000	0.05858	0.335000	0.25508	0.962000	0.63368	-3.397000	0.00485	-1.134000	0.02899	-0.537000	0.04273	CGC	PRDM15-010	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000195240.4		-	ENST00000422911.1	Missense_Mutation	SNP	21 : 43299470 - 43299470 T PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	80	31
SLC6A16	28968	broad.mit.edu	37	19	49797186	49797186	+	Silent	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:49797186G>A	ENST00000454748.3	-	9	1717	c.1516C>T	c.(1516-1518)Ctg>Ttg	p.L506L	SLC6A16_ENST00000335875.4_Silent_p.L506L			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	506						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CCCATGGCCAGCAACATCAGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	165	164			NA	NA	19		NA											NA				49797186		2026	4189	6215	SO:0001819	synonymous_variant			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127	28968	28968		Solute carriers	13622	protein-coding gene	gene with protein product	NTT5 protein	607972	solute carrier family 6 (neurotransmitter transporter), member 16		NA	10471414, 11112352	Standard	NM_014037	XM_005258820	NA	Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000454748.3:c.1516C>T	19.37:g.49797186G>A		NA	Q9Y5I9	37																																																																																				SLC6A16-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000465504.1		-	ENST00000454748.3	Silent	SNP	19 : 49797186 - 49797186 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	590	6
SLMAP	7871	broad.mit.edu	37	3	57898112	57898112	+	Silent	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:57898112A>G	ENST00000295951.3	+	18	2819	c.1602A>G	c.(1600-1602)caA>caG	p.Q534Q	SLMAP_ENST00000295952.3_Silent_p.Q534Q|SLMAP_ENST00000442599.2_Silent_p.Q19Q|SLMAP_ENST00000494088.1_Silent_p.Q44Q|SLMAP_ENST00000416870.1_Silent_p.Q44Q|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000495364.1_Silent_p.Q85Q|SLMAP_ENST00000449503.2_Silent_p.Q513Q|SLMAP_ENST00000428312.1_Silent_p.Q551Q			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	551					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TTGCAGCCCAATTGCAGAGGT	0.408		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	3		NA											NA				57898112		2203	4300	6503	SO:0001819	synonymous_variant			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681	7871	7871			16643	protein-coding gene	gene with protein product	Sarcolemmal-associated protein	602701			NA	9405447, 11042152	Standard	NM_007159	NM_007159	NA	Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000295951.3:c.1602A>G	3.37:g.57898112A>G		NA	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	37	CCDS33774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.715|3.715	-0.058842|-0.058842	0.07317|0.07317	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000416658;ENST00000438794|ENST00000417128	.|.	.|.	.|.	5.09|5.09	-6.98|-6.98	0.01611|0.01611	.|.	.|.	.|.	.|.	.|.	T|T	0.65460|0.65460	0.2693|0.2693	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.69266|0.69266	-0.5190|-0.5190	4|4	.|.	.|.	.|.	-10.0023|-10.0023	17.6214|17.6214	0.88083|0.88083	0.3198:0.0:0.6802:0.0|0.3198:0.0:0.6802:0.0	.|.	.|.	.|.	.|.	V|S	159;89|135	.|.	.|.	I|N	+|+	1|2	0|0	SLMAP|SLMAP	57873152|57873152	0.299000|0.299000	0.24426|0.24426	0.803000|0.803000	0.32268|0.32268	0.563000|0.563000	0.35712|0.35712	-0.154000|-0.154000	0.10130|0.10130	-1.299000|-1.299000	0.02344|0.02344	-1.194000|-1.194000	0.01681|0.01681	ATT|AAT	SLMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258230.1		+	ENST00000295951.3	Silent	SNP	3 : 57898112 - 57898112 G PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	254	14
SPTB	6710	broad.mit.edu	37	14	65253368	65253368	+	Silent	SNP	A	A	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr14:65253368A>G	ENST00000556626.1	-	16	3457	c.3315T>C	c.(3313-3315)ggT>ggC	p.G1105G	SPTB_ENST00000389722.3_Silent_p.G1105G|SPTB_ENST00000389720.3_Silent_p.G1105G|SPTB_ENST00000389721.5_Silent_p.G1105G|SPTB_ENST00000542895.1_Silent_p.G1105G			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1105					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATCCTTGATACCTGCATGCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	69	71			NA	NA	14		NA											NA				65253368		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182	6710	6710		Pleckstrin homology (PH) domain containing	11274	protein-coding gene	gene with protein product	spherocytosis, clinical type I	182870			NA	2209094	Standard		NM_001024858	NA	Approved		uc001xhr.3	P11277		ENST00000556626.1:c.3315T>C	14.37:g.65253368A>G		NA	Q15510|Q15519	37	CCDS32099.1																																																																																			SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414076.1		-	ENST00000556626.1	Silent	SNP	14 : 65253368 - 65253368 G PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	192	80
STXBP5L	9515	broad.mit.edu	37	3	121126282	121126282	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr3:121126282T>C	ENST00000273666.6	+	24	3123	c.2852T>C	c.(2851-2853)aTa>aCa	p.I951T	STXBP5L_ENST00000471454.1_Missense_Mutation_p.I927T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I925T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I951T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I927T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	951					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAGTATACAATAATCTGCTCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	122	123			NA	NA	3		NA											NA				121126282		1892	4118	6010	SO:0001583	missense			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087	9515	9515		WD repeat domain containing	30757	protein-coding gene	gene with protein product		609381			NA	10231032, 14767561	Standard		NM_014980	NA	Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2852T>C	3.37:g.121126282T>C	ENSP00000273666:p.Ile951Thr	NA	Q4G1B4|Q6PIC3	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175675	0.57692	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.55052	0.54;0.54;1.96;1.96;1.96;0.54	5.33	5.33	0.75918	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.116455	0.64402	D	0.000018	T	0.47395	0.1443	L	0.39898	1.24	0.48901	D	0.999726	P;P	0.37781	0.608;0.608	B;B	0.37601	0.171;0.254	T	0.53725	-0.8398	10	0.87932	D	0	-16.4474	15.5893	0.76512	0.0:0.0:0.0:1.0	.	927;951	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	T	951;927;927;925;951;894	ENSP00000273666:I951T;ENSP00000420019:I927T;ENSP00000419627:I927T;ENSP00000420287:I925T;ENSP00000420666:I951T;ENSP00000420167:I894T	ENSP00000273666:I951T	I	+	2	0	STXBP5L	122608972	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.149000	0.67028	0.528000	0.53228	ATA	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355256.3		+	ENST00000273666.6	Missense_Mutation	SNP	3 : 121126282 - 121126282 C PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	515	244
THBS3	7059	broad.mit.edu	37	1	155170284	155170284	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:155170284T>C	ENST00000368378.3	-	14	1686	c.1666A>G	c.(1666-1668)Aat>Gat	p.N556D	THBS3_ENST00000457183.2_Missense_Mutation_p.N436D|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.N85D|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	556					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTCCCCATTGCCATCTGTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													256	225	236			NA	NA	1		NA											NA				155170284		2203	4300	6503	SO:0001583	missense			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231	7059	7059			11787	protein-coding gene	gene with protein product		188062			NA	1601886	Standard	NM_007112	NM_007112	NA	Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1666A>G	1.37:g.155170284T>C	ENSP00000357362:p.Asn556Asp	NA	B1AVR8|Q8WV34	37	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	7.447	0.641950	0.14451	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000541990	D;D;D	0.95482	-3.72;-3.72;-3.72	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.18871	0.023;0.006;0.009;0.006	T	0.73097	-0.4090	10	0.02654	T	1	-25.899	13.2277	0.59924	0.0:0.0:0.0:1.0	.	436;556;556;556	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	D	556;436;85	ENSP00000357362:N556D;ENSP00000392207:N436D;ENSP00000437353:N85D	ENSP00000357362:N556D	N	-	1	0	THBS3	153436908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.681000	0.46926	2.281000	0.76405	0.533000	0.62120	AAT	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086856.1		-	ENST00000368378.3	Missense_Mutation	SNP	1 : 155170284 - 155170284 C PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	600	277
TLR5	7100	broad.mit.edu	37	1	223284937	223284937	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr1:223284937G>C	ENST00000540964.1	-	4	1898	c.1437C>G	c.(1435-1437)ttC>ttG	p.F479L	TLR5_ENST00000342210.6_Missense_Mutation_p.F479L			O60602	TLR5_HUMAN	toll-like receptor 5	479			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTTCTCCAAGGAAAAGCTGTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	75	74			NA	NA	1		NA											NA				223284937		2203	4300	6503	SO:0001583	missense				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554	7100	7100			11851	protein-coding gene	gene with protein product	Toll/interleukin-1 receptor-like protein 3	603031	systemic lupus erythematosus susceptibility 1	SLEB1	NA	9435236, 16027372	Standard	NM_003268	NM_003268	NA	Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1437C>G	1.37:g.223284937G>C	ENSP00000440643:p.Phe479Leu	NA	B1AZ05|B3Y633|D3DTB8|O15456|Q32MI3	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.488957	0.26686	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.23552	1.9;1.9;1.9	5.49	3.4	0.38934	.	0.154028	0.53938	D	0.000046	T	0.25606	0.0623	M	0.68317	2.08	0.28839	N	0.896695	B	0.06786	0.001	B	0.06405	0.002	T	0.14671	-1.0464	10	0.44086	T	0.13	.	8.8258	0.35054	0.3007:0.0:0.6993:0.0	.	479	O60602	TLR5_HUMAN	L	479	ENSP00000440643:F479L;ENSP00000355846:F479L;ENSP00000340089:F479L	ENSP00000340089:F479L	F	-	3	2	TLR5	221351560	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	2.463000	0.45058	1.320000	0.45209	0.650000	0.86243	TTC	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000540964.1	Missense_Mutation	SNP	1 : 223284937 - 223284937 C PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	535	247
TMC4	147798	broad.mit.edu	37	19	54664079	54664079	+	Silent	SNP	G	G	A	rs77135688	byFrequency	TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr19:54664079G>A	ENST00000376591.4	-	15	2234	c.2103C>T	c.(2101-2103)cgC>cgT	p.R701R	TMC4_ENST00000416963.1_Silent_p.R283R|TMC4_ENST00000301187.4_Silent_p.R695R	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	701						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGCCACAGCGCGCCGTGCCA	0.612		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	LOWCOV,EXOME	NA	NA	0.0049	SNP								NA				0								G	,	1,4405	2.1+/-5.4	0,1,2202	79	89	85		2103,2085	-10.7	0.1	19	dbSNP_132	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TMC4	NM_001145303.1,NM_144686.2	,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,	701/713,695/707	54664079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608	147798	147798			22998	protein-coding gene	gene with protein product					NA	12812529, 12906855	Standard		XM_005277069	NA	Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2103C>T	19.37:g.54664079G>A		NA	Q7Z5M3|Q8N5E4|Q8TBS7	37	CCDS46174.1																																																																																			TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156164.2		-	ENST00000376591.4	Silent	SNP	19 : 54664079 - 54664079 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	377	164
TUBGCP4	27229	broad.mit.edu	37	15	43696705	43696705	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr15:43696705T>G	ENST00000564079.1	+	17	2183	c.1943T>G	c.(1942-1944)cTa>cGa	p.L648R	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.L649R	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	649					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTGTTACGACTAGATTATAAC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	90	93			NA	NA	15		NA											NA				43696705		1869	4100	5969	SO:0001583	missense			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822	27229	27229			16691	protein-coding gene	gene with protein product		609610			NA	10562286	Standard	NM_014444	NM_001286414	NA	Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000564079.1:c.1943T>G	15.37:g.43696705T>G	ENSP00000456648:p.Leu648Arg	NA	B3KNK6|Q969X3|Q9NVF0	37	CCDS42030.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804879	0.90623	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.70710	-0.4797	9	0.87932	D	0	-8.7423	15.4929	0.75624	0.0:0.0:0.0:1.0	.	649;648	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	R	648	.	ENSP00000260383:L648R	L	+	2	0	TUBGCP4	41483997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.803000	0.85983	2.308000	0.77769	0.533000	0.62120	CTA	TUBGCP4-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432971.1		+	ENST00000564079.1	Missense_Mutation	SNP	15 : 43696705 - 43696705 G PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	355	32
UGT2B11	10720	broad.mit.edu	37	4	70074189	70074189	+	Silent	SNP	C	C	T			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr4:70074189C>T	ENST00000446444.1	-	3	890	c.882G>A	c.(880-882)gaG>gaA	p.E294E	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	294					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTGTACAAACTCCTCCATTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	123	122			NA	NA	4		NA											NA				70074189		2203	4293	6496	SO:0001819	synonymous_variant			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759	10720	10720		UDP glucuronosyltransferases	12545	protein-coding gene	gene with protein product		603064	UDP glycosyltransferase 2 family, polypeptide B11		NA	9675083	Standard	NM_001073	NM_001073	NA	Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.882G>A	4.37:g.70074189C>T		NA	Q3KNV9	37	CCDS3527.1																																																																																			UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251551.2		-	ENST00000446444.1	Silent	SNP	4 : 70074189 - 70074189 T PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	1228	11
UMOD	7369	broad.mit.edu	37	16	20362076	20362076	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chr16:20362076G>A	ENST00000396138.4	-	2	197	c.131C>T	c.(130-132)gCg>gTg	p.A44V	UMOD_ENST00000424589.1_5'UTR|UMOD_ENST00000302509.4_5'UTR|UMOD_ENST00000396134.2_5'UTR|UMOD_ENST00000570689.1_5'UTR|UMOD_ENST00000396142.2_5'UTR			P07911	UROM_HUMAN	uromodulin	0	EGF-like 1.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCTCTTCCCGCTACTTCAGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									,	0,4406		0,0,2203	136	113	121		,	1.4	0	16		121	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,utr-5	UMOD	NM_001008389.1,NM_003361.2	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	,	20362076	1,13005	2203	4300	6503	SO:0001583	missense			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344	7369	7369			12559	protein-coding gene	gene with protein product	Tamm-Horsfall glycoprotein, uromucoid	191845	uromodulin (uromucoid, Tamm-Horsfall glycoprotein)		NA	8382593	Standard		NM_003361	NA	Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000396138.4:c.131C>T	16.37:g.20362076G>A	ENSP00000379442:p.Ala44Val	NA	B3KP48|B3KRN9|Q540J6|Q6ZS84|Q8IYG0	37																																																																																				UMOD-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000254333.2		-	ENST00000396138.4	Missense_Mutation	SNP	16 : 20362076 - 20362076 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	163	4
ZMYM3	9203	broad.mit.edu	37	X	70463797	70463797	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IR-01A-11D-A38G-08	TCGA-3A-A9IR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2085545-e65e-43e7-a585-547fae15cc10	04752fa2-c71b-40f2-990a-fe04b8f4978d	g.chrX:70463797G>A	ENST00000373998.1	-	21	3975	c.3278C>T	c.(3277-3279)gCc>gTc	p.A1093V	ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1105V|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100V|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1105					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCTGAGCAGGCGAGAATATC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	112	129			NA	NA	X		NA											NA				70463797		2203	4300	6503	SO:0001583	missense			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130	9203	9203		Zinc fingers, MYM type	13054	protein-coding gene	gene with protein product		300061	zinc finger protein 261	ZNF261	NA	10486218	Standard	NM_201599	NM_201599	NA	Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000373998.1:c.3278C>T	X.37:g.70463797G>A	ENSP00000363110:p.Ala1093Val	NA	D3DVV3|O15089	37	CCDS55444.1	.	.	.	.	.	.	.	.	.	.	g	19.13	3.766881	0.69878	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.46451	1.46;0.87;1.46;1.47;1.47	5.04	4.15	0.48705	.	0.000000	0.64402	D	0.000002	T	0.38825	0.1055	N	0.22421	0.69	0.35936	D	0.832909	P;P	0.41313	0.745;0.629	P;B	0.47645	0.553;0.351	T	0.51268	-0.8727	10	0.49607	T	0.09	-12.5039	13.8071	0.63238	0.0:0.0:0.8458:0.1542	.	1093;1105	Q14202-2;Q14202	.;ZMYM3_HUMAN	V	1105;1093;1105;1100;1107	ENSP00000322845:A1105V;ENSP00000363110:A1093V;ENSP00000343909:A1105V;ENSP00000363096:A1100V;ENSP00000363100:A1107V	ENSP00000322845:A1105V	A	-	2	0	ZMYM3	70380522	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.215000	0.65241	1.066000	0.40716	0.529000	0.55759	GCC	ZMYM3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057153.1		-	ENST00000373998.1	Missense_Mutation	SNP	X : 70463797 - 70463797 A PAAD-TCGA-3A-A9IR-Tumor-SM-5W7V2	112	98
