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
APBB1	322	broad.mit.edu	37	11	6432332	6432332	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr11:6432332C>T	ENST00000609360.1	-	2	345	c.246G>A	c.(244-246)acG>acA	p.T82T	APBB1_ENST00000311051.3_Silent_p.T82T|APBB1_ENST00000389906.2_Silent_p.T82T|APBB1_ENST00000299402.6_Silent_p.T82T	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	NA					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CACGGTGGGCCGTGGCGGCCC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(147;1810 2556 5672 39622)							NA				0													78	93	88			NA	NA	11		NA											NA				6432332		2201	4296	6497	SO:0001819	synonymous_variant			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313	322	322			581	protein-coding gene	gene with protein product		602709		RIR	NA	8955346, 8894693	Standard	NM_001164	NM_001164	NA	Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.246G>A	11.37:g.6432332C>T		NA	A6NH82|A6NL69|D3DQT2|Q96A93	37																																																																																				APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000471831.1		-	ENST00000609360.1	Silent	SNP	11 : 6432332 - 6432332 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	1776	513
AQP10	89872	broad.mit.edu	37	1	154296116	154296116	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:154296116C>T	ENST00000484864.1	+	5	577	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.R181W			Q96PS8	AQP10_HUMAN	aquaporin 10	181					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.R181W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGACAGACGGAACAAGGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											140	143	142			NA	NA	1		NA											NA				154296116		2203	4300	6503	SO:0001583	missense			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595	89872	89872		Ion channels / Aquaporins	16029	protein-coding gene	gene with protein product		606578			NA	11573934	Standard	NM_080429	NM_080429	NA	Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000484864.1:c.541C>T	1.37:g.154296116C>T	ENSP00000420341:p.Arg181Trp	NA	Q5VYD3|Q5VYD4|Q8NG70	37		.	.	.	.	.	.	.	.	.	.	C	15.64	2.894226	0.52121	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85955	-2.05;-2.05	4.9	1.67	0.24075	Aquaporin-like (2);	0.410133	0.24642	N	0.036791	D	0.90542	0.7036	H	0.95043	3.615	0.09310	N	1	D;D	0.67145	0.996;0.994	P;P	0.59889	0.742;0.865	D	0.84976	0.0885	10	0.66056	D	0.02	.	12.93	0.58282	0.5075:0.4925:0.0:0.0	.	181;181	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	W	181	ENSP00000318355:R181W;ENSP00000420341:R181W	ENSP00000318355:R181W	R	+	1	2	AQP10	152562740	0.003000	0.15002	0.109000	0.21407	0.949000	0.60115	0.450000	0.21762	0.639000	0.30564	0.555000	0.69702	CGG	AQP10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000087660.1		+	ENST00000484864.1	Missense_Mutation	SNP	1 : 154296116 - 154296116 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	1546	611
ASIC3	9311	broad.mit.edu	37	7	150746117	150746117	+	Missense_Mutation	SNP	G	G	A	rs150462572		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:150746117G>A	ENST00000357922.4	+	1	739	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	ASIC3_ENST00000349064.5_Missense_Mutation_p.V49M|ASIC3_ENST00000297512.8_Missense_Mutation_p.V49M	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	49					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity				NA						GGCAGCGGCCGTGGTCCTGTC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	55	50	52		145,145,145	2.1	0.9	7	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	21,21,21	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	49/532,49/550,49/544	150746117	1,13005	2203	4300	6503	SO:0001583	missense			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199	9311	9311		Ion channels / Acid-sensing (proton-gated) ion channels	101	protein-coding gene	gene with protein product	testis sodium channel 1	611741	amiloride-sensitive cation channel 3, testis, amiloride-sensitive cation channel 3	ACCN3	NA	9571199, 9744806	Standard	NM_004769	NM_004769	NA	Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000357922.4:c.145G>A	7.37:g.150746117G>A	ENSP00000350600:p.Val49Met	NA	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	37	CCDS5914.1	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121302	0.20877	0.0	1.16E-4	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.65549	-0.16;-0.16;-0.16	4.98	2.06	0.26882	.	.	.	.	.	T	0.53753	0.1816	M	0.66939	2.045	0.30998	N	0.720624	B;P;B	0.49696	0.224;0.927;0.049	B;B;B	0.40864	0.024;0.342;0.036	T	0.56631	-0.7947	9	0.42905	T	0.14	-13.2004	4.0592	0.09831	0.085:0.2987:0.4626:0.1536	.	49;49;49	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	M	49	ENSP00000350600:V49M;ENSP00000344838:V49M;ENSP00000297512:V49M	ENSP00000297512:V49M	V	+	1	0	ACCN3	150377050	0.986000	0.35501	0.856000	0.33681	0.149000	0.21700	2.978000	0.49305	0.203000	0.20529	0.462000	0.41574	GTG	ASIC3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351723.2		+	ENST00000357922.4	Missense_Mutation	SNP	7 : 150746117 - 150746117 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	417	95
ATP10B	23120	broad.mit.edu	37	5	160063232	160063232	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:160063232A>T	ENST00000327245.5	-	11	1931	c.1085T>A	c.(1084-1086)cTt>cAt	p.L362H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	362					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGCCCCCAAGGGCACTGGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	70	70			NA	NA	5		NA											NA				160063232		1907	4128	6035	SO:0001583	missense			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322	23120	23120		ATPases / P-type	13543	protein-coding gene	gene with protein product			ATPase, Class V, type 10B		NA	9872452, 11015572	Standard	NM_025153	NM_025153	NA	Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1085T>A	5.37:g.160063232A>T	ENSP00000313600:p.Leu362His	NA	Q9H725	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236676	0.58886	.	.	ENSG00000118322	ENST00000327245	D	0.88818	-2.43	5.18	5.18	0.71444	ATPase, P-type, ATPase-associated domain (1);	0.072522	0.56097	D	0.000029	D	0.94853	0.8337	M	0.88241	2.94	0.58432	D	0.999998	D;D;D;D	0.76494	0.998;0.967;0.999;0.999	D;P;D;D	0.71870	0.967;0.881;0.967;0.975	D	0.95432	0.8517	9	.	.	.	.	14.5426	0.68005	1.0:0.0:0.0:0.0	.	406;362;334;362	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	H	362	ENSP00000313600:L362H	.	L	-	2	0	ATP10B	159995810	1.000000	0.71417	0.140000	0.22221	0.752000	0.42762	5.287000	0.65645	2.087000	0.62958	0.454000	0.30748	CTT	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374127.1		-	ENST00000327245.5	Missense_Mutation	SNP	5 : 160063232 - 160063232 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	302	38
ATP10B	23120	broad.mit.edu	37	5	160063233	160063233	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:160063233G>T	ENST00000327245.5	-	11	1930	c.1084C>A	c.(1084-1086)Ctt>Att	p.L362I	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	362					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGCCCCCAAGGGCACTGGGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	71	71			NA	NA	5		NA											NA				160063233		1911	4131	6042	SO:0001583	missense			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322	23120	23120		ATPases / P-type	13543	protein-coding gene	gene with protein product			ATPase, Class V, type 10B		NA	9872452, 11015572	Standard	NM_025153	NM_025153	NA	Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1084C>A	5.37:g.160063233G>T	ENSP00000313600:p.Leu362Ile	NA	Q9H725	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756875	0.49362	.	.	ENSG00000118322	ENST00000327245	D	0.88664	-2.41	5.18	4.3	0.51218	ATPase, P-type, ATPase-associated domain (1);	0.072522	0.56097	D	0.000029	D	0.89269	0.6667	L	0.58810	1.83	0.49687	D	0.999815	P;B;P;P	0.46621	0.763;0.09;0.881;0.688	P;B;P;P	0.47827	0.481;0.124;0.484;0.558	D	0.88290	0.2942	9	.	.	.	.	15.2945	0.73894	0.0:0.1402:0.8598:0.0	.	406;362;334;362	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	I	362	ENSP00000313600:L362I	.	L	-	1	0	ATP10B	159995811	1.000000	0.71417	0.148000	0.22405	0.733000	0.41908	3.182000	0.50910	1.289000	0.44618	0.555000	0.69702	CTT	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374127.1		-	ENST00000327245.5	Missense_Mutation	SNP	5 : 160063233 - 160063233 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	295	35
ATP10B	23120	broad.mit.edu	37	5	160063251	160063251	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:160063251T>A	ENST00000327245.5	-	11	1912	c.1066A>T	c.(1066-1068)Agc>Tgc	p.S356C	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	356					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGGAAGCTGCCATTGGCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	79	79			NA	NA	5		NA											NA				160063251		1942	4144	6086	SO:0001583	missense			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322	23120	23120		ATPases / P-type	13543	protein-coding gene	gene with protein product			ATPase, Class V, type 10B		NA	9872452, 11015572	Standard	NM_025153	NM_025153	NA	Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1066A>T	5.37:g.160063251T>A	ENSP00000313600:p.Ser356Cys	NA	Q9H725	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967852	0.53507	.	.	ENSG00000118322	ENST00000327245	T	0.50001	0.76	5.18	-2.04	0.07343	ATPase, P-type, ATPase-associated domain (1);	0.959783	0.08779	N	0.895025	T	0.54711	0.1875	L	0.59967	1.855	0.09310	N	1	D;D;D;D	0.57899	0.973;0.981;0.967;0.978	P;P;P;P	0.61275	0.886;0.818;0.818;0.75	T	0.48490	-0.9031	9	.	.	.	.	5.29	0.15721	0.0:0.2169:0.2542:0.5289	.	400;356;328;356	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	C	356	ENSP00000313600:S356C	.	S	-	1	0	ATP10B	159995829	0.000000	0.05858	0.008000	0.14137	0.485000	0.33311	-0.543000	0.06084	-0.507000	0.06549	0.454000	0.30748	AGC	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374127.1		-	ENST00000327245.5	Missense_Mutation	SNP	5 : 160063251 - 160063251 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	258	12
BACH2	60468	broad.mit.edu	37	6	90660535	90660535	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:90660535G>A	ENST00000257749.4	-	7	1997	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	BACH2_ENST00000343122.3_Silent_p.S430S|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.S430S|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	430						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGAAGATCACGCTCCTCCGGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	36	35			NA	NA	6		NA											NA				90660535		2203	4298	6501	SO:0001819	synonymous_variant			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182	60468	60468		BTB/POZ domain containing, basic leucine zipper proteins	14078	protein-coding gene	gene with protein product		605394			NA	10949928, 12829606	Standard	NM_021813	NM_001170794	NA	Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1290C>T	6.37:g.90660535G>A		NA	E1P518|Q59H70|Q5T793|Q9NTS5	37	CCDS5026.1																																																																																			BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041522.2		-	ENST00000257749.4	Silent	SNP	6 : 90660535 - 90660535 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	383	82
BRD2	6046	broad.mit.edu	37	6	32944179	32944179	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:32944179C>T	ENST00000374825.4	+	6	2464	c.763C>T	c.(763-765)Cac>Tac	p.H255Y	BRD2_ENST00000374831.4_Missense_Mutation_p.H255Y|BRD2_ENST00000395289.2_Missense_Mutation_p.H255Y|BRD2_ENST00000449085.2_Missense_Mutation_p.H208Y|BRD2_ENST00000395287.1_Missense_Mutation_p.H255Y|BRD2_ENST00000443797.2_Missense_Mutation_p.H135Y	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	255					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CAAGTCCTTGCACTCTGCTGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	110	113			NA	NA	6		NA											NA				32944179		1511	2709	4220	SO:0001583	missense			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256	6046	6046			1103	protein-coding gene	gene with protein product		601540	bromodomain-containing 2		NA	1352711, 8781126	Standard		NM_005104	NA	Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.763C>T	6.37:g.32944179C>T	ENSP00000363958:p.His255Tyr	NA	B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q6P3U2|Q969U4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	7.346	0.621976	0.14193	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.07800	3.35;3.35;3.35;3.16;3.35;3.32	5.63	5.63	0.86233	.	0.000000	0.50627	D	0.000111	T	0.09158	0.0226	L	0.55481	1.735	0.58432	D	0.999993	P;P	0.41188	0.741;0.7	P;B	0.45232	0.474;0.082	T	0.01935	-1.1244	10	0.51188	T	0.08	-17.7006	17.5449	0.87858	0.0:1.0:0.0:0.0	.	255;255	A2AAU0;P25440	.;BRD2_HUMAN	Y	255;255;255;135;255;208	ENSP00000363958:H255Y;ENSP00000363964:H255Y;ENSP00000378704:H255Y;ENSP00000413495:H135Y;ENSP00000378702:H255Y;ENSP00000409145:H208Y	ENSP00000363958:H255Y	H	+	1	0	BRD2	33052157	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.175000	0.58263	2.815000	0.96918	0.643000	0.83706	CAC	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076503.2		+	ENST00000374825.4	Missense_Mutation	SNP	6 : 32944179 - 32944179 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	651	171
C9orf66	157983	broad.mit.edu	37	9	215392	215392	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:215392C>T	ENST00000382387.2	-	1	501	c.5G>A	c.(4-6)aGa>aAa	p.R2K	DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	2										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CACGGAGTGTCTCATAAACGG	0.597		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	9		NA											NA				215392		2179	4267	6446	SO:0001583	missense			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784	157983	157983			26436	protein-coding gene	gene with protein product					NA		Standard	NM_152569	NM_152569	NA	Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.5G>A	9.37:g.215392C>T	ENSP00000371824:p.Arg2Lys	NA	Q96NB0	37	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237657	0.22711	.	.	ENSG00000183784	ENST00000382387	T	0.21932	1.98	3.02	2.08	0.27032	.	.	.	.	.	T	0.11537	0.0281	N	0.08118	0	0.19300	N	0.99997	B	0.32573	0.376	B	0.37267	0.245	T	0.24870	-1.0148	9	0.87932	D	0	.	5.389	0.16234	0.0:0.8357:0.0:0.1643	.	2	Q5T8R8	CI066_HUMAN	K	2	ENSP00000371824:R2K	ENSP00000371824:R2K	R	-	2	0	C9orf66	205392	0.021000	0.18746	0.001000	0.08648	0.032000	0.12392	0.775000	0.26689	0.806000	0.34183	0.462000	0.41574	AGA	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055436.1		-	ENST00000382387.2	Missense_Mutation	SNP	9 : 215392 - 215392 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	390	104
CACNA1B	774	broad.mit.edu	37	9	140919489	140919489	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:140919489G>A	ENST00000371372.1	+	20	3296	c.3151G>A	c.(3151-3153)Gtg>Atg	p.V1051M	CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371367.5_Missense_Mutation_p.V35M|CACNA1B_ENST00000545473.1_Missense_Mutation_p.V35M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1052M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1052M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V243M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1051M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1051					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCAGAAGGTGGAGGAACA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	64	61			NA	NA	9		NA											NA				140919489		2178	4268	6446	SO:0001583	missense			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3151G>A	9.37:g.140919489G>A	ENSP00000360423:p.Val1051Met	NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602173	0.66445	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371367;ENST00000545473	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.02	5.02	0.67125	.	10.830000	0.00166	N	0.000000	T	0.56124	0.1964	L	0.42245	1.32	0.36925	D	0.89158	D;D;D	0.55172	0.97;0.97;0.97	P;P;P	0.54889	0.682;0.763;0.682	T	0.35201	-0.9798	10	0.48119	T	0.1	.	13.3267	0.60463	0.0:0.0:0.842:0.158	.	1051;1052;1051	B1AQK4;B1AQK7;B1AQK6	.;.;.	M	1051;1051;243;1051;1052;1052;35;35	ENSP00000360423:V1051M;ENSP00000277551:V1051M;ENSP00000277549:V243M;ENSP00000360414:V1051M;ENSP00000360408:V1052M;ENSP00000360406:V1052M;ENSP00000360418:V35M;ENSP00000441232:V35M	ENSP00000277549:V243M	V	+	1	0	CACNA1B	140039310	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.321000	0.51999	2.327000	0.79052	0.561000	0.74099	GTG	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Missense_Mutation	SNP	9 : 140919489 - 140919489 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	98	20
CACNA1H	8912	broad.mit.edu	37	16	1270897	1270897	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:1270897G>A	ENST00000348261.5	+	35	7213	c.6965G>A	c.(6964-6966)cGg>cAg	p.R2322Q	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2316Q|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2316Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2322					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAGAAGAGGCGGGGGCTGTAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	55	53			NA	NA	16		NA											NA				1270897		1849	4079	5928	SO:0001583	missense			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16				8912	8912		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1395	protein-coding gene	gene with protein product		607904			NA	9670923, 16382099	Standard	NM_001005407	NM_021098	NA	Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6965G>A	16.37:g.1270897G>A	ENSP00000334198:p.Arg2322Gln	NA	B5ME00|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.691971	0.00731	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96396	-4.0;-3.95	3.85	-3.3	0.05003	.	7739.210000	0.00166	N	0.000000	D	0.88618	0.6485	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.12013	0.002;0.001;0.001;0.005;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	D	0.84117	0.0404	10	0.11182	T	0.66	.	9.9107	0.41403	0.7772:0.0:0.2228:0.0	.	1068;1046;1052;2316;2322	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	Q	2322;2316	ENSP00000334198:R2322Q;ENSP00000351401:R2316Q	ENSP00000334198:R2322Q	R	+	2	0	CACNA1H	1210898	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.131000	0.10482	-0.593000	0.05844	-0.998000	0.02512	CGG	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421601.1		+	ENST00000348261.5	Missense_Mutation	SNP	16 : 1270897 - 1270897 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	586	162
CYP3A5	1577	broad.mit.edu	37	7	99258126	99258126	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:99258126T>C	ENST00000222982.4	-	10	1121	c.1022A>G	c.(1021-1023)aAt>aGt	p.N341S	CYP3A5_ENST00000343703.5_Missense_Mutation_p.N331S|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1			cytochrome P450, family 3, subfamily A, polypeptide 5	NA										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					CCTCACCTTATTGGGCAAAAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	100	103			NA	NA	7		NA											NA				99258126		2203	4300	6503	SO:0001583	missense			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258	NA	1577		Cytochrome P450s	2638	protein-coding gene	gene with protein product		605325	cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5		NA		Standard		NR_033808	NA	Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.1022A>G	7.37:g.99258126T>C	ENSP00000222982:p.Asn341Ser	NA		37	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.543326	0.27563	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.67523	-0.27;-0.27	4.51	2.07	0.26955	.	0.240715	0.46442	D	0.000298	T	0.54647	0.1871	L	0.43757	1.38	0.80722	D	1	B;B	0.17038	0.02;0.012	B;B	0.19391	0.015;0.025	T	0.47849	-0.9085	10	0.62326	D	0.03	.	7.1908	0.25824	0.0:0.1948:0.0:0.8052	.	331;341	F5H4S0;P20815	.;CP3A5_HUMAN	S	341;331	ENSP00000222982:N341S;ENSP00000342969:N331S	ENSP00000222982:N341S	N	-	2	0	CYP3A5	99096062	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	3.836000	0.55813	0.133000	0.18654	0.528000	0.53228	AAT	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345469.1		-	ENST00000222982.4	Missense_Mutation	SNP	7 : 99258126 - 99258126 C PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	755	236
DCST1	149095	broad.mit.edu	37	1	155007014	155007014	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:155007014C>T	ENST00000295542.1	+	3	261	c.165C>T	c.(163-165)ggC>ggT	p.G55G	DCST1_ENST00000423025.2_Silent_p.G55G|DCST1_ENST00000392480.1_Silent_p.G55G|DCST1_ENST00000368419.2_Silent_p.G55G	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	55						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGGGGCAGGCGCTGGGGGGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	76	72			NA	NA	1		NA											NA				155007014		2203	4300	6503	SO:0001819	synonymous_variant			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357	149095	149095			26539	protein-coding gene	gene with protein product					NA		Standard	NM_152494	NM_152494	NA	Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.165C>T	1.37:g.155007014C>T		NA	Q5T198|Q6P1W6|Q71S70|Q96M70	37	CCDS1083.1																																																																																			DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099006.1		+	ENST00000295542.1	Silent	SNP	1 : 155007014 - 155007014 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	1182	190
DKK2	27123	broad.mit.edu	37	4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000510463.1_Missense_Mutation_p.R184H|DKK2_ENST00000513208.1_Missense_Mutation_p.R130H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R230H(3)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	large_intestine(2)|prostate(1)											161	147	152			NA	NA	4		NA											NA				107845202		2203	4300	6503	SO:0001583	missense			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011	27123	27123			2892	protein-coding gene	gene with protein product		605415	dickkopf (Xenopus laevis) homolog 2, dickkopf 2 homolog (Xenopus laevis)		NA	10570958	Standard		NM_014421	NA	Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.689G>A	4.37:g.107845202C>T	ENSP00000285311:p.Arg230His	NA	A0AVE9|B2R6S7|Q9UIU3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897895	0.91962	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.57595	0.39;0.52;0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.77051	-0.2731	10	0.59425	D	0.04	-11.8314	19.6876	0.95986	0.0:1.0:0.0:0.0	.	230	Q9UBU2	DKK2_HUMAN	H	230;130;184	ENSP00000285311:R230H;ENSP00000421255:R130H;ENSP00000423797:R184H	ENSP00000285311:R230H	R	-	2	0	DKK2	108064651	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.487000	0.81328	2.657000	0.90304	0.585000	0.79938	CGT	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253959.4		-	ENST00000285311.3	Missense_Mutation	SNP	4 : 107845202 - 107845202 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	808	205
DOCK2	1794	broad.mit.edu	37	5	169509808	169509808	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:169509808C>A	ENST00000520908.1	+	38	4079	c.3915C>A	c.(3913-3915)agC>agA	p.S1305R	DOCK2_ENST00000256935.8_Missense_Mutation_p.S1813R|DOCK2_ENST00000540750.1_Missense_Mutation_p.S874R|DOCK2_ENST00000523351.1_3'UTR			Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1813	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGGCCAGCAAATCGGCTG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	88	90			NA	NA	5		NA											NA				169509808		2203	4300	6503	SO:0001583	missense			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516	1794	1794			2988	protein-coding gene	gene with protein product		603122	dedicator of cyto-kinesis 2		NA		Standard	NM_004946	NM_004946	NA	Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000520908.1:c.3915C>A	5.37:g.169509808C>A	ENSP00000429283:p.Ser1305Arg	NA	Q2M3I0|Q96AK7	37		.	.	.	.	.	.	.	.	.	.	C	13.90	2.374649	0.42105	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09350	3.65;3.27;2.99	4.3	4.3	0.51218	.	0.413850	0.25622	N	0.029413	T	0.07098	0.0180	N	0.14661	0.345	0.32612	N	0.5245	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.06338	-1.0832	10	0.37606	T	0.19	.	12.4783	0.55827	0.0:1.0:0.0:0.0	.	1305;369;1813	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	R	1813;1305;874	ENSP00000256935:S1813R;ENSP00000429283:S1305R;ENSP00000438827:S874R	ENSP00000256935:S1813R	S	+	3	2	DOCK2	169442386	1.000000	0.71417	0.998000	0.56505	0.657000	0.38888	3.201000	0.51059	2.407000	0.81776	0.650000	0.86243	AGC	DOCK2-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371643.1		+	ENST00000520908.1	Missense_Mutation	SNP	5 : 169509808 - 169509808 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	271	24
FYCO1	79443	broad.mit.edu	37	3	46008034	46008034	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:46008034T>C	ENST00000296137.2	-	8	2997	c.2792A>G	c.(2791-2793)cAg>cGg	p.Q931R	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q931R	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	931					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)		CTGGAGCTCCTGGACAGCACA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	56	56			NA	NA	3		NA											NA				46008034		2203	4300	6503	SO:0001583	missense			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.2792A>G	3.37:g.46008034T>C	ENSP00000296137:p.Gln931Arg	NA	Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	0.969	-0.700659	0.03279	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.78481	-1.18;-1.18	5.17	1.53	0.23141	.	0.305477	0.32081	N	0.006616	T	0.67192	0.2867	L	0.50919	1.6	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.10450	0.005;0.002	T	0.53975	-0.8362	10	0.31617	T	0.26	-12.6091	7.6462	0.28321	0.0:0.2406:0.0:0.7594	.	931;931	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	R	931	ENSP00000296137:Q931R;ENSP00000441178:Q931R	ENSP00000296137:Q931R	Q	-	2	0	FYCO1	45983038	0.054000	0.20591	0.941000	0.38009	0.062000	0.15995	0.895000	0.28363	0.307000	0.22880	0.533000	0.62120	CAG	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257320.2		-	ENST00000296137.2	Missense_Mutation	SNP	3 : 46008034 - 46008034 C PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	524	55
GAA	2548	broad.mit.edu	37	17	78086379	78086379	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:78086379C>T	ENST00000302262.3	+	13	1976	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	GAA_ENST00000390015.3_Missense_Mutation_p.A586V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	586					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CACCCCAGGGCGCTGGTGAAG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	17		NA											NA				78086379		2203	4299	6502	SO:0001583	missense				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				2548	2548	3.2.1.20		4065	protein-coding gene	gene with protein product	Pompe disease, glycogen storage disease type II	606800			NA		Standard		NM_000152	NA	Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1757C>T	17.37:g.78086379C>T	ENSP00000305692:p.Ala586Val	NA	Q09GN4|Q14351|Q16302|Q8IWE7	37	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823727	0.71143	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.92348	-3.02;-3.02	4.56	4.56	0.56223	Glycoside hydrolase, superfamily (1);	0.113983	0.64402	D	0.000017	D	0.95746	0.8616	M	0.83692	2.655	0.58432	D	0.999996	D	0.67145	0.996	D	0.64321	0.924	D	0.96539	0.9399	10	0.87932	D	0	-31.9547	16.0715	0.80940	0.0:1.0:0.0:0.0	.	586	P10253	LYAG_HUMAN	V	586	ENSP00000305692:A586V;ENSP00000374665:A586V	ENSP00000305692:A586V	A	+	2	0	GAA	75700974	1.000000	0.71417	0.964000	0.40570	0.013000	0.08279	7.628000	0.83189	2.068000	0.61886	0.561000	0.74099	GCG	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437441.1		+	ENST00000302262.3	Missense_Mutation	SNP	17 : 78086379 - 78086379 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	250	67
GFAP	2670	broad.mit.edu	37	17	42992592	42992592	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:42992592C>T	ENST00000253408.5	-	1	328	c.263G>A	c.(262-264)cGc>cAc	p.R88H	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Missense_Mutation_p.R88H|GFAP_ENST00000586793.1_Missense_Mutation_p.R88H	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	88	Coil 1A.|Rod.		R -> C (in ALEXD; dbSNP:rs61622935).|R -> S (in ALEXD).			cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCCAGGAAGCGAACCTTCTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	68	74			NA	NA	17		NA											NA				42992592		2203	4300	6503	SO:0001583	missense			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16					2670	2670		Intermediate filaments type III	4235	protein-coding gene	gene with protein product	intermediate filament protein	137780			NA	9693047	Standard	NM_002055	NM_002055	NA	Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.263G>A	17.37:g.42992592C>T	ENSP00000253408:p.Arg88His	NA	B2RD44|D3DX59|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843111	0.71488	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360;ENST00000376990	D;D;D	0.91843	-2.92;-2.92;-2.92	4.69	4.69	0.59074	Filament (1);	0.000000	0.85682	D	0.000000	D	0.94958	0.8369	L	0.58810	1.83	0.80722	D	1	D;P	0.89917	1.0;0.797	D;P	0.69824	0.966;0.499	D	0.95295	0.8398	10	0.72032	D	0.01	.	17.7736	0.88500	0.0:1.0:0.0:0.0	.	88;88	E9PAX3;P14136	.;GFAP_HUMAN	H	88;63;88;88	ENSP00000253408:R88H;ENSP00000403962:R88H;ENSP00000366189:R88H	ENSP00000253408:R88H	R	-	2	0	GFAP	40348118	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.609000	0.82925	2.609000	0.88269	0.462000	0.41574	CGC	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448701.1		-	ENST00000253408.5	Missense_Mutation	SNP	17 : 42992592 - 42992592 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	429	97
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2129					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)		GCCTGCGGGCGCACCCTGCGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	25			NA	NA	15		NA											NA				28459392		2195	4292	6487	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.6385C>T	15.37:g.28459392G>A	ENSP00000261609:p.Arg2129Cys	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944883	0.53079	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	4.75	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55866	-0.8073	10	0.72032	D	0.01	.	12.4051	0.55434	0.0:0.0:0.7652:0.2348	.	2129	O95714	HERC2_HUMAN	C	2129	ENSP00000261609:R2129C	ENSP00000261609:R2129C	R	-	1	0	HERC2	26132987	1.000000	0.71417	0.956000	0.39512	0.126000	0.20510	3.130000	0.50508	2.461000	0.83175	0.484000	0.47621	CGC	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28459392 - 28459392 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	347	10
IQCH	64799	broad.mit.edu	37	15	67555549	67555549	+	Silent	SNP	C	C	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:67555549C>G	ENST00000512104.1	+	3	361	c.264C>G	c.(262-264)tcC>tcG	p.S88S	IQCH_ENST00000335894.4_Silent_p.S88S|IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR	NM_022784.2	NP_073621.2	Q86VS3	IQCH_HUMAN	IQ motif containing H	88										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCCAGGCTTCCAAATGGTAAG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	52	52			NA	NA	15		NA											NA				67555549		2201	4293	6494	SO:0001819	synonymous_variant			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599	64799	64799			25721	protein-coding gene	gene with protein product		612523			NA	12477932	Standard	NM_022784	NM_022784	NA	Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000512104.1:c.264C>G	15.37:g.67555549C>G		NA	A8K8W3|C9JPR6|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	37	CCDS10223.2																																																																																			IQCH-003	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372724.1		+	ENST00000512104.1	Silent	SNP	15 : 67555549 - 67555549 G PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	241	76
KIAA0226L	80183	broad.mit.edu	37	13	46946268	46946268	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr13:46946268C>T	ENST00000409879.2	-	4	1125				KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A48T|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000429979.1_Missense_Mutation_p.A115T|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A115T|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A115T			Q9H714	CM018_HUMAN	KIAA0226-like	NA										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGGGGAGAAGCGCTGCCAACG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	83			NA	NA	13		NA											NA				46946268		2203	4300	6503	SO:0001627	intron_variant			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445	80183	80183			20420	protein-coding gene	gene with protein product			chromosome 13 open reading frame 18	C13orf18	NA		Standard	NM_025113	NM_001286766	NA	Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000409879.2:c.65-3318G>A	13.37:g.46946268C>T		NA	A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	37		.	.	.	.	.	.	.	.	.	.	C	11.55	1.672214	0.29693	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000439642	T;T;T;T;T;T;T	0.46451	0.87;0.91;0.87;0.89;0.91;0.87;0.88	4.94	-0.463	0.12164	.	0.910915	0.09290	N	0.822445	T	0.18841	0.0452	N	0.22421	0.69	0.09310	N	1	P;B;B;B;B	0.37914	0.611;0.164;0.102;0.164;0.164	B;B;B;B;B	0.28465	0.09;0.042;0.012;0.026;0.042	T	0.11767	-1.0574	10	0.31617	T	0.26	0.1552	0.5212	0.00612	0.3271:0.2098:0.1129:0.3501	.	115;115;115;48;115	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	T	115;115;115;48;115;115;115	ENSP00000368057:A115T;ENSP00000396935:A115T;ENSP00000368074:A115T;ENSP00000368061:A48T;ENSP00000374558:A115T;ENSP00000368064:A115T;ENSP00000414579:A115T	ENSP00000368057:A115T	A	-	1	0	KIAA0226L	45844269	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.098000	0.11024	-0.348000	0.08286	-0.137000	0.14449	GCT	KIAA0226L-012	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335435.2		-	ENST00000409879.2	Intron	SNP	13 : 46946268 - 46946268 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	258	76
KLK2	3817	broad.mit.edu	37	19	51378013	51378013	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:51378013G>T	ENST00000325321.3	+	2	308	c.83G>T	c.(82-84)gGc>gTc	p.G28V	KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.G28V|AC037199.1_ENST00000594218.1_Missense_Mutation_p.P10T|KLK2_ENST00000597509.1_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	28	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		ATTGTGGGAGGCTGGGAGTGT	0.622		NA	T	ETV4	prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													84	67	73			NA	NA	19		NA											NA				51378013		2203	4300	6503	SO:0001583	missense			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3817	3817	3.4.21.35	Kallikreins	6363	protein-coding gene	gene with protein product		147960	kallikrein 2, prostatic		NA	2468530, 16800724, 16800723	Standard	NM_005551.3	NM_005551	NA	Approved		uc002ptv.3	P20151		ENST00000325321.3:c.83G>T	19.37:g.51378013G>T	ENSP00000313581:p.Gly28Val	NA	B4DUB0|Q15946|Q9UJZ9	37	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280438	0.59758	.	.	ENSG00000167751	ENST00000325321;ENST00000358049	T;T	0.61392	0.11;0.11	2.46	2.46	0.29980	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.35646	N	0.003067	T	0.81163	0.4765	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85452	0.1161	10	0.87932	D	0	.	11.0429	0.47842	0.0:0.0:1.0:0.0	.	28;28	P20151-2;P20151	.;KLK2_HUMAN	V	28	ENSP00000313581:G28V;ENSP00000350748:G28V	ENSP00000313581:G28V	G	+	2	0	KLK2	56069825	0.999000	0.42202	0.104000	0.21259	0.171000	0.22731	3.232000	0.51302	1.306000	0.44926	0.455000	0.32223	GGC	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464438.3		+	ENST00000325321.3	Missense_Mutation	SNP	19 : 51378013 - 51378013 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	387	96
KMT2C	58508	broad.mit.edu	37	7	151853388	151853388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:151853388delG	ENST00000262189.6	-	45	11932	c.11714delC	c.(11713-11715)cctfs	p.P3906fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.P3963fs	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						TGGTGTAGGAGGAAGAGAGGC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	91	90			NA	NA	7		NA											NA				151853388		2203	4300	6503	SO:0001589	frameshift_variant			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11714delC	7.37:g.151853388delG	ENSP00000262189:p.Pro3906fs	NA		37	CCDS5931.1																																																																																			KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Frame_Shift_Del	DEL	7 : 151853388 - 151853388 - PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	603	147
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:25380276T>C	ENST00000311936.3	-	3	373	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61L(73)|p.Q61R(56)|p.Q61P(12)	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)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_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	141	Substitution - Missense(141)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)											109	97	101			NA	NA	12		NA											NA				25380276		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.182A>G	12.37:g.25380276T>C	ENSP00000308495:p.Gln61Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25380276 - 25380276 C PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	179	82
MAGI2	9863	broad.mit.edu	37	7	78636417	78636417	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:78636417C>T	ENST00000354212.4	-	2	660	c.407G>A	c.(406-408)cGc>cAc	p.R136H	MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	136	Guanylate kinase-like.					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)				TGGCACCGTGCGGAGGTAGAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	130	137			NA	NA	7		NA											NA				78636417		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.407G>A	7.37:g.78636417C>T	ENSP00000346151:p.Arg136His	NA	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367062	0.61513	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.41758	0.99;0.99;0.99	5.29	5.29	0.74685	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.53400	0.1794	L	0.31926	0.97	0.80722	D	1	D;D	0.89917	0.958;1.0	P;D	0.91635	0.493;0.999	T	0.42481	-0.9449	9	0.21540	T	0.41	.	17.9199	0.88963	0.0:1.0:0.0:0.0	.	136;136	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	H	136	ENSP00000405766:R136H;ENSP00000346151:R136H;ENSP00000428389:R136H	ENSP00000346151:R136H	R	-	2	0	MAGI2	78474353	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.683000	0.84093	2.470000	0.83445	0.637000	0.83480	CGC	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253197.3		-	ENST00000354212.4	Missense_Mutation	SNP	7 : 78636417 - 78636417 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	674	201
NOL8	55035	broad.mit.edu	37	9	95077968	95077968	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:95077968C>T	ENST00000535387.1	-	6	938	c.939G>A	c.(937-939)gcG>gcA	p.A313A	NOL8_ENST00000442668.2_Silent_p.A313A|NOL8_ENST00000542053.1_Silent_p.A245A|NOL8_ENST00000545558.1_Silent_p.A313A|NOL8_ENST00000358855.4_Silent_p.A245A			Q76FK4	NOL8_HUMAN	nucleolar protein 8	313					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTTCCTCTTTCGCAATCATCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,3715		0,1,1857	56	50	52		939	1.9	0.8	9		52	0,8188		0,0,4094	no	coding-synonymous	NOL8	NM_017948.5		0,1,5951	TT,TC,CC	NA	0.0,0.0269,0.0084		313/1168	95077968	1,11903	1858	4094	5952	SO:0001819	synonymous_variant			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000	55035	55035		RNA binding motif (RRM) containing	23387	protein-coding gene	gene with protein product		611534	chromosome 9 open reading frame 34	C9orf34	NA	12477932	Standard	NM_017948	NM_017948	NA	Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.939G>A	9.37:g.95077968C>T		NA	Q5TCC7|Q5TCC8|Q5TCD3|Q5TCD5|Q5TCD6|Q5TCD7|Q76D35|Q7L3E2|Q9H586|Q9H795|Q9H7W7|Q9H9J6|Q9NWA4|Q9NWM4	37	CCDS47993.1																																																																																			NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053082.2		-	ENST00000535387.1	Silent	SNP	9 : 95077968 - 95077968 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	154	47
NPC1	4864	broad.mit.edu	37	18	21136301	21136301	+	Missense_Mutation	SNP	C	C	T	rs77080672	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:21136301C>T	ENST00000269228.5	-	8	1786	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	NPC1_ENST00000412552.2_Missense_Mutation_p.R161Q|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	411					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGAGGGGCCCGGATGATGAG	0.557		NA											C	5	0.0023	0.01	NA	2184	0.0017	0.9998	,	,	NA	5e-04	NA	NA	NA	0.0024	0.9603	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								C	GLN/ARG	26,4380	33.5+/-64.1	0,26,2177	85	80	82		1232	-6	0.2	18	dbSNP_131	82	0,8600		0,0,4300	yes	missense	NPC1	NM_000271.4	43	0,26,6477	TT,TC,CC	NA	0.0,0.5901,0.1999	benign	411/1279	21136301	26,12980	2203	4300	6503	SO:0001583	missense			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458	4864	4864			7897	protein-coding gene	gene with protein product		607623			NA	8446622	Standard	NM_000271	NM_000271	NA	Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1232G>A	18.37:g.21136301C>T	ENSP00000269228:p.Arg411Gln	NA	Q9P130	37	CCDS11878.1	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	1	0.0017482517482517483	0	0.0	C	10.60	1.395669	0.25205	0.005901	0.0	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.88431	-2.38;-2.38	5.45	-6.01	0.02199	.	0.659654	0.15769	N	0.245512	T	0.66567	0.2802	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53514	-0.8428	10	0.19147	T	0.46	-6.5932	13.4678	0.61266	0.0:0.1727:0.0923:0.735	.	422;411	Q59GR1;O15118	.;NPC1_HUMAN	Q	411;161;256	ENSP00000269228:R411Q;ENSP00000408606:R161Q	ENSP00000269228:R411Q	R	-	2	0	NPC1	19390299	0.040000	0.19996	0.217000	0.23759	0.982000	0.71751	0.001000	0.13038	-1.632000	0.01541	-0.137000	0.14449	CGG	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254823.2		-	ENST00000269228.5	Missense_Mutation	SNP	18 : 21136301 - 21136301 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	379	92
OR10G2	26534	broad.mit.edu	37	14	22102229	22102231	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	TAG	TAG	-	-	TAG	TAG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:22102229_22102231delTAG	ENST00000542433.1	-	1	865_867	c.768_770delCTA	c.(766-771)tactat>tat	p.256_257YY>Y		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ACAGGGGACATAGTAGACTGTGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582	26534	26534		GPCR / Class A : Olfactory receptors	8170	protein-coding gene	gene with protein product					NA	8188290	Standard		NM_001005466	NA	Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.768_770delCTA	14.37:g.22102232_22102234delTAG	ENSP00000445383:p.Tyr257del	NA	B2RPD0	37	CCDS32047.1																																																																																			OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401525.1		-	ENST00000542433.1	In_Frame_Del	DEL	14 : 22102229 - 22102231 - PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	264	46
PCDHB16	57717	broad.mit.edu	37	5	140564033	140564033	+	Silent	SNP	C	C	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:140564033C>A	ENST00000361016.2	+	1	3054	c.1899C>A	c.(1897-1899)cgC>cgA	p.R633R		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	26			NA	NA	5		NA											NA				140564033		2060	4023	6083	SO:0001819	synonymous_variant			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963		57717	57717		Cadherins / Protocadherins : Clustered	14546	other	protocadherin	cadherin ME1, protocadherin-3x, PCDHbeta 16	606345			NA	11230163, 11322959	Standard	NM_020957	NM_020957	NA	Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1899C>A	5.37:g.140564033C>A		NA	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	37	CCDS4251.1																																																																																			PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251800.1		+	ENST00000361016.2	Silent	SNP	5 : 140564033 - 140564033 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	575	74
PDCD4	27250	broad.mit.edu	37	10	112649342	112649342	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr10:112649342A>G	ENST00000280154.7	+	7	1103	c.829A>G	c.(829-831)Acc>Gcc	p.T277A	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000393104.2_Missense_Mutation_p.T266A	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	277	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TTTATGTAATACCTATATTGA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(115;1498 1603 9363 40056 40885)							NA				0													166	188	181			NA	NA	10		NA											NA				112649342		2203	4300	6503	SO:0001583	missense			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593	27250	27250			8763	protein-coding gene	gene with protein product	nuclear antigen H731	608610			NA	9759869	Standard	NM_014456	NM_014456	NA	Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.829A>G	10.37:g.112649342A>G	ENSP00000280154:p.Thr277Ala	NA	O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	37	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653401	0.29425	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.40225	1.04;1.04	5.79	4.65	0.58169	Initiation factor eIF-4 gamma, MA3 (1);Armadillo-type fold (1);	0.131375	0.64402	D	0.000002	T	0.20170	0.0485	N	0.05012	-0.13	0.58432	D	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.06303	-1.0834	10	0.07990	T	0.79	-2.3734	12.243	0.54553	0.8724:0.0:0.0:0.1276	.	263;277;266	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	A	277;266	ENSP00000280154:T277A;ENSP00000376816:T266A	ENSP00000280154:T277A	T	+	1	0	PDCD4	112639332	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.923000	0.70045	1.001000	0.39076	0.402000	0.26972	ACC	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050361.1		+	ENST00000280154.7	Missense_Mutation	SNP	10 : 112649342 - 112649342 G PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	1144	348
PDGFRB	5159	broad.mit.edu	37	5	149513526	149513526	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:149513526C>T	ENST00000261799.4	-	5	1146	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	226	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACCCTGGCGGACCACAGT	0.542		NA	T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q31-q32	5159	platelet-derived growth factor receptor, beta polypeptide		L	0													126	110	115			NA	NA	5		NA											NA				149513526		2203	4300	6503	SO:0001583	missense			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721	5159	5159		CD molecules, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	8804	protein-coding gene	gene with protein product		173410		PDGFR	NA		Standard	NM_002609	XM_005268464	NA	Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.677G>A	5.37:g.149513526C>T	ENSP00000261799:p.Arg226His	NA	Q8N5L4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595320	0.86953	.	.	ENSG00000113721	ENST00000261799	T	0.13307	2.6	5.93	5.93	0.95920	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000040	T	0.22627	0.0546	L	0.33753	1.03	0.33579	D	0.599595	B;D;D	0.76494	0.134;0.995;0.999	B;P;P	0.58210	0.015;0.835;0.813	T	0.06807	-1.0806	10	0.56958	D	0.05	.	14.4844	0.67606	0.0:0.9302:0.0:0.0698	.	226;226;226	B5A957;A8KAM8;P09619	.;.;PGFRB_HUMAN	H	226	ENSP00000261799:R226H	ENSP00000261799:R226H	R	-	2	0	PDGFRB	149493719	0.996000	0.38824	1.000000	0.80357	0.962000	0.63368	2.085000	0.41634	2.814000	0.96858	0.563000	0.77884	CGC	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252332.1		-	ENST00000261799.4	Missense_Mutation	SNP	5 : 149513526 - 149513526 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	499	114
PDZRN3	23024	broad.mit.edu	37	3	73433778	73433778	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:73433778G>A	ENST00000479530.1	-	8	1286	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304C|PDZRN3_ENST00000263666.4_Missense_Mutation_p.R647C			Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	647							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGAGCTCGCGGAAGCGCTCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	61	59			NA	NA	3		NA											NA				73433778		2203	4300	6503	SO:0001583	missense			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440	23024	23024		RING-type (C3HC4) zinc fingers	17704	protein-coding gene	gene with protein product	likely ortholog of mouse semaF cytoplasmic domain associated protein 3	609729			NA	10470851	Standard	XM_041363	XM_005264718	NA	Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000479530.1:c.1090C>T	3.37:g.73433778G>A	ENSP00000418624:p.Arg364Cys	NA	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	37		.	.	.	.	.	.	.	.	.	.	G	17.63	3.438370	0.62955	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.13901	2.55;3.25;3.14;3.14;3.26;3.21	4.28	4.28	0.50868	.	0.058403	0.64402	D	0.000002	T	0.35038	0.0918	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;P;P;P	0.64321	0.924;0.739;0.901;0.739	T	0.24512	-1.0158	10	0.87932	D	0	.	16.5215	0.84318	0.0:0.0:1.0:0.0	.	369;364;364;647	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	C	647;369;304;304;364;345	ENSP00000263666:R647C;ENSP00000442026:R369C;ENSP00000418168:R304C;ENSP00000418484:R304C;ENSP00000418624:R364C;ENSP00000419250:R345C	ENSP00000263666:R647C	R	-	1	0	PDZRN3	73516468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.857000	0.62939	2.212000	0.71576	0.655000	0.94253	CGC	PDZRN3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352465.1		-	ENST00000479530.1	Missense_Mutation	SNP	3 : 73433778 - 73433778 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	833	247
PEG3	5178	broad.mit.edu	37	19	57327380	57327380	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:57327380G>A	ENST00000326441.9	-	10	2793	c.2430C>T	c.(2428-2430)ttC>ttT	p.F810F	PEG3_ENST00000423103.2_Silent_p.F810F|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.F686F|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.F684F|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	810					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F810F(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGATAGCATCGAAGCTCTGAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	large_intestine(2)											141	134	136			NA	NA	19		NA											NA				57327380		2203	4300	6503	SO:0001819	synonymous_variant			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2430C>T	19.37:g.57327380G>A		NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1																																																																																			PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Silent	SNP	19 : 57327380 - 57327380 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	1167	313
PES1	23481	broad.mit.edu	37	22	30975143	30975143	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:30975143T>C	ENST00000405677.1	-	15	2028	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	PES1_ENST00000354694.7_Missense_Mutation_p.E501G|PES1_ENST00000402284.3_Missense_Mutation_p.E484G|PES1_ENST00000335214.6_Missense_Mutation_p.E496G|PES1_ENST00000402281.1_Missense_Mutation_p.E362G	NM_001282328.1	NP_001269257.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	501	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CATCCTCTGCTCTTCCAGGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	22		NA											NA				30975143		2203	4300	6503	SO:0001583	missense			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029	23481	23481			8848	protein-coding gene	gene with protein product		605819	pescadillo (zebrafish) homolog 1, containing BRCT domain, pescadillo homolog 1, containing BRCT domain (zebrafish)		NA	8985183, 10591208, 17353269	Standard	NM_014303	NM_014303	NA	Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.1085A>G	22.37:g.30975143T>C	ENSP00000385654:p.Glu362Gly	NA	Q6IC29	37		.	.	.	.	.	.	.	.	.	.	T	12.59	1.982573	0.34942	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	4.02	4.02	0.46733	.	0.584696	0.17257	N	0.180925	T	0.40272	0.1110	M	0.81942	2.565	0.80722	D	1	B;B;B;B	0.16603	0.008;0.018;0.013;0.008	B;B;B;B	0.17098	0.007;0.011;0.017;0.007	T	0.35176	-0.9799	10	0.42905	T	0.14	-12.7264	9.7667	0.40565	0.0:0.0:0.2307:0.7693	.	501;484;496;501	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	G	501;362;362;484;496	ENSP00000346725:E501G;ENSP00000384366:E362G;ENSP00000385654:E362G;ENSP00000384252:E484G;ENSP00000334612:E496G	ENSP00000334612:E496G	E	-	2	0	PES1	29305143	0.068000	0.21057	1.000000	0.80357	0.905000	0.53344	1.076000	0.30729	1.591000	0.50007	0.379000	0.24179	GAG	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321189.2		-	ENST00000405677.1	Missense_Mutation	SNP	22 : 30975143 - 30975143 C PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	158	52
PLIN4	729359	broad.mit.edu	37	19	4513275	4513275	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:4513275C>T	ENST00000301286.3	-	3	654	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	219	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTTTGGTGCCGGTCAGCACA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	139	136			NA	NA	19		NA											NA				4513275		2133	4240	6373	SO:0001583	missense			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676	729359	729359		Perilipins	29393	protein-coding gene	gene with protein product		613247	KIAA1881	KIAA1881	NA	11572484, 19638644	Standard	XM_170901	NM_001080400	NA	Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.655G>A	19.37:g.4513275C>T	ENSP00000301286:p.Gly219Ser	NA	A6NEI2	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625887	0.46840	.	.	ENSG00000167676	ENST00000301286	T	0.15256	2.44	5.01	5.01	0.66863	.	0.000000	0.53938	D	0.000057	T	0.43897	0.1268	M	0.80982	2.52	0.35075	D	0.762835	D	0.89917	1.0	D	0.97110	1.0	T	0.60393	-0.7272	10	0.66056	D	0.02	-30.3146	13.8171	0.63299	0.0:1.0:0.0:0.0	.	219	Q96Q06	PLIN4_HUMAN	S	219	ENSP00000301286:G219S	ENSP00000301286:G219S	G	-	1	0	PLIN4	4464275	0.001000	0.12720	0.900000	0.35374	0.006000	0.05464	0.305000	0.19254	2.313000	0.78055	0.561000	0.74099	GGC	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395095.1		-	ENST00000301286.3	Missense_Mutation	SNP	19 : 4513275 - 4513275 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	1140	290
PRKCD	5580	broad.mit.edu	37	3	53218900	53218900	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:53218900G>T	ENST00000394729.2	+	9	1126	c.798G>T	c.(796-798)atG>atT	p.M266I	PRKCD_ENST00000330452.3_Missense_Mutation_p.M266I	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	266					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		ACTGCGGCATGAATGTGCACC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	72			NA	NA	3		NA											NA				53218900		2203	4300	6503	SO:0001583	missense				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	5580	5580	2.7.11.1		9399	protein-coding gene	gene with protein product		176977			NA	8188219	Standard		NM_006254	NA	Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.798G>T	3.37:g.53218900G>T	ENSP00000378217:p.Met266Ile	NA	B2R834|Q15144|Q86XJ6	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904970	0.72868	.	.	ENSG00000163932	ENST00000394729;ENST00000330452;ENST00000464818	D;D;D	0.84298	-1.83;-1.83;-1.83	5.91	5.91	0.95273	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	L	0.29908	0.895	0.80722	D	1	B;B	0.29188	0.236;0.05	B;B	0.41174	0.349;0.093	T	0.82424	-0.0464	10	0.59425	D	0.04	.	19.07	0.93130	0.0:0.0:1.0:0.0	.	43;266	B0KZ81;Q05655	.;KPCD_HUMAN	I	266;266;194	ENSP00000378217:M266I;ENSP00000331602:M266I;ENSP00000419629:M194I	ENSP00000331602:M266I	M	+	3	0	PRKCD	53193940	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	ATG	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257818.1		+	ENST00000394729.2	Missense_Mutation	SNP	3 : 53218900 - 53218900 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	542	113
PTCHD2	57540	broad.mit.edu	37	1	11596541	11596541	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:11596541C>T	ENST00000294484.6	+	21	4115	c.3977C>T	c.(3976-3978)aCg>aTg	p.T1326M	PTCHD2_ENST00000304391.6_Silent_p.H212H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.T1326M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1326					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCACTCAACACGGGCGTGTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	101	100			NA	NA	1		NA											NA				11596541		2199	4298	6497	SO:0001583	missense			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624	57540	57540			29251	protein-coding gene	gene with protein product		611251			NA	15738394	Standard	XM_052561	NM_020780	NA	Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3977C>T	1.37:g.11596541C>T	ENSP00000294484:p.Thr1326Met	NA	Q5VTU9|Q9UJD6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236822	0.79800	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.91180	-2.8;-1.95	4.78	4.78	0.61160	Membrane transport protein, MMPL type (1);	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	L	0.55834	1.745	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.91570	0.5271	10	0.22109	T	0.4	-9.8263	16.8332	0.85950	0.0:1.0:0.0:0.0	.	1326	Q9P2K9	PTHD2_HUMAN	M	1326	ENSP00000294484:T1326M;ENSP00000374226:T1326M	ENSP00000294484:T1326M	T	+	2	0	PTCHD2	11519128	1.000000	0.71417	0.967000	0.41034	0.979000	0.70002	4.789000	0.62446	2.214000	0.71695	0.561000	0.74099	ACG	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005770.2		+	ENST00000294484.6	Missense_Mutation	SNP	1 : 11596541 - 11596541 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	406	117
RNF213	57674	broad.mit.edu	37	17	78282819	78282819	+	Splice_Site	SNP	A	A	T	rs143170125		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:78282819A>T	ENST00000508628.2	+	15	2795	c.2650A>T	c.(2650-2652)Att>Ttt	p.I884F	RNF213_ENST00000582970.1_Splice_Site_p.I835F|RNF213_ENST00000456466.1_Splice_Site_p.I835F|RNF213_ENST00000319921.4_Splice_Site_p.I835F			Q9HCF4	ALO17_HUMAN	ring finger protein 213	835										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGGGGCAGGATTCCCGAGGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	104	105			NA	NA	17		NA											NA				78282819		2203	4300	6503	SO:0001630	splice_region_variant			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.2649-1A>T	17.37:g.78282819A>T		NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37		.	.	.	.	.	.	.	.	.	.	A	10.63	1.404440	0.25378	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.13538	2.58;2.58	5.38	-4.18	0.03846	.	0.582430	0.16075	N	0.230818	T	0.22551	0.0544	L	0.60455	1.87	0.09310	N	1	D;D	0.67145	0.993;0.996	P;D	0.65010	0.878;0.931	T	0.04467	-1.0949	10	0.62326	D	0.03	-8.6268	7.2259	0.26016	0.2421:0.2827:0.4752:0.0	.	835;835	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	F	835;884;835;835	ENSP00000392123:I835F;ENSP00000324392:I835F	ENSP00000324392:I835F	I	+	1	0	RNF213	75897414	0.390000	0.25213	0.000000	0.03702	0.004000	0.04260	0.107000	0.15375	-0.398000	0.07679	0.533000	0.62120	ATT	RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3	Missense_Mutation	+	ENST00000508628.2	Splice_Site	SNP	17 : 78282819 - 78282819 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	469	153
SMAD4	4089	broad.mit.edu	37	18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:48604736G>T	ENST00000588745.1	+	8	1270	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	SMAD4_ENST00000342988.3_Nonsense_Mutation_p.E520*|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*			Q13485	SMAD4_HUMAN	SMAD family member 4	520	MH2.				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.?(2)|p.E520*(1)		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)		GAGCATCAAAGAAACACCTTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											98	94	96			NA	NA	18		NA											NA				48604736		2203	4300	6503	SO:0001587	stop_gained			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.1270G>T	18.37:g.48604736G>T	ENSP00000464901:p.Glu424*	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	42	9.212720	0.99101	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.08	5.21	0.72293	.	0.097880	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5385	0.67979	0.0714:0.0:0.9286:0.0	.	.	.	.	X	520	.	ENSP00000341551:E520X	E	+	1	0	SMAD4	46858734	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	7.414000	0.80117	1.582000	0.49881	0.655000	0.94253	GAA	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Nonsense_Mutation	SNP	18 : 48604736 - 48604736 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	353	131
SNED1	25992	broad.mit.edu	37	2	241991878	241991878	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:241991878C>T	ENST00000310397.8	+	15	2076	c.2076C>T	c.(2074-2076)tgC>tgT	p.C692C	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Silent_p.C692C|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000405547.3_Silent_p.C692C|SNED1_ENST00000401884.1_Silent_p.C692C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	692	EGF-like 10.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GACGCCGGTGCCAGGCAGGTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	48	46			NA	NA	2		NA											NA				241991878		2057	4188	6245	SO:0001819	synonymous_variant			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804	25992	25992		Fibronectin type III domain containing	24696	protein-coding gene	gene with protein product					NA	12477932	Standard	XM_059482	NM_001080437	NA	Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2076C>T	2.37:g.241991878C>T		NA	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	37	CCDS46562.1																																																																																			SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323935.2		+	ENST00000310397.8	Silent	SNP	2 : 241991878 - 241991878 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	336	26
STXBP5L	9515	broad.mit.edu	37	3	120673880	120673880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:120673880C>T	ENST00000273666.6	+	3	554	c.283C>T	c.(283-285)Cga>Tga	p.R95*	STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R95*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	95					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)		AGGTGCTATACGAATGTATCC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	98	101			NA	NA	3		NA											NA				120673880		1855	4112	5967	SO:0001587	stop_gained			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.283C>T	3.37:g.120673880C>T	ENSP00000273666:p.Arg95*	NA	Q4G1B4|Q6PIC3	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910776	0.92178	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	.	.	.	5.55	2.53	0.30540	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.3558	12.3798	0.55301	0.4358:0.5642:0.0:0.0	.	.	.	.	X	95	.	ENSP00000273666:R95X	R	+	1	2	STXBP5L	122156570	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.116000	0.31221	0.648000	0.30732	-0.314000	0.08810	CGA	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355256.3		+	ENST00000273666.6	Nonsense_Mutation	SNP	3 : 120673880 - 120673880 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	258	80
SYNE1	23345	broad.mit.edu	37	6	152614868	152614868	+	Missense_Mutation	SNP	C	C	T	rs80265744	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:152614868C>T	ENST00000367255.5	-	95	18468	c.17867G>A	c.(17866-17868)cGc>cAc	p.R5956H	SYNE1_ENST00000448038.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R480H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5568H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5956H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5956					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGAGTGTGCGCTGCTTCTC	0.468		NA								HNSCC(10;0.0054)			C	4	0.0018	0.002	NA	2184	0.01	0.9999	,	,	NA	6e-04	NA	NA	NA	0.0018	0.9768	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													112	106	108			NA	NA	6		NA											NA				152614868		2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17867G>A	6.37:g.152614868C>T	ENSP00000356224:p.Arg5956His	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	21.6	4.166008	0.78339	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.37	5.37	0.77165	.	0.000000	0.52532	D	0.000064	T	0.51024	0.1650	L	0.57536	1.79	0.46678	D	0.999154	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.74674	0.845;0.964;0.964;0.984	T	0.52403	-0.8580	10	0.62326	D	0.03	.	19.1163	0.93343	0.0:1.0:0.0:0.0	.	371;5956;5956;5885	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	5956;5885;5956;5885;5568;480;131;178	ENSP00000356224:R5956H;ENSP00000396024:R5885H;ENSP00000265368:R5956H;ENSP00000390975:R5885H;ENSP00000341887:R5568H;ENSP00000349276:R480H;ENSP00000437411:R131H	ENSP00000265368:R5956H	R	-	2	0	SYNE1	152656561	0.973000	0.33851	0.987000	0.45799	0.984000	0.73092	2.334000	0.43920	2.488000	0.83962	0.655000	0.94253	CGC	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152614868 - 152614868 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	634	173
TJP3	27134	broad.mit.edu	37	19	3740730	3740730	+	Silent	SNP	C	C	T	rs139746746	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:3740730C>T	ENST00000541714.2	+	14	2274	c.1812C>T	c.(1810-1812)taC>taT	p.Y604Y	TJP3_ENST00000539908.2_Silent_p.Y568Y|TJP3_ENST00000589378.1_Silent_p.Y613Y|TJP3_ENST00000587686.1_Silent_p.Y623Y|TJP3_ENST00000382008.3_Silent_p.Y618Y|TJP3_ENST00000262968.9_Silent_p.Y637Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	618	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCCGCTACCCGCCCTACG	0.667		NA											C	2	9e-04	0.0041	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.001	0.9336	LOWCOV,EXOME	NA	NA	1e-04	SNP								NA				0								C		14,4390		0,14,2188	19	22	21		1911	2.2	1	19	dbSNP_134	21	0,8598		0,0,4299	no	coding-synonymous	TJP3	NM_014428.1		0,14,6487	TT,TC,CC	NA	0.0,0.3179,0.1077		637/953	3740730	14,12988	2202	4299	6501	SO:0001819	synonymous_variant			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289	27134	27134			11829	protein-coding gene	gene with protein product	zona occludens 3	612689			NA		Standard		NM_001267560	NA	Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1812C>T	19.37:g.3740730C>T		NA	A6NFP3|Q32N01	37	CCDS32873.2																																																																																			TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453434.1		+	ENST00000541714.2	Silent	SNP	19 : 3740730 - 3740730 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	246	49
TNFAIP8L2	79626	broad.mit.edu	37	1	151131265	151131265	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:151131265T>C	ENST00000368910.3	+	2	218	c.92T>C	c.(91-93)aTa>aCa	p.I31T		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	31					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATCTCTTCATAGATGAGACA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	68			NA	NA	1		NA											NA				151131265		2203	4300	6503	SO:0001583	missense			BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154	79626	79626			26277	protein-coding gene	gene with protein product		612112			NA		Standard	NM_024575	NM_024575	NA	Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.92T>C	1.37:g.151131265T>C	ENSP00000357906:p.Ile31Thr	NA	Q6I9Y0|Q9H2H7|Q9H5G2	37	CCDS985.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971377	0.53614	.	.	ENSG00000163154	ENST00000368910	T	0.38240	1.15	5.67	4.55	0.56014	.	0.154981	0.56097	D	0.000023	T	0.24967	0.0606	M	0.62209	1.925	0.58432	D	0.999997	B	0.21147	0.052	B	0.32677	0.15	T	0.12243	-1.0555	10	0.66056	D	0.02	-0.0065	10.7543	0.46228	0.0:0.0756:0.0:0.9244	.	31	Q6P589	TP8L2_HUMAN	T	31	ENSP00000357906:I31T	ENSP00000357906:I31T	I	+	2	0	TNFAIP8L2	149397889	1.000000	0.71417	0.396000	0.26296	0.981000	0.71138	6.301000	0.72782	0.979000	0.38497	0.533000	0.62120	ATA	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034069.2		+	ENST00000368910.3	Missense_Mutation	SNP	1 : 151131265 - 151131265 C PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	561	239
TRADD	8717	broad.mit.edu	37	16	67189164	67189164	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:67189164G>T	ENST00000345057.4	-	4	931	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TRADD_ENST00000486556.1_Missense_Mutation_p.L95M	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	155					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCATCCTCCAGCTCAGCCAGT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	12			NA	NA	16		NA											NA				67189164		2191	4292	6483	SO:0001583	missense			L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871	8717	8717			12030	protein-coding gene	gene with protein product		603500			NA	7758105	Standard		NM_003789	NA	Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.463C>A	16.37:g.67189164G>T	ENSP00000341268:p.Leu155Met	NA	B2RDS3|Q52NZ1	37	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372993	0.24857	.	.	ENSG00000102871	ENST00000345057	.	.	.	5.25	2.14	0.27477	TRADD, N-terminal (4);	0.000000	0.64402	D	0.000002	T	0.67951	0.2948	L	0.61218	1.895	0.40142	D	0.976847	D	0.76494	0.999	D	0.87578	0.998	T	0.67173	-0.5737	9	0.66056	D	0.02	-16.4405	7.1941	0.25843	0.2817:0.0:0.7183:0.0	.	155	Q15628	TRADD_HUMAN	M	155	.	ENSP00000341268:L155M	L	-	1	2	TRADD	65746665	0.997000	0.39634	0.986000	0.45419	0.268000	0.26511	1.890000	0.39728	0.517000	0.28361	0.448000	0.29417	CTG	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268841.2		-	ENST00000345057.4	Missense_Mutation	SNP	16 : 67189164 - 67189164 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	69	27
TTN	7273	broad.mit.edu	37	2	179599224	179599224	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:179599224G>C	ENST00000589042.1	-	52	15551	c.15327C>G	c.(15325-15327)ttC>ttG	p.F5109L	TTN_ENST00000342992.6_Missense_Mutation_p.F3865L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F4792L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4792	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGTCTTTGAACCAGCTAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	90			NA	NA	2		NA											NA				179599224		1844	4107	5951	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.15327C>G	2.37:g.179599224G>C	ENSP00000467141:p.Phe5109Leu	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.405691	0.25378	.	.	ENSG00000155657	ENST00000342992	T	0.69685	-0.42	5.76	2.58	0.30949	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51415	0.1673	L	0.31804	0.96	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.50013	-0.8877	9	0.87932	D	0	.	7.701	0.28623	0.4401:0.0:0.5599:0.0	.	4792	Q8WZ42	TITIN_HUMAN	L	3865	ENSP00000343764:F3865L	ENSP00000343764:F3865L	F	-	3	2	TTN	179307469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.267000	0.33050	0.761000	0.33130	0.563000	0.77884	TTC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179599224 - 179599224 C PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	673	160
UMOD	7369	broad.mit.edu	37	16	20357476	20357476	+	Missense_Mutation	SNP	C	C	T	rs141355380		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:20357476C>T	ENST00000396134.2	-	6	1376	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q	UMOD_ENST00000424589.1_Missense_Mutation_p.R418Q|UMOD_ENST00000302509.4_Missense_Mutation_p.R385Q|UMOD_ENST00000570689.1_Missense_Mutation_p.R385Q|UMOD_ENST00000396138.4_Missense_Mutation_p.R434Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R385Q	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	385	ZP.				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						GGGGCCATCCCGGGCTGGGGT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	36	38	37		1154,1154	1.2	0.1	16	dbSNP_134	37	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	UMOD	NM_001008389.1,NM_003361.2	43,43	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	benign,benign	385/641,385/641	20357476	2,13004	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	ENST00000396134.2:c.1253G>A	16.37:g.20357476C>T	ENSP00000379438:p.Arg418Gln	NA	B3KP48|B3KRN9|Q540J6|Q6ZS84|Q8IYG0	37		.	.	.	.	.	.	.	.	.	.	C	0.028	-1.351257	0.01256	0.0	2.33E-4	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.85	1.24	0.21308	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.284901	0.25117	N	0.033014	T	0.49474	0.1559	N	0.03050	-0.425	0.09310	N	0.999999	B;B	0.16603	0.018;0.001	B;B	0.18263	0.021;0.01	T	0.45308	-0.9270	10	0.02654	T	1	-14.2103	6.7516	0.23489	0.0:0.4899:0.0:0.5101	.	418;385	E9PEA4;P07911	.;UROM_HUMAN	Q	385;418;418;385;363;385	ENSP00000379438:R418Q;ENSP00000416346:R418Q;ENSP00000306279:R385Q;ENSP00000379446:R385Q	ENSP00000306279:R385Q	R	-	2	0	UMOD	20264977	0.025000	0.19082	0.120000	0.21714	0.279000	0.26890	-0.272000	0.08560	0.336000	0.23639	-0.424000	0.05967	CGG	UMOD-002	NOVEL	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000254334.2		-	ENST00000396134.2	Missense_Mutation	SNP	16 : 20357476 - 20357476 T PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	294	74
VGLL1	51442	broad.mit.edu	37	X	135618242	135618242	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:135618242G>A	ENST00000370634.3	+	2	233	c.63G>A	c.(61-63)acG>acA	p.T21T		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.T21T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTATAAAGACGGAATGGAATT	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)											101	96	98			NA	NA	X		NA											NA				135618242		2203	4300	6503	SO:0001819	synonymous_variant			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243	51442	51442			20985	protein-coding gene	gene with protein product		300583	vestigial like 1 (Drosophila)		NA	10518497	Standard	NM_016267	NM_016267	NA	Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.63G>A	X.37:g.135618242G>A		NA	Q5H915	37	CCDS14658.1																																																																																			VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058493.1		+	ENST00000370634.3	Silent	SNP	X : 135618242 - 135618242 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	533	206
ZCCHC16	340595	broad.mit.edu	37	X	111697971	111697971	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:111697971G>A	ENST00000340433.2	+	1	245	c.15G>A	c.(13-15)acG>acA	p.T5T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	5							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAAGTGCACGAAATCATCAT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	90	95			NA	NA	X		NA											NA				111697971		2203	4300	6503	SO:0001819	synonymous_variant			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823	340595	340595		Zinc fingers, CCHC domain containing	25214	protein-coding gene	gene with protein product					NA	15716091, 16093683	Standard	NM_001004308	NM_001004308	NA	Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.15G>A	X.37:g.111697971G>A		NA	B2RPG1	37	CCDS35369.1																																																																																			ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356964.1		+	ENST00000340433.2	Silent	SNP	X : 111697971 - 111697971 A PAAD-TCGA-HV-A5A4-Tumor-SM-47KKR	678	210
