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
AKAP4	8852	broad.mit.edu	37	X	49957303	49957303	+	Silent	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:49957303A>G	ENST00000376056.2	-	5	2184	c.2034T>C	c.(2032-2034)agT>agC	p.S678S	AKAP4_ENST00000376058.2_Silent_p.S304S|AKAP4_ENST00000376064.3_Silent_p.S678S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.S687S			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	687					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCTTCATCCCACTGGTACAGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	92	104			NA	NA	X		NA											NA				49957303		2203	4300	6503	SO:0001819	synonymous_variant			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081	8852	8852		A-kinase anchor proteins	374	protein-coding gene	gene with protein product	A-kinase anchor protein 82 kDa, testis-specific gene HI, protein kinase A anchoring protein 4, cancer/testis antigen 99	300185			NA	9822690, 9514854	Standard	NM_003886	NM_003886	NA	Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2034T>C	X.37:g.49957303A>G		NA	A0AV85|O60904|O95246|Q5JQD1|Q5JQD2|Q5JQD3	37	CCDS14330.1																																																																																			AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056552.1		-	ENST00000376056.2	Silent	SNP	X : 49957303 - 49957303 G PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	281	9
ALK	238	broad.mit.edu	37	2	30143012	30143012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:30143012C>T	ENST00000389048.3	-	1	1420	c.514G>A	c.(514-516)Gag>Aag	p.E172K	ALK_ENST00000431873.1_Missense_Mutation_p.E172K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	172					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTGAACAGCTCGCTGAGATTG	0.647		NA	T, Mis, A	NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22	ALCL, NSCLC, Neuroblastoma	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		L, E, M	0													26	32	30			NA	NA	2		NA											NA				30143012		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094	238	238		CD molecules	427	protein-coding gene	gene with protein product		105590	anaplastic lymphoma kinase (Ki-1)		NA	8122112	Standard	NM_004304	NM_004304	NA	Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.514G>A	2.37:g.30143012C>T	ENSP00000373700:p.Glu172Lys	NA	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585036	0.66105	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.80033	-1.33;2.7	5.33	5.33	0.75918	.	.	.	.	.	T	0.69886	0.3161	N	0.24115	0.695	0.32250	N	0.571579	B	0.28258	0.205	B	0.19666	0.026	T	0.68503	-0.5391	8	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	172	Q9UM73	ALK_HUMAN	K	172	ENSP00000373700:E172K;ENSP00000414027:E172K	.	E	-	1	0	ALK	29996516	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.012000	0.40932	2.652000	0.90054	0.655000	0.94253	GAG	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324994.1		-	ENST00000389048.3	Missense_Mutation	SNP	2 : 30143012 - 30143012 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	248	6
ARAP1	116985	broad.mit.edu	37	11	72422096	72422096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:72422096G>A	ENST00000359373.5	-	9	2034	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R150*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R155*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.R395*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R395*			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	395	PH 1.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCAAAGGTTCGGTTGTTTGTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(102;1198 1520 13195 17913 37529)							NA				0													160	128	139			NA	NA	11		NA											NA				72422096		2200	4293	6493	SO:0001587	stop_gained			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635	116985	116985		ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16925	protein-coding gene	gene with protein product		606646	centaurin, delta 2	CENTD2	NA		Standard	NM_001040118	NM_001040118	NA	Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000359373.5:c.1183C>T	11.37:g.72422096G>A	ENSP00000352332:p.Arg395*	NA	A3KLL7|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	37		.	.	.	.	.	.	.	.	.	.	G	45	11.461141	0.99564	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	.	.	.	5.52	4.61	0.57282	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6244	0.62155	0.0:0.0:0.8439:0.1561	.	.	.	.	X	395;395;155;150;395;150;150;184	.	ENSP00000335506:R150X	R	-	1	2	ARAP1	72099744	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.092000	0.50207	1.343000	0.45638	-0.152000	0.13540	CGA	ARAP1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000347429.2		-	ENST00000359373.5	Nonsense_Mutation	SNP	11 : 72422096 - 72422096 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	755	38
ARHGAP31	57514	broad.mit.edu	37	3	119128441	119128441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:119128441G>A	ENST00000264245.4	+	11	2276	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	582					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGCCAGGCGCCCACCTGGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(7;176 297 5394 51128 51241)							NA				0													33	36	35			NA	NA	3		NA											NA				119128441		1883	4107	5990	SO:0001583	missense				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081	57514	57514		Rho GTPase activating proteins	29216	protein-coding gene	gene with protein product		610911			NA	9786927, 12819203, 16519628	Standard		NM_020754	NA	Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1744G>A	3.37:g.119128441G>A	ENSP00000264245:p.Ala582Thr	NA	Q9ULL6	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477473	0.01035	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.05925	3.37	5.27	-10.5	0.00291	.	1.661360	0.03193	N	0.173588	T	0.02083	0.0065	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.02654	T	1	.	5.8933	0.18925	0.5415:0.2715:0.1077:0.0793	.	582	Q2M1Z3	RHG31_HUMAN	T	582	ENSP00000264245:A582T	ENSP00000264245:A582T	A	+	1	0	ARHGAP31	120611131	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.506000	0.00448	-3.278000	0.00198	-1.594000	0.00841	GCC	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354942.2		+	ENST00000264245.4	Missense_Mutation	SNP	3 : 119128441 - 119128441 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	188	10
ATG3	64422	broad.mit.edu	37	3	112267472	112267472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:112267472C>T	ENST00000402314.2	-	5	638	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	ATG3_ENST00000283290.5_Missense_Mutation_p.R84Q|ATG3_ENST00000495756.1_5'UTR	NM_001278712.1	NP_001265641.1	Q9NT62	ATG3_HUMAN	autophagy related 3	84					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTGTTTGCACCGCTTATAGCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	115	119			NA	NA	3		NA											NA				112267472		2203	4299	6502	SO:0001583	missense				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848	64422	64422			20962	protein-coding gene	gene with protein product		609606	APG3 autophagy 3-like (S. cerevisiae), ATG3 autophagy related 3 homolog (S. cerevisiae)	APG3L	NA	11825910	Standard	NM_022488	NM_022488	NA	Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000402314.2:c.251G>A	3.37:g.112267472C>T	ENSP00000385943:p.Arg84Gln	NA	Q6PKC5|Q9H6L9	37		.	.	.	.	.	.	.	.	.	.	C	35	5.539479	0.96474	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.32	5.32	0.75619	Autophagy-related protein 3, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	M	0.93638	3.44	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.982;0.974	D	0.90176	0.4239	9	0.87932	D	0	0.0444	18.5844	0.91183	0.0:1.0:0.0:0.0	.	84;84	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	Q	84	.	ENSP00000283290:R84Q	R	-	2	0	ATG3	113750162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.416000	0.66417	2.482000	0.83794	0.591000	0.81541	CGG	ATG3-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000354149.1		-	ENST00000402314.2	Missense_Mutation	SNP	3 : 112267472 - 112267472 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	211	7
BAI1	575	broad.mit.edu	37	8	143603440	143603440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:143603440C>T	ENST00000517894.1	+	21	4033	c.3139C>T	c.(3139-3141)Cgc>Tgc	p.R1047C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTCCGGAACCGCCTCATCCG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	41	38			NA	NA	8		NA											NA				143603440		2198	4299	6497	SO:0001583	missense			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790	575	575		-, GPCR / Class B : Orphans	943	protein-coding gene	gene with protein product		602682			NA	9533023	Standard	NM_001702	NM_001702	NA	Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3139C>T	8.37:g.143603440C>T	ENSP00000430945:p.Arg1047Cys	NA		37		.	.	.	.	.	.	.	.	.	.	C	14.72	2.619636	0.46736	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.50813	0.73;0.73	3.78	2.89	0.33648	.	0.162599	0.41938	U	0.000782	T	0.49762	0.1576	M	0.83603	2.65	0.58432	D	0.999992	B	0.16802	0.019	B	0.17433	0.018	T	0.51593	-0.8686	10	0.72032	D	0.01	.	9.8607	0.41112	0.0:0.897:0.0:0.103	.	1047	E9PBK0	.	C	1047	ENSP00000430945:R1047C;ENSP00000313046:R1047C	ENSP00000313046:R1047C	R	+	1	0	BAI1	143600442	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.563000	0.60823	0.558000	0.29135	0.305000	0.20034	CGC	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000379963.3		+	ENST00000517894.1	Missense_Mutation	SNP	8 : 143603440 - 143603440 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	203	11
CAMTA1	23261	broad.mit.edu	37	1	7796575	7796575	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:7796575C>T	ENST00000303635.7	+	13	3445	c.3238C>T	c.(3238-3240)Cta>Tta	p.L1080L	CAMTA1_ENST00000439411.2_Silent_p.L1080L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1080					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTATGCCACCCTAATCCAGAC	0.607		NA	T	WWTR1	epitheliod hemangioendothelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													95	91	92			NA	NA	1		NA											NA				7796575		2203	4300	6503	SO:0001819	synonymous_variant			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735	23261	23261			18806	protein-coding gene	gene with protein product		611501			NA	11925432	Standard	NM_015215	NM_001195563	NA	Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3238C>T	1.37:g.7796575C>T		NA	A7MBM4|Q5VUE1|Q6V701|Q8WYI3	37	CCDS30576.1																																																																																			CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003588.3		+	ENST00000303635.7	Silent	SNP	1 : 7796575 - 7796575 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	566	24
CAPN15	6650	broad.mit.edu	37	16	601540	601540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:601540C>T	ENST00000219611.2	+	9	2584	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15	NA											NA						CCCGTGGGGCCGTTTCTCCTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	66	65			NA	NA	16		NA											NA				601540		2200	4295	6495	SO:0001583	missense			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326	6650	6650			11182	protein-coding gene	gene with protein product		603267	small optic lobes (Drosophila) homolog, small optic lobes homolog (Drosophila)	SOLH	NA	9722942	Standard	NM_005632	NM_005632	NA	Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2221C>T	16.37:g.601540C>T	ENSP00000219611:p.Arg741Cys	NA		37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	c	32	5.111900	0.94339	.	.	ENSG00000103326	ENST00000219611	D	0.87966	-2.32	5.26	5.26	0.73747	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.91459	0.7304	L	0.45470	1.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92323	0.5867	10	0.87932	D	0	.	17.4216	0.87516	0.0:1.0:0.0:0.0	.	741	O75808	CAN15_HUMAN	C	741	ENSP00000219611:R741C	ENSP00000219611:R741C	R	+	1	0	SOLH	541541	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	5.883000	0.69721	2.463000	0.83235	0.556000	0.70494	CGT	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239271.1		+	ENST00000219611.2	Missense_Mutation	SNP	16 : 601540 - 601540 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	566	8
CAPZA3	93661	broad.mit.edu	37	12	18891852	18891852	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:18891852A>G	ENST00000317658.3	+	1	808	c.650A>G	c.(649-651)aAc>aGc	p.N217S		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	217					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAAATAGTTAACCAAGCTCAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	SER/ASN	0,4406		0,0,2203	64	66	65		650	4.8	1	12		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAPZA3	NM_033328.2	46	0,1,6502	GG,GA,AA	NA	0.0116,0.0,0.0077	benign	217/300	18891852	1,13005	2203	4300	6503	SO:0001583	missense			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938	93661	93661			24205	protein-coding gene	gene with protein product		608722			NA	12029070	Standard	NM_033328	NM_033328	NA	Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.650A>G	12.37:g.18891852A>G	ENSP00000326238:p.Asn217Ser	NA	Q969J0	37	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972165	0.53614	0.0	1.16E-4	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.288858	0.31673	N	0.007253	T	0.61850	0.2380	L	0.41906	1.305	0.37992	D	0.933951	D	0.59767	0.986	P	0.58928	0.848	T	0.65158	-0.6236	9	0.40728	T	0.16	-22.2602	11.8334	0.52309	1.0:0.0:0.0:0.0	.	217	Q96KX2	CAZA3_HUMAN	S	217	.	ENSP00000326238:N217S	N	+	2	0	CAPZA3	18783119	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.478000	0.66806	2.021000	0.59480	0.379000	0.24179	AAC	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401902.1		+	ENST00000317658.3	Missense_Mutation	SNP	12 : 18891852 - 18891852 G PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	250	8
CCDC70	83446	broad.mit.edu	37	13	52439917	52439917	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:52439917T>A	ENST00000242819.4	+	2	699	c.403T>A	c.(403-405)Ttc>Atc	p.F135I		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	135						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGATAAGGCCTTCTGGAAAGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	134	130			NA	NA	13		NA											NA				52439917		2203	4300	6503	SO:0001583	missense				CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171	83446	83446			25303	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_031290	NM_031290	NA	Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.403T>A	13.37:g.52439917T>A	ENSP00000242819:p.Phe135Ile	NA	Q8N7A8|Q9H097	37	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.949934	0.34377	.	.	ENSG00000123171	ENST00000242819	T	0.20738	2.05	5.78	-0.997	0.10215	.	0.097664	0.45606	D	0.000357	T	0.30230	0.0758	M	0.70595	2.14	0.09310	N	1	D	0.56287	0.975	P	0.53035	0.716	T	0.17077	-1.0381	10	0.42905	T	0.14	-25.4087	10.0609	0.42275	0.0:0.3629:0.0:0.6371	.	135	Q6NSX1	CCD70_HUMAN	I	135	ENSP00000242819:F135I	ENSP00000242819:F135I	F	+	1	0	CCDC70	51337918	0.963000	0.33076	0.000000	0.03702	0.005000	0.04900	1.723000	0.38053	-0.085000	0.12573	-0.256000	0.11100	TTC	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045033.2		+	ENST00000242819.4	Missense_Mutation	SNP	13 : 52439917 - 52439917 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	1168	51
CDT1	81620	broad.mit.edu	37	16	88871873	88871873	+	Missense_Mutation	SNP	C	C	T	rs3218727	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:88871873C>T	ENST00000301019.4	+	4	1133	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	172	Interaction with GMNN.		R -> C (in dbSNP:rs3218727).		DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGCCTACCAGCGCTTCCATGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(159;511 3380 30971)							NA				0								C	CYS/ARG	15,4381	22.3+/-47.3	1,13,2184	31	37	35		514	3.7	1	16	dbSNP_106	35	0,8590		0,0,4295	yes	missense	CDT1	NM_030928.3	180	1,13,6479	TT,TC,CC	NA	0.0,0.3412,0.1155	probably-damaging	172/547	88871873	15,12971	2198	4295	6493	SO:0001583	missense			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513	81620	81620			24576	protein-coding gene	gene with protein product		605525			NA	11896191, 11555648	Standard	NM_030928	NM_030928	NA	Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.514C>T	16.37:g.88871873C>T	ENSP00000301019:p.Arg172Cys	NA	Q86XX9|Q96CJ5|Q96GK5|Q96H67|Q96HE6|Q9BWM0	37	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644116	0.87859	0.003412	0.0	ENSG00000167513	ENST00000301019	T	0.28255	1.62	4.68	3.66	0.41972	.	0.111388	0.64402	D	0.000007	T	0.56217	0.1970	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64089	-0.6489	10	0.87932	D	0	-22.4772	15.3458	0.74337	0.0:0.8602:0.1398:0.0	rs3218727	172	Q9H211	CDT1_HUMAN	C	172	ENSP00000301019:R172C	ENSP00000301019:R172C	R	+	1	0	CDT1	87399374	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.838000	0.55828	2.319000	0.78375	0.462000	0.41574	CGC	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000423215.1		+	ENST00000301019.4	Missense_Mutation	SNP	16 : 88871873 - 88871873 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	348	9
CELF2	10659	broad.mit.edu	37	10	11363283	11363283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:11363283G>A	ENST00000315874.4	+	11	1442	c.1135G>A	c.(1135-1137)Gcg>Acg	p.A379T	CELF2_ENST00000427450.1_Missense_Mutation_p.A379T|CELF2_ENST00000542579.1_Missense_Mutation_p.A410T|CELF2_ENST00000354440.2_Missense_Mutation_p.A379T|CELF2_ENST00000608830.1_Missense_Mutation_p.A377T|CELF2_ENST00000416382.2_Missense_Mutation_p.A397T|CELF2_ENST00000417956.2_Missense_Mutation_p.A377T|CELF2_ENST00000450189.1_Missense_Mutation_p.A410T|CELF2_ENST00000399850.3_Missense_Mutation_p.A379T|CELF2_ENST00000537122.1_Missense_Mutation_p.A292T|CELF2_ENST00000609692.1_Missense_Mutation_p.A377T|CELF2_ENST00000354897.3_Missense_Mutation_p.A391T|CELF2_ENST00000379261.4_Missense_Mutation_p.A397T	NM_001025076.2|NM_001083591.1	NP_001020247.1|NP_001077060.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	NA	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGCAGCCGCCGCGCTGCCCAC	0.657		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	10		NA											NA				11363283		2062	4187	6249	SO:0001583	missense			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740	10659	10659		RNA binding motif (RRM) containing	2550	protein-coding gene	gene with protein product		602538	CUG triplet repeat, RNA-binding protein 2, CUG triplet repeat, RNA binding protein 2	CUGBP2	NA	7869393, 9887331	Standard		NM_006561	NA	Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000315874.4:c.1135G>A	10.37:g.11363283G>A	ENSP00000315328:p.Ala379Thr	NA	B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	37	CCDS41488.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318107	0.81469	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.33	5.33	0.75918	.	0.186321	0.32753	N	0.005686	T	0.79094	0.4388	M	0.62723	1.935	0.80722	D	1	P;P;B;D;P;D	0.76494	0.802;0.802;0.078;0.999;0.898;0.991	P;P;B;D;B;P	0.68621	0.471;0.471;0.029;0.959;0.378;0.776	T	0.73836	-0.3857	10	0.25106	T	0.35	-1.3418	19.2874	0.94084	0.0:0.0:1.0:0.0	.	385;403;398;410;410;397	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	T	397;397;410;410;379;377;379;379;387;379;292;203	ENSP00000368563:A397T;ENSP00000406451:A397T;ENSP00000389951:A410T;ENSP00000443926:A410T;ENSP00000382743:A379T;ENSP00000404834:A377T;ENSP00000315328:A379T;ENSP00000346426:A379T;ENSP00000388530:A379T;ENSP00000438884:A292T	ENSP00000315328:A379T	A	+	1	0	CELF2	11403289	1.000000	0.71417	0.344000	0.25628	0.982000	0.71751	9.591000	0.98241	2.789000	0.95967	0.558000	0.71614	GCG	CELF2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046758.2		+	ENST00000315874.4	Missense_Mutation	SNP	10 : 11363283 - 11363283 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	288	11
CHAT	1103	broad.mit.edu	37	10	50827783	50827783	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:50827783C>T	ENST00000337653.2	+	3	553	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Silent_p.L16L|CHAT_ENST00000339797.1_Silent_p.L16L|CHAT_ENST00000395562.2_Silent_p.L52L|CHAT_ENST00000455728.2_Silent_p.L16L|CHAT_ENST00000351556.3_Silent_p.L16L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	134					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCTGCCCAAACTGCCCGTGCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	42	45			NA	NA	10		NA											NA				50827783		2203	4300	6503	SO:0001819	synonymous_variant			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	1103	1103	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	choline acetyltransferase		NA	1840566	Standard	NM_020549	NM_020984	NA	Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.400C>T	10.37:g.50827783C>T		NA	A2BDF4|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	37	CCDS7232.1																																																																																			CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047997.1		+	ENST00000337653.2	Silent	SNP	10 : 50827783 - 50827783 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	182	11
COL6A6	131873	broad.mit.edu	37	3	130284081	130284081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:130284081G>A	ENST00000358511.6	+	3	936	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R302Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	302	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTTTCTCCCCGAACTGGGAAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	71	70			NA	NA	3		NA											NA				130284081		1860	4096	5956	SO:0001583	missense			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384	131873	131873		Collagens	27023	protein-coding gene	gene with protein product					NA		Standard	NM_001102608	NM_001102608	NA	Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.905G>A	3.37:g.130284081G>A	ENSP00000351310:p.Arg302Gln	NA	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.169073	0.01660	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78364	-1.17;-1.17	5.01	-2.32	0.06745	von Willebrand factor, type A (3);	1.188040	0.06089	N	0.663415	T	0.57036	0.2026	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38178	-0.9673	10	0.26408	T	0.33	.	12.8264	0.57723	0.4013:0.0:0.5987:0.0	.	302	A6NMZ7	CO6A6_HUMAN	Q	302	ENSP00000351310:R302Q;ENSP00000399236:R302Q	ENSP00000351310:R302Q	R	+	2	0	COL6A6	131766771	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.959000	0.03853	-0.497000	0.06641	-0.459000	0.05422	CGA	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356705.5		+	ENST00000358511.6	Missense_Mutation	SNP	3 : 130284081 - 130284081 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	429	11
CSH2	1443	broad.mit.edu	37	17	61949520	61949520	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:61949520T>A	ENST00000392886.2	-	5	771	c.620A>T	c.(619-621)cAg>cTg	p.Q207L	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.Q112L|CSH2_ENST00000560142.1_Missense_Mutation_p.Q150L	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	207					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						AGAGCGGCACTGCACCATGCG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	116	124			NA	NA	17		NA											NA				61949520		2203	4300	6503	SO:0001583	missense			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02					1443	1443			2441	protein-coding gene	gene with protein product	placental lactogen, chorionic somatomammotropin B	118820			NA	593368, 6208192	Standard	NM_020991	NM_020991	NA	Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.620A>T	17.37:g.61949520T>A	ENSP00000376623:p.Gln207Leu	NA	Q0VDB1|Q14407	37	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	14.32	2.499020	0.44455	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;T	0.90676	-2.71;0.93	3.97	2.88	0.33553	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.587450	0.04964	N	0.462618	D	0.95529	0.8547	M	0.85630	2.765	0.32011	N	0.602031	D;D;P	0.64830	0.994;0.994;0.728	D;D;B	0.74674	0.984;0.984;0.42	D	0.84470	0.0599	10	0.87932	D	0	.	8.0549	0.30600	0.0:0.101:0.0:0.899	.	207;207;112	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	L	112;207	ENSP00000308396:Q112L;ENSP00000376623:Q207L	ENSP00000308396:Q112L	Q	-	2	0	CSH2	59303252	1.000000	0.71417	0.999000	0.59377	0.018000	0.09664	3.847000	0.55895	0.570000	0.29347	0.379000	0.24179	CAG	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417657.1		-	ENST00000392886.2	Missense_Mutation	SNP	17 : 61949520 - 61949520 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	434	20
EPB41	2035	broad.mit.edu	37	1	29314163	29314163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:29314163C>T	ENST00000343067.4	+	2	341	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000373797.1_Missense_Mutation_p.R72W|EPB41_ENST00000373798.1_Missense_Mutation_p.R72W|EPB41_ENST00000398863.2_Missense_Mutation_p.R72W|EPB41_ENST00000347529.3_Missense_Mutation_p.R72W|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.R72W	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	72					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAACAAGGAGCGGACATCAGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	159	161			NA	NA	1		NA											NA				29314163		2203	4300	6503	SO:0001583	missense			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023	2035	2035			3377	protein-coding gene	gene with protein product		130500	elliptocytosis 1, RH-linked	EL1	NA		Standard	NM_203342	NM_001166005	NA	Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.214C>T	1.37:g.29314163C>T	ENSP00000345259:p.Arg72Trp	NA	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	37	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179746	0.78564	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.85258	-1.96;-1.95;-1.78;-1.69;-1.96;-1.94	5.6	5.6	0.85130	.	0.070962	0.56097	D	0.000035	D	0.89150	0.6633	L	0.32530	0.975	0.44500	D	0.997445	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.988;0.999;1.0;0.999	D	0.90061	0.4156	10	0.72032	D	0.01	.	18.6548	0.91448	0.0:1.0:0.0:0.0	.	72;72;72;72;72	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	W	89;72;72;72;72;72;72;72;72	ENSP00000345259:R72W;ENSP00000348397:R72W;ENSP00000381839:R72W;ENSP00000290100:R72W;ENSP00000362904:R72W;ENSP00000362903:R72W	ENSP00000345259:R72W	R	+	1	2	EPB41	29186750	0.998000	0.40836	0.978000	0.43139	0.926000	0.56050	3.068000	0.50018	2.633000	0.89246	0.650000	0.86243	CGG	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010312.1		+	ENST00000343067.4	Missense_Mutation	SNP	1 : 29314163 - 29314163 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	946	6
EWSR1	2130	broad.mit.edu	37	22	29695793	29695793	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:29695793A>C	ENST00000397938.2	+	16	2202	c.1883A>C	c.(1882-1884)cAg>cCg	p.Q628P	EWSR1_ENST00000331029.7_Missense_Mutation_p.Q590P|EWSR1_ENST00000414183.2_Missense_Mutation_p.Q633P|EWSR1_ENST00000332050.6_Missense_Mutation_p.Q555P|EWSR1_ENST00000332035.6_Missense_Mutation_p.Q572P|EWSR1_ENST00000406548.1_Missense_Mutation_p.Q627P	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	628	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGATGGAACAGATGGGAGGA	0.602		NA	T	FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1	Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		L, M	0													28	31	30			NA	NA	22		NA											NA				29695793		2203	4300	6503	SO:0001583	missense				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944	2130	2130		RNA binding motif (RRM) containing	3508	protein-coding gene	gene with protein product		133450	Ewing sarcoma breakpoint region 1		NA	1522903	Standard	NM_005243	NM_005243	NA	Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1883A>C	22.37:g.29695793A>C	ENSP00000381031:p.Gln628Pro	NA	Q5THL0|Q92635	37	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991921	0.54041	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	D;D;D;D;D;D	0.96522	-3.95;-3.43;-3.57;-4.04;-3.57;-3.42	5.17	5.17	0.71159	.	0.000000	0.49305	U	0.000144	D	0.94997	0.8381	L	0.36672	1.1	0.41806	D	0.989942	D;D;D;D;D	0.61080	0.989;0.963;0.963;0.963;0.963	P;B;B;B;B	0.50825	0.651;0.425;0.425;0.425;0.425	D	0.94641	0.7830	10	0.39692	T	0.17	.	15.0248	0.71659	1.0:0.0:0.0:0.0	.	572;627;572;633;628	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.;.;.;.;EWS_HUMAN	P	555;628;627;590;633;572	ENSP00000330896:Q555P;ENSP00000381031:Q628P;ENSP00000385726:Q627P;ENSP00000330516:Q590P;ENSP00000400142:Q633P;ENSP00000331699:Q572P	ENSP00000330516:Q590P	Q	+	2	0	EWSR1	28025793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.616000	0.61197	1.946000	0.56461	0.455000	0.32223	CAG	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321345.1		+	ENST00000397938.2	Missense_Mutation	SNP	22 : 29695793 - 29695793 C PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	110	5
FIGN	55137	broad.mit.edu	37	2	164466495	164466495	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:164466495A>G	ENST00000333129.3	-	3	2161	c.1847T>C	c.(1846-1848)gTa>gCa	p.V616A	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	616						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGAAGTTAGTACAGTGTCCAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	110	112			NA	NA	2		NA											NA				164466495		1958	4157	6115	SO:0001583	missense			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263	55137	55137		ATPases / AAA-type	13285	protein-coding gene	gene with protein product		605295			NA	11017077	Standard	NM_018086	XM_005246661	NA	Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1847T>C	2.37:g.164466495A>G	ENSP00000333836:p.Val616Ala	NA	B3KWM0|Q9H6M5|Q9NVZ9	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	A	4.122	0.020814	0.08006	.	.	ENSG00000182263	ENST00000333129	D	0.94897	-3.55	5.77	5.77	0.91146	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.062004	0.64402	D	0.000004	D	0.93324	0.7872	L	0.27975	0.815	0.58432	D	0.999999	P	0.41366	0.747	P	0.55161	0.77	D	0.90675	0.4601	10	0.08837	T	0.75	-17.6067	16.0953	0.81117	1.0:0.0:0.0:0.0	.	616	Q5HY92	FIGN_HUMAN	A	616	ENSP00000333836:V616A	ENSP00000333836:V616A	V	-	2	0	FIGN	164174741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.116000	0.71571	2.204000	0.70986	0.383000	0.25322	GTA	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157220.2		-	ENST00000333129.3	Missense_Mutation	SNP	2 : 164466495 - 164466495 G PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	481	13
FILIP1	27145	broad.mit.edu	37	6	76022448	76022448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:76022448G>A	ENST00000393004.2	-	5	3321	c.3100C>T	c.(3100-3102)Cgg>Tgg	p.R1034W	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R935W|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1034W			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1034										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGATTGTCCGTCCCATGGGC	0.468		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	7e-04	SNP								NA				0								G	TRP/ARG	0,4406		0,0,2203	195	198	197		3100	4.9	1	6		197	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FILIP1	NM_015687.2	101	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	1034/1214	76022448	2,13004	2203	4300	6503	SO:0001583	missense			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407	27145	27145			21015	protein-coding gene	gene with protein product		607307			NA	10574462	Standard	XM_029179	XM_005248713	NA	Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000393004.2:c.3100C>T	6.37:g.76022448G>A	ENSP00000376728:p.Arg1034Trp	NA	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.48	3.632208	0.67015	0.0	2.33E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21543	2.0;2.0;2.01	6.03	4.88	0.63580	.	0.090765	0.64402	D	0.000001	T	0.29458	0.0734	L	0.55481	1.735	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.994	T	0.07347	-1.0777	10	0.72032	D	0.01	-28.613	12.2258	0.54459	0.0:0.0:0.2831:0.7169	.	1034;1034;1034	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	1034;1034;935	ENSP00000376728:R1034W;ENSP00000237172:R1034W;ENSP00000359037:R935W	ENSP00000237172:R1034W	R	-	1	2	FILIP1	76079168	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.142000	0.42177	1.110000	0.41699	-0.262000	0.10625	CGG	FILIP1-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000471226.1		-	ENST00000393004.2	Missense_Mutation	SNP	6 : 76022448 - 76022448 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	937	7
GRIN2A	2903	broad.mit.edu	37	16	9862737	9862737	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:9862737G>A	ENST00000396573.2	-	13	2875	c.2566C>T	c.(2566-2568)Cgg>Tgg	p.R856W	GRIN2A_ENST00000404927.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R856W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R856W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R699W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	856					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACCCAGGCCGGTCGGAGCAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	94	93			NA	NA	16		NA											NA				9862737		2197	4300	6497	SO:0001583	missense				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454	NA	2903		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4585	protein-coding gene	gene with protein product		138253		NMDAR2A	NA	9480759	Standard		XM_005255267	NA	Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2566C>T	16.37:g.9862737G>A	ENSP00000379818:p.Arg856Trp	NA	O00669	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066263	0.76187	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	4.44	3.33	0.38152	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.155509	0.56097	D	0.000031	T	0.28928	0.0718	M	0.64997	1.995	0.37896	D	0.930866	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70016	0.944;0.967;0.913	T	0.04885	-1.0920	9	.	.	.	.	9.4317	0.38615	0.0:0.0:0.5699:0.4301	.	699;856;856	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	W	856;856;699;856;856	ENSP00000379818:R856W;ENSP00000385872:R856W;ENSP00000441572:R699W;ENSP00000332549:R856W;ENSP00000379820:R856W	.	R	-	1	2	GRIN2A	9770238	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.673000	0.61604	2.170000	0.68504	0.563000	0.77884	CGG	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251930.3		-	ENST00000396573.2	Missense_Mutation	SNP	16 : 9862737 - 9862737 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	813	17
HELZ2	85441	broad.mit.edu	37	20	62196606	62196606	+	Missense_Mutation	SNP	C	C	T	rs77862413	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:62196606C>T	ENST00000467148.1	-	8	3638	c.3569G>A	c.(3568-3570)cGc>cAc	p.R1190H	HELZ2_ENST00000427522.2_Missense_Mutation_p.R621H	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator	NA											NA						GCCCAGCACGCGGCCCCGAAG	0.682		NA											C	2	9e-04	0.0041	NA	2184	NA	0.9994	,	,	NA	4e-04	NA	NA	NA	0.0012	0.7809	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	HIS/ARG,HIS/ARG	11,4343		0,11,2166	15	15	15		3569,1862	3.7	0.7	20	dbSNP_131	15	0,8582		0,0,4291	no	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	29,29	0,11,6457	TT,TC,CC	NA	0.0,0.2526,0.085	benign,benign	1190/2650,621/2081	62196606	11,12925	2177	4291	6468	SO:0001583	missense			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589	85441	85441			30021	protein-coding gene	gene with protein product	peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1	611265			NA	11214970, 12189208, 16239304	Standard	NM_001037335	NM_001037335	NA	Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3569G>A	20.37:g.62196606C>T	ENSP00000417401:p.Arg1190His	NA		37	CCDS33508.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.26	2.184958	0.38609	0.002526	0.0	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.22336	1.96;1.96	4.63	3.66	0.41972	.	1.242450	0.05472	N	0.553324	T	0.38214	0.1032	L	0.50333	1.59	0.19575	N	0.999968	D;D	0.69078	0.995;0.997	P;P	0.59424	0.723;0.857	T	0.15178	-1.0446	10	0.72032	D	0.01	-9.0358	9.3247	0.37986	0.1441:0.7774:0.0:0.0785	.	1190;621	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	H	621;1190	ENSP00000393257:R621H;ENSP00000417401:R1190H	ENSP00000393257:R621H	R	-	2	0	RP4-697K14.7	61667050	0.107000	0.21998	0.708000	0.30435	0.027000	0.11550	1.982000	0.40638	0.911000	0.36747	-0.500000	0.04577	CGC	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354127.1		-	ENST00000467148.1	Missense_Mutation	SNP	20 : 62196606 - 62196606 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	84	33
HSD17B2	3294	broad.mit.edu	37	16	82131809	82131809	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:82131809A>G	ENST00000199936.4	+	5	1125	c.932A>G	c.(931-933)aAc>aGc	p.N311S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	311					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CTATTGATCAACTCGTTAGCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	132	146			NA	NA	16		NA											NA				82131809		2201	4300	6501	SO:0001583	missense				CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	3294	3294	1.1.1.62	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2	5211	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 9C, member 2	109685			NA	7759109, 19027726	Standard	NM_002153	NM_002153	NA	Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.932A>G	16.37:g.82131809A>G	ENSP00000199936:p.Asn311Ser	NA	B2R7T4	37	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	a	5.085	0.201396	0.09652	.	.	ENSG00000086696	ENST00000199936	D	0.83419	-1.72	5.57	-9.36	0.00629	NAD(P)-binding domain (1);	2.782280	0.00732	N	0.000947	T	0.56645	0.1999	N	0.11064	0.09	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.57740	-0.7759	10	0.08837	T	0.75	.	0.9019	0.01276	0.281:0.2882:0.2436:0.1872	.	311	P37059	DHB2_HUMAN	S	311	ENSP00000199936:N311S	ENSP00000199936:N311S	N	+	2	0	HSD17B2	80689310	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.845000	0.01677	-1.859000	0.01156	0.533000	0.62120	AAC	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269057.2		+	ENST00000199936.4	Missense_Mutation	SNP	16 : 82131809 - 82131809 G PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	502	20
HSP90B1	7184	broad.mit.edu	37	12	104327988	104327988	+	Silent	SNP	C	C	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:104327988C>A	ENST00000299767.5	+	5	848	c.666C>A	c.(664-666)atC>atA	p.I222I		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	222					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCCAGCACATCTGGGAGTCTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	12		NA											NA				104327988		2203	4300	6503	SO:0001819	synonymous_variant			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598	7184	7184		Heat shock proteins / HSPC	12028	protein-coding gene	gene with protein product		191175	tumor rejection antigen (gp96) 1	TRA1	NA	16269234	Standard	NM_003299	NM_003299	NA	Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.666C>A	12.37:g.104327988C>A		NA	Q96A97	37	CCDS9094.1																																																																																			HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407349.1		+	ENST00000299767.5	Silent	SNP	12 : 104327988 - 104327988 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	276	11
IL16	3603	broad.mit.edu	37	15	81592482	81592482	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:81592482G>A	ENST00000394660.2	+	14	3175	c.2815G>A	c.(2815-2817)Gac>Aac	p.D939N	IL16_ENST00000394652.2_Missense_Mutation_p.D238N|IL16_ENST00000302987.4_Missense_Mutation_p.D939N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	939					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCCTGGCCCGGACCCGCTCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	33	31			NA	NA	15		NA											NA				81592482		2203	4300	6503	SO:0001583	missense			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349	3603	3603		Interleukins and interleukin receptors	5980	protein-coding gene	gene with protein product	prointerleukin 16, lymphocyte chemoattractant factor	603035	interleukin 16 (lymphocyte chemoattractant factor)		NA	9144227	Standard	NM_172217	NM_004513	NA	Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000394660.2:c.2815G>A	15.37:g.81592482G>A	ENSP00000378155:p.Asp939Asn	NA	A6NM20|A8MU65|B9EGR6|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	37	CCDS53966.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211166	0.79240	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.11495	2.77;2.78;3.37	4.85	4.85	0.62838	.	0.267702	0.26731	N	0.022788	T	0.24928	0.0605	L	0.46157	1.445	0.36294	D	0.856591	D;D;D;D;B;D	0.89917	0.997;0.965;1.0;1.0;0.166;0.991	P;P;D;D;B;P	0.83275	0.844;0.703;0.994;0.996;0.017;0.798	T	0.08126	-1.0737	10	0.62326	D	0.03	.	11.7533	0.51862	0.0853:0.0:0.9147:0.0	.	771;432;476;329;939;939	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	N	939;771;939;476;329;238;238	ENSP00000378155:D939N;ENSP00000302935:D939N;ENSP00000378147:D238N	ENSP00000302935:D939N	D	+	1	0	IL16	79379537	0.986000	0.35501	0.367000	0.25926	0.037000	0.13140	3.537000	0.53590	2.236000	0.73375	0.655000	0.94253	GAC	IL16-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000291391.4		+	ENST00000394660.2	Missense_Mutation	SNP	15 : 81592482 - 81592482 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	296	6
KIAA0100	9703	broad.mit.edu	37	17	26946933	26946933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:26946933C>T	ENST00000528896.2	-	30	5539	c.5465G>A	c.(5464-5466)cGg>cAg	p.R1822Q	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1679Q|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1679Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1822						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACATGCTGCCGCACAGCCTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	91	94			NA	NA	17		NA											NA				26946933		2203	4300	6503	SO:0001583	missense			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202	9703	9703			28960	protein-coding gene	gene with protein product	cancer/testis antigen 101, breast cancer overexpressed gene 1	610664			NA	16289875	Standard	NM_014680	NM_014680	NA	Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5465G>A	17.37:g.26946933C>T	ENSP00000436773:p.Arg1822Gln	NA	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208479	0.95069	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.53423	0.62;0.62	5.53	5.53	0.82687	FMP27,  C-terminal (1);	0.051185	0.64402	D	0.000001	T	0.71576	0.3356	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69826	-0.5040	10	0.38643	T	0.18	.	19.4358	0.94794	0.0:1.0:0.0:0.0	.	1822	Q14667	K0100_HUMAN	Q	1822;1792;1822;1679	ENSP00000436773:R1822Q;ENSP00000446443:R1679Q	ENSP00000005905:R1822Q	R	-	2	0	KIAA0100	23971060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.448000	0.66612	2.768000	0.95171	0.655000	0.94253	CGG	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390571.3		-	ENST00000528896.2	Missense_Mutation	SNP	17 : 26946933 - 26946933 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	383	13
KIAA1045	23349	broad.mit.edu	37	9	34971580	34971580	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:34971580G>T	ENST00000242315.3	+	2	367	c.285G>T	c.(283-285)agG>agT	p.R95S	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R95S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	95							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGTTTGACAGGACAAGTCGAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	121	116			NA	NA	9		NA											NA				34971580		2011	4162	6173	SO:0001583	missense			AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733	23349	23349			29180	protein-coding gene	gene with protein product					NA	10470851	Standard	XM_048592	NM_015297	NA	Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.285G>T	9.37:g.34971580G>T	ENSP00000242315:p.Arg95Ser	NA	B7Z253|Q58FE9|Q5T662	37	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.510166	0.27036	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	6.03	2.92	0.33932	.	0.366196	0.29046	N	0.013305	T	0.28134	0.0694	L	0.36672	1.1	0.21220	N	0.99976	B	0.19200	0.034	B	0.18561	0.022	T	0.13683	-1.0500	8	.	.	.	-9.928	6.5955	0.22669	0.2802:0.0:0.5903:0.1295	.	95	Q9UPV7	K1045_HUMAN	S	95	.	.	R	+	3	2	KIAA1045	34961580	0.710000	0.27896	0.619000	0.29118	0.132000	0.20833	-0.067000	0.11579	0.885000	0.36088	0.655000	0.94253	AGG	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052256.2		+	ENST00000242315.3	Missense_Mutation	SNP	9 : 34971580 - 34971580 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	1758	11
KNDC1	85442	broad.mit.edu	37	10	134997481	134997481	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:134997481G>A	ENST00000304613.3	+	5	634	c.613G>A	c.(613-615)Gga>Aga	p.G205R	KNDC1_ENST00000368572.2_Missense_Mutation_p.G205R|KNDC1_ENST00000368571.2_Missense_Mutation_p.G140R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	205	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGAGTCCTTCGGAGCGCTGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	128	137			NA	NA	10		NA											NA				134997481		2203	4300	6503	SO:0001583	missense			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798	85442	85442			29374	protein-coding gene	gene with protein product			RasGEF domain family, member 2	RASGEF2, C10orf23	NA	11214970	Standard	NM_152643	NM_152643	NA	Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.613G>A	10.37:g.134997481G>A	ENSP00000304437:p.Gly205Arg	NA	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494056	0.64186	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.20598	2.54;2.54;2.06	4.15	4.15	0.48705	KIND (2);	0.492334	0.17935	U	0.157032	T	0.41766	0.1173	L	0.57536	1.79	0.38641	D	0.951614	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.41520	-0.9504	10	0.87932	D	0	-17.3865	12.7092	0.57080	0.0:0.0:1.0:0.0	.	140;205	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	R	205;205;140	ENSP00000304437:G205R;ENSP00000357561:G205R;ENSP00000357560:G140R	ENSP00000304437:G205R	G	+	1	0	KNDC1	134847471	0.995000	0.38212	0.998000	0.56505	0.682000	0.39822	3.501000	0.53325	2.255000	0.74692	0.450000	0.29827	GGA	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277044.3		+	ENST00000304613.3	Missense_Mutation	SNP	10 : 134997481 - 134997481 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	304	13
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	0	0
MFSD9	84804	broad.mit.edu	37	2	103335481	103335481	+	Missense_Mutation	SNP	G	G	A	rs144200432	by1000genomes	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:103335481G>A	ENST00000258436.5	-	6	866	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	275					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TTCATGTTCCGCAAGGCCAAC	0.557		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													99	79	86			NA	NA	2		NA											NA				103335481		2203	4300	6503	SO:0001583	missense				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953	84804	84804			28158	protein-coding gene	gene with protein product					NA		Standard	NM_032718	NM_032718	NA	Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.823C>T	2.37:g.103335481G>A	ENSP00000258436:p.Arg275Trp	NA	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	37	CCDS2063.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.25	2.181450	0.38511	.	.	ENSG00000135953	ENST00000258436	D	0.83250	-1.7	4.97	1.47	0.22746	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.665977	0.15409	N	0.263908	T	0.71745	0.3376	L	0.34521	1.04	0.09310	N	1	B	0.18013	0.025	B	0.17098	0.017	T	0.62062	-0.6933	10	0.52906	T	0.07	-5.4226	7.0595	0.25117	0.0938:0.0:0.3214:0.5847	.	275	Q8NBP5	MFSD9_HUMAN	W	275	ENSP00000258436:R275W	ENSP00000258436:R275W	R	-	1	2	MFSD9	102701913	0.437000	0.25593	0.068000	0.19968	0.045000	0.14185	1.372000	0.34261	0.571000	0.29365	0.644000	0.83932	CGG	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253295.2		-	ENST00000258436.5	Missense_Mutation	SNP	2 : 103335481 - 103335481 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	432	7
NUFIP2	57532	broad.mit.edu	37	17	27613833	27613833	+	Silent	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:27613833T>C	ENST00000225388.4	-	2	1237	c.1179A>G	c.(1177-1179)caA>caG	p.Q393Q	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	393	Ser-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GACTTGATGATTGGGTCTGAG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	142	141			NA	NA	17		NA											NA				27613833		2203	4300	6503	SO:0001819	synonymous_variant			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256	57532	57532			17634	protein-coding gene	gene with protein product		609356			NA	12837692, 16407062	Standard	NM_020772	NM_020772	NA	Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1179A>G	17.37:g.27613833T>C		NA	Q9P2M5	37	CCDS32600.1																																																																																			NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447015.2		-	ENST00000225388.4	Silent	SNP	17 : 27613833 - 27613833 C PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	755	57
OR5D18	219438	broad.mit.edu	37	11	55587727	55587727	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:55587727G>T	ENST00000333976.4	+	1	642	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACCTTTAATGAAATCAGCAC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	162	173			NA	NA	11		NA											NA				55587727		2200	4296	6496	SO:0001587	stop_gained			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119	219438	219438		GPCR / Class A : Olfactory receptors	15285	protein-coding gene	gene with protein product					NA		Standard	NM_001001952	NM_001001952	NA	Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.622G>T	11.37:g.55587727G>T	ENSP00000335025:p.Glu208*	NA	Q6IF67|Q6IFD3|Q96RB3	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	10.04	1.242711	0.22796	.	.	ENSG00000186119	ENST00000333976	.	.	.	4.85	3.92	0.45320	.	1.005710	0.08015	N	0.991100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.2984	7.6562	0.28377	0.0887:0.0:0.7453:0.166	.	.	.	.	X	208	.	ENSP00000335025:E208X	E	+	1	0	OR5D18	55344303	0.000000	0.05858	0.891000	0.34965	0.219000	0.24729	0.634000	0.24614	2.462000	0.83206	0.567000	0.79289	GAA	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391515.1		+	ENST00000333976.4	Nonsense_Mutation	SNP	11 : 55587727 - 55587727 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	494	14
P2RY8	286530	broad.mit.edu	37	X	1584602	1584602	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:1584602G>T	ENST00000381297.4	-	2	1060	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	284						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				CAGTTGTTGAGGCAGCTGAGA	0.587		NA	T	CRLF2	B-ALL, Downs associated ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		X,Y	Xp22.3; Yp11.3	286530	purinergic receptor P2Y, G-protein coupled, 8		L	0													119	117	118			NA	NA	X		NA											NA				1584602		2203	4296	6499	SO:0001583	missense			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162	286530	286530		Pseudoautosomal regions / PAR1, Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	15524	protein-coding gene	gene with protein product		300525			NA	11004484	Standard	NM_178129	NM_178129	NA	Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.850C>A	X.37:g.1584602G>T	ENSP00000370697:p.Leu284Ile	NA		37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.724334	0.30593	.	.	ENSG00000182162	ENST00000381297	T	0.20598	2.06	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.191682	0.34110	U	0.004251	T	0.18551	0.0445	L	0.52759	1.655	0.09310	N	1	B	0.33494	0.414	B	0.38327	0.271	T	0.11275	-1.0594	10	0.23891	T	0.37	.	6.3011	0.21113	0.3491:0.0:0.6509:0.0	.	284	Q86VZ1	P2RY8_HUMAN	I	284	ENSP00000370697:L284I	ENSP00000370697:L284I	L	-	1	0	P2RY8	1544602	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	0.594000	0.24014	1.007000	0.39238	0.279000	0.19357	CTC	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055602.1		-	ENST00000381297.4	Missense_Mutation	SNP	X : 1584602 - 1584602 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	550	21
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	103	101			NA	NA	2		NA											NA				109371498		2198	4282	6480	SO:0001819	synonymous_variant			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1																																																																																			RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Silent	SNP	2 : 109371498 - 109371498 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	1013	9
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	endometrium(6)											164	133	142			NA	NA	2		NA											NA				107049681		692	1590	2282	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107049681 - 107049681 C PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	1351	8
RNF213	57674	broad.mit.edu	37	17	78363984	78363984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:78363984G>A	ENST00000508628.2	+	68	15750	c.15605G>A	c.(15604-15606)cGc>cAc	p.R5202H	RNF213_ENST00000582970.1_Missense_Mutation_p.R5153H|RNF213_ENST00000336301.6_Missense_Mutation_p.R3226H|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA			Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGCGCTTCCGCCCTCAGTGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	66	63			NA	NA	17		NA											NA				78363984		2202	4299	6501	SO:0001583	missense			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.15605G>A	17.37:g.78363984G>A	ENSP00000425956:p.Arg5202His	NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37		.	.	.	.	.	.	.	.	.	.	G	9.024	0.985660	0.18889	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T;T	0.23147	1.95;1.92	5.67	2.26	0.28386	.	0.954721	0.08773	N	0.896005	T	0.17704	0.0425	L	0.43152	1.355	0.20926	N	0.999826	D;P	0.53619	0.961;0.713	B;B	0.35240	0.198;0.139	T	0.16305	-1.0407	10	0.44086	T	0.13	.	6.2579	0.20884	0.6156:0.1201:0.2643:0.0	.	5153;3226	D6RI12;Q63HN8	.;RN213_HUMAN	H	5153;5202;3226;503	ENSP00000425956:R5153H;ENSP00000338218:R3226H	ENSP00000338218:R3226H	R	+	2	0	RNF213	75978579	0.010000	0.17322	0.026000	0.17262	0.011000	0.07611	0.138000	0.16016	0.092000	0.17331	-0.294000	0.09567	CGC	RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Missense_Mutation	SNP	17 : 78363984 - 78363984 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	650	27
RPRD1B	58490	broad.mit.edu	37	20	36694636	36694636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:36694636C>T	ENST00000373433.4	+	6	1211	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	270										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GATGTTTTGTCGGAGAAGGAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	86	82			NA	NA	20		NA											NA				36694636		2203	4300	6503	SO:0001583	missense			AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413	58490	58490			16209	protein-coding gene	gene with protein product		614694	chromosome 20 open reading frame 77	C20orf77	NA	22231121	Standard	NM_021215	NM_021215	NA	Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.809C>T	20.37:g.36694636C>T	ENSP00000362532:p.Ser270Leu	NA	Q1WDE7|Q6PKF4	37	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538823	0.45176	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.35	5.35	0.76521	.	0.313199	0.35207	N	0.003367	T	0.45377	0.1339	L	0.27053	0.805	0.41599	D	0.988848	B	0.13594	0.008	B	0.10450	0.005	T	0.30208	-0.9986	9	0.39692	T	0.17	-5.9908	14.2206	0.65823	0.0:0.851:0.149:0.0	.	270	Q9NQG5	RPR1B_HUMAN	L	270;152	.	ENSP00000362532:S270L	S	+	2	0	RPRD1B	36128050	0.996000	0.38824	1.000000	0.80357	0.966000	0.64601	0.953000	0.29162	2.941000	0.99782	0.655000	0.94253	TCG	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079142.2		+	ENST00000373433.4	Missense_Mutation	SNP	20 : 36694636 - 36694636 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	480	12
SBK1	388228	broad.mit.edu	37	16	28331735	28331735	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:28331735G>A	ENST00000341901.4	+	4	1557	c.768G>A	c.(766-768)gcG>gcA	p.A256A		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	256	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GGGAGGCGGCGTCGGGCGCCG	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	21	18			NA	NA	16		NA											NA				28331735		2083	4197	6280	SO:0001819	synonymous_variant				CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322	388228	388228			17699	protein-coding gene	gene with protein product			SH3-binding domain kinase 1		NA		Standard	XM_370948	XM_005255315	NA	Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.768G>A	16.37:g.28331735G>A		NA		37	CCDS32416.1																																																																																			SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387677.1		+	ENST00000341901.4	Silent	SNP	16 : 28331735 - 28331735 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	211	13
SEPT14	346288	broad.mit.edu	37	7	55872990	55872990	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:55872990G>A	ENST00000388975.3	-	9	1196	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	360					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTTCTCCTTGACTCGCTGCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	115	115			NA	NA	7		NA											NA				55872990		2202	4297	6499	SO:0001819	synonymous_variant			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997	346288	346288		Septins	33280	protein-coding gene	gene with protein product		612140			NA		Standard	NM_207366	NM_207366	NA	Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1080C>T	7.37:g.55872990G>A		NA	A6NCC2|B4DXD6	37	CCDS5519.2																																																																																			SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251489.2		-	ENST00000388975.3	Silent	SNP	7 : 55872990 - 55872990 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	201	6
SHROOM3	57619	broad.mit.edu	37	4	77661903	77661903	+	Silent	SNP	C	C	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:77661903C>G	ENST00000296043.6	+	5	3530	c.2577C>G	c.(2575-2577)tcC>tcG	p.S859S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	859					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AAGAGGCTTCCCGGCAGCCCT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	35			NA	NA	4		NA											NA				77661903		2201	4295	6496	SO:0001819	synonymous_variant			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771	57619	57619			30422	protein-coding gene	gene with protein product		604570			NA	10589677, 16615870	Standard	NM_020859	NM_020859	NA	Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2577C>G	4.37:g.77661903C>G		NA	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	37	CCDS3579.2																																																																																			SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252408.2		+	ENST00000296043.6	Silent	SNP	4 : 77661903 - 77661903 G PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	369	13
SLC7A3	84889	broad.mit.edu	37	X	70146816	70146816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:70146816C>A	ENST00000374299.3	-	9	1506	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E454D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	454					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGTCAACTTCTCTGATTCAG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	116	119			NA	NA	X		NA											NA				70146816		2203	4300	6503	SO:0001583	missense			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349	84889	84889		Solute carriers	11061	protein-coding gene	gene with protein product		300443			NA	11591158	Standard	NM_032803	NM_001048164	NA	Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1362G>T	X.37:g.70146816C>A	ENSP00000363417:p.Glu454Asp	NA	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114898	0.20795	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88664	-2.41;-2.41	5.31	2.39	0.29439	.	0.537794	0.13865	U	0.357372	D	0.86301	0.5900	L	0.46157	1.445	0.09310	N	0.999999	B	0.23650	0.089	B	0.35727	0.209	T	0.76189	-0.3050	10	0.44086	T	0.13	.	9.0769	0.36527	0.0:0.7342:0.0:0.2658	.	454	Q8WY07	CTR3_HUMAN	D	454	ENSP00000363417:E454D;ENSP00000298085:E454D	ENSP00000298085:E454D	E	-	3	2	SLC7A3	70063541	0.579000	0.26725	0.881000	0.34555	0.226000	0.24999	0.230000	0.17852	0.158000	0.19367	0.529000	0.55759	GAG	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057080.1		-	ENST00000374299.3	Missense_Mutation	SNP	X : 70146816 - 70146816 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	313	17
SMPD4	55627	broad.mit.edu	37	2	130912778	130912778	+	Silent	SNP	A	A	G	rs149268431	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:130912778A>G	ENST00000409031.1	-	15	2609	c.1461T>C	c.(1459-1461)ttT>ttC	p.F487F	SMPD4_ENST00000339679.7_Silent_p.F345F|SMPD4_ENST00000453750.1_Silent_p.F236F|SMPD4_ENST00000426662.2_Silent_p.F123F|SMPD4_ENST00000431183.2_Silent_p.F385F|SMPD4_ENST00000452225.2_Silent_p.F228F|SMPD4_ENST00000351288.6_Silent_p.F458F|SMPD4_ENST00000443958.2_Silent_p.F151F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	448					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CGCGGTTCAGAAAGCCCACAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	89	92			NA	NA	2		NA											NA				130912778		2203	4300	6503	SO:0001819	synonymous_variant			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699	55627	55627			32949	protein-coding gene	gene with protein product		610457			NA	16517606	Standard	NM_017751	NM_001171083	NA	Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1461T>C	2.37:g.130912778A>G		NA	Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	37	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	2.815|2.815	-0.246012|-0.246012	0.05906|0.05906	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886|ENST00000430682	.|.	.|.	.|.	4.24|4.24	0.732|0.732	0.18283|0.18283	.|.	0.052113|.	0.85682|.	D|.	0.000000|.	T|T	0.57373|0.57373	0.2049|0.2049	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49854|0.49854	-0.8895|-0.8895	6|4	0.54805|.	T|.	0.06|.	.|.	9.4799|9.4799	0.38895|0.38895	0.3955:0.0:0.6045:0.0|0.3955:0.0:0.6045:0.0	.|.	.|.	.|.	.|.	S|P	362|169	.|.	ENSP00000401648:F362S|.	F|S	-|-	2|1	0|0	SMPD4|SMPD4	130629248|130629248	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.078000|0.078000	0.17371|0.17371	1.128000|1.128000	0.31369|0.31369	-0.037000|-0.037000	0.13646|0.13646	-0.684000|-0.684000	0.03749|0.03749	TTC|TCT	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254516.3		-	ENST00000409031.1	Silent	SNP	2 : 130912778 - 130912778 G PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	481	45
SNAP47	116841	broad.mit.edu	37	1	227968309	227968309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:227968309G>A	ENST00000366759.4	+	5	1744	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	SNAP47_ENST00000366760.1_Missense_Mutation_p.A202T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	444	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGCGTTGCAGCAGCTGTGGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	115	126			NA	NA	1		NA											NA				227968309		2203	4300	6503	SO:0001583	missense			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740	116841	116841			30669	protein-coding gene	gene with protein product			chromosome 1 open reading frame 142	C1orf142	NA	16621800	Standard	NM_053052	NM_053052	NA	Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1330G>A	1.37:g.227968309G>A	ENSP00000355721:p.Ala444Thr	NA	B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	37	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.565409	0.00903	.	.	ENSG00000143740	ENST00000366760;ENST00000366759	T;T	0.42513	0.97;2.28	4.67	-2.54	0.06307	Target SNARE coiled-coil domain (1);	0.884135	0.10124	N	0.713045	T	0.17109	0.0411	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.28681	-1.0036	10	0.10636	T	0.68	-15.287	4.493	0.11822	0.3799:0.0:0.2016:0.4185	.	444	Q5SQN1	SNP47_HUMAN	T	202;444	ENSP00000355722:A202T;ENSP00000355721:A444T	ENSP00000355721:A444T	A	+	1	0	SNAP47	226034932	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.403000	0.07214	-0.674000	0.05253	-0.258000	0.10820	GCA	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091961.1		+	ENST00000366759.4	Missense_Mutation	SNP	1 : 227968309 - 227968309 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	335	5
SNX21	90203	broad.mit.edu	37	20	44469465	44469465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:44469465G>A	ENST00000372542.1	+	3	920	c.608G>A	c.(607-609)cGt>cAt	p.R203H	SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R212H|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron			Q969T3	SNX21_HUMAN	sorting nexin family member 21	212	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				ATTGCCCGCCGTAGCCGGGCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	48	45			NA	NA	20		NA											NA				44469465		2202	4296	6498	SO:0001583	missense			AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104	90203	90203		Sorting nexins, Tetratricopeptide (TTC) repeat domain containing	16154	protein-coding gene	gene with protein product			chromosome 20 open reading frame 161	C20orf161	NA	12461558, 12459172	Standard	NM_033421	NM_152897	NA	Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000372542.1:c.608G>A	20.37:g.44469465G>A	ENSP00000361620:p.Arg203His	NA	Q5JZH6|Q9BR16	37		.	.	.	.	.	.	.	.	.	.	G	27.4	4.829655	0.91036	.	.	ENSG00000124104	ENST00000491381;ENST00000372542	T;T	0.61392	0.11;0.11	4.32	4.32	0.51571	Phox homologous domain (5);	0.057521	0.64402	D	0.000002	T	0.79557	0.4466	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84538	0.0637	10	0.87932	D	0	-11.7488	15.9699	0.80004	0.0:0.0:1.0:0.0	.	203;212	Q5JZH3;Q969T3	.;SNX21_HUMAN	H	212;203	ENSP00000418593:R212H;ENSP00000361620:R203H	ENSP00000361620:R203H	R	+	2	0	SNX21	43902872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.801000	0.91905	2.249000	0.74217	0.462000	0.41574	CGT	SNX21-003	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000079527.1		+	ENST00000372542.1	Missense_Mutation	SNP	20 : 44469465 - 44469465 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	366	5
SPOCK1	6695	broad.mit.edu	37	5	136403476	136403476	+	Missense_Mutation	SNP	C	C	T	rs139465331	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:136403476C>T	ENST00000394945.1	-	6	686	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	SPOCK1_ENST00000282223.7_Missense_Mutation_p.A173T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	173	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGAGGGTGGCGAGGCTTTTG	0.527		NA											T	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.8999	EXOME	NA	NA	3e-04	SNP								NA				0								T	THR/ALA	2,4404	826.0+/-416.6	0,2,2201	153	138	143		517	1.5	0.8	5	dbSNP_134	143	8,8592	818.9+/-406.8	0,8,4292	yes	missense	SPOCK1	NM_004598.3	58	0,10,6493	TT,TC,CC	NA	0.093,0.0454,0.0769	benign	173/440	136403476	10,12996	2203	4300	6503	SO:0001583	missense			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377	6695	6695			11251	protein-coding gene	gene with protein product		602264	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)	TIC1, SPOCK	NA	9545645	Standard	NM_004598	NM_004598	NA	Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.517G>A	5.37:g.136403476C>T	ENSP00000378401:p.Ala173Thr	NA	B3KSW3|Q59EW0|Q8N630|Q9UCL8	37	CCDS4191.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	8.496	0.863193	0.17250	4.54E-4	9.3E-4	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000510689	T;T;T	0.03951	3.75;3.75;3.75	5.29	1.53	0.23141	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.647153	0.16037	N	0.232569	T	0.01421	0.0046	N	0.00690	-1.25	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.48833	-0.9000	10	0.15066	T	0.55	.	8.4119	0.32648	0.0:0.3226:0.0:0.6774	.	173	Q08629	TICN1_HUMAN	T	173;173;28	ENSP00000378401:A173T;ENSP00000282223:A173T;ENSP00000421677:A28T	ENSP00000282223:A173T	A	-	1	0	SPOCK1	136431375	0.624000	0.27102	0.838000	0.33150	0.900000	0.52787	0.051000	0.14141	0.035000	0.15519	-1.327000	0.01280	GCC	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251222.1		-	ENST00000394945.1	Missense_Mutation	SNP	5 : 136403476 - 136403476 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	469	16
TET2	54790	broad.mit.edu	37	4	106157130	106157130	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:106157130T>A	ENST00000513237.1	+	3	2891	c.2094T>A	c.(2092-2094)tgT>tgA	p.C698*	TET2_ENST00000305737.2_Nonsense_Mutation_p.C677*|TET2_ENST00000540549.1_Nonsense_Mutation_p.C677*|TET2_ENST00000394764.1_Nonsense_Mutation_p.C677*|TET2_ENST00000380013.4_Nonsense_Mutation_p.C677*|TET2_ENST00000413648.2_Nonsense_Mutation_p.C677*|TET2_ENST00000545826.1_Nonsense_Mutation_p.C677*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	677	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTCACTGTGTGGCACTAGAT	0.438		NA	Mis N, F		MDS									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													109	107	108			NA	NA	4		NA											NA				106157130		2203	4300	6503	SO:0001587	stop_gained			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769	54790	54790			25941	protein-coding gene	gene with protein product		612839	KIAA1546, tet oncogene family member 2	KIAA1546	NA	10997877, 12646957	Standard	NM_017628	NM_017628	NA	Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000513237.1:c.2094T>A	4.37:g.106157130T>A	ENSP00000425443:p.Cys698*	NA	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	37		.	.	.	.	.	.	.	.	.	.	T	29.6	5.020328	0.93462	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.6	-6.08	0.02151	.	0.621347	0.15973	N	0.235671	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.1181	0.42603	0.0:0.5241:0.1056:0.3704	.	.	.	.	X	677;677;677;698;677;677;677	.	ENSP00000265149:C677X	C	+	3	2	TET2	106376579	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.340000	0.07821	-0.678000	0.05224	0.533000	0.62120	TGT	TET2-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000363308.1		+	ENST00000513237.1	Nonsense_Mutation	SNP	4 : 106157130 - 106157130 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	398	5
TGM5	9333	broad.mit.edu	37	15	43527834	43527834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:43527834G>A	ENST00000220420.5	-	10	1554	c.1547C>T	c.(1546-1548)cCg>cTg	p.P516L	TGM5_ENST00000349114.4_Missense_Mutation_p.P434L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	516					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CATGTTGGGCGGGTCGAGCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	90	96			NA	NA	15		NA											NA				43527834		2203	4299	6502	SO:0001583	missense			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055	9333	9333		Transglutaminases	11781	protein-coding gene	gene with protein product		603805			NA	9452468, 11390390	Standard	NM_004245	NM_201631	NA	Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1547C>T	15.37:g.43527834G>A	ENSP00000220420:p.Pro516Leu	NA	O43549|Q0VF40|Q9UEZ4	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	6.234	0.411308	0.11812	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.68624	-0.34;-0.34	5.58	3.58	0.41010	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.439796	0.24666	N	0.036588	T	0.54838	0.1883	L	0.47016	1.485	0.09310	N	1	B;B	0.30937	0.136;0.301	B;B	0.24269	0.024;0.052	T	0.49041	-0.8980	10	0.39692	T	0.17	-0.4586	10.2275	0.43233	0.0:0.1477:0.6995:0.1528	.	434;516	O43548-2;O43548	.;TGM5_HUMAN	L	516;434;515	ENSP00000220420:P516L;ENSP00000220419:P434L	ENSP00000220420:P516L	P	-	2	0	TGM5	41315126	0.094000	0.21725	0.008000	0.14137	0.083000	0.17756	2.334000	0.43920	1.351000	0.45789	-0.165000	0.13383	CCG	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432257.1		-	ENST00000220420.5	Missense_Mutation	SNP	15 : 43527834 - 43527834 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	276	13
THRB	7068	broad.mit.edu	37	3	24231773	24231773	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:24231773G>A	ENST00000356447.4	-	4	359	c.75C>T	c.(73-75)caC>caT	p.H25H	THRB_ENST00000396671.2_Silent_p.H25H|THRB_ENST00000416420.1_Silent_p.H25H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	25	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTTCCAGTCGTGTTCTCGGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(21;896 1043 15021 37958)							NA				0													177	159	165			NA	NA	3		NA											NA				24231773		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090	7068	7068		Nuclear hormone receptors	11799	protein-coding gene	gene with protein product	avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, oncogene ERBA2, generalized resistance to thyroid hormone, thyroid hormone receptor beta 1	190160	thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2), pituitary resistance to thyroid hormone, thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)	ERBA2, PRTH	NA	1973914, 8040303	Standard	NM_000461	NM_000461	NA	Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.75C>T	3.37:g.24231773G>A		NA	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	37	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	G	7.584	0.669381	0.14776	.	.	ENSG00000151090	ENST00000416811	.	.	.	5.93	2.09	0.27110	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.38566	D	0.949829	.	.	.	.	.	.	T	0.64236	-0.6455	5	0.87932	D	0	.	8.5522	0.33458	0.0713:0.5866:0.2416:0.1005	.	.	.	.	M	25	.	ENSP00000414401:T25M	T	-	2	0	THRB	24206777	0.992000	0.36948	0.664000	0.29753	0.990000	0.78478	0.216000	0.17585	0.095000	0.17434	-0.175000	0.13238	ACG	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252877.3		-	ENST00000356447.4	Silent	SNP	3 : 24231773 - 24231773 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	404	5
TIAM1	7074	broad.mit.edu	37	21	32493078	32493078	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr21:32493078C>T	ENST00000286827.3	-	29	4855	c.4384G>A	c.(4384-4386)Gtc>Atc	p.V1462I	TIAM1_ENST00000541036.1_Missense_Mutation_p.V1402I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1462					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTGCGGAGACGGCATCAGAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL	0,4406		0,0,2203	43	46	45		4384	2.2	0.7	21		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	1462/1592	32493078	1,13005	2203	4300	6503	SO:0001583	missense				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299	7074	7074		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11805	protein-coding gene	gene with protein product		600687			NA	8595894, 15340013	Standard	NM_003253	NM_003253	NA	Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4384G>A	21.37:g.32493078C>T	ENSP00000286827:p.Val1462Ile	NA	Q17RT7	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010725	0.19277	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.39056	1.1;1.11	5.14	2.2	0.27929	.	0.290368	0.32147	N	0.006505	T	0.20981	0.0505	N	0.13235	0.315	0.27602	N	0.948927	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.17471	-1.0368	10	0.20046	T	0.44	.	6.7271	0.23363	0.0:0.5879:0.0:0.4121	.	1402;1462	F5GZ53;Q13009	.;TIAM1_HUMAN	I	1462;1402	ENSP00000286827:V1462I;ENSP00000441570:V1402I	ENSP00000286827:V1462I	V	-	1	0	TIAM1	31414949	0.308000	0.24509	0.735000	0.30896	0.916000	0.54674	0.220000	0.17660	0.129000	0.18514	-0.140000	0.14226	GTC	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192552.1		-	ENST00000286827.3	Missense_Mutation	SNP	21 : 32493078 - 32493078 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	392	14
TNN	63923	broad.mit.edu	37	1	175086325	175086325	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:175086325C>T	ENST00000239462.4	+	10	2483	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	790	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAAGGCTGACACCAAGGCCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	1		NA											NA				175086325		2203	4300	6503	SO:0001819	synonymous_variant			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332	63923	63923		Fibrinogen C domain containing, Fibronectin type III domain containing	22942	protein-coding gene	gene with protein product					NA		Standard	XM_040527	NM_022093	NA	Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2370C>T	1.37:g.175086325C>T		NA	B9EGP3|Q5R360	37	CCDS30943.1																																																																																			TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084422.1		+	ENST00000239462.4	Silent	SNP	1 : 175086325 - 175086325 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	479	19
TPK1	27010	broad.mit.edu	37	7	144380019	144380019	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:144380019G>T	ENST00000538212.2	-	2	102	c.32C>A	c.(31-33)cCg>cAg	p.P11Q	TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Silent_p.T56T|TPK1_ENST00000360057.3_Silent_p.T56T			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	0					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCTCTCCTTCGGTGATATCAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(45;88 1034 2073 5829 28455)							NA				0													202	199	200			NA	NA	7		NA											NA				144380019		2203	4300	6503	SO:0001583	missense			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511	27010	27010			17358	protein-coding gene	gene with protein product	placental protein 20, thiamine pyrophosphokinase 1, thiamine kinase, thiamine diphosphokinase	606370			NA	11342111	Standard	NM_022445	NM_022445	NA	Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000538212.2:c.32C>A	7.37:g.144380019G>T	ENSP00000438813:p.Pro11Gln	NA	A8K0T7|D3DWG0|Q6NUR5|Q9H602	37		.	.	.	.	.	.	.	.	.	.	G	11.09	1.535538	0.27475	.	.	ENSG00000196511	ENST00000538212	T	0.76839	-1.05	6.02	-12.0	0.00017	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.39078	D	0.960843	B	0.13594	0.008	B	0.12156	0.007	T	0.42699	-0.9436	8	0.87932	D	0	-12.0501	0.591	0.00728	0.3264:0.1282:0.3282:0.2172	.	11	Q6ZQX6	.	Q	11	ENSP00000438813:P11Q	ENSP00000449909:P11Q	P	-	2	0	TPK1	144010952	0.001000	0.12720	0.186000	0.23195	0.976000	0.68499	-3.359000	0.00498	-2.266000	0.00687	-0.136000	0.14681	CCG	TPK1-014	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000404403.4		-	ENST00000538212.2	Missense_Mutation	SNP	7 : 144380019 - 144380019 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	964	7
TRPM3	80036	broad.mit.edu	37	9	73151119	73151119	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:73151119T>C	ENST00000377111.2	-	26	4199				TRPM3_ENST00000377105.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000358082.3_Missense_Mutation_p.N1487S|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1497S|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1652S|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1629S|TRPM3_ENST00000377110.3_Missense_Mutation_p.N1625S|TRPM3_ENST00000396280.5_Missense_Mutation_p.N1474S|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1484S|TRPM3_ENST00000377106.1_Missense_Mutation_p.N1497S|TRPM3_ENST00000360823.2_Missense_Mutation_p.N1487S|TRPM3_ENST00000396285.1_Missense_Mutation_p.N1484S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	NA						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGTGATGTTGTTGGACAGGGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													398	385	389			NA	NA	9		NA											NA				73151119		2203	4300	6503	SO:0001627	intron_variant			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067	80036	80036		Voltage-gated ion channels / Transient receptor potential cation channels	17992	protein-coding gene	gene with protein product	melastatin 2	608961			NA	16382100	Standard	NM_206945	NM_206946	NA	Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3956-752A>G	9.37:g.73151119T>C		NA	A2A3F6|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	37		.	.	.	.	.	.	.	.	.	.	T	11.08	1.534120	0.27475	.	.	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.53640	0.66;0.64;0.64;0.61;0.66;0.61;0.64;0.64;0.64;0.65	5.77	4.62	0.57501	.	0.290243	0.39083	N	0.001479	T	0.51126	0.1656	N	0.24115	0.695	0.32672	N	0.516704	B;B;B;B;P;D;B	0.56035	0.318;0.318;0.213;0.378;0.73;0.974;0.213	B;B;B;B;B;D;B	0.67725	0.099;0.141;0.046;0.047;0.281;0.953;0.031	T	0.58194	-0.7679	10	0.25751	T	0.34	-32.5811	13.0652	0.59030	0.0:0.0:0.1343:0.8657	.	1625;1615;1629;1487;1484;1597;1484	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	S	1625;1497;1487;1484;1629;1484;1484;1497;1487;1652	ENSP00000366314:N1625S;ENSP00000366310:N1497S;ENSP00000354066:N1487S;ENSP00000366309:N1484S;ENSP00000350140:N1629S;ENSP00000386127:N1484S;ENSP00000379581:N1484S;ENSP00000379587:N1497S;ENSP00000350791:N1487S;ENSP00000389542:N1652S	ENSP00000350140:N1629S	N	-	2	0	TRPM3	72340939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	0.985000	0.38656	0.533000	0.62120	AAC	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000214157.5		-	ENST00000377111.2	Intron	SNP	9 : 73151119 - 73151119 C PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	2223	97
UNC79	57578	broad.mit.edu	37	14	94004400	94004400	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr14:94004400C>T	ENST00000553484.1	+	12	1342	c.1188C>T	c.(1186-1188)caC>caT	p.H396H	UNC79_ENST00000555664.1_Silent_p.H396H|UNC79_ENST00000393151.2_Silent_p.H396H|UNC79_ENST00000256339.4_Silent_p.H219H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	396						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGGTCGTCACGGAAACAGGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	76	77			NA	NA	14		NA											NA				94004400		2203	4300	6503	SO:0001819	synonymous_variant			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	57578	57578			19966	protein-coding gene	gene with protein product			KIAA1409	KIAA1409	NA	20714347, 21040849	Standard	XM_028395	NM_020818	NA	Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000553484.1:c.1188C>T	14.37:g.94004400C>T		NA	Q6ZUT7	37																																																																																				UNC79-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000074289.4		+	ENST00000553484.1	Silent	SNP	14 : 94004400 - 94004400 T PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	334	7
VPS13D	55187	broad.mit.edu	37	1	12423195	12423195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:12423195G>A	ENST00000358136.3	+	52	10470	c.10340G>A	c.(10339-10341)cGg>cAg	p.R3447Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3422Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3446					protein localization			p.R3447Q(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACTGGCCTCGGAATGACTAT	0.453		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)											254	221	232			NA	NA	1		NA											NA				12423195		2203	4300	6503	SO:0001583	missense			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707	55187	55187			23595	protein-coding gene	gene with protein product		608877	vacuolar protein sorting 13D (yeast)		NA		Standard	NM_015378	NM_015378	NA	Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10340G>A	1.37:g.12423195G>A	ENSP00000350854:p.Arg3447Gln	NA	Q58F10|Q6MZK9|Q6ZV12|Q709C4|Q709C5|Q86UB4|Q9NSJ3|Q9UIM0	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.752959|5.752959	0.96890|0.96890	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.33438	.|1.41;1.41	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Vacuolar protein sorting-associated protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55561|0.55561	0.1928|0.1928	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.994;1.0	.|D;D	.|0.87578	.|0.956;0.998	T|T	0.35943|0.35943	-0.9768|-0.9768	5|10	.|0.31617	.|T	.|0.26	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3422;3446	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	R|Q	2269|3422;3447	.|ENSP00000348666:R3422Q;ENSP00000350854:R3447Q	.|ENSP00000348666:R3422Q	G|R	+|+	1|2	0|0	VPS13D|VPS13D	12345782|12345782	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.863000|0.863000	0.49368|0.49368	9.434000|9.434000	0.97515|0.97515	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGA|CGG	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036897.2		+	ENST00000358136.3	Missense_Mutation	SNP	1 : 12423195 - 12423195 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	438	16
WDFY1	57590	broad.mit.edu	37	2	224758990	224758990	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:224758990G>A	ENST00000233055.4	-	8	894	c.792C>T	c.(790-792)ggC>ggT	p.G264G		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	264						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGCAATTCCGCCGTCCGAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	174	129	145		792	-5	0.9	2		145	0,8600		0,0,4300	no	coding-synonymous	WDFY1	NM_020830.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		264/411	224758990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449	57590	57590		Zinc fingers, FYVE domain containing, WD repeat domain containing	20451	protein-coding gene	gene with protein product			WD40 and FYVE domain containing 1		NA	11739631	Standard	NM_020830	NM_020830	NA	Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.792C>T	2.37:g.224758990G>A		NA	Q9H9D5|Q9P2B3	37	CCDS33387.1																																																																																			WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330908.1		-	ENST00000233055.4	Silent	SNP	2 : 224758990 - 224758990 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	302	8
ZNF780A	284323	broad.mit.edu	37	19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:40581109T>C	ENST00000450241.2	-	6	1449	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V			O75290	Z780A_HUMAN	zinc finger protein 780A	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383		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)											178	182	180			NA	NA	19		NA											NA				40581109		2203	4300	6503	SO:0001583	missense			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782	284323	284323		Zinc fingers, C2H2-type, -	27603	protein-coding gene	gene with protein product					NA		Standard	NM_001010880	NM_001142577	NA	Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000450241.2:c.1138A>G	19.37:g.40581109T>C	ENSP00000387705:p.Ile380Val	NA	Q6ZN87	37		.	.	.	.	.	.	.	.	.	.	T	10.67	1.415046	0.25552	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.16897	2.31;2.31	1.93	0.83	0.18854	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	9	0.59425	D	0.04	.	8.0199	0.30404	0.0:0.8348:0.0:0.1652	.	415;414	E9PB48;O75290	.;Z780A_HUMAN	V	414;415;414	ENSP00000400997:I415V;ENSP00000341507:I414V	ENSP00000341507:I414V	I	-	1	0	ZNF780A	45272949	0.003000	0.15002	0.007000	0.13788	0.407000	0.30961	1.030000	0.30153	-0.222000	0.09958	-1.945000	0.00491	ATA	ZNF780A-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000338467.2		-	ENST00000450241.2	Missense_Mutation	SNP	19 : 40581109 - 40581109 C PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	1104	7
ZNFX1	57169	broad.mit.edu	37	20	47887081	47887081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:47887081G>A	ENST00000396105.1	-	3	1514	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S423L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S423L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	423							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TATGCCTGATGATGAACACAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	174	176			NA	NA	20		NA											NA				47887081		2203	4300	6503	SO:0001583	missense			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201	57169	57169			29271	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_021035	NM_021035	NA	Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1268C>T	20.37:g.47887081G>A	ENSP00000379412:p.Ser423Leu	NA	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323649	0.24080	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.86769	-1.87;-2.17;-2.17;-0.79;-1.52	5.85	5.85	0.93711	.	0.517391	0.21337	N	0.076200	D	0.84719	0.5534	L	0.52759	1.655	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.70502	-0.4854	10	0.25751	T	0.34	-3.7111	18.7272	0.91718	0.0:0.0:1.0:0.0	.	423	Q9P2E3	ZNFX1_HUMAN	L	423;423;423;423;423;227	ENSP00000360819:S423L;ENSP00000360817:S423L;ENSP00000379412:S423L;ENSP00000360809:S423L;ENSP00000413800:S227L	ENSP00000360809:S423L	S	-	2	0	ZNFX1	47320488	0.893000	0.30496	0.982000	0.44146	0.992000	0.81027	4.477000	0.60223	2.773000	0.95371	0.655000	0.94253	TCA	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079647.2		-	ENST00000396105.1	Missense_Mutation	SNP	20 : 47887081 - 47887081 A PAAD-TCGA-IB-8126-Tumor-SM-3MVD5	931	7
