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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ULK4	54986	broad.mit.edu	37	3	41949428	41949428	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr3:41949428C>A	uc003ckv.4	-	11	1292	c.1091G>T	c.(1090-1092)cGt>cTt	p.R364L	ULK4_uc003ckw.2_Missense_Mutation_p.R364L|ULK4_uc003ckx.1_Missense_Mutation_p.R364L	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	364							ATP binding|protein serine/threonine kinase activity	p.R364L(3)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGGAGTAGGACGAGAACTGAA	0.408000													29	83					0	0	1	0	0
FAM127A	8933	broad.mit.edu	37	X	134166693	134166693	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrX:134166693T>A	uc004eyd.3	+	0	361	c.280T>A	c.(280-282)Tac>Aac	p.Y94N		NM_001078171	NP_001071639	A6ZKI3	F127A_HUMAN	Homo sapiens family with sequence similarity 127, member A (FAM127A), mRNA.	94								p.Y94N(1)		endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCTCAATGATTACCGGGGCTT	0.642000													29	16					0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386911	8386911	+	RNA	SNP	G	G	T	rs2968743	by1000genomes	TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:8386911G>T	uc010sgk.2	-	3		c.545C>A								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.									p.R281S(1)									TCTGGGTTGCGGACGGTAAAG	0.657000													4	66					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113733848	113733848	+	Silent	SNP	A	A	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:113733848A>T	uc001tux.3	+	28	2808	c.2634A>T	c.(2632-2634)ccA>ccT	p.P878P	TPCN1_uc001tuw.3_Silent_p.P806P|TPCN1_uc010syu.2_Non-coding_Transcript	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	806						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.P806P(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AGCAGCCCCCAGGCAGCCGCC	0.597000													23	41					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189918665	189918665	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:189918665C>A	uc002uqk.3	-	36	2730	c.2455G>T	c.(2455-2457)Ggt>Tgt	p.G819C	COL5A2_uc010frx.3_Missense_Mutation_p.G395C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	819					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G819C(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTCGAGGACCAGGTTCACCC	0.423000													3	50					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86033	86033	+	RNA	SNP	T	T	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrGL000211.1:86033T>C	uc003bnz.1	+	5		c.781T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CCATAGGGAGTTTATAGCTTC	0.403000													3	12					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62614008	62614008	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:62614008C>G	uc001dab.3	+	41	5438	c.5324C>G	c.(5323-5325)tCt>tGt	p.S1775C	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Missense_Mutation_p.S559C	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1775					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.S1775C(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAAAACATGTCTACAGGCTAC	0.448000													8	301					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206050517	206050517	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:206050517G>C	uc002var.2	+	13	2161	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	PARD3B_uc010fub.2_Missense_Mutation_p.E652Q|PARD3B_uc002vao.2_Missense_Mutation_p.E652Q|PARD3B_uc002vap.2_Missense_Mutation_p.E590Q|PARD3B_uc002vaq.2_Missense_Mutation_p.E652Q	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	652					cell cycle|cell division	endomembrane system|tight junction		p.E591Q(1)|p.E652Q(1)|p.E590Q(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGATGGGCCGAGAGTGAAGT	0.443000													6	244					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110436428	110436428	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr13:110436428G>T	uc001vqv.3	-	0	2487	c.1973C>A	c.(1972-1974)cCc>cAc	p.P658H		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	658					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	p.P658H(2)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGCCGCGCCGGGCGTCATGGG	0.677000													3	14					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10908828	10908828	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr21:10908828T>G	uc002yip.1	-	22	1885	c.1517A>C	c.(1516-1518)aAc>aCc	p.N506T	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.N488T|TPTE_uc002yir.1_Missense_Mutation_p.N468T|TPTE_uc010gkv.1_Missense_Mutation_p.N368T	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	506	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.N488T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCATACCTGTTATTTTCAAT	0.294000													4	129					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68007736	68007736	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr8:68007736T>C	uc003xxi.3	+	7	855	c.824T>C	c.(823-825)aTt>aCt	p.I275T	CSPP1_uc003xxg.1_Missense_Mutation_p.I267T|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.I240T|CSPP1_uc003xxk.3_5'UTR	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	275						centrosome|microtubule|spindle		p.I240T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATAGAAGAATTATTAAAAAA	0.373000													4	161					0	0	1	0	0
PSRC1	84722	broad.mit.edu	37	1	109823645	109823645	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:109823645C>T	uc001dxj.3	-	4	894	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	PSRC1_uc001dxb.3_Missense_Mutation_p.V50I|PSRC1_uc001dxc.3_Missense_Mutation_p.V220I|PSRC1_uc001dxd.3_Missense_Mutation_p.V220I|PSRC1_uc001dxf.3_Intron	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	250	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	p.V250I(2)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GGGGCCAGGACGGATCTGATG	0.612000													24	42					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242079323	242079323	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:242079323C>G	uc002wao.2	-	3	710	c.577G>C	c.(577-579)Gct>Cct	p.A193P	PASK_uc010zol.2_Intron|PASK_uc010zom.2_Missense_Mutation_p.A193P|PASK_uc010fzl.2_Missense_Mutation_p.A193P|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Missense_Mutation_p.A193P|PASK_uc002waq.3_Missense_Mutation_p.A193P	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	193					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.A193P(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ACCACCGCAGCGTGGCCGTCG	0.602000													18	62					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52937267	52937267	+	Silent	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr19:52937267G>A	uc002pzk.3	+	1	142	c.75G>A	c.(73-75)ctG>ctA	p.L25L	ZNF534_uc002pzj.1_Silent_p.L25L|ZNF534_uc010epo.1_Silent_p.L25L|ZNF534_uc002pzl.3_Silent_p.L25L	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L25L(3)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAAATGCCTGGACCCTGGGC	0.478000													57	116					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266407	85266407	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:85266407A>T	uc001szv.3	-	7	1769	c.1276T>A	c.(1276-1278)Tgt>Agt	p.C426S	SLC6A15_uc010sul.2_Missense_Mutation_p.C319S	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	426					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.C426S(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCAATTTTACAGGAATTGAGA	0.318000													4	159					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52864359	52864359	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:52864359T>A	uc001sal.4	-	5	1181	c.1133A>T	c.(1132-1134)aAg>aTg	p.K378M		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	378	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.K378M(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AATCTCCTGCTTGGTGTTGCG	0.552000													18	181					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375689	46375689	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr19:46375689A>T	uc002pdr.3	+	1	623	c.426A>T	c.(424-426)gaA>gaT	p.E142D		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	142					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.E142D(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCTTGAGTGAAATCTACCAGT	0.567000													18	257					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155242138	155242138	+	Silent	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr4:155242138C>T	uc003inw.2	-	13	3048	c.3048G>A	c.(3046-3048)acG>acA	p.T1016T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1016	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1016T(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATGAGATGTCGTCTCATAAT	0.378000													30	341					0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000													4	8					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135619	33135619	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:33135619C>A	uc003ocx.1	-	54	4199	c.3971G>T	c.(3970-3972)gGc>gTc	p.G1324V	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1238V|COL11A2_uc003ocz.1_Missense_Mutation_p.G1217V	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1324	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.G1324V(2)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCAGGCGAGCCAGCAGGACC	0.637000													3	37					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32018029	32018029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:32018029C>T	uc003nzl.2	-	26	9381	c.9179G>A	c.(9178-9180)cGc>cAc	p.R3060H		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3107	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R3127H(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGGCGAGGCTTGAT	0.627000													42	85					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149526724	149526724	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:149526724T>G	uc010zbt.2	+	7	1172	c.1145T>G	c.(1144-1146)tTg>tGg	p.L382W		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	382					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L382W(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GTCTAGGTATTGTCCCCAGTA	0.378000													5	33					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209948722	209948722	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:209948722T>A	uc001hho.3	+	9	1223	c.803T>A	c.(802-804)gTa>gAa	p.V268E	TRAF3IP3_uc001hhm.2_Missense_Mutation_p.V268E|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.V248E|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.V268E	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	268						integral to membrane	protein binding	p.V248E(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ATGAAAAAAGTACTACTGGAG	0.428000													10	35					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47679997	47679997	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr4:47679997C>T	uc003gxm.3	-	8	1300	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	CORIN_uc011bzf.2_Missense_Mutation_p.E264K|CORIN_uc011bzg.2_Missense_Mutation_p.E336K|CORIN_uc011bzh.1_Missense_Mutation_p.E366K|CORIN_uc011bzi.1_Missense_Mutation_p.E366K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	403	LDL-receptor class A 4.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.E403K(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTGCAGTCCTCGTCACCATCA	0.512000													5	157					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39828787	39828787	+	Silent	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:39828787G>A	uc003oow.3	+	2	391	c.252G>A	c.(250-252)aaG>aaA	p.K84K	DAAM2_uc010jxc.3_Silent_p.K84K|DAAM2_uc003oox.3_Silent_p.K84K|DAAM2_uc003ooy.4_Silent_p.K84K	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	84	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding	p.K84K(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTGCAGCAAGAAGAAGGTGC	0.502000													7	22					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2570856	2570856	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr16:2570856A>G	uc010uwc.2	+	1	267	c.170A>G	c.(169-171)gAc>gGc	p.D57G	AMDHD2_uc002cqp.3_Missense_Mutation_p.D57G|AMDHD2_uc002cqq.3_Missense_Mutation_p.D57G|AMDHD2_uc010uwd.2_Intron	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	57					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	p.D57G(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GAGCGGCGGGACTGCGGGGGC	0.692000													5	21					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20490511	20490511	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:20490511T>C	uc002rds.1	-	8	1211	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	PUM2_uc002rdt.1_Missense_Mutation_p.N398S|PUM2_uc002rdr.2_Missense_Mutation_p.N337S|PUM2_uc010yjy.1_Missense_Mutation_p.N398S|PUM2_uc002rdu.1_Missense_Mutation_p.N398S|PUM2_uc010yjz.1_Missense_Mutation_p.N337S	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	398	Ala-rich.|Gln-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding	p.N398S(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACCCTGATTGGGAGTAAG	0.443000													10	123					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75072385	75072385	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr10:75072385C>T	uc009xrc.3	-	10	1260	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	TTC18_uc001jty.3_Missense_Mutation_p.S380N|TTC18_uc009xrd.1_Missense_Mutation_p.S188N	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	380							binding	p.S380N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCGGAACAAGCTCAATAAACA	0.294000													9	292					0	0	1	0	0
TAF1D	79101	broad.mit.edu	37	11	93471531	93471531	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr11:93471531G>A	uc001ped.3	-	2	446	c.203C>T	c.(202-204)tCa>tTa	p.S68L	TAF1D_uc001pec.3_5'Flank|TAF1D_uc001pdz.3_Non-coding_Transcript	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa (TAF1D), mRNA.	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S68L(2)		large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TTCAAAAGATGAGTCACTTGA	0.363000													93	178					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798265	140798265	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:140798265C>T	uc003lkn.2	+	0	1006	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.S280F|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	280	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S280F(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTTATTCCTTCTTTGGT	0.493000													30	43					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41000651	41000651	+	Silent	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrX:41000651G>A	uc004dfb.3	+	8	1761	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	USP9X_uc004dfc.3_Silent_p.E376E	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	376					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.E369E(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTAATCCTGAGGAGGAAGAGT	0.363000													13	36					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154667655	154667655	+	Silent	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr7:154667655C>T	uc003wlk.3	+	19	2052	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	DPP6_uc003wli.3_Silent_p.F577F|DPP6_uc003wlm.3_Silent_p.F579F|DPP6_uc011kvq.2_Silent_p.F534F	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	641					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.F577F(1)|p.F641F(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGAGAAGTTCGAGGTGAGCT	0.652000													4	19					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519844	62519844	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr11:62519844G>C	uc001nuz.3	-	1	1565	c.1443C>G	c.(1441-1443)ttC>ttG	p.F481L		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F481L(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGAGCATGAGAAGGTCTTCC	0.552000													16	106					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558062	140558062	+	Silent	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:140558062T>A	uc011dai.2	+	0	692	c.447T>A	c.(445-447)ccT>ccA	p.P149P	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	149	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P149P(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTCCTCCTGGGACTGCGT	0.413000													91	395					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367150	248367150	+	Missense_Mutation	SNP	C	C	T	rs147728074	byFrequency	TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:248367150C>T	uc010pzg.2	+	0	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.502000													61	385					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159033322	159033322	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:159033322delT	uc001ftj.1	-	4	1204	c.959delA	c.(958-960)aatfs	p.N320fs		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	320	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTCTCCATTTTTTGACAG	0.408													209	379	---	---	---	---					
TPR	7175	broad.mit.edu	37	1	186307316	186307316	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:186307316delT	uc001grv.3	-	30	4508	c.4211delA	c.(4210-4212)aatfs	p.N1404fs	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1404					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTACTTTATTTAGATCTTC	0.294			T	NTRK1	papillary thyroid								27	195	---	---	---	---					
CNTN6	27255	broad.mit.edu	37	3	1262421	1262422	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr3:1262421_1262422insT	uc003boz.3	+	2	373_374	c.106_107insT	c.(106-108)attfs	p.I36fs	CNTN6_uc010hbo.2_Frame_Shift_Ins_p.I31fs|CNTN6_uc011asj.2_5'UTR|CNTN6_uc003bpa.3_Frame_Shift_Ins_p.I36fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	36	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACATGATGTCATTTTTCCTTTG	0.401													8	324	---	---	---	---					
SLC22A4	6583	broad.mit.edu	37	5	131676278	131676278	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:131676278delC	uc003kwq.3	+	8	1630	c.1465delC	c.(1465-1467)cccfs	p.P489fs	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	489					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CAGAATGCTGCCCTACATCGT	0.458													15	665	---	---	---	---					
