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
ACOT7	11332	broad.mit.edu	37	1	6409894	6409894	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:6409894C>T	ENST00000361521.4	-	2	1167	c.176G>A	c.(175-177)gGc>gAc	p.G59D	ACOT7_ENST00000377855.2_Missense_Mutation_p.G69D|ACOT7_ENST00000541130.1_Missense_Mutation_p.G39D|ACOT7_ENST00000377842.3_Missense_Mutation_p.G18D|ACOT7_ENST00000377845.3_Missense_Mutation_p.G39D|ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000608083.1_Missense_Mutation_p.G27D	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	69	Acyl coenzyme A hydrolase 1.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GTGGACATTGCCGGCCACGTT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(74;673 1226 4974 11850 13190)							NA				0													63	53	57			NA	NA	1		NA											NA				6409894		2203	4300	6503	SO:0001583	missense			AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021	11332	11332		Acyl CoA thioesterases	24157	protein-coding gene	gene with protein product	brain acyl CoA hydrolase	602587			NA	10578051, 16103133, 16940157	Standard	NM_007274	XM_005263427	NA	Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000361521.4:c.176G>A	1.37:g.6409894C>T	ENSP00000354615:p.Gly59Asp	NA	A8K0K7|A8K232|A8K6B8|A8K837|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	37	CCDS30573.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993767	0.93167	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000541130	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.48	4.48	0.54585	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.75085	2.285	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.991;1.0;0.987	T	0.72327	-0.4327	10	0.72032	D	0.01	.	14.7432	0.69472	0.0:1.0:0.0:0.0	.	59;69;39;18	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	D	69;39;18;59;39	ENSP00000367086:G69D;ENSP00000367076:G39D;ENSP00000367073:G18D;ENSP00000354615:G59D;ENSP00000441872:G39D	ENSP00000354615:G59D	G	-	2	0	ACOT7	6332481	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	7.065000	0.76727	2.349000	0.79799	0.650000	0.86243	GGC	ACOT7-006	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003778.2		-	ENST00000361521.4	Missense_Mutation	SNP	1 : 6409894 - 6409894 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	259	5
AGO1	26523	broad.mit.edu	37	1	36359375	36359375	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:36359375C>T	ENST00000373204.4	+	5	826	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	AGO1_ENST00000373206.1_Missense_Mutation_p.R130C	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1	NA											NA						CCAGTCTGTGCGCCCTGCCAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	69			NA	NA	1		NA											NA				36359375		2203	4300	6503	SO:0001583	missense			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847	26523	26523		Argonaute/PIWI family	3262	protein-coding gene	gene with protein product	argonaute 1	606228	eukaryotic translation initiation factor 2C, 1	EIF2C1	NA	10534406, 12906857	Standard		NM_012199	NA	Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.613C>T	1.37:g.36359375C>T	ENSP00000362300:p.Arg205Cys	NA		37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729555	0.69074	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.15487	2.42;2.52	5.93	5.93	0.95920	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67643	-0.5618	10	0.87932	D	0	-19.1719	15.6785	0.77349	0.1985:0.8015:0.0:0.0	.	205	Q9UL18	AGO1_HUMAN	C	130;205	ENSP00000362302:R130C;ENSP00000362300:R205C	ENSP00000362300:R205C	R	+	1	0	EIF2C1	36131962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.086000	0.41643	2.818000	0.97014	0.591000	0.81541	CGC	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019337.3		+	ENST00000373204.4	Missense_Mutation	SNP	1 : 36359375 - 36359375 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	330	5
ANKRD34A	284615	broad.mit.edu	37	1	145474624	145474624	+	Silent	SNP	C	C	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:145474624C>A	ENST00000323397.4	+	4	2589	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	432	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACGTCAGTCCCCACCCTCCCA	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	23	24			NA	NA	1		NA											NA				145474624		2202	4290	6492	SO:0001819	synonymous_variant			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031	284615	284615		Ankyrin repeat domain containing	27639	protein-coding gene	gene with protein product			ankyrin repeat domain 34	ANKRD34	NA		Standard		NM_001039888	NA	Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1296C>A	1.37:g.145474624C>A		NA	B3KSU3	37	CCDS30829.1																																																																																			ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038512.1		+	ENST00000323397.4	Silent	SNP	1 : 145474624 - 145474624 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	207	4
ARFGEF1	10565	broad.mit.edu	37	8	68170031	68170031	+	Missense_Mutation	SNP	G	G	A	rs143470468		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:68170031G>A	ENST00000262215.3	-	17	2851	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A275V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	821	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGCTGTATCCGCACTAGCAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	117	116			NA	NA	8		NA											NA				68170031		2203	4299	6502	SO:0001583	missense			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777	10565	10565			15772	protein-coding gene	gene with protein product		604141			NA	10212200, 8917509	Standard	NM_006421	NM_006421	NA	Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2462C>T	8.37:g.68170031G>A	ENSP00000262215:p.Ala821Val	NA	Q9NV46|Q9UFV2|Q9UNL0	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351328	0.95830	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.56611	0.45;0.45	5.2	5.2	0.72013	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82959	-0.0198	10	0.87932	D	0	.	18.7643	0.91866	0.0:0.0:1.0:0.0	.	821;275	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	V	275;821	ENSP00000428429:A275V;ENSP00000262215:A821V	ENSP00000262215:A821V	A	-	2	0	ARFGEF1	68332585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.420000	0.82092	0.563000	0.77884	GCG	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379441.4		-	ENST00000262215.3	Missense_Mutation	SNP	8 : 68170031 - 68170031 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	518	5
ASPRV1	151516	broad.mit.edu	37	2	70187919	70187919	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:70187919C>T	ENST00000320256.4	-	1	1478	c.902G>A	c.(901-903)cGc>cAc	p.R301H		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	301					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GGTGCATGTGCGGTGCTCAAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	162	166			NA	NA	2		NA											NA				70187919		2203	4300	6503	SO:0001583	missense			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617	151516	151516			26321	protein-coding gene	gene with protein product	Skin ASpartic Protease	611765			NA	16098038, 16565508	Standard	NM_152792	NM_152792	NA	Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.902G>A	2.37:g.70187919C>T	ENSP00000315383:p.Arg301His	NA	Q8N5P2|Q96LT3|Q96N43	37	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418130	0.83449	.	.	ENSG00000244617	ENST00000320256	T	0.51071	0.72	5.38	5.38	0.77491	.	0.000000	0.43110	D	0.000601	T	0.55130	0.1901	N	0.24115	0.695	0.38945	D	0.958225	D	0.89917	1.0	D	0.83275	0.996	T	0.60500	-0.7251	10	0.59425	D	0.04	-16.4374	14.6246	0.68611	0.0:1.0:0.0:0.0	.	301	Q53RT3	APRV1_HUMAN	H	301	ENSP00000315383:R301H	ENSP00000315383:R301H	R	-	2	0	ASPRV1	70041423	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.858000	0.55979	2.530000	0.85305	0.655000	0.94253	CGC	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334161.1		-	ENST00000320256.4	Missense_Mutation	SNP	2 : 70187919 - 70187919 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	830	8
ASTN2	23245	broad.mit.edu	37	9	119568096	119568096	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:119568096G>A	ENST00000361209.2	-	12	2189	c.2058C>T	c.(2056-2058)tgC>tgT	p.C686C	ASTN2_ENST00000373996.3_Silent_p.C733C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000313400.4_Silent_p.C737C	NM_014010.4	NP_054729.3	O75129	ASTN2_HUMAN	astrotactin 2	737	EGF-like 2.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTCCTCCACGCAACTGTATG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	107	108			NA	NA	9		NA											NA				119568096		2203	4300	6503	SO:0001819	synonymous_variant			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219	23245	23245			17021	protein-coding gene	gene with protein product		612856			NA	9734811	Standard	NM_014010	NM_014010	NA	Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000361209.2:c.2058C>T	9.37:g.119568096G>A		NA	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	37	CCDS6815.1																																																																																			ASTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055428.2		-	ENST00000361209.2	Silent	SNP	9 : 119568096 - 119568096 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	491	5
ATG9A	79065	broad.mit.edu	37	2	220089227	220089227	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:220089227C>T	ENST00000409618.1	-	8	1305	c.866G>A	c.(865-867)cGc>cAc	p.R289H	ATG9A_ENST00000409422.1_Missense_Mutation_p.R228H|ATG9A_ENST00000361242.4_Missense_Mutation_p.R289H|ATG9A_ENST00000396761.2_Missense_Mutation_p.R289H			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	289					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACAGGATGCGGTTGCTGAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	43	40			NA	NA	2		NA											NA				220089227		2073	4194	6267	SO:0001583	missense			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925	79065	79065			22408	protein-coding gene	gene with protein product		612204	APG9 autophagy 9-like 1 (S. cerevisiae), ATG9 autophagy related 9 homolog A (S. cerevisiae)	APG9L1	NA		Standard	NM_024085	NM_024085	NA	Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.866G>A	2.37:g.220089227C>T	ENSP00000386710:p.Arg289His	NA	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	37	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749084	0.49257	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.39592	1.51;1.51;1.51;1.07	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	L	0.46885	1.475	0.50632	D	0.999889	D	0.89917	1.0	D	0.68353	0.957	T	0.55915	-0.8065	10	0.42905	T	0.14	.	18.9912	0.92793	0.0:1.0:0.0:0.0	.	289	Q7Z3C6	ATG9A_HUMAN	H	289;289;289;228	ENSP00000379983:R289H;ENSP00000386710:R289H;ENSP00000355173:R289H;ENSP00000386535:R228H	ENSP00000355173:R289H	R	-	2	0	ATG9A	219797471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.953000	0.70290	2.481000	0.83766	0.655000	0.94253	CGC	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335930.1		-	ENST00000409618.1	Missense_Mutation	SNP	2 : 220089227 - 220089227 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	156	33
ATP2B2	491	broad.mit.edu	37	3	10417285	10417285	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:10417285G>A	ENST00000397077.1	-	10	1685	c.1110C>T	c.(1108-1110)taC>taT	p.Y370Y	ATP2B2_ENST00000383800.4_Silent_p.Y370Y|ATP2B2_ENST00000360273.2_Silent_p.Y415Y|ATP2B2_ENST00000343816.4_Silent_p.Y401Y|ATP2B2_ENST00000352432.4_Silent_p.Y415Y			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	415					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCACAGTGAAGTAGAGCACCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(125;1619 1709 15675 19819 38835)							NA				0													76	63	67			NA	NA	3		NA											NA				10417285		2203	4300	6503	SO:0001819	synonymous_variant			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	491	491	3.6.3.8	ATPases / P-type	815	protein-coding gene	gene with protein product	plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2	108733			NA	1313367	Standard	NM_001683	NM_001001331	NA	Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000397077.1:c.1110C>T	3.37:g.10417285G>A		NA	O00766|Q12994|Q16818	37	CCDS2601.1																																																																																			ATP2B2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276089.2		-	ENST00000397077.1	Silent	SNP	3 : 10417285 - 10417285 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	250	59
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:84476138C>T	ENST00000416219.2	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,3772		0,0,1886	177	179	179		1334	4.9	0.9	16		179	1,8231		0,1,4115	no	missense	ATP2C2	NM_014861.2	64	0,1,6001	TT,TC,CC	NA	0.0121,0.0,0.0083	possibly-damaging	445/947	84476138	1,12003	1886	4116	6002	SO:0001583	missense			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	9914	9914	3.6.3.8	ATPases / P-type	29103	protein-coding gene	gene with protein product	secretory pathway calcium ATPase 2	613082			NA	9734811	Standard	NM_014861	XM_006721355	NA	Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000416219.2:c.1334C>T	16.37:g.84476138C>T	ENSP00000397925:p.Ala445Val	NA	B4DU76|Q5S053|Q68CQ2	37		.	.	.	.	.	.	.	.	.	.	C	29.5	5.015619	0.93404	0.0	1.21E-4	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74002	-0.8;-0.8	4.92	4.92	0.64577	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.416605	0.24280	N	0.039912	D	0.86851	0.6032	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;P;D	0.81914	0.918;0.987;0.79;0.995	D	0.88725	0.3232	10	0.87932	D	0	.	17.4464	0.87579	0.0:1.0:0.0:0.0	.	445;294;462;445	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	445;445;294	ENSP00000397925:A445V;ENSP00000262429:A445V	ENSP00000262429:A445V	A	+	2	0	ATP2C2	83033639	1.000000	0.71417	0.938000	0.37757	0.625000	0.37756	7.069000	0.76755	2.436000	0.82500	0.491000	0.48974	GCG	ATP2C2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000433405.1		+	ENST00000416219.2	Missense_Mutation	SNP	16 : 84476138 - 84476138 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	1328	8
B4GALNT3	283358	broad.mit.edu	37	12	667679	667679	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:667679G>A	ENST00000266383.5	+	18	2626	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	871						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCAGGACCCGCACAGCATCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	150	158			NA	NA	12		NA											NA				667679		2203	4300	6503	SO:0001819	synonymous_variant			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	283358	283358	2.4.1.-	Beta 4-glycosyltransferases	24137	protein-coding gene	gene with protein product		612220			NA	12966086	Standard	NM_173593	NM_173593	NA	Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2613G>A	12.37:g.667679G>A		NA	Q6ZNC1|Q8N7T6	37	CCDS8504.1																																																																																			B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251406.2		+	ENST00000266383.5	Silent	SNP	12 : 667679 - 667679 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	900	6
C14orf93	60686	broad.mit.edu	37	14	23467783	23467783	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:23467783G>A	ENST00000299088.6	-	2	879	c.450C>T	c.(448-450)agC>agT	p.S150S	C14orf93_ENST00000397379.3_Silent_p.S150S|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000341470.4_Silent_p.S150S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Silent_p.S150S|C14orf93_ENST00000397382.4_Silent_p.S150S	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	150						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCTGCACGCCGCTGCCCACGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	37	37			NA	NA	14		NA											NA				23467783		2203	4300	6503	SO:0001819	synonymous_variant			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802	60686	60686			20162	protein-coding gene	gene with protein product					NA		Standard	NM_021944	XM_005267971	NA	Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.450C>T	14.37:g.23467783G>A		NA	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	37	CCDS9583.1																																																																																			C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071688.5		-	ENST00000299088.6	Silent	SNP	14 : 23467783 - 23467783 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	212	5
C20orf26	0	broad.mit.edu	37	20	20071525	20071525	+	Missense_Mutation	SNP	C	C	T	rs139381407		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:20071525C>T	ENST00000245957.5	+	7	680	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	C20orf26_ENST00000377306.1_Missense_Mutation_p.R202C|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R202C	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		202										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AATATTTATGCGCTATGACAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	195	200			NA	NA	20		NA											NA				20071525		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000245957.5:c.604C>T	20.37:g.20071525C>T	ENSP00000245957:p.Arg202Cys	NA	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292464	0.40594	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000472660	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.62	4.68	0.58851	Acyl-CoA N-acyltransferase (2);	0.294938	0.35013	N	0.003506	T	0.53610	0.1807	M	0.61703	1.905	0.35895	D	0.829995	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	P;D;P;P	0.64595	0.804;0.927;0.905;0.629	T	0.65776	-0.6086	10	0.62326	D	0.03	.	12.4192	0.55510	0.0:0.8606:0.0:0.1394	.	202;202;156;202	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	C	156;202;202;202;202;202;98	ENSP00000345553:R156C;ENSP00000245957:R202C;ENSP00000366521:R202C;ENSP00000414537:R202C;ENSP00000420498:R98C	ENSP00000245957:R202C	R	+	1	0	C20orf26	20019525	0.585000	0.26774	0.174000	0.22961	0.238000	0.25445	2.466000	0.45084	1.377000	0.46286	0.655000	0.94253	CGC	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078228.3		+	ENST00000245957.5	Missense_Mutation	SNP	20 : 20071525 - 20071525 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	890	6
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:21974679G>A	ENST00000304494.5	-	1	418	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1346	Whole gene deletion(1316)|Unknown(25)|Substitution - Nonsense(4)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM023895	CDKN2A	M							86	102	96			NA	NA	9		NA											NA				21974679		2203	4300	6503	SO:0001587	stop_gained			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.148C>T	9.37:g.21974679G>A	ENSP00000307101:p.Gln50*	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216266	0.79352	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	17.3226	0.87240	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000307101:Q50X	Q	-	1	0	CDKN2A	21964679	1.000000	0.71417	0.998000	0.56505	0.129000	0.20672	5.147000	0.64851	2.681000	0.91329	0.655000	0.94253	CAG	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051915.1		-	ENST00000304494.5	Nonsense_Mutation	SNP	9 : 21974679 - 21974679 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	962	243
CHST1	8534	broad.mit.edu	37	11	45671609	45671609	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:45671609G>A	ENST00000308064.2	-	4	1535	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	289					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CACGGGGGCCGCATGAGGCCG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	77	80			NA	NA	11		NA											NA				45671609		2203	4299	6502	SO:0001583	missense			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264	8534	8534		Sulfotransferases, membrane-bound	1969	protein-coding gene	gene with protein product		603797			NA	9405439, 9639683	Standard	NM_003654	NM_003654	NA	Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.865C>T	11.37:g.45671609G>A	ENSP00000309270:p.Arg289Trp	NA	D3DQP2	37	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821565	0.71028	.	.	ENSG00000175264	ENST00000308064	T	0.76316	-1.01	4.89	4.89	0.63831	Sulfotransferase domain (1);	0.062547	0.64402	D	0.000005	D	0.86422	0.5929	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.70935	0.971	D	0.85721	0.1325	10	0.37606	T	0.19	-19.3412	18.0436	0.89326	0.0:0.0:1.0:0.0	.	289	O43916	CHST1_HUMAN	W	289	ENSP00000309270:R289W	ENSP00000309270:R289W	R	-	1	2	CHST1	45628185	1.000000	0.71417	0.850000	0.33497	0.988000	0.76386	5.503000	0.66962	2.252000	0.74401	0.462000	0.41574	CGG	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390127.1		-	ENST00000308064.2	Missense_Mutation	SNP	11 : 45671609 - 45671609 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	553	5
CHSY3	337876	broad.mit.edu	37	5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	rs140992502		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	412						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGCTCAGCCGCAAAATTTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	98	89	92		1235	4.5	1	5	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHSY3	NM_175856.4	29	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	possibly-damaging	412/883	129520070	2,13004	2203	4300	6503	SO:0001583	missense			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	337876	337876	2.4.1.175, 2.4.1.226	Beta 3-glycosyltransferases, Beta 4-glycosyltransferases	24293	protein-coding gene	gene with protein product		609963			NA	12907687	Standard	NM_175856	XM_005271982	NA	Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1235G>A	5.37:g.129520070G>A	ENSP00000302629:p.Arg412His	NA	B2RP97|Q76L22|Q86Y52	37	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647807	0.87958	0.0	2.33E-4	ENSG00000198108	ENST00000305031	T	0.15834	2.39	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000016	T	0.27241	0.0668	M	0.65975	2.015	0.80722	D	1	P	0.48998	0.918	P	0.45998	0.5	T	0.03017	-1.1082	9	.	.	.	-2.8659	18.5119	0.90920	0.0:0.0:1.0:0.0	.	412	Q70JA7	CHSS3_HUMAN	H	412	ENSP00000302629:R412H	.	R	+	2	0	CHSY3	129547969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.779000	0.95612	0.650000	0.86243	CGC	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371453.1		+	ENST00000305031.4	Missense_Mutation	SNP	5 : 129520070 - 129520070 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	365	6
CYP1A2	1544	broad.mit.edu	37	15	75043540	75043540	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:75043540G>A	ENST00000343932.4	+	3	905	c.842G>A	c.(841-843)cGg>cAg	p.R281Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	281			R -> W (in dbSNP:rs45468096).		alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AACAGTGTCCGGGACATCACG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	82	88			NA	NA	15		NA											NA				75043540		2197	4296	6493	SO:0001583	missense			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1544	1544	1.14.14.1	Cytochrome P450s	2596	protein-coding gene	gene with protein product		124060	cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2		NA	15128046	Standard	NM_000761	NM_000761	NA	Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.842G>A	15.37:g.75043540G>A	ENSP00000342007:p.Arg281Gln	NA	Q16754|Q6NWU5|Q9BXX7|Q9UK49	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663059	0.29515	.	.	ENSG00000140505	ENST00000343932	T	0.70869	-0.52	4.85	3.72	0.42706	.	0.106321	0.64402	N	0.000004	T	0.57607	0.2065	L	0.45285	1.41	0.34065	D	0.657722	B	0.06786	0.001	B	0.08055	0.003	T	0.59144	-0.7509	10	0.39692	T	0.17	.	5.5956	0.17325	0.7456:0.0:0.2544:0.0	.	281	P05177-2	.	Q	281	ENSP00000342007:R281Q	ENSP00000342007:R281Q	R	+	2	0	CYP1A2	72830593	1.000000	0.71417	0.999000	0.59377	0.410000	0.31052	3.556000	0.53734	0.865000	0.35603	-0.598000	0.04106	CGG	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421263.2		+	ENST00000343932.4	Missense_Mutation	SNP	15 : 75043540 - 75043540 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	302	7
CYTH4	27128	broad.mit.edu	37	22	37707094	37707094	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr22:37707094G>A	ENST00000248901.6	+	10	1061	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	292	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CTACTACTTCGAGTTCACCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	125	136			NA	NA	22		NA											NA				37707094		2203	4300	6503	SO:0001583	missense			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055	27128	27128		Pleckstrin homology (PH) domain containing	9505	protein-coding gene	gene with protein product		606514	pleckstrin homology, Sec7 and coiled/coil domains 4, pleckstrin homology, Sec7 and coiled-coil domains 4	PSCD4	NA	10591208	Standard		NM_013385	NA	Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.874G>A	22.37:g.37707094G>A	ENSP00000248901:p.Glu292Lys	NA	Q5R3F9|Q9UGT6	37	CCDS13946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.46|16.46	3.130571|3.130571	0.56828|0.56828	.|.	.|.	ENSG00000100055|ENSG00000100055	ENST00000248901|ENST00000446506	T|.	0.72725|.	-0.68|.	4.7|4.7	4.7|4.7	0.59300|0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.054141|.	0.64402|.	D|.	0.000001|.	T|T	0.46092|0.46092	0.1375|0.1375	N|N	0.10972|0.10972	0.075|0.075	0.80722|0.80722	D|D	1|1	P|.	0.40211|.	0.707|.	B|.	0.32583|.	0.148|.	T|T	0.41680|0.41680	-0.9495|-0.9495	10|5	0.31617|.	T|.	0.26|.	.|.	16.7637|16.7637	0.85519|0.85519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	292|.	Q9UIA0|.	CYH4_HUMAN|.	K|Q	292|44	ENSP00000248901:E292K|.	ENSP00000248901:E292K|.	E|R	+|+	1|2	0|0	CYTH4|CYTH4	36037040|36037040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.751000|7.751000	0.85126|0.85126	2.309000|2.309000	0.77851|0.77851	0.655000|0.655000	0.94253|0.94253	GAG|CGA	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318917.1		+	ENST00000248901.6	Missense_Mutation	SNP	22 : 37707094 - 37707094 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	719	167
DIAPH3	81624	broad.mit.edu	37	13	60557994	60557994	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:60557994C>T	ENST00000400324.4	-	13	1609	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	DIAPH3_ENST00000400319.1_Silent_p.E393E|DIAPH3_ENST00000267215.4_Silent_p.E463E|DIAPH3_ENST00000400330.1_Silent_p.E463E|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.E417E|DIAPH3_ENST00000377908.2_Silent_p.E452E	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	463	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGGATACACACTCATCAATTA	0.313		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	13		NA											NA				60557994		1842	4087	5929	SO:0001819	synonymous_variant			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734	81624	81624			15480	protein-coding gene	gene with protein product		614567	diaphanous (Drosophila, homolog) 3, auditory neuropathy, autosomal dominant 1, diaphanous homolog 3 (Drosophila)	AUNA1	NA	14767582, 20624953	Standard	NM_001042517	NM_030932	NA	Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1389G>A	13.37:g.60557994C>T		NA	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	37	CCDS41898.1																																																																																			DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045166.3		-	ENST00000400324.4	Silent	SNP	13 : 60557994 - 60557994 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	610	117
DNAH1	25981	broad.mit.edu	37	3	52383089	52383089	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:52383089C>T	ENST00000420323.2	+	13	2553	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	764	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACATTGCCTCCTTTCTCAAGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	131	130			NA	NA	3		NA											NA				52383089		2193	4279	6472	SO:0001819	synonymous_variant			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	25981	25981		Axonemal dyneins	2940	protein-coding gene	gene with protein product		603332	dynein, axonemal, heavy polypeptide 1		NA	8812413, 9256245	Standard	NM_015512	NM_015512	NA	Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2292C>T	3.37:g.52383089C>T		NA	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	37	CCDS46842.1																																																																																			DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350816.1		+	ENST00000420323.2	Silent	SNP	3 : 52383089 - 52383089 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	273	59
DNMT3A	1788	broad.mit.edu	37	2	25471001	25471001	+	Missense_Mutation	SNP	C	C	T	rs146110707	by1000genomes	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:25471001C>T	ENST00000264709.3	-	7	1097	c.760G>A	c.(760-762)Gca>Aca	p.A254T	DNMT3A_ENST00000380746.4_Missense_Mutation_p.A65T|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A31T|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A254T	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	254	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGGGGATGCGGGGTCAGTG	0.627		NA	Mis, F, N, S		AML								C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													62	65	64			NA	NA	2		NA											NA				25471001		2203	4300	6503	SO:0001583	missense				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772	1788	1788			2978	protein-coding gene	gene with protein product		602769			NA	9662389, 10433969	Standard	NM_022552	NM_175630	NA	Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.760G>A	2.37:g.25471001C>T	ENSP00000264709:p.Ala254Thr	NA	Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	37	CCDS33157.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.5	4.928743	0.92389	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.93366	-3.21;-3.2;-3.2;-3.21	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	N	0.24115	0.695	0.80722	D	1	P;D	0.61080	0.846;0.989	B;P	0.46917	0.071;0.531	D	0.89436	0.3720	10	0.31617	T	0.26	-4.9539	18.2356	0.89948	0.0:1.0:0.0:0.0	.	254;65	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	T	65;254;254;31	ENSP00000370122:A65T;ENSP00000324375:A254T;ENSP00000264709:A254T;ENSP00000384237:A31T	ENSP00000264709:A254T	A	-	1	0	DNMT3A	25324505	1.000000	0.71417	0.319000	0.25293	0.901000	0.52897	7.054000	0.76649	2.653000	0.90120	0.563000	0.77884	GCA	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211587.1		-	ENST00000264709.3	Missense_Mutation	SNP	2 : 25471001 - 25471001 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	503	8
EFHD1	80303	broad.mit.edu	37	2	233546356	233546356	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:233546356G>A	ENST00000264059.3	+	4	1124	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	EFHD1_ENST00000410095.1_Missense_Mutation_p.R104Q|EFHD1_ENST00000409708.1_Missense_Mutation_p.R104Q|EFHD1_ENST00000409613.1_Missense_Mutation_p.R120Q	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	216							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CAAGATGAGCGGAAGCGGGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	98	101			NA	NA	2		NA											NA				233546356		2203	4300	6503	SO:0001583	missense				CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468	80303	80303		EF-hand domain containing	29556	protein-coding gene	gene with protein product	swiprosin-2	611617	EF hand domain containing 1		NA	21244694	Standard	NM_025202	NM_025202	NA	Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.647G>A	2.37:g.233546356G>A	ENSP00000264059:p.Arg216Gln	NA	B2RD83|Q9BTF8|Q9H8I2|Q9HBQ0	37	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827702	0.90955	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000410095	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.65	3.7	0.42460	.	0.332624	0.29715	N	0.011387	T	0.37376	0.1001	L	0.58302	1.8	0.58432	D	0.999998	P;P	0.44006	0.824;0.824	B;B	0.38156	0.121;0.266	T	0.34104	-0.9842	10	0.52906	T	0.07	-5.5142	11.0327	0.47783	0.0:0.14:0.7149:0.1451	.	120;216	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	Q	120;216;119;104;104	ENSP00000386556:R120Q;ENSP00000264059:R216Q;ENSP00000386243:R104Q;ENSP00000386685:R104Q	ENSP00000264059:R216Q	R	+	2	0	EFHD1	233254600	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.562000	0.36353	1.362000	0.46000	0.586000	0.80456	CGG	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257040.2		+	ENST00000264059.3	Missense_Mutation	SNP	2 : 233546356 - 233546356 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	554	5
ENC1	8507	broad.mit.edu	37	5	73931388	73931388	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:73931388T>A	ENST00000510316.1	-	2	1917	c.704A>T	c.(703-705)gAc>gTc	p.D235V	ENC1_ENST00000302351.4_Missense_Mutation_p.D308V|ENC1_ENST00000537006.1_Missense_Mutation_p.D308V	NM_001256576.1	NP_001243505.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	308					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATACAACTTGTCACACATGAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	99	97			NA	NA	5		NA											NA				73931388		2203	4300	6503	SO:0001583	missense			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617	8507	8507		Kelch-like, BTB/POZ domain containing	3345	protein-coding gene	gene with protein product	kelch-like family member 37	605173	ectodermal-neural cortex 1 (with BTB-like domain)	NRPB	NA	9305847, 9566959	Standard	NM_003633	NM_003633	NA	Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000510316.1:c.704A>T	5.37:g.73931388T>A	ENSP00000423804:p.Asp235Val	NA	O75464|Q9UPG9	37	CCDS58958.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863395	0.71949	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.66280	-0.2;-0.2;-0.2	6.04	6.04	0.98038	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.55990	1.75	0.80722	D	1	P	0.51351	0.944	P	0.52343	0.696	T	0.66548	-0.5896	10	0.33940	T	0.23	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	308	O14682	ENC1_HUMAN	V	308;235;308	ENSP00000306356:D308V;ENSP00000423804:D235V;ENSP00000446289:D308V	ENSP00000306356:D308V	D	-	2	0	ENC1	73967144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	GAC	ENC1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369004.1		-	ENST00000510316.1	Missense_Mutation	SNP	5 : 73931388 - 73931388 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	376	71
FAM71B	153745	broad.mit.edu	37	5	156589868	156589868	+	Missense_Mutation	SNP	C	C	T	rs138175460		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:156589868C>T	ENST00000302938.4	-	2	1503	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	470						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCCAGATGCGGACCGGTGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	194	197			NA	NA	5		NA											NA				156589868		2203	4300	6503	SO:0001583	missense				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613	153745	153745			28397	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_130899	NM_130899	NA	Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1408G>A	5.37:g.156589868C>T	ENSP00000305596:p.Ala470Thr	NA	Q1EDD9|Q8TC64|Q96LY8	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	9.219	1.032795	0.19590	.	.	ENSG00000170613	ENST00000302938	T	0.19806	2.12	4.64	-9.28	0.00656	.	1.737350	0.03907	N	0.281301	T	0.06735	0.0172	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22906	-1.0203	10	0.23302	T	0.38	0.0025	4.3119	0.10974	0.1338:0.5568:0.1468:0.1627	.	470	Q8TC56	FA71B_HUMAN	T	470	ENSP00000305596:A470T	ENSP00000305596:A470T	A	-	1	0	FAM71B	156522446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.937000	0.01547	-2.061000	0.00892	-1.268000	0.01426	GCA	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252570.2		-	ENST00000302938.4	Missense_Mutation	SNP	5 : 156589868 - 156589868 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	729	6
FANCM	57697	broad.mit.edu	37	14	45658329	45658329	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:45658329G>T	ENST00000542564.2	+	19	5104	c.5026G>T	c.(5026-5028)Gac>Tac	p.D1676Y	FANCM_ENST00000267430.5_Missense_Mutation_p.D1702Y			Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1702					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAAACAACAGGACCATTGTTT	0.398		NA						Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	114	114			NA	NA	14		NA											NA				45658329		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790	57697	57697		Fanconi anemia, complementation groups	23168	protein-coding gene	gene with protein product		609644	KIAA1596	KIAA1596	NA	10997877, 16116422	Standard	XM_048128	NM_020937	NA	Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000542564.2:c.5026G>T	14.37:g.45658329G>T	ENSP00000442493:p.Asp1676Tyr	NA	Q3YFH9|Q8N9X6|Q9HCH6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.627860|2.627860	0.46944|0.46944	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.76578|.	-1.03;-1.03;-1.03|.	4.83|4.83	2.99|2.99	0.34606|0.34606	.|.	1.959200|.	0.02691|.	N|.	0.110584|.	T|T	0.40372|0.40372	0.1114|0.1114	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D;D|.	0.56521|.	0.976;0.976|.	P;P|.	0.47744|.	0.556;0.556|.	T|T	0.25047|0.25047	-1.0143|-1.0143	10|5	0.54805|.	T|.	0.06|.	.|.	7.073|7.073	0.25189|0.25189	0.2863:0.0:0.7137:0.0|0.2863:0.0:0.7137:0.0	.|.	1676;1702|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	Y|V	1702;1676;1218|634	ENSP00000267430:D1702Y;ENSP00000442493:D1676Y;ENSP00000452033:D1218Y|.	ENSP00000267430:D1702Y|.	D|G	+|+	1|2	0|0	FANCM|FANCM	44728079|44728079	0.290000|0.290000	0.24343|0.24343	0.001000|0.001000	0.08648|0.08648	0.313000|0.313000	0.28021|0.28021	1.643000|1.643000	0.37217|0.37217	0.565000|0.565000	0.29255|0.29255	0.650000|0.650000	0.86243|0.86243	GAC|GGA	FANCM-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410475.1		+	ENST00000542564.2	Missense_Mutation	SNP	14 : 45658329 - 45658329 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	731	137
FGFR4	2264	broad.mit.edu	37	5	176520430	176520430	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:176520430C>T	ENST00000393648.2	+	10	1303	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L	FGFR4_ENST00000292408.4_Silent_p.S425S|FGFR4_ENST00000292410.3_Silent_p.S385S|FGFR4_ENST00000393637.1_Silent_p.S385S|FGFR4_ENST00000502906.1_Silent_p.S425S			P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	0					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CAGGCTCTTCCGGCAAGTCAA	0.622		NA								TSP Lung(9;0.080)			C	2	9e-04	NA	NA	2184	0.0035	0.9996	,	,	NA	3e-04	NA	NA	NA	0.0011	0.8824	EXOME	NA	NA	4e-04	SNP								NA				0													80	81	81			NA	NA	5		NA											NA				176520430		2203	4300	6503	SO:0001583	missense			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867	2264	2264		CD molecules, Immunoglobulin superfamily / I-set domain containing	3691	protein-coding gene	gene with protein product		134935			NA		Standard		XM_005265837	NA	Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000393648.2:c.1121C>T	5.37:g.176520430C>T	ENSP00000377259:p.Pro374Leu	NA	O43785|Q14309|Q71TW8|Q8TDA0	37		2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	C|C	10.16|10.16	1.274249|1.274249	0.23221|0.23221	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000393648|ENST00000511076	T|.	0.78481|.	-1.18|.	4.76|4.76	-9.52|-9.52	0.00578|0.00578	.|.	.|.	.|.	.|.	.|.	T|T	0.43743|0.43743	0.1261|0.1261	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.52480|0.52480	-0.8570|-0.8570	8|4	0.44086|.	T|.	0.13|.	.|.	5.7567|5.7567	0.18176|0.18176	0.1148:0.0898:0.4839:0.3115|0.1148:0.0898:0.4839:0.3115	.|.	374|.	B4DVP5|.	.|.	L|W	374|57	ENSP00000377259:P374L|.	ENSP00000377259:P374L|.	P|R	+|+	2|1	0|2	FGFR4|FGFR4	176453036|176453036	0.000000|0.000000	0.05858|0.05858	0.212000|0.212000	0.23672|0.23672	0.653000|0.653000	0.38743|0.38743	-7.064000|-7.064000	0.00045|0.00045	-3.096000|-3.096000	0.00246|0.00246	-0.315000|-0.315000	0.08773|0.08773	CCG|CGG	FGFR4-003	NOVEL	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000372593.1		+	ENST00000393648.2	Missense_Mutation	SNP	5 : 176520430 - 176520430 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	576	134
FOXD3	27022	broad.mit.edu	37	1	63789349	63789349	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:63789349G>A	ENST00000371116.2	+	1	620	c.620G>A	c.(619-621)gGc>gAc	p.G207D	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	207				GNPG -> ATRP (in Ref. 3; AAK13574).	axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CGCGAGCCGGGCAACCCGGGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(68;276 1750 11966 31252)							NA				0													86	100	95			NA	NA	1		NA											NA				63789349		2203	4300	6503	SO:0001583	missense			AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140	27022	27022		Forkhead boxes	3804	protein-coding gene	gene with protein product		611539			NA	8499623	Standard		NM_012183	NA	Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.620G>A	1.37:g.63789349G>A	ENSP00000360157:p.Gly207Asp	NA	Q9BYM2|Q9UDD1	37	CCDS624.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603105	0.66445	.	.	ENSG00000187140	ENST00000371116	D	0.95377	-3.69	2.6	2.6	0.31112	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.92541	0.7631	L	0.33245	0.995	0.80722	D	1	P	0.36616	0.561	P	0.55161	0.77	D	0.89842	0.4003	10	0.11485	T	0.65	.	13.9222	0.63940	0.0:0.0:1.0:0.0	.	207	Q9UJU5	FOXD3_HUMAN	D	207	ENSP00000360157:G207D	ENSP00000360157:G207D	G	+	2	0	FOXD3	63561937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.101000	0.50283	1.759000	0.51996	0.460000	0.39030	GGC	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025331.1		+	ENST00000371116.2	Missense_Mutation	SNP	1 : 63789349 - 63789349 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	804	6
GLI3	2737	broad.mit.edu	37	7	42005520	42005520	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:42005520G>A	ENST00000395925.3	-	15	3235	c.3151C>T	c.(3151-3153)Cgg>Tgg	p.R1051W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1051					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCCTCGGGCCGCGTGTAATTC	0.662		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	48	46			NA	NA	7		NA											NA				42005520		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571	2737	2737		Zinc fingers, C2H2-type	4319	protein-coding gene	gene with protein product	zinc finger protein GLI3, oncogene GLI3, DNA-binding protein	165240	Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3	GCPS, PHS	NA	2118997	Standard	NM_000168	NM_000168	NA	Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3151C>T	7.37:g.42005520G>A	ENSP00000379258:p.Arg1051Trp	NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693058	0.68271	.	.	ENSG00000106571	ENST00000395925	T	0.15834	2.39	5.47	5.47	0.80525	.	0.100400	0.64402	D	0.000001	T	0.31513	0.0799	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	T	0.01516	-1.1335	10	0.36615	T	0.2	.	17.5184	0.87780	0.0:0.0:1.0:0.0	.	1051	P10071	GLI3_HUMAN	W	1051	ENSP00000379258:R1051W	ENSP00000379258:R1051W	R	-	1	2	GLI3	41972045	1.000000	0.71417	0.926000	0.36857	0.689000	0.40095	7.435000	0.80391	2.561000	0.86390	0.563000	0.77884	CGG	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Missense_Mutation	SNP	7 : 42005520 - 42005520 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	338	78
GMPPA	29926	broad.mit.edu	37	2	220366590	220366590	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:220366590C>T	ENST00000358215.3	+	5	629	c.260C>T	c.(259-261)gCc>gTc	p.A87V	GMPPA_ENST00000373917.3_Missense_Mutation_p.A87V|GMPPA_ENST00000373908.1_Missense_Mutation_p.A87V|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.A87V|GMPPA_ENST00000313597.5_Missense_Mutation_p.A87V	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	87					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CAGGAATTTGCCCCCCTAGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	2		NA											NA				220366590		2203	4300	6503	SO:0001583	missense			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591	29926	29926			22923	protein-coding gene	gene with protein product		615495			NA		Standard	NM_013335	NM_205847	NA	Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.260C>T	2.37:g.220366590C>T	ENSP00000350949:p.Ala87Val	NA	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	37	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284479	0.59867	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142	D;D;D;D;T;T;D	0.93906	-3.31;-3.31;-3.31;-3.31;-0.7;-0.7;-3.31	4.68	3.8	0.43715	Nucleotidyl transferase (1);	0.270854	0.34338	N	0.004044	D	0.88548	0.6466	L	0.33093	0.98	0.40974	D	0.984729	B;P	0.37276	0.001;0.589	B;B	0.35727	0.008;0.209	D	0.87535	0.2455	10	0.54805	T	0.06	-29.327	12.5741	0.56354	0.0:0.9176:0.0:0.0824	.	87;87	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	V	87;87;87;87;87;52;87	ENSP00000315925:A87V;ENSP00000363027:A87V;ENSP00000350949:A87V;ENSP00000363016:A87V;ENSP00000392465:A87V;ENSP00000411060:A52V;ENSP00000340760:A87V	ENSP00000315925:A87V	A	+	2	0	GMPPA	220074834	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	5.950000	0.70265	0.967000	0.38186	0.561000	0.74099	GCC	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130230.1		+	ENST00000358215.3	Missense_Mutation	SNP	2 : 220366590 - 220366590 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	381	6
GNS	2799	broad.mit.edu	37	12	65113959	65113959	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:65113959A>G	ENST00000542058.1	-	12	1517	c.1363T>C	c.(1363-1365)Ttt>Ctt	p.F455L	GNS_ENST00000418919.2_Missense_Mutation_p.F419L|GNS_ENST00000543646.1_Missense_Mutation_p.F507L|GNS_ENST00000258145.3_Missense_Mutation_p.F475L			P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	475						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACTTCTACAAACACCTAGAGG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	173	172			NA	NA	12		NA											NA				65113959		2203	4300	6503	SO:0001583	missense				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	2799	2799	3.1.6.14		4422	protein-coding gene	gene with protein product	Sanfilippo disease IIID, N-acetylglucosamine-6-sulfatase	607664			NA		Standard		NM_002076	NA	Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000542058.1:c.1363T>C	12.37:g.65113959A>G	ENSP00000444819:p.Phe455Leu	NA	Q53F05	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.208974|5.208974	0.95069|0.95069	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825|ENST00000540196	T;T;T;T|T	0.64991|0.19105	1.84;-0.13;-0.13;-0.13|2.17	5.39|5.39	5.39|5.39	0.77823|0.77823	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48059|0.48059	0.1479|0.1479	M|M	0.85777|0.85777	2.775|2.775	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.995;1.0;0.974;1.0|.	D;D;D;D|.	0.91635|.	0.969;0.999;0.949;0.998|.	T|T	0.53344|0.53344	-0.8452|-0.8452	9|6	.|.	.|.	.|.	-20.6884|-20.6884	15.7218|15.7218	0.77718|0.77718	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	455;507;475;419|.	B4DYH8;F6S8M0;P15586;Q7Z3X3|.	.;.;GNS_HUMAN;.|.	L|A	419;475;507;455;392|260	ENSP00000413130:F419L;ENSP00000258145:F475L;ENSP00000438497:F507L;ENSP00000444819:F455L|ENSP00000437782:V260A	.|.	F|V	-|-	1|2	0|0	GNS|GNS	63400226|63400226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	9.204000|9.204000	0.95041|0.95041	2.180000|2.180000	0.69256|0.69256	0.459000|0.459000	0.35465|0.35465	TTT|GTT	GNS-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401208.1		-	ENST00000542058.1	Missense_Mutation	SNP	12 : 65113959 - 65113959 G PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	846	180
GOLGA3	2802	broad.mit.edu	37	12	133381515	133381515	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:133381515G>A	ENST00000450791.2	-	6	1567	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R462W|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W			Q08378	GOGA3_HUMAN	golgin A3	462					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAATCCTGCCGCTGCTGGCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	44	44			NA	NA	12		NA											NA				133381515		2203	4291	6494	SO:0001583	missense			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615	2802	2802			4426	protein-coding gene	gene with protein product	SY2/SY10 protein, Golgi complex-associated protein of 170 kD	602581	golgi autoantigen, golgin subfamily a, 3		NA	8315394, 15829563	Standard	NM_005895	NM_001172557	NA	Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1384C>T	12.37:g.133381515G>A	ENSP00000410378:p.Arg462Trp	NA	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240122	0.79912	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.45	3.12	0.35913	.	0.357463	0.36167	N	0.002757	T	0.74099	0.3672	N	0.14661	0.345	0.80722	D	1	D;D;D	0.71674	0.995;0.995;0.998	P;B;P	0.50708	0.648;0.431;0.62	T	0.73503	-0.3962	10	0.87932	D	0	.	7.5344	0.27702	0.0:0.0804:0.1589:0.7607	.	462;462;462	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	W	462	ENSP00000204726:R462W;ENSP00000410378:R462W;ENSP00000409303:R462W;ENSP00000442143:R462W;ENSP00000442603:R462W	ENSP00000204726:R462W	R	-	1	2	GOLGA3	131891588	1.000000	0.71417	0.973000	0.42090	0.927000	0.56198	2.687000	0.46976	0.376000	0.24707	0.561000	0.74099	CGG	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397569.2		-	ENST00000450791.2	Missense_Mutation	SNP	12 : 133381515 - 133381515 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	403	6
GPR176	11245	broad.mit.edu	37	15	40093625	40093625	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:40093625G>A	ENST00000299092.3	-	4	1451	c.1253C>T	c.(1252-1254)gCg>gTg	p.A418V	GPR176_ENST00000543580.1_Missense_Mutation_p.A374V|GPR176_ENST00000561100.1_Missense_Mutation_p.A419V	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	419					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGCAGAGGGCGCAAACTGTGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	137	138			NA	NA	15		NA											NA				40093625		2203	4300	6503	SO:0001583	missense			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073	11245	11245		GPCR / Class A : Orphans	32370	protein-coding gene	gene with protein product		612183			NA	7893747	Standard	NM_007223	NM_007223	NA	Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000299092.3:c.1253C>T	15.37:g.40093625G>A	ENSP00000299092:p.Ala418Val	NA	Q6NXF6	37		.	.	.	.	.	.	.	.	.	.	G	0.833	-0.744502	0.03065	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.79141	-1.24	5.95	-1.57	0.08506	.	1.400100	0.04030	N	0.301258	T	0.64136	0.2571	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43589	-0.9382	10	0.26408	T	0.33	-0.0271	8.3264	0.32160	0.3111:0.1057:0.5832:0.0	.	419	Q14439	GP176_HUMAN	V	419;374	ENSP00000439361:A374V	ENSP00000299092:A419V	A	-	2	0	GPR176	37880917	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.381000	0.07417	-0.876000	0.04017	-2.048000	0.00412	GCG	GPR176-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000418451.1		-	ENST00000299092.3	Missense_Mutation	SNP	15 : 40093625 - 40093625 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	824	6
HAS3	3038	broad.mit.edu	37	16	69148721	69148721	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:69148721G>A	ENST00000306560.1	+	4	1370	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R405H	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	405					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.R405H(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCGGGGCCGCATCTGGAAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											117	109	112			NA	NA	16		NA											NA				69148721		2198	4300	6498	SO:0001583	missense			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	3038	3038	2.4.1.212	Glycosyltransferase family 2 domain containing	4820	protein-coding gene	gene with protein product		602428			NA	9169154, 9083017	Standard	NM_138612	NM_005329	NA	Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1214G>A	16.37:g.69148721G>A	ENSP00000304440:p.Arg405His	NA	A8K5T5|Q9NYP0	37	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700380	0.88924	.	.	ENSG00000103044	ENST00000306560	T	0.59364	0.27	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	L	0.59436	1.845	0.58432	D	0.999998	D	0.63046	0.992	P	0.54312	0.748	T	0.65899	-0.6056	10	0.44086	T	0.13	-8.402	20.2544	0.98414	0.0:0.0:1.0:0.0	.	405	O00219	HAS3_HUMAN	H	405	ENSP00000304440:R405H	ENSP00000304440:R405H	R	+	2	0	HAS3	67706222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.749000	0.74883	2.885000	0.99019	0.655000	0.94253	CGC	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268898.2		+	ENST00000306560.1	Missense_Mutation	SNP	16 : 69148721 - 69148721 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	619	6
HPX	3263	broad.mit.edu	37	11	6452915	6452915	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:6452915G>A	ENST00000265983.3	-	9	1185	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GATAAAGGCCGCATCCACAGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	78	78			NA	NA	11		NA											NA				6452915		2201	4296	6497	SO:0001583	missense			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169	3263	3263			5171	protein-coding gene	gene with protein product		142290			NA	2989777, 2842511	Standard	NM_000613	NM_000613	NA	Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1085C>T	11.37:g.6452915G>A	ENSP00000265983:p.Ala362Val	NA	B2R957	37	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336128	0.81801	.	.	ENSG00000110169	ENST00000265983	T	0.20200	2.09	5.62	5.62	0.85841	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	P	0.59221	0.854	T	0.54463	-0.8290	10	0.87932	D	0	-12.4094	17.1339	0.86734	0.0:0.0:1.0:0.0	.	362	P02790	HEMO_HUMAN	V	362	ENSP00000265983:A362V	ENSP00000265983:A362V	A	-	2	0	HPX	6409491	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	6.271000	0.72569	2.656000	0.90262	0.561000	0.74099	GCG	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257256.1		-	ENST00000265983.3	Missense_Mutation	SNP	11 : 6452915 - 6452915 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	523	5
IL18RAP	8807	broad.mit.edu	37	2	103068507	103068507	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:103068507C>T	ENST00000409369.1	+	10	1553	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	IL18RAP_ENST00000264260.2_Missense_Mutation_p.R556C			O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	556	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGCCAAAATGCGCTACCACAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	149	145			NA	NA	2		NA											NA				103068507		2203	4300	6503	SO:0001583	missense			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607	8807	8807		Interleukins and interleukin receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	5989	protein-coding gene	gene with protein product		604509			NA	9792649	Standard	NM_003853	XM_005264034	NA	Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000409369.1:c.1240C>T	2.37:g.103068507C>T	ENSP00000387201:p.Arg414Cys	NA	B2RPJ3|Q3KPE7|Q53TT4|Q53TU5	37		.	.	.	.	.	.	.	.	.	.	C	11.02	1.516146	0.27123	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.10668	2.85;2.85	6.02	6.02	0.97574	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.425883	0.25004	N	0.033896	T	0.19644	0.0472	M	0.87097	2.86	0.42033	D	0.991036	B	0.34255	0.445	B	0.30029	0.11	T	0.01416	-1.1360	10	0.56958	D	0.05	.	14.657	0.68841	0.0:0.9312:0.0:0.0688	.	556	O95256	I18RA_HUMAN	C	556;414	ENSP00000264260:R556C;ENSP00000387201:R414C	ENSP00000264260:R556C	R	+	1	0	IL18RAP	102434939	0.000000	0.05858	0.506000	0.27664	0.084000	0.17831	0.264000	0.18497	2.857000	0.98124	0.650000	0.86243	CGC	IL18RAP-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000329495.1		+	ENST00000409369.1	Missense_Mutation	SNP	2 : 103068507 - 103068507 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	759	8
IL3RA	3563	broad.mit.edu	37	X	1497572	1497572	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:1497572G>A	ENST00000331035.4	+	10	1244	c.895G>A	c.(895-897)Gca>Aca	p.A299T	IL3RA_ENST00000381469.2_Missense_Mutation_p.A221T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	299						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGAGGAGGGCGCAAACACACG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	90	98			NA	NA	X		NA											NA				1497572		2201	4295	6496	SO:0001583	missense			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291	3563	3563		Pseudoautosomal regions / PAR1, Interleukins and interleukin receptors, CD molecules	6012	protein-coding gene	gene with protein product		308385, 430000			NA	1833064	Standard		NM_002183	NA	Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.895G>A	X.37:g.1497572G>A	ENSP00000327890:p.Ala299Thr	NA	A8K3F3|B9VI81|Q5HYQ7	37	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.340363	0.01277	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;D	0.95918	1.53;-3.85	0.798	-1.59	0.08453	.	113.382000	0.00775	N	0.001236	D	0.86834	0.6028	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.003	B;B	0.09377	0.004;0.0	T	0.80405	-0.1396	9	0.14252	T	0.57	.	.	.	.	.	220;299	P26951-2;P26951	.;IL3RA_HUMAN	T	299;221	ENSP00000327890:A299T;ENSP00000370878:A221T	ENSP00000327890:A299T	A	+	1	0	IL3RA	1457572	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.867000	0.00346	-0.741000	0.04797	-0.510000	0.04470	GCA	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055600.3		+	ENST00000331035.4	Missense_Mutation	SNP	X : 1497572 - 1497572 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	188	4
IP6K3	117283	broad.mit.edu	37	6	33690692	33690692	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:33690692G>A	ENST00000293756.4	-	6	1364	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	IP6K3_ENST00000451316.1_Silent_p.H346H	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	346					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GGGGAGCCTCGTGAGGATGCG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4406		0,0,2203	80	80	80		1038,1038	3.1	0	6		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IP6K3	NM_001142883.1,NM_054111.4	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	346/411,346/411	33690692	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896	117283	117283			17269	protein-coding gene	gene with protein product		606993	inositol hexaphosphate kinase 3	IHPK3	NA	11502751	Standard	NM_054111	NM_054111	NA	Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.1038C>T	6.37:g.33690692G>A		NA	Q96MQ9	37	CCDS34435.1																																																																																			IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040203.1		-	ENST00000293756.4	Silent	SNP	6 : 33690692 - 33690692 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	379	5
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				7	Substitution - Missense(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)											112	104	107			NA	NA	13		NA											NA				41705440		2203	4300	6503	SO:0001583	missense			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572	89890	89890		BTB/POZ domain containing	25340	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152903	NM_152903	NA	Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	NA	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044657.1		-	ENST00000379485.1	Missense_Mutation	SNP	13 : 41705440 - 41705440 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	651	6
KCNA7	3743	broad.mit.edu	37	19	49573549	49573549	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:49573549G>A	ENST00000221444.1	-	2	1497	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	381						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CAGCACGCCCGCAATGGCACA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(74;686 1235 3793 23366 48562)							NA				0													78	67	70			NA	NA	19		NA											NA				49573549		2203	4300	6503	SO:0001583	missense			AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848	3743	3743		Potassium channels, Voltage-gated ion channels / Potassium channels	6226	protein-coding gene	gene with protein product		176268			NA	16382104	Standard	NM_031886	NM_031886	NA	Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1142C>T	19.37:g.49573549G>A	ENSP00000221444:p.Ala381Val	NA	A1KYX7|Q9BYS4	37	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862088	0.91511	.	.	ENSG00000104848	ENST00000221444	D	0.98313	-4.86	4.65	4.65	0.58169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	L	0.48260	1.515	0.80722	D	1	D	0.60575	0.988	P	0.47251	0.542	D	0.97729	1.0201	10	0.72032	D	0.01	.	16.6617	0.85242	0.0:0.0:1.0:0.0	.	381	Q96RP8	KCNA7_HUMAN	V	381	ENSP00000221444:A381V	ENSP00000221444:A381V	A	-	2	0	KCNA7	54265361	1.000000	0.71417	0.982000	0.44146	0.872000	0.50106	9.860000	0.99555	2.321000	0.78463	0.491000	0.48974	GCG	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466263.1		-	ENST00000221444.1	Missense_Mutation	SNP	19 : 49573549 - 49573549 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	197	4
KCNQ1	3784	broad.mit.edu	37	11	2549217	2549217	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:2549217C>T	ENST00000155840.5	+	2	554	c.446C>T	c.(445-447)gCc>gTc	p.A149V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A22V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	149					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GAGCAGTATGCCGCCCTGGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													226	161	183			NA	NA	11		NA											NA				2549217		2202	4299	6501	SO:0001583	missense			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918	3784	3784		Potassium channels, Voltage-gated ion channels / Potassium channels	6294	protein-coding gene	gene with protein product	Jervell and Lange-Nielsen syndrome 1	607542		LQT, KCNA9	NA	8528244, 16382104	Standard	NM_000218	NM_181798	NA	Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.446C>T	11.37:g.2549217C>T	ENSP00000155840:p.Ala149Val	NA	O00347|O60607|O94787|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	37	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555341	0.45487	.	.	ENSG00000053918	ENST00000496887;ENST00000155840;ENST00000335475	D;D;D	0.97480	-4.4;-4.4;-4.4	4.46	0.133	0.14766	.	0.507512	0.19967	N	0.102064	D	0.90920	0.7146	N	0.17082	0.46	0.28911	N	0.892704	B;B	0.02656	0.0;0.0	B;B	0.12156	0.001;0.007	D	0.83863	0.0269	10	0.41790	T	0.15	-21.1294	7.0745	0.25197	0.0:0.5348:0.0:0.4652	.	22;149	Q14D14;P51787	.;KCNQ1_HUMAN	V	62;149;22	ENSP00000434560:A62V;ENSP00000155840:A149V;ENSP00000334497:A22V	ENSP00000155840:A149V	A	+	2	0	KCNQ1	2505793	0.258000	0.24033	0.523000	0.27875	0.964000	0.63967	0.646000	0.24797	0.070000	0.16634	0.561000	0.74099	GCC	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027382.2		+	ENST00000155840.5	Missense_Mutation	SNP	11 : 2549217 - 2549217 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	552	5
KIAA0556	23247	broad.mit.edu	37	16	27640032	27640032	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:27640032A>G	ENST00000261588.4	+	4	210	c.191A>G	c.(190-192)cAc>cGc	p.H64R		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	64										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGCTGGAGCACTTGGAGCAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	138	142			NA	NA	16		NA											NA				27640032		2197	4300	6497	SO:0001583	missense			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578	23247	23247			29068	protein-coding gene	gene with protein product					NA	9628581	Standard	NM_015202	NM_015202	NA	Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.191A>G	16.37:g.27640032A>G	ENSP00000261588:p.His64Arg	NA	A7E2C2	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000654	0.35320	.	.	ENSG00000047578	ENST00000261588	T	0.39997	1.05	5.21	5.21	0.72293	.	0.237136	0.35349	N	0.003262	T	0.51092	0.1654	L	0.48642	1.525	0.40163	D	0.977085	D	0.61697	0.99	P	0.61592	0.891	T	0.45366	-0.9266	10	0.22109	T	0.4	.	12.6144	0.56567	1.0:0.0:0.0:0.0	.	64	O60303	K0556_HUMAN	R	64	ENSP00000261588:H64R	ENSP00000261588:H64R	H	+	2	0	KIAA0556	27547533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.096000	0.50243	1.973000	0.57446	0.454000	0.30748	CAC	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433724.1		+	ENST00000261588.4	Missense_Mutation	SNP	16 : 27640032 - 27640032 G PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	914	85
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	129	22
KRTAP3-1	83896	broad.mit.edu	37	17	39165249	39165249	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:39165249G>A	ENST00000391588.1	-	1	117	c.78C>T	c.(76-78)tgC>tgT	p.C26C	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	26	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CTCCACAGCGGCAGCTTTTAT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	17		NA											NA				39165249		2203	4296	6499	SO:0001819	synonymous_variant			AJ406931	CCDS32645.1	17q21.2	2013-06-25			ENSG00000212901	ENSG00000212901	83896	83896		Keratin associated proteins	16778	protein-coding gene	gene with protein product					NA	11279113	Standard		NM_031958	NA	Approved	KAP3.1	uc002hvt.1	Q9BYR8	OTTHUMG00000133595	ENST00000391588.1:c.78C>T	17.37:g.39165249G>A		NA	Q14DM4	37	CCDS32645.1																																																																																			KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257699.1		-	ENST00000391588.1	Silent	SNP	17 : 39165249 - 39165249 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	538	5
LAMB2	3913	broad.mit.edu	37	3	49162783	49162783	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:49162783G>A	ENST00000418109.1	-	20	2787	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	LAMB2_ENST00000305544.4_Missense_Mutation_p.R875W|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	875	Laminin EGF-like 7.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACACATGGCCGGCAGCTAGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	3		NA											NA				49162783		2203	4300	6503	SO:0001583	missense				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037	3913	3913		Laminins	6487	protein-coding gene	gene with protein product	laminin S	150325		LAMS	NA	2922051, 10393422	Standard	NM_002292	NM_002292	NA	Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2623C>T	3.37:g.49162783G>A	ENSP00000388325:p.Arg875Trp	NA	Q16321	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560125	0.65538	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.55588	0.51;0.51	6.08	6.08	0.98989	EGF-like, laminin (2);	0.121540	0.56097	D	0.000036	T	0.66446	0.2790	M	0.91140	3.18	0.80722	D	1	B	0.22146	0.065	B	0.19148	0.024	T	0.67280	-0.5710	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	875	P55268	LAMB2_HUMAN	W	875	ENSP00000388325:R875W;ENSP00000307156:R875W	ENSP00000307156:R875W	R	-	1	2	LAMB2	49137787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.377000	0.59562	2.894000	0.99253	0.655000	0.94253	CGG	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345939.1		-	ENST00000418109.1	Missense_Mutation	SNP	3 : 49162783 - 49162783 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	643	5
LHX2	9355	broad.mit.edu	37	9	126776246	126776246	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:126776246C>T	ENST00000373615.4	+	2	866	c.127C>T	c.(127-129)Ccg>Tcg	p.P43S		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	43						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCAGACCATGCCGTCCATCAG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	32	31			NA	NA	9		NA											NA				126776246		2201	4298	6499	SO:0001583	missense			U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689	9355	9355		Homeoboxes / LIM class	6594	protein-coding gene	gene with protein product		603759			NA	8649822, 10051612	Standard		NM_004789	NA	Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.127C>T	9.37:g.126776246C>T	ENSP00000362717:p.Pro43Ser	NA	O95860|Q52M57|Q8N1Z3	37	CCDS6853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.325460|5.325460	0.95708|0.95708	.|.	.|.	ENSG00000106689|ENSG00000106689	ENST00000446480|ENST00000373615	.|D	.|0.83914	.|-1.78	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.116041	.|0.64402	.|D	.|0.000015	D|D	0.84160|0.84160	0.5411|0.5411	M|M	0.73598|0.73598	2.24|2.24	0.54753|0.54753	D|D	0.999984|0.999984	.|B;B	.|0.24721	.|0.11;0.029	.|B;B	.|0.25884	.|0.064;0.016	T|T	0.80181|0.80181	-0.1489|-0.1489	5|10	.|0.42905	.|T	.|0.14	.|.	18.8766|18.8766	0.92338|0.92338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|43;43	.|B3KNJ5;P50458	.|.;LHX2_HUMAN	V|S	40|43	.|ENSP00000362717:P43S	.|ENSP00000362717:P43S	A|P	+|+	2|1	0|0	LHX2|LHX2	125816067|125816067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.803000|7.803000	0.85983|0.85983	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CCG	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054010.2		+	ENST00000373615.4	Missense_Mutation	SNP	9 : 126776246 - 126776246 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	267	5
MAGEC3	139081	broad.mit.edu	37	X	140985098	140985098	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:140985098C>T	ENST00000298296.1	+	7	1554	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	MAGEC3_ENST00000443323.2_Silent_p.P140P|MAGEC3_ENST00000409007.1_Silent_p.P220P|MAGEC3_ENST00000536088.1_Silent_p.P220P|MAGEC3_ENST00000544766.1_Silent_p.P220P	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	518	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATATGGACCCCGACAACCACT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	151	153			NA	NA	X		NA											NA				140985098		2203	4300	6503	SO:0001819	synonymous_variant			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509	139081	139081			23798	protein-coding gene	gene with protein product	cancer/testis antigen family 7, member 2	300469			NA	10861452	Standard	NM_138702	NM_138702	NA	Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1554C>T	X.37:g.140985098C>T		NA	Q5JZ43|Q9BZ80	37	CCDS14676.1																																																																																			MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058606.1		+	ENST00000298296.1	Silent	SNP	X : 140985098 - 140985098 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	510	8
MC3R	4159	broad.mit.edu	37	20	54824819	54824819	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:54824819G>A	ENST00000243911.2	+	1	1032	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGGAATTGCGCAACACCTTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	160	163			NA	NA	20		NA											NA				54824819		2203	4300	6503	SO:0001583	missense				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089	4159	4159		GPCR / Class A : Melanocortin receptors	6931	protein-coding gene	gene with protein product		155540			NA	8463333	Standard		NM_019888	NA	Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.920G>A	20.37:g.54824819G>A	ENSP00000243911:p.Arg307His	NA	Q4KN27|Q9H517	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520625	0.64747	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000014	D	0.82917	0.5141	H	0.97440	4.005	0.51767	D	0.99993	D	0.89917	1.0	D	0.83275	0.996	D	0.89536	0.3789	10	0.87932	D	0	.	18.1096	0.89530	0.0:0.0:1.0:0.0	.	344	P41968	MC3R_HUMAN	H	307	ENSP00000243911:R307H	ENSP00000243911:R307H	R	+	2	0	MC3R	54258226	1.000000	0.71417	0.990000	0.47175	0.182000	0.23217	9.731000	0.98807	2.362000	0.80069	0.555000	0.69702	CGC	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079786.2		+	ENST00000243911.2	Missense_Mutation	SNP	20 : 54824819 - 54824819 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	809	7
MMP26	56547	broad.mit.edu	37	11	5009493	5009493	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:5009493G>A	ENST00000380390.1	+	2	268	c.52G>A	c.(52-54)Gtt>Att	p.V18I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000300762.1_Missense_Mutation_p.V18I			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	18					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGTTTCGCCGTTCCAGTGCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													271	216	235			NA	NA	11		NA											NA				5009493		2201	4298	6499	SO:0001583	missense			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	56547	56547	3.4.24.1		14249	protein-coding gene	gene with protein product	matrilysin 2	605470	matrix metalloproteinase 26		NA	10801841, 10824119	Standard	NM_021801	NM_021801	NA	Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.52G>A	11.37:g.5009493G>A	ENSP00000369753:p.Val18Ile	NA	Q3MJ78|Q9GZS2|Q9NR87	37	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	g	3.577	-0.086437	0.07097	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.26067	1.76;1.76	3.3	-6.6	0.01824	.	0.975329	0.08322	N	0.963623	T	0.06872	0.0175	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	10	0.35671	T	0.21	0.1393	2.2024	0.03927	0.2392:0.4375:0.1215:0.2018	.	18	Q9NRE1	MMP26_HUMAN	I	18	ENSP00000369753:V18I;ENSP00000300762:V18I	ENSP00000300762:V18I	V	+	1	0	MMP26	4966069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.164000	0.01275	-2.497000	0.00513	-4.594000	0.00004	GTT	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142058.3		+	ENST00000380390.1	Missense_Mutation	SNP	11 : 5009493 - 5009493 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	683	7
MSH3	4437	broad.mit.edu	37	5	79974874	79974874	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:79974874G>A	ENST00000265081.6	+	8	1382	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	434					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCTTGTCCGAGCAAACAGAGG	0.478		NA						Mismatch excision repair (MMR)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(88;1010 1399 13793 26548 36275)							NA				0													137	134	135			NA	NA	5		NA											NA				79974874		2203	4300	6503	SO:0001819	synonymous_variant			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318	4437	4437			7326	protein-coding gene	gene with protein product	Divergent upstream protein, Mismatch repair protein 1	600887	mutS (E. coli) homolog 3, mutS homolog 3 (E. coli)		NA		Standard	NM_002439	NM_002439	NA	Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1302G>A	5.37:g.79974874G>A		NA	A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	37	CCDS34195.1																																																																																			MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369471.1		+	ENST00000265081.6	Silent	SNP	5 : 79974874 - 79974874 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	870	7
MYO1D	4642	broad.mit.edu	37	17	31082528	31082528	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:31082528G>A	ENST00000394649.4	-	13	1728	c.1185C>T	c.(1183-1185)gcC>gcT	p.A395A	MYO1D_ENST00000579584.1_Silent_p.A483A|MYO1D_ENST00000318217.5_Silent_p.A483A|MYO1D_ENST00000584232.1_5'UTR			O94832	MYO1D_HUMAN	myosin ID	483	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TGGAAAAATGGGCGTGTTTGC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	111	115			NA	NA	17		NA											NA				31082528		2203	4300	6503	SO:0001819	synonymous_variant			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658	4642	4642		Myosins / Myosin superfamily : Class I	7598	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 108	606539			NA	8884266	Standard		NM_015194	NA	Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000394649.4:c.1185C>T	17.37:g.31082528G>A		NA	A6H8V3|Q8NHP9	37																																																																																				MYO1D-004	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447459.2		-	ENST00000394649.4	Silent	SNP	17 : 31082528 - 31082528 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	397	15
MYT1	4661	broad.mit.edu	37	20	62843476	62843476	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:62843476G>A	ENST00000328439.1	+	9	1866	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	MYT1_ENST00000536311.1_Missense_Mutation_p.R501H|MYT1_ENST00000360149.4_Missense_Mutation_p.R203H	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	501					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R501H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AACAGCAACCGCAACACGCAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				1	Substitution - Missense(1)	large_intestine(1)											118	111	113			NA	NA	20		NA											NA				62843476		2203	4300	6503	SO:0001583	missense			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1502G>A	20.37:g.62843476G>A	ENSP00000327465:p.Arg501His	NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717521	0.68844	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.68331	0.55;-0.32;1.55	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.80525	-0.1344	10	0.72032	D	0.01	-24.8969	17.4965	0.87719	0.0:0.0:1.0:0.0	.	501;501;203	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	H	203;501;501	ENSP00000353269:R203H;ENSP00000327465:R501H;ENSP00000442412:R501H	ENSP00000327465:R501H	R	+	2	0	MYT1	62313920	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.725000	0.98778	2.187000	0.69744	0.557000	0.71058	CGC	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Missense_Mutation	SNP	20 : 62843476 - 62843476 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	715	6
NCKAP1L	3071	broad.mit.edu	37	12	54917197	54917197	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:54917197C>T	ENST00000293373.6	+	19	1977	c.1898C>T	c.(1897-1899)gCc>gTc	p.A633V	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A583V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	633					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAGCACTGTGCCACTACAATC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	173	170			NA	NA	12		NA											NA				54917197		2203	4300	6503	SO:0001583	missense			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338	3071	3071			4862	protein-coding gene	gene with protein product		141180	hematopoietic protein 1	HEM1	NA	1932118	Standard	NM_005337	NM_005337	NA	Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1898C>T	12.37:g.54917197C>T	ENSP00000293373:p.Ala633Val	NA	Q52LW0	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701576	0.88924	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.39787	1.06;1.06	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.57814	-0.7746	10	0.36615	T	0.2	-15.2108	16.9443	0.86226	0.0:1.0:0.0:0.0	.	633	P55160	NCKPL_HUMAN	V	633;583	ENSP00000293373:A633V;ENSP00000445596:A583V	ENSP00000293373:A633V	A	+	2	0	NCKAP1L	53203464	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.491000	0.81471	2.673000	0.90976	0.655000	0.94253	GCC	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406195.1		+	ENST00000293373.6	Missense_Mutation	SNP	12 : 54917197 - 54917197 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	875	6
NOS1	4842	broad.mit.edu	37	12	117658040	117658040	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:117658040G>A	ENST00000338101.4	-	27	4116	c.4112C>T	c.(4111-4113)gCg>gTg	p.A1371V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.A1337V			P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1337					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CACAGACTCCGCCAGCTGCTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(162;1748 2599 51982 52956)							NA				0													107	115	112			NA	NA	12		NA											NA				117658040		2201	4300	6501	SO:0001583	missense				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	4842	4842	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS	NA	1385308, 7682706	Standard		NM_001204213	NA	Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4112C>T	12.37:g.117658040G>A	ENSP00000337459:p.Ala1371Val	NA		37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361076	0.82353	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.79554	-1.28;-1.28	4.44	4.44	0.53790	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.061459	0.64402	D	0.000004	D	0.89539	0.6744	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	P	0.56648	0.803	D	0.91880	0.5515	10	0.59425	D	0.04	-23.5503	17.268	0.87093	0.0:0.0:1.0:0.0	.	1337	P29475	NOS1_HUMAN	V	1232;1337;1371	ENSP00000320758:A1337V;ENSP00000337459:A1371V	ENSP00000320758:A1337V	A	-	2	0	NOS1	116142423	1.000000	0.71417	0.933000	0.37362	0.958000	0.62258	7.674000	0.83992	2.310000	0.77875	0.561000	0.74099	GCG	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268053.1		-	ENST00000338101.4	Missense_Mutation	SNP	12 : 117658040 - 117658040 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	908	6
OR2T12	127064	broad.mit.edu	37	1	248458256	248458256	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:248458256A>G	ENST00000317996.1	-	1	624	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATGAGGGAAAAGGGGACCAGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											49	43	45			NA	NA	1		NA											NA				248458256		2202	4282	6484	SO:0001583	missense			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201	127064	127064		GPCR / Class A : Olfactory receptors	19592	protein-coding gene	gene with protein product					NA		Standard	NM_001004692	NM_001004692	NA	Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.625T>C	1.37:g.248458256A>G	ENSP00000324583:p.Phe209Leu	NA		37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	0.425	-0.906199	0.02453	.	.	ENSG00000177201	ENST00000317996	T	0.32988	1.43	1.55	-0.261	0.12963	GPCR, rhodopsin-like superfamily (1);	0.858771	0.09453	N	0.800195	T	0.14960	0.0361	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29397	-1.0013	10	0.25751	T	0.34	.	6.739	0.23424	0.772:0.0:0.0:0.228	.	209	Q8NG77	O2T12_HUMAN	L	209	ENSP00000324583:F209L	ENSP00000324583:F209L	F	-	1	0	OR2T12	246524879	0.000000	0.05858	0.023000	0.16930	0.191000	0.23601	-1.313000	0.02718	0.540000	0.28808	0.147000	0.16070	TTT	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097353.1		-	ENST00000317996.1	Missense_Mutation	SNP	1 : 248458256 - 248458256 G PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	440	5
OR51A7	119687	broad.mit.edu	37	11	4929119	4929119	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:4929119C>T	ENST00000359350.4	+	1	520	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGAATCTTCTTTCTCACTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	124	128			NA	NA	11		NA											NA				4929119		2201	4298	6499	SO:0001583	missense			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895	119687	119687		GPCR / Class A : Olfactory receptors	15188	protein-coding gene	gene with protein product					NA		Standard	NM_001004749	NM_001004749	NA	Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.520C>T	11.37:g.4929119C>T	ENSP00000352305:p.Leu174Phe	NA	Q6IFH8	37	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234429	0.58886	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.38240	1.15	5.02	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000741	T	0.63010	0.2475	M	0.90922	3.16	0.21604	N	0.999623	D	0.89917	1.0	D	0.97110	1.0	T	0.57900	-0.7731	10	0.87932	D	0	.	7.8969	0.29712	0.1585:0.757:0.0:0.0845	.	174	Q8NH64	O51A7_HUMAN	F	174;174;163	ENSP00000352305:L174F	ENSP00000352305:L174F	L	+	1	0	OR51A7	4885695	0.004000	0.15560	0.995000	0.50966	0.955000	0.61496	0.280000	0.18790	2.596000	0.87737	0.655000	0.94253	CTT	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142175.1		+	ENST00000359350.4	Missense_Mutation	SNP	11 : 4929119 - 4929119 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	388	5
OXNAD1	92106	broad.mit.edu	37	3	16312479	16312479	+	Missense_Mutation	SNP	T	T	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:16312479T>G	ENST00000285083.5	+	3	485	c.20T>G	c.(19-21)aTg>aGg	p.M7R	OXNAD1_ENST00000435829.2_Missense_Mutation_p.M25R|OXNAD1_ENST00000606098.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000544043.1_Missense_Mutation_p.M25R|OXNAD1_ENST00000605932.1_Missense_Mutation_p.M7R	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	7							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GCTGCTGTTATGATTCCTGGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	188	193			NA	NA	3		NA											NA				16312479		2203	4300	6503	SO:0001583	missense			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814	92106	92106			25128	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138381	NM_138381	NA	Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.20T>G	3.37:g.16312479T>G	ENSP00000285083:p.Met7Arg	NA	Q2HYC7|Q59FA4	37	CCDS2630.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.366861	0.24771	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.22134	2.29;1.97;2.25	5.07	2.62	0.31277	.	1.342610	0.04581	N	0.394909	T	0.21590	0.0520	L	0.36672	1.1	0.09310	N	1	B;B	0.22683	0.073;0.044	B;B	0.25405	0.06;0.027	T	0.36456	-0.9747	10	0.72032	D	0.01	-16.2189	9.2363	0.37468	0.0:0.0:0.3581:0.6419	.	25;7	F5H620;Q96HP4	.;OXND1_HUMAN	R	7;7;25	ENSP00000285083:M7R;ENSP00000389872:M7R;ENSP00000437967:M25R	ENSP00000285083:M7R	M	+	2	0	OXNAD1	16287483	0.009000	0.17119	0.002000	0.10522	0.181000	0.23173	0.823000	0.27366	0.377000	0.24735	-0.313000	0.08912	ATG	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252109.1		+	ENST00000285083.5	Missense_Mutation	SNP	3 : 16312479 - 16312479 G PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	892	190
PADI3	51702	broad.mit.edu	37	1	17593248	17593248	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:17593248G>A	ENST00000375460.3	+	5	483	c.443G>A	c.(442-444)gGc>gAc	p.G148D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	148					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGGTATGGCGGCATCTTGCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	136	147			NA	NA	1		NA											NA				17593248		2203	4300	6503	SO:0001583	missense			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	51702	51702	3.5.3.15	Peptidyl arginine deiminases	18337	protein-coding gene	gene with protein product		606755			NA	11069618	Standard		NM_016233	NA	Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.443G>A	1.37:g.17593248G>A	ENSP00000364609:p.Gly148Asp	NA	Q58EY7|Q70SX5	37	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359635	0.61403	.	.	ENSG00000142619	ENST00000375460	T	0.14266	2.52	5.15	4.23	0.50019	Protein-arginine deiminase (PAD), central domain (2);	0.052990	0.85682	D	0.000000	T	0.10423	0.0255	N	0.08118	0	0.38404	D	0.945756	P	0.38335	0.627	B	0.42112	0.376	T	0.27226	-1.0080	10	0.87932	D	0	-23.3232	14.4617	0.67453	0.0:0.8491:0.1509:0.0	.	148	Q9ULW8	PADI3_HUMAN	D	148	ENSP00000364609:G148D	ENSP00000364609:G148D	G	+	2	0	PADI3	17465835	1.000000	0.71417	0.661000	0.29709	0.848000	0.48234	5.229000	0.65316	1.169000	0.42739	-0.270000	0.10280	GGC	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006805.1		+	ENST00000375460.3	Missense_Mutation	SNP	1 : 17593248 - 17593248 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	475	5
PATZ1	23598	broad.mit.edu	37	22	31740473	31740473	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr22:31740473C>T	ENST00000266269.5	-	1	1745	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	PATZ1_ENST00000405309.3_Silent_p.R372R|PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	372					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R372R(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ACAGCTTGTGCCGGTTAAGAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	kidney(2)											113	108	110			NA	NA	22		NA											NA				31740473		2203	4300	6503	SO:0001819	synonymous_variant			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105	23598	23598		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	13071	protein-coding gene	gene with protein product		605165	zinc finger protein 278	ZNF278	NA	10591208, 18241078, 18401526	Standard	NM_032052	NM_014323	NA	Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1116G>A	22.37:g.31740473C>T		NA	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	37	CCDS13894.1																																																																																			PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321932.1		-	ENST00000266269.5	Silent	SNP	22 : 31740473 - 31740473 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	576	7
PCDH18	54510	broad.mit.edu	37	4	138449640	138449640	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:138449640A>T	ENST00000507846.1	-	4	2622	c.2069T>A	c.(2068-2070)aTt>aAt	p.I690N	PCDH18_ENST00000412923.2_Missense_Mutation_p.I910N|PCDH18_ENST00000511115.1_Missense_Mutation_p.I91N|PCDH18_ENST00000344876.4_Missense_Mutation_p.I911N|PCDH18_ENST00000510305.1_Missense_Mutation_p.I122N			Q9HCL0	PCD18_HUMAN	protocadherin 18	911					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCTGCTGGAATTCTTCCATC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	156	151			NA	NA	4		NA											NA				138449640		2203	4300	6503	SO:0001583	missense			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184	54510	54510		Cadherins / Protocadherins : Non-clustered	14268	protein-coding gene	gene with protein product		608287			NA	10835267, 11549318	Standard	NM_019035	XM_005263070	NA	Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000507846.1:c.2069T>A	4.37:g.138449640A>T	ENSP00000425903:p.Ile690Asn	NA	A8K7K3|B7ZKT1|Q52LS2	37		.	.	.	.	.	.	.	.	.	.	A	14.02	2.410409	0.42715	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.52754	0.74;0.74;0.65;1.57;1.57	5.56	4.38	0.52667	.	0.000000	0.43747	D	0.000521	T	0.37571	0.1008	L	0.40543	1.245	0.34420	D	0.697313	B;B;B;B	0.10296	0.003;0.0;0.001;0.001	B;B;B;B	0.08055	0.003;0.0;0.001;0.0	T	0.42327	-0.9458	10	0.28530	T	0.3	.	11.4281	0.50022	0.9295:0.0:0.0705:0.0	.	91;690;910;911	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	N	911;910;690;122;91	ENSP00000355082:I911N;ENSP00000390688:I910N;ENSP00000425903:I690N;ENSP00000424269:I122N;ENSP00000425647:I91N	ENSP00000355082:I911N	I	-	2	0	PCDH18	138669090	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.178000	0.71968	0.943000	0.37553	0.533000	0.62120	ATT	PCDH18-003	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364616.1		-	ENST00000507846.1	Missense_Mutation	SNP	4 : 138449640 - 138449640 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	1031	212
PCDHA7	56141	broad.mit.edu	37	5	140216008	140216008	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140216008G>A	ENST00000525929.1	+	1	2040	c.2040G>A	c.(2038-2040)tcG>tcA	p.S680S	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.S680S|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1			protocadherin alpha 7	NA										NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGTCGTCGCGGGCATCGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(160;258 2013 5070 22440 28951)							NA				0													89	82	84			NA	NA	5		NA											NA				140216008		2203	4299	6502	SO:0001819	synonymous_variant			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963	56141	56141		Cadherins / Protocadherins : Clustered	8673	other	complex locus constituent	KIAA0345-like 7, ortholog to mouse CNR4	606313		CNRS4	NA	10380929, 10662547	Standard	NM_018910	NM_018910	NA	Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2040G>A	5.37:g.140216008G>A		NA		37	CCDS54918.1																																																																																			PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372887.2		+	ENST00000525929.1	Silent	SNP	5 : 140216008 - 140216008 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	536	96
PCDHA8	56140	broad.mit.edu	37	5	140221029	140221029	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140221029C>T	ENST00000531613.1	+	1	123	c.123C>T	c.(121-123)caC>caT	p.H41H	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.H41H|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1			protocadherin alpha 8	NA										NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCAAACACGGCACCTTCG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	51	48			NA	NA	5		NA											NA				140221029		2202	4299	6501	SO:0001819	synonymous_variant			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962	56140	56140		Cadherins / Protocadherins : Clustered	8674	other	complex locus constituent	KIAA0345-like 6	606314			NA	10380929	Standard	NM_018911	NM_018911	NA	Approved			Q9Y5H6		ENST00000531613.1:c.123C>T	5.37:g.140221029C>T		NA		37	CCDS54919.1																																																																																			PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372830.2		+	ENST00000531613.1	Silent	SNP	5 : 140221029 - 140221029 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	565	61
PCDHB10	56126	broad.mit.edu	37	5	140573626	140573626	+	Missense_Mutation	SNP	G	G	A	rs139403329		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140573626G>A	ENST00000239446.4	+	1	1685	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92	107	102		1501	-0.9	0	5	dbSNP_134	102	0,8598		0,0,4299	no	missense	PCDHB10	NM_018930.3	58	0,1,6501	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	501/801	140573626	1,13003	2203	4299	6502	SO:0001583	missense			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324	56126	56126		Cadherins / Protocadherins : Clustered	8681	other	protocadherin		606336			NA	10380929	Standard	NM_018930	NM_018930	NA	Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1501G>A	5.37:g.140573626G>A	ENSP00000239446:p.Ala501Thr	NA	Q96T99	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	5.211	0.224416	0.09863	2.27E-4	0.0	ENSG00000120324	ENST00000239446	T	0.01821	4.62	3.53	-0.896	0.10557	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01421	0.0046	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.46596	-0.9180	9	0.38643	T	0.18	.	3.3872	0.07276	0.1695:0.1119:0.542:0.1766	.	501	Q9UN67	PCDBA_HUMAN	T	501	ENSP00000239446:A501T	ENSP00000239446:A501T	A	+	1	0	PCDHB10	140553810	0.000000	0.05858	0.002000	0.10522	0.417000	0.31264	-1.722000	0.01868	0.002000	0.14630	-1.227000	0.01581	GCC	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251821.1		+	ENST00000239446.4	Missense_Mutation	SNP	5 : 140573626 - 140573626 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	1073	8
PCDHB4	56131	broad.mit.edu	37	5	140503632	140503632	+	Silent	SNP	T	T	C			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140503632T>C	ENST00000194152.1	+	1	2052	c.2052T>C	c.(2050-2052)tcT>tcC	p.S684S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	684					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCGACTCTCTCACCGTCT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	74	71			NA	NA	5		NA											NA				140503632		2163	4230	6393	SO:0001819	synonymous_variant			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818	56131	56131		Cadherins / Protocadherins : Clustered	8689	other	protocadherin		606330			NA	10380929	Standard	NM_018938	NM_018938	NA	Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2052T>C	5.37:g.140503632T>C		NA	Q4V761	37	CCDS4246.1																																																																																			PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251812.2		+	ENST00000194152.1	Silent	SNP	5 : 140503632 - 140503632 C PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	1034	9
PCDHGA8	9708	broad.mit.edu	37	5	140773877	140773877	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140773877G>A	ENST00000398604.2	+	1	1497	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1			protocadherin gamma subfamily A, 8	NA										endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGGGGCGCCCCTGTCCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	52	50			NA	NA	5		NA											NA				140773877		2164	4284	6448	SO:0001819	synonymous_variant			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767	9708	9708		Cadherins / Protocadherins : Clustered	8706	other	protocadherin		606295			NA	10380929	Standard	NM_032088	NM_014004	NA	Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1497G>A	5.37:g.140773877G>A		NA		37	CCDS47291.1																																																																																			PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376972.1		+	ENST00000398604.2	Silent	SNP	5 : 140773877 - 140773877 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	232	49
PCSK5	5125	broad.mit.edu	37	9	78790148	78790148	+	Missense_Mutation	SNP	G	G	A	rs68105355		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:78790148G>A	ENST00000376767.3	+	14	2515	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aaatggaatggaatgaaatgg	0.413		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:0001583	missense				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139	5125	5125			8747	protein-coding gene	gene with protein product		600488			NA	7782070	Standard		NM_001190482	NA	Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000376767.3:c.2003G>A	9.37:g.78790148G>A	ENSP00000365958:p.Gly668Glu	NA	Q13527|Q96EP4	37		.	.	.	.	.	.	.	.	.	.	G	6.842	0.524580	0.13066	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.78707	-1.2	.	.	.	.	.	.	.	.	T	0.73426	0.3585	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.65113	-0.6247	4	0.72032	D	0.01	.	.	.	.	.	668	B1AMG5	.	E	668	ENSP00000365958:G668E	ENSP00000365958:G668E	G	+	2	0	PCSK5	77979968	0.002000	0.14202	0.089000	0.20774	0.091000	0.18340	-0.601000	0.05687	0.000000	0.14550	0.000000	0.15137	GGA	PCSK5-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000052718.1		+	ENST00000376767.3	Missense_Mutation	SNP	9 : 78790148 - 78790148 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	101	7
PCSK7	9159	broad.mit.edu	37	11	117079626	117079626	+	Missense_Mutation	SNP	G	G	C	rs145981335	by1000genomes	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:117079626G>C	ENST00000320934.3	-	13	2308	c.1678C>G	c.(1678-1680)Cgc>Ggc	p.R560G	PCSK7_ENST00000540028.1_Missense_Mutation_p.R201G	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	560	Homo B/P.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCATGCTGCGGGGGGCGCCG	0.597		NA	T	IGH@	MLCLS									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													40	43	42			NA	NA	11		NA											NA				117079626		2201	4296	6497	SO:0001583	missense			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613	9159	9159			8748	protein-coding gene	gene with protein product		604872			NA	8615762, 9820811	Standard	NM_004716	XM_006718938	NA	Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1678C>G	11.37:g.117079626G>C	ENSP00000325917:p.Arg560Gly	NA	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	37	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082462	0.36758	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.71222	-0.55;-0.55	4.68	3.77	0.43336	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	M	0.85099	2.735	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	D	0.83562	0.0107	10	0.87932	D	0	-26.4093	7.8865	0.29653	0.0864:0.0:0.7545:0.1591	.	560	Q16549	PCSK7_HUMAN	G	560;201;560	ENSP00000325917:R560G;ENSP00000441944:R201G	ENSP00000325917:R560G	R	-	1	0	PCSK7	116584836	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.527000	0.35975	1.207000	0.43291	-0.362000	0.07510	CGC	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385529.2		-	ENST00000320934.3	Missense_Mutation	SNP	11 : 117079626 - 117079626 C PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	105	19
PGBD4	161779	broad.mit.edu	37	15	34396066	34396066	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:34396066G>A	ENST00000397766.2	+	1	1793	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	445										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CCATCTGAGCGCAAAAGACAC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	71	73			NA	NA	15		NA											NA				34396066		2201	4298	6499	SO:0001583	missense			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405	161779	161779			19401	protein-coding gene	gene with protein product					NA		Standard		NM_152595	NA	Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1334G>A	15.37:g.34396066G>A	ENSP00000380872:p.Arg445His	NA	A1L487|A8K0C6|Q8N9E8	37	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	g	17.93	3.508096	0.64410	.	.	ENSG00000182405	ENST00000397766	T	0.19938	2.11	1.02	-1.24	0.09435	.	3.690650	0.02398	N	0.080343	T	0.34106	0.0886	L	0.55481	1.735	0.09310	N	0.99999	D	0.67145	0.996	D	0.68353	0.957	T	0.23511	-1.0186	10	0.25106	T	0.35	.	1.9806	0.03426	0.4088:0.0:0.3294:0.2618	.	445	Q96DM1	PGBD4_HUMAN	H	445	ENSP00000380872:R445H	ENSP00000380872:R445H	R	+	2	0	PGBD4	32183358	0.487000	0.25988	0.009000	0.14445	0.953000	0.61014	0.430000	0.21428	-0.479000	0.06813	0.306000	0.20318	CGC	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251522.1		+	ENST00000397766.2	Missense_Mutation	SNP	15 : 34396066 - 34396066 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	376	6
PHYKPL	85007	broad.mit.edu	37	5	177657001	177657001	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:177657001G>A	ENST00000476170.2	-	3	298	c.278C>T	c.(277-279)gCg>gTg	p.A93V	PHYKPL_ENST00000481811.1_Intron|PHYKPL_ENST00000308158.5_Missense_Mutation_p.A93V					5-phosphohydroxy-L-lysine phospho-lyase	NA											NA						CAGCCTCTGCGCATAGTCCAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	116	119			NA	NA	5		NA											NA				177657001		2203	4300	6503	SO:0001583	missense			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	85007	85007	4.2.3.134		28249	protein-coding gene	gene with protein product	5-phosphonooxy-L-lysine phospho-lyase	614683	alanine-glyoxylate aminotransferase 2-like 2	AGXT2L2	NA	22241472	Standard	NM_032921	NM_153373	NA	Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000476170.2:c.278C>T	5.37:g.177657001G>A	ENSP00000421810:p.Ala93Val	NA		37		.	.	.	.	.	.	.	.	.	.	G	31	5.082507	0.94050	.	.	ENSG00000175309	ENST00000308158;ENST00000323594;ENST00000476170	T;T;T	0.53857	1.65;0.6;1.65	5.26	5.26	0.73747	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.108809	0.64402	D	0.000007	T	0.79305	0.4423	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	D	0.84816	0.0793	10	0.62326	D	0.03	-7.4134	16.723	0.85415	0.0:0.0:1.0:0.0	.	93	Q8IUZ5	AT2L2_HUMAN	V	93;107;93	ENSP00000310978:A93V;ENSP00000321290:A107V;ENSP00000421810:A93V	ENSP00000310978:A93V	A	-	2	0	AGXT2L2	177589607	1.000000	0.71417	0.423000	0.26634	0.946000	0.59487	9.783000	0.99037	2.632000	0.89209	0.561000	0.74099	GCG	PHYKPL-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000314502.2		-	ENST00000476170.2	Missense_Mutation	SNP	5 : 177657001 - 177657001 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	596	5
PKD2L1	9033	broad.mit.edu	37	10	102056026	102056026	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr10:102056026G>A	ENST00000318222.3	-	7	1591	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	PKD2L1_ENST00000353274.3_Silent_p.F403F|PKD2L1_ENST00000338519.3_Silent_p.F328F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	403					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGAATATGTGGAAGCCCACAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	49	50			NA	NA	10		NA											NA				102056026		2203	4300	6503	SO:0001819	synonymous_variant			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593	9033	9033		Voltage-gated ion channels / Transient receptor potential cation channels	9011	protein-coding gene	gene with protein product	transient receptor potential cation channel, subfamily P, member 3	604532		PKD2L, PKDL	NA	9878261, 9748274	Standard	NM_016112	NM_016112	NA	Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1209C>T	10.37:g.102056026G>A		NA	O75972|Q5W039|Q9UP35|Q9UPA2	37	CCDS7492.1																																																																																			PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049863.2		-	ENST00000318222.3	Silent	SNP	10 : 102056026 - 102056026 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	268	52
PREX1	57580	broad.mit.edu	37	20	47247332	47247332	+	Splice_Site	SNP	C	C	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:47247332C>A	ENST00000371941.3	-	36	4549	c.4527G>T	c.(4525-4527)agG>agT	p.R1509S	PREX1_ENST00000396220.1_Splice_Site_p.G1544V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1509					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGTAAAATGCCCTGCGAGAGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	64	67			NA	NA	20		NA											NA				47247332		2203	4300	6503	SO:0001630	splice_region_variant			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126	57580	57580		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	32594	protein-coding gene	gene with protein product		606905			NA	11955434, 15545267, 16301320	Standard	NM_020820	NM_020820	NA	Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4527-1G>T	20.37:g.47247332C>A		NA	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	37	CCDS13410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.592|9.592	1.126450|1.126450	0.20959|0.20959	.|.	.|.	ENSG00000124126|ENSG00000124126	ENST00000396220|ENST00000371941	T|T	0.62941|0.65732	-0.01|-0.17	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	.|0.000000	.|0.64402	.|U	.|0.000010	T|T	0.71643|0.71643	0.3364|0.3364	M|M	0.71581|0.71581	2.175|2.175	0.48040|0.48040	D|D	0.999579|0.999579	.|D;D	.|0.58620	.|0.971;0.983	.|P;P	.|0.57324	.|0.78;0.818	T|T	0.75428|0.75428	-0.3321|-0.3321	7|10	0.87932|0.87932	D|D	0|0	.|.	10.5481|10.5481	0.45072|0.45072	0.0:0.9103:0.0:0.0897|0.0:0.9103:0.0:0.0897	.|.	.|1509;806	.|Q8TCU6;Q8TCU6-2	.|PREX1_HUMAN;.	V|S	1544|1509	ENSP00000379522:G1544V|ENSP00000361009:R1509S	ENSP00000379522:G1544V|ENSP00000361009:R1509S	G|R	-|-	2|3	0|2	PREX1|PREX1	46680739|46680739	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.439000|0.439000	0.31926|0.31926	3.607000|3.607000	0.54102|0.54102	1.974000|1.974000	0.57490|0.57490	0.558000|0.558000	0.71614|0.71614	GGG|AGG	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079623.1	Missense_Mutation	-	ENST00000371941.3	Splice_Site	SNP	20 : 47247332 - 47247332 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	335	74
PRRG3	79057	broad.mit.edu	37	X	150869406	150869406	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:150869406G>A	ENST00000370353.3	+	4	987	c.597G>A	c.(595-597)gcG>gcA	p.A199A	PRRG3_ENST00000538575.1_Silent_p.A199A			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	199						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGACTGCGCCCCAAGAGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	61	66			NA	NA	X		NA											NA				150869406		2203	4300	6503	SO:0001819	synonymous_variant			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032	79057	79057			30798	protein-coding gene	gene with protein product		300685			NA	11171957	Standard	NM_024082	NM_024082	NA	Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.597G>A	X.37:g.150869406G>A		NA	A1A523|A1A575|Q8N2N6	37	CCDS14699.1																																																																																			PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060880.1		+	ENST00000370353.3	Silent	SNP	X : 150869406 - 150869406 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	147	126
PTPN23	25930	broad.mit.edu	37	3	47452686	47452686	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:47452686C>T	ENST00000265562.4	+	20	3475	c.3398C>T	c.(3397-3399)tCt>tTt	p.S1133F	PTPN23_ENST00000431726.1_Missense_Mutation_p.S1007F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1133					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCACTCAGTCTCCTGGGGGT	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	3		NA											NA				47452686		2134	4220	6354	SO:0001583	missense			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201	25930	25930		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	14406	protein-coding gene	gene with protein product		606584			NA	11095967	Standard	NM_015466	NM_015466	NA	Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3398C>T	3.37:g.47452686C>T	ENSP00000265562:p.Ser1133Phe	NA	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109780	0.37242	.	.	ENSG00000076201	ENST00000265562	T	0.02631	4.22	5.3	4.37	0.52481	.	0.135690	0.49916	D	0.000126	T	0.02083	0.0065	N	0.08118	0	0.22701	N	0.998834	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.48736	-0.9009	10	0.33141	T	0.24	-6.0248	14.322	0.66491	0.0:0.8504:0.1496:0.0	.	1007;1133	B4DST5;Q9H3S7	.;PTN23_HUMAN	F	1133	ENSP00000265562:S1133F	ENSP00000265562:S1133F	S	+	2	0	PTPN23	47427690	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	2.033000	0.41136	2.468000	0.83385	0.563000	0.77884	TCT	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257492.2		+	ENST00000265562.4	Missense_Mutation	SNP	3 : 47452686 - 47452686 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	110	25
RIMS1	22999	broad.mit.edu	37	6	73102486	73102486	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:73102486G>A	ENST00000414192.2	+	3	363	c.173G>A	c.(172-174)cGc>cAc	p.R58H	RIMS1_ENST00000264839.7_Missense_Mutation_p.R1380H|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1314H|RIMS1_ENST00000523963.1_Missense_Mutation_p.R656H|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1181H|RIMS1_ENST00000517827.1_Missense_Mutation_p.R665H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1314H|RIMS1_ENST00000401910.3_Missense_Mutation_p.R851H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1210H|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1531H|RIMS1_ENST00000425662.2_Missense_Mutation_p.R599H|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1130H|RIMS1_ENST00000538414.1_Missense_Mutation_p.R337H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1354H	NM_001168411.1	NP_001161883.1	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1531	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTTGTTGGCCGCCAAACCCTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	80	81			NA	NA	6		NA											NA				73102486		1838	4101	5939	SO:0001583	missense			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841	NA	22999			17282	protein-coding gene	gene with protein product	Rab3-interacting molecule	606629	RAB3 interacting protein 2	RAB3IP2, CORD7	NA	9205841, 11438518	Standard		NM_001168407	NA	Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000414192.2:c.173G>A	6.37:g.73102486G>A	ENSP00000402273:p.Arg58His	NA	A7MBN6|O15048|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	37	CCDS55033.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.433069|5.433069	0.96150|0.96150	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.42513	.|0.97;2.14;2.07;2.15;2.35;2.38;2.37;2.02;2.1;2.37;2.29;1.43;2.28;1.74;1.7;1.99	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.64402	.|D	.|0.000020	T|T	0.65801|0.65801	0.2726|0.2726	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.998;0.985;0.999;1.0;0.999;1.0;0.999;0.999;0.998;1.0;0.998	.|D;D;D;P;D;D;D;D;D;D;D;D;D	.|0.87578	.|0.995;0.991;0.978;0.825;0.988;0.996;0.981;0.998;0.984;0.987;0.939;0.998;0.939	T|T	0.71434|0.71434	-0.4594|-0.4594	5|10	.|0.87932	.|D	.|0	-10.7348|-10.7348	19.3783|19.3783	0.94521|0.94521	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|155;337;665;656;1380;851;1130;434;1210;1314;607;1354;1531	.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	T|H	449|1354;1380;1354;1314;1210;1130;1380;1314;1210;1181;1130;1531;851;656;599;696;665;579;337;58	.|ENSP00000430101:R1354H;ENSP00000275037:R1314H;ENSP00000264839:R1380H;ENSP00000429959:R1314H;ENSP00000430408:R1210H;ENSP00000430502:R1181H;ENSP00000430932:R1130H;ENSP00000428417:R1531H;ENSP00000385649:R851H;ENSP00000428328:R656H;ENSP00000411235:R599H;ENSP00000389503:R696H;ENSP00000428367:R665H;ENSP00000359448:R579H;ENSP00000439730:R337H;ENSP00000402273:R58H	.|ENSP00000264839:R1380H	A|R	+|+	1|2	0|0	RIMS1|RIMS1	73159207|73159207	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.982000|0.982000	0.71751|0.71751	9.869000|9.869000	0.99810|0.99810	2.582000|2.582000	0.87167|0.87167	0.591000|0.591000	0.81541|0.81541	GCC|CGC	RIMS1-009	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041179.2		+	ENST00000414192.2	Missense_Mutation	SNP	6 : 73102486 - 73102486 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	309	5
SCN5A	6331	broad.mit.edu	37	3	38639417	38639417	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:38639417G>A	ENST00000455624.2	-	13	2089	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C	SCN5A_ENST00000333535.4_Missense_Mutation_p.R689C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R689C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R689C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R689C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R689C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	689					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGGCGAGACGGTTCCAGCAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	120	119			NA	NA	3		NA											NA				38639417		2133	4234	6367	SO:0001583	missense			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.2065C>T	3.37:g.38639417G>A	ENSP00000399524:p.Arg689Cys	NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304276	0.40795	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96300	-3.88;-3.91;-3.91;-3.91;-3.91;-3.88;-3.91;-3.97;-3.91;-3.91	4.9	4.9	0.64082	.	1.137170	0.06183	N	0.679836	D	0.97785	0.9273	M	0.80183	2.485	0.44603	D	0.997576	D;D;D;D;D;D;D	0.71674	0.978;0.991;0.987;0.978;0.978;0.998;0.987	B;B;P;B;B;P;P	0.52710	0.328;0.328;0.528;0.328;0.328;0.707;0.528	D	0.94661	0.7848	10	0.87932	D	0	.	18.2549	0.90016	0.0:0.0:1.0:0.0	.	689;689;689;689;689;689;689	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	C	689	ENSP00000398962:R689C;ENSP00000398266:R689C;ENSP00000410257:R689C;ENSP00000388797:R689C;ENSP00000397915:R689C;ENSP00000416634:R689C;ENSP00000328968:R689C;ENSP00000399524:R689C;ENSP00000403355:R689C;ENSP00000413996:R689C	ENSP00000328968:R689C	R	-	1	0	SCN5A	38614421	0.134000	0.22483	0.982000	0.44146	0.405000	0.30901	1.004000	0.29822	2.563000	0.86464	0.491000	0.48974	CGT	SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Missense_Mutation	SNP	3 : 38639417 - 38639417 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	445	82
SLC6A18	348932	broad.mit.edu	37	5	1244416	1244416	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:1244416C>T	ENST00000324642.3	+	10	1547	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	475					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACAATTTTGCCGCTTCCCCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	147	147			NA	NA	5		NA											NA				1244416		2203	4300	6503	SO:0001583	missense			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363	348932	348932		Solute carriers	26441	protein-coding gene	gene with protein product		610300	solute carrier family 6 (neurotransmitter transporter), member 18, solute carrier family 6, member 18		NA	19478081	Standard	NM_182632	NM_182632	NA	Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1424C>T	5.37:g.1244416C>T	ENSP00000323549:p.Ala475Val	NA		37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975383	0.34848	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.76578	-1.03;-1.03	4.87	-1.66	0.08265	.	0.373560	0.27126	N	0.020814	T	0.58177	0.2104	N	0.21617	0.685	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.49341	-0.8950	10	0.87932	D	0	.	5.9492	0.19235	0.0:0.3423:0.141:0.5167	.	475	Q96N87	S6A18_HUMAN	V	475;373	ENSP00000323549:A475V;ENSP00000296821:A373V	ENSP00000296821:A373V	A	+	2	0	SLC6A18	1297416	0.226000	0.23696	0.000000	0.03702	0.001000	0.01503	0.643000	0.24750	-0.361000	0.08125	-1.036000	0.02392	GCC	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206728.3		+	ENST00000324642.3	Missense_Mutation	SNP	5 : 1244416 - 1244416 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	675	6
SMAD4	4089	broad.mit.edu	37	18	48604742	48604743	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr18:48604742_48604743delCC	ENST00000588745.1	+	8	1276_1277	c.1276_1277delCC	c.(1276-1278)cctfs	p.P426fs	SMAD4_ENST00000342988.3_Frame_Shift_Del_p.P522fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P522fs			Q13485	SMAD4_HUMAN	SMAD family member 4	522	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)		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)		CAAAGAAACACCTTGCTGGATT	0.48		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	GRCh37	CD000943	SMAD4	D							NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			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.1276_1277delCC	18.37:g.48604742_48604743delCC	ENSP00000464901:p.Pro426fs	NA	A8K405	37	CCDS11950.1																																																																																			SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Frame_Shift_Del	DEL	18 : 48604742 - 48604743 - PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	390	96
SOHLH2	54937	broad.mit.edu	37	13	36744911	36744911	+	Silent	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:36744911G>A	ENST00000379881.3	-	10	1102	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S415S|SOHLH2_ENST00000554962.1_Silent_p.S415S	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2	NA										autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TCTCTGAGGCGGAGCTTGATG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	96	97			NA	NA	13		NA											NA				36744911		2203	4300	6503	SO:0001819	synonymous_variant			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669	54937	54937		Basic helix-loop-helix proteins	26026	protein-coding gene	gene with protein product	spermatogenesis associated 28				NA	12477932	Standard	NM_017826	NM_017826	NA	Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1014C>T	13.37:g.36744911G>A		NA		37	CCDS9355.1																																																																																			SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044477.2		-	ENST00000379881.3	Silent	SNP	13 : 36744911 - 36744911 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	429	6
SPRYD3	84926	broad.mit.edu	37	12	53462066	53462066	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:53462066C>T	ENST00000547837.1	-	8	870	c.827G>A	c.(826-828)gGc>gAc	p.G276D	SPRYD3_ENST00000301463.4_Missense_Mutation_p.G239D			Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	239										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GATGCTTTTGCCCTTCCCTAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	101	101			NA	NA	12		NA											NA				53462066		2203	4300	6503	SO:0001583	missense			AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778	84926	84926			25920	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_032840	NM_032840	NA	Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000547837.1:c.827G>A	12.37:g.53462066C>T	ENSP00000449452:p.Gly276Asp	NA	B9EG99|Q96SK5	37		.	.	.	.	.	.	.	.	.	.	C	32	5.152619	0.94645	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.67345	-0.5694	9	0.48119	T	0.1	.	16.5377	0.84377	0.0:1.0:0.0:0.0	.	239	Q8NCJ5	SPRY3_HUMAN	D	239;276	.	ENSP00000301463:G239D	G	-	2	0	SPRYD3	51748333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.218000	0.77991	2.575000	0.86900	0.561000	0.74099	GGC	SPRYD3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407266.1		-	ENST00000547837.1	Missense_Mutation	SNP	12 : 53462066 - 53462066 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	857	6
SPTA1	6708	broad.mit.edu	37	1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCCAGCCGCAACTGGATC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,3960		0,0,1980	116	123	121		5377	3.6	1	1		121	1,8319		0,1,4159	no	missense	SPTA1	NM_003126.2	101	0,1,6139	AA,AG,GG	NA	0.012,0.0,0.0081	probably-damaging	1793/2420	158605758	1,12279	1980	4160	6140	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5377C>T	1.37:g.158605758G>A	ENSP00000357129:p.Arg1793Trp	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033837	0.54896	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56444	0.46;0.46	5.65	3.62	0.41486	.	0.000000	0.29266	N	0.012655	T	0.70736	0.3258	M	0.89840	3.065	0.50467	D	0.999872	D	0.89917	1.0	D	0.97110	1.0	T	0.78663	-0.2116	10	0.87932	D	0	.	13.3664	0.60687	0.0:0.0:0.6481:0.3519	.	1793	P02549	SPTA1_HUMAN	W	1793	ENSP00000357130:R1793W;ENSP00000357129:R1793W	ENSP00000357129:R1793W	R	-	1	2	SPTA1	156872382	1.000000	0.71417	0.987000	0.45799	0.205000	0.24178	2.658000	0.46733	1.575000	0.49775	0.655000	0.94253	CGG	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158605758 - 158605758 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	882	6
SRPK3	26576	broad.mit.edu	37	X	153050878	153050892	+	In_Frame_Del	DEL	CACAGTTCAGCGCCT	CACAGTTCAGCGCCT	-			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	CACAGTTCAGCGCCT	CACAGTTCAGCGCCT	-	-	CACAGTTCAGCGCCT	CACAGTTCAGCGCCT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:153050878_153050892delCACAGTTCAGCGCCT	ENST00000489426.1	+	21	4174_4188	c.1808_1822delCACAGTTCAGCGCCT	c.(1807-1824)acacagttcagcgccttt>att	p.603_608TQFSAF>I	SRPK3_ENST00000393786.3_In_Frame_Del_p.502_507TQFSAF>I|SRPK3_ENST00000370100.1_In_Frame_Del_p.461_466TQFSAF>I|SRPK3_ENST00000370108.3_In_Frame_Del_p.503_508TQFSAF>I|SRPK3_ENST00000370104.1_In_Frame_Del_p.535_540TQFSAF>I|SRPK3_ENST00000370101.3_In_Frame_Del_p.536_541TQFSAF>I			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	536					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCAGGCCACACAGTTCAGCGCCTTTCTGCTGCC	0.628		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(167;766 3400 32156)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343	26576	26576			11402	protein-coding gene	gene with protein product			serine/threonine kinase 23, SFRS protein kinase 3	STK23	NA	16140986	Standard	NM_014370	NM_014370	NA	Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000489426.1:c.1808_1822delCACAGTTCAGCGCCT	X.37:g.153050878_153050892delCACAGTTCAGCGCCT	ENSP00000420058:p.Thr603_Phe608delinsIle	NA	Q13583|Q4F970|Q562F5|Q9UM62	37																																																																																				SRPK3-007	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354502.1		+	ENST00000489426.1	In_Frame_Del	DEL	X : 153050878 - 153050892 - PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	224	101
STK38	11329	broad.mit.edu	37	6	36489591	36489591	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:36489591G>A	ENST00000229812.7	-	5	595	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	104	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAACAAGCCGTACCTAAAAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(180;997 3561 16158)							NA				0													84	91	89			NA	NA	6		NA											NA				36489591		2203	4300	6503	SO:0001583	missense				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079	11329	11329			17847	protein-coding gene	gene with protein product		606964			NA	7761441	Standard	NM_007271	NM_007271	NA	Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.310C>T	6.37:g.36489591G>A	ENSP00000229812:p.Arg104Trp	NA	Q503A1	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351134	0.82132	.	.	ENSG00000112079	ENST00000229812	T	0.39406	1.08	5.49	4.56	0.56223	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	N	0.17474	0.49	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.43475	-0.9389	10	0.87932	D	0	.	14.9777	0.71286	0.0:0.0:0.784:0.216	.	104	Q15208	STK38_HUMAN	W	104	ENSP00000229812:R104W	ENSP00000229812:R104W	R	-	1	2	STK38	36597569	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.289000	0.72696	2.865000	0.98341	0.655000	0.94253	CGG	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040346.1		-	ENST00000229812.7	Missense_Mutation	SNP	6 : 36489591 - 36489591 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	303	5
TERT	7015	broad.mit.edu	37	5	1260644	1260644	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:1260644C>T	ENST00000310581.5	-	12	2972	c.2915G>A	c.(2914-2916)cGc>cAc	p.R972H	TERT_ENST00000334602.6_Missense_Mutation_p.R909H|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	972	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AAAGAGTTTGCGACGCATGTT	0.562		NA							TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	126	122			NA	NA	5		NA											NA				1260644		2132	4226	6358	SO:0001583	missense	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362	NA	7015			11730	protein-coding gene	gene with protein product		187270			NA	9252327	Standard		NM_198253	NA	Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2915G>A	5.37:g.1260644C>T	ENSP00000309572:p.Arg972His	NA	O14783|Q2XS35|Q8N6C3|Q8NG46	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	7.249	0.602786	0.13939	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	T;T	0.65549	-0.16;-0.16	4.53	-0.866	0.10659	.	0.610202	0.16470	N	0.213001	T	0.47507	0.1449	L	0.61387	1.9	0.09310	N	1	P;P	0.42078	0.589;0.77	B;B	0.27500	0.053;0.08	T	0.38779	-0.9645	10	0.45353	T	0.12	-10.2335	9.3037	0.37863	0.0:0.3498:0.0:0.6502	.	909;972	O14746-3;O14746	.;TERT_HUMAN	H	972;909	ENSP00000309572:R972H;ENSP00000334346:R909H	ENSP00000309572:R972H	R	-	2	0	TERT	1313644	0.011000	0.17503	0.241000	0.24154	0.257000	0.26127	-0.013000	0.12678	-0.092000	0.12417	-0.258000	0.10820	CGC	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206729.2		-	ENST00000310581.5	Missense_Mutation	SNP	5 : 1260644 - 1260644 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	413	5
TLN2	83660	broad.mit.edu	37	15	63088384	63088384	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:63088384C>A	ENST00000561311.1	+	46	6172	c.5942C>A	c.(5941-5943)aCa>aAa	p.T1981K	TLN2_ENST00000306829.6_Missense_Mutation_p.T1981K			Q9Y4G6	TLN2_HUMAN	talin 2	1981					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCATGCATTACAGCCGCCACC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	15		NA											NA				63088384		2203	4300	6503	SO:0001583	missense			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914	83660	83660			15447	protein-coding gene	gene with protein product		607349			NA	9205841, 11527381	Standard		NM_015059	NA	Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5942C>A	15.37:g.63088384C>A	ENSP00000453508:p.Thr1981Lys	NA	A6NLB8	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317805	0.81469	.	.	ENSG00000171914	ENST00000306829	T	0.69040	-0.37	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.75155	0.3811	M	0.64997	1.995	0.80722	D	1	D	0.67145	0.996	P	0.55303	0.773	T	0.70941	-0.4735	10	0.23302	T	0.38	-17.5484	19.3855	0.94554	0.0:1.0:0.0:0.0	.	1981	Q9Y4G6	TLN2_HUMAN	K	1981	ENSP00000303476:T1981K	ENSP00000303476:T1981K	T	+	2	0	TLN2	60875437	1.000000	0.71417	0.964000	0.40570	0.521000	0.34408	7.776000	0.85560	2.569000	0.86673	0.655000	0.94253	ACA	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257878.2		+	ENST00000561311.1	Missense_Mutation	SNP	15 : 63088384 - 63088384 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	401	6
TLR1	7096	broad.mit.edu	37	4	38799732	38799732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:38799732G>A	ENST00000502213.2	-	3	950	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	TLR1_ENST00000308979.2_Nonsense_Mutation_p.Q241*			Q15399	TLR1_HUMAN	toll-like receptor 1	241					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GGATTTGTTTGAAGTTTCGCC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(5;216 373 40795 46382)							NA				0													59	65	63			NA	NA	4		NA											NA				38799732		2203	4299	6502	SO:0001587	stop_gained			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125	7096	7096		CD molecules	11847	protein-coding gene	gene with protein product		601194			NA	9435236, 7584026	Standard		NM_003263	NA	Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.721C>T	4.37:g.38799732G>A	ENSP00000421259:p.Gln241*	NA	O15452|Q32MK3|Q9UG90	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798266	0.70567	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	.	.	.	4.69	0.633	0.17712	.	1.133800	0.06641	N	0.761075	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.2911	0.37786	0.0:0.11:0.2678:0.6222	.	.	.	.	X	241	.	ENSP00000354932:Q241X	Q	-	1	0	TLR1	38476127	0.050000	0.20438	0.077000	0.20336	0.001000	0.01503	0.818000	0.27295	0.259000	0.21709	-0.169000	0.13324	CAA	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360510.3		-	ENST00000502213.2	Nonsense_Mutation	SNP	4 : 38799732 - 38799732 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	216	50
TMPRSS11E	28983	broad.mit.edu	37	4	69337338	69337338	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:69337338A>G	ENST00000305363.4	+	5	551	c.487A>G	c.(487-489)Aaa>Gaa	p.K163E		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	163	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGTTAAAATTAAAAGTAAGTT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	81	79			NA	NA	4		NA											NA				69337338		2203	4298	6501	SO:0001583	missense			AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128	28983	28983		Serine peptidases / Transmembrane	24465	protein-coding gene	gene with protein product		610399	transmembrane protease, serine 11E2	TMPRSS11E2	NA	15328353	Standard	NM_014058	NM_014058	NA	Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.487A>G	4.37:g.69337338A>G	ENSP00000307519:p.Lys163Glu	NA	A6NL71|Q14DC8|Q6UW31	37	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	A	8.476	0.858592	0.17178	.	.	ENSG00000087128	ENST00000305363	T	0.31769	1.48	5.83	5.83	0.93111	.	0.391906	0.21879	N	0.067776	T	0.19765	0.0475	L	0.27053	0.805	0.31370	N	0.680243	P	0.37781	0.608	B	0.35413	0.202	T	0.09662	-1.0664	10	0.10111	T	0.7	.	12.5838	0.56406	1.0:0.0:0.0:0.0	.	163	Q9UL52	TM11E_HUMAN	E	163	ENSP00000307519:K163E	ENSP00000307519:K163E	K	+	1	0	TMPRSS11E	69019933	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	3.137000	0.50562	2.229000	0.72834	0.482000	0.46254	AAA	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360584.1		+	ENST00000305363.4	Missense_Mutation	SNP	4 : 69337338 - 69337338 G PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	622	111
TRIM67	440730	broad.mit.edu	37	1	231339743	231339743	+	Silent	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:231339743C>T	ENST00000444294.3	+	6	2517	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	TRIM67_ENST00000366652.2_Silent_p.A555A|TRIM67_ENST00000449018.3_Silent_p.A493A|TRIM67_ENST00000366653.5_Silent_p.A555A	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	555	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACGACGGTGCCGGGGGACAGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	67	62			NA	NA	1		NA											NA				231339743		2036	4178	6214	SO:0001819	synonymous_variant			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283	440730	440730		Tripartite motif containing / Tripartite motif containing, Fibronectin type III domain containing, RING-type (C3HC4) zinc fingers	31859	protein-coding gene	gene with protein product		610584	tripartite motif-containing 67		NA		Standard	NM_001004342	NM_001004342	NA	Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000444294.3:c.1659C>T	1.37:g.231339743C>T		NA	Q5TER7|Q5TER8|Q7Z4K7	37																																																																																				TRIM67-003	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000092851.2		+	ENST00000444294.3	Silent	SNP	1 : 231339743 - 231339743 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	325	36
TRPC6	7225	broad.mit.edu	37	11	101375398	101375398	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:101375398C>T	ENST00000532133.1	-	2	304	c.302G>A	c.(301-303)cGc>cAc	p.R101H	TRPC6_ENST00000344327.3_Missense_Mutation_p.R101H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R101H|TRPC6_ENST00000348423.4_Missense_Mutation_p.R101H			Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	101					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATCCAAAAAGCGTTCCTCCTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(166;1315 1927 11094 12848 34731)							NA				0													152	148	149			NA	NA	11		NA											NA				101375398		2203	4299	6502	SO:0001583	missense			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672	7225	7225		Voltage-gated ion channels / Transient receptor potential cation channels	12338	protein-coding gene	gene with protein product		603652	focal segmental glomerulosclerosis 2	FSGS2	NA	9925922, 16382100, 15879175	Standard	NM_004621	NM_004621	NA	Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000532133.1:c.302G>A	11.37:g.101375398C>T	ENSP00000435574:p.Arg101His	NA	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	37		.	.	.	.	.	.	.	.	.	.	C	15.46	2.839593	0.51057	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.80393	-1.17;-1.26;-1.09;-1.37	5.87	5.87	0.94306	.	0.096864	0.64402	D	0.000001	D	0.87577	0.6212	L	0.47190	1.495	0.54753	D	0.999989	B;D;B	0.89917	0.37;1.0;0.128	B;D;B	0.91635	0.087;0.999;0.018	D	0.86300	0.1679	10	0.48119	T	0.1	-6.1692	20.206	0.98277	0.0:1.0:0.0:0.0	.	101;101;101	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	H	101	ENSP00000340913:R101H;ENSP00000435574:R101H;ENSP00000343672:R101H;ENSP00000353687:R101H	ENSP00000340913:R101H	R	-	2	0	TRPC6	100880608	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.915000	0.56409	2.785000	0.95823	0.655000	0.94253	CGC	TRPC6-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394771.1		-	ENST00000532133.1	Missense_Mutation	SNP	11 : 101375398 - 101375398 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	754	142
USP43	124739	broad.mit.edu	37	17	9631939	9631939	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:9631939G>A	ENST00000285199.7	+	15	3100	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	USP43_ENST00000570475.1_Missense_Mutation_p.V997M|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	NA					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TCTGAGGTCCGTGTTTCGGAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	38	37			NA	NA	17		NA											NA				9631939		1961	4142	6103	SO:0001583	missense			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914	124739	124739		Ubiquitin-specific peptidases	20072	protein-coding gene	gene with protein product			ubiquitin specific protease 43		NA	12838346	Standard	NM_153210	NM_153210	NA	Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3004G>A	17.37:g.9631939G>A	ENSP00000285199:p.Val1002Met	NA	A6NDT9|B7ZLT9|Q8N2C5|Q96DQ6	37	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	6.121	0.390479	0.11581	.	.	ENSG00000154914	ENST00000285199	T	0.10192	2.9	5.24	-0.892	0.10570	.	7.908350	0.00166	N	0.000002	T	0.10723	0.0262	L	0.57536	1.79	0.18873	N	0.999985	B;P;B;P	0.42757	0.297;0.668;0.297;0.789	B;B;B;B	0.27500	0.023;0.055;0.023;0.08	T	0.46162	-0.9211	10	0.51188	T	0.08	-12.3583	8.6472	0.34013	0.4535:0.0:0.5465:0.0	.	997;691;1002;514	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	M	1002	ENSP00000285199:V1002M	ENSP00000285199:V1002M	V	+	1	0	USP43	9572664	0.014000	0.17966	0.378000	0.26068	0.003000	0.03518	0.017000	0.13399	-0.027000	0.13873	-0.768000	0.03414	GTG	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439855.3		+	ENST00000285199.7	Missense_Mutation	SNP	17 : 9631939 - 9631939 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	195	4
UTP20	27340	broad.mit.edu	37	12	101760468	101760468	+	Silent	SNP	C	C	T	rs112368779		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:101760468C>T	ENST00000261637.4	+	47	6432	c.6258C>T	c.(6256-6258)tcC>tcT	p.S2086S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2086					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTATTGAGTCCGGGCTTCGGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	123	123			NA	NA	12		NA											NA				101760468		2203	4300	6503	SO:0001819	synonymous_variant			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800	27340	27340			17897	protein-coding gene	gene with protein product	down regulated in metastasis	612822			NA	9673349, 15590835, 12837249	Standard	NM_014503	NM_014503	NA	Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6258C>T	12.37:g.101760468C>T		NA	Q9H3H4	37	CCDS9081.1																																																																																			UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408242.1		+	ENST00000261637.4	Silent	SNP	12 : 101760468 - 101760468 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	514	14
WDR44	54521	broad.mit.edu	37	X	117527019	117527019	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:117527019C>T	ENST00000254029.3	+	4	1006	c.611C>T	c.(610-612)gCc>gTc	p.A204V	WDR44_ENST00000371825.3_Missense_Mutation_p.A204V|WDR44_ENST00000371822.5_Missense_Mutation_p.A179V|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	204						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.A204G(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGATTTTGCCGCTGTGGAA	0.488		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)											144	125	132			NA	NA	X		NA											NA				117527019		2203	4300	6503	SO:0001583	missense			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725	54521	54521		WD repeat domain containing	30512	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_019045	NM_019045	NA	Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.611C>T	X.37:g.117527019C>T	ENSP00000254029:p.Ala204Val	NA	Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	37	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	7.626	0.677788	0.14841	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.73152	-0.72;-0.14;-0.02	5.69	2.87	0.33458	.	0.693990	0.14300	N	0.328333	T	0.50497	0.1619	N	0.19112	0.55	0.21473	N	0.999679	B;B;B	0.18166	0.026;0.01;0.007	B;B;B	0.23419	0.046;0.022;0.015	T	0.36962	-0.9726	10	0.33940	T	0.23	-0.7721	2.9206	0.05767	0.1398:0.5526:0.1462:0.1614	.	179;204;204	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	V	179;204;204	ENSP00000360887:A179V;ENSP00000254029:A204V;ENSP00000360890:A204V	ENSP00000254029:A204V	A	+	2	0	WDR44	117411047	0.995000	0.38212	0.182000	0.23118	0.191000	0.23601	0.769000	0.26604	0.153000	0.19213	-0.253000	0.11424	GCC	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058001.1		+	ENST00000254029.3	Missense_Mutation	SNP	X : 117527019 - 117527019 T PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	415	5
ZFP57	346171	broad.mit.edu	37	6	29641221	29641221	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:29641221G>A	ENST00000376883.1	-	6	1018	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	ZFP57_ENST00000488757.1_Missense_Mutation_p.R223C|ZFP57_ENST00000376881.3_Missense_Mutation_p.R203C			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	139					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AGATGCATGCGTCTGTGATAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	102	98			NA	NA	6		NA											NA				29641221		1350	2606	3956	SO:0001583	missense			AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644	346171	346171		Zinc fingers, C2H2-type, -	18791	protein-coding gene	gene with protein product		612192	chromosome 6 open reading frame 40, zinc finger protein 57 homolog (mouse)	C6orf40	NA		Standard	XM_294093	NM_001109809	NA	Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000376883.1:c.607C>T	6.37:g.29641221G>A	ENSP00000366080:p.Arg203Cys	NA	B0S894|B0V254|B2RXJ7|Q5SSB1	37		.	.	.	.	.	.	.	.	.	.	G	10.97	1.500590	0.26861	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.25749	1.78;1.78;1.78	4.4	2.57	0.30868	.	0.531595	0.15970	N	0.235819	T	0.20455	0.0492	M	0.83603	2.65	0.09310	N	1	D;D	0.56968	0.978;0.978	P;P	0.46275	0.51;0.51	T	0.05037	-1.0910	10	0.87932	D	0	-10.225	7.8719	0.29571	0.0959:0.1674:0.7367:0.0	.	223;203	Q9NU63-3;Q9NU63-2	.;.	C	223;203;203	ENSP00000418259:R223C;ENSP00000366078:R203C;ENSP00000366080:R203C	ENSP00000366078:R203C	R	-	1	0	ZFP57	29749200	0.000000	0.05858	0.014000	0.15608	0.026000	0.11368	0.838000	0.27572	1.182000	0.42928	0.650000	0.86243	CGC	ZFP57-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000132460.2		-	ENST00000376883.1	Missense_Mutation	SNP	6 : 29641221 - 29641221 A PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	367	93
ZMIZ2	83637	broad.mit.edu	37	7	44805162	44805162	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:44805162C>G	ENST00000309315.4	+	16	2349	c.2226C>G	c.(2224-2226)agC>agG	p.S742R	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S710R|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S716R|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S742R|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S684R	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	742	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCCCCCAGCGACTACCCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(20;604 852 1948 16908 50522)							NA				0													12	13	13			NA	NA	7		NA											NA				44805162		1788	3903	5691	SO:0001583	missense			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515	83637	83637		Zinc fingers, MIZ-type	22229	protein-coding gene	gene with protein product		611196			NA		Standard	NM_031449	XM_005249866	NA	Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2226C>G	7.37:g.44805162C>G	ENSP00000311778:p.Ser742Arg	NA	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266217	0.40095	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.33865	1.4;1.39;1.39;1.39;1.41	5.14	-0.476	0.12100	.	0.724500	0.13304	N	0.398004	T	0.29914	0.0748	L	0.59436	1.845	0.32588	N	0.527618	B;P;B	0.37141	0.009;0.584;0.409	B;B;B	0.37833	0.017;0.259;0.203	T	0.36237	-0.9756	10	0.39692	T	0.17	-2.9204	5.127	0.14890	0.1374:0.4536:0.0:0.409	.	716;742;684	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	R	684;742;742;710;716;745	ENSP00000409648:S684R;ENSP00000311778:S742R;ENSP00000414723:S742R;ENSP00000396601:S710R;ENSP00000265346:S716R	ENSP00000265346:S716R	S	+	3	2	ZMIZ2	44771687	0.000000	0.05858	0.735000	0.30896	0.987000	0.75469	-2.469000	0.00992	0.016000	0.14998	0.561000	0.74099	AGC	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341790.1		+	ENST00000309315.4	Missense_Mutation	SNP	7 : 44805162 - 44805162 G PAAD-TCGA-US-A77G-Tumor-SM-4WPAD	139	25
