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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
COL4A3	1285	broad.mit.edu	37	2	228157946	228157946	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:228157946G>A	uc002vom.2	+	37	3412	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1084	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G1083E(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGAAAGGAGAAATGGGGCA	0.507000														30			5		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100504674	100504674	+	Splice_Site	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:100504674G>T	uc011cej.2	+	3	487	c.474_splice	c.e3+1	p.K158_splice	MTTP_uc003hvc.4_Splice_Site_p.K131_splice|MTTP_uc003hvb.3_Missense_Mutation_p.K131N	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	131	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCCATGGAAAGGTAAAGGGGC	0.363000														48			4		0.00198382	0.0020023	1	1	0
UROC1	131669	broad.mit.edu	37	3	126202263	126202263	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:126202263C>T	uc010hsi.2	-	19	2073	c.2019G>A	c.(2017-2019)ccG>ccA	p.P673P	UROC1_uc003eiz.2_Silent_p.P613P	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	613					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCTCGGCCTCCGGGGTACCGT	0.622000														51			12		0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687255	21687255	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:21687255G>A	uc002wsj.2	+	1	520	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PAX1_uc010zsl.2_Missense_Mutation_p.E156K|PAX1_uc010zsm.2_Missense_Mutation_p.E132K	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	156	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.E62K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGCTACAACGAGACCGGCTC	0.652000														119			12		0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100731199	100731199	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:100731199C>T	uc003uxq.3	+	2	837	c.606C>T	c.(604-606)tgC>tgT	p.C202C	TRIM56_uc003uxr.3_Silent_p.C202C|TRIM56_uc022aiw.1_Silent_p.C202C	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	202					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACCCCTGCCTGCCTCTGG	0.697000														20			3		0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17743002	17743002	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:17743002G>A	uc003wye.3	-	4	879	c.213_splice	c.e4+1	p.S71_splice	FGL1_uc003wxx.3_Splice_Site_p.S21_splice|FGL1_uc003wxy.3_Splice_Site_p.S21_splice|FGL1_uc003wya.3_Splice_Site_p.S21_splice|FGL1_uc003wyb.3_Splice_Site_p.S21_splice	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	21					signal transduction	fibrinogen complex	receptor binding	p.S21L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GAAGCTTACCGAAATTTCCCT	0.358000														44			11		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121351304	121351304	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:121351304G>A	uc003eeh.4	-	11	1240	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	HCLS1_uc011bjj.2_Missense_Mutation_p.P335L|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	372					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ctcaggctcgggctcaggctc	0.607000														199			78		0	0	1	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624812	6624812	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:6624812T>G	uc003sqi.3	+	7	1020	c.662T>G	c.(661-663)gTg>gGg	p.V221G	ZDHHC4_uc003sql.3_Missense_Mutation_p.V221G|ZDHHC4_uc003sqj.3_Missense_Mutation_p.V221G|ZDHHC4_uc003sqh.3_Missense_Mutation_p.V221G	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	221						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CACTTGGTGGTGATGTCAGAT	0.488000														50			31		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821242	43821242	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:43821242C>T	uc001zrt.3	+	3	8038	c.7571C>T	c.(7570-7572)tCc>tTc	p.S2524F		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2524						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAGTGTCCGTCCATCACAGCT	0.577000														118			62		0	0	1	0	0
GPR153	387509	broad.mit.edu	37	1	6311561	6311561	+	Silent	SNP	G	A	A	rs148652706		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:6311561G>A	uc001amp.2	-	3	1076	c.816C>T	c.(814-816)gaC>gaT	p.D272D		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	272						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCGCTGAGGCGTCGGCCCGCA	0.701000														23			13		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999313	104999313	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:104999313C>T	uc004elz.1	+	9	2091	c.1335C>T	c.(1333-1335)atC>atT	p.I445I		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	445	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACTCTTCATCCCAGAAAGAG	0.373000														48			18		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133403025	133403025	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:133403025G>A	uc002ttl.3	+	1	1677	c.1208G>A	c.(1207-1209)aGg>aAg	p.R403K	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	403						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTCTGCAAGGAGAACTGAG	0.597000														54			15		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715825	13715825	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:13715825C>T	uc001rbt.2	-	12	4526	c.4347G>A	c.(4345-4347)ggG>ggA	p.G1449G		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1449					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.G1449E(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGACTGGTTCCCTATACAGA	0.547000														103			38		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3005129	3005129	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:3005129C>T	uc010zqd.2	+	15	1826	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V	PTPRA_uc002whj.3_Silent_p.V492V|PTPRA_uc002whk.3_Silent_p.V483V|PTPRA_uc002whl.3_Silent_p.V483V|PTPRA_uc002whm.3_Silent_p.V259V|PTPRA_uc002whn.3_Silent_p.V483V|PTPRA_uc002who.3_Silent_p.V155V	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	492					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGCAGTATGTCTTCATATACC	0.428000														162			28		0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120169026	120169026	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:120169026C>T	uc021qrk.1	+	3	225	c.191C>T	c.(190-192)cCa>cTa	p.P64L	POU2F3_uc001pxc.3_Missense_Mutation_p.P62L|POU2F3_uc010rzk.2_5'UTR|POU2F3_uc010rzl.2_5'UTR	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	62					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TCCCATCGGCCATGCCACCTG	0.547000														139			64		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36169300	36169300	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:36169300C>T	uc003olv.4	+	1	1425	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	BRPF3_uc010jwb.3_Missense_Mutation_p.P401S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.P401S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	401					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGGCGACTCCCCTAGAAGCAT	0.577000														21			5		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20243646	20243646	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:20243646G>A	uc002wru.3	+	20	2489	c.2375G>A	c.(2374-2376)aGg>aAg	p.R792K	C20orf26_uc010zse.2_Missense_Mutation_p.R772K|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Missense_Mutation_p.R148K	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	792										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTGACAAACAGGGAGGTTCCC	0.463000														101			16		0	0	1	0	0
SNCG	6623	broad.mit.edu	37	10	88718556	88718556	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:88718556G>A	uc001keb.2	+	0	269	c.102G>A	c.(100-102)aaG>aaA	p.K34K	MMRN2_uc001kea.3_5'Flank|MMRN2_uc010qmn.2_5'Flank|MMRN2_uc009xtb.2_5'Flank	NM_003087	NP_003078	O76070	SYUG_HUMAN	Homo sapiens synuclein, gamma (breast cancer-specific protein 1) (SNCG), mRNA.	34	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						AGAAGACCAAGGAGGGGGTCA	0.592000														44			9		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563084	129563084	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:129563084T>C	uc009zyl.1	-	7	2438	c.2110A>G	c.(2110-2112)Aaa>Gaa	p.K704E	TMEM132D_uc001uia.2_Missense_Mutation_p.K242E	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	704						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CATACCTGTTTTGGCCTCTGC	0.592000														112			7		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43013087	43013087	+	Silent	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:43013087C>A	uc003otq.3	-	14	3248	c.2916G>T	c.(2914-2916)acG>acT	p.T972T	CUL7_uc010jyg.3_Silent_p.T251T|CUL7_uc011dvb.2_Silent_p.T1056T|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	972	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.T972M(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTGGCCAGAACGTGGGCTTGG	0.592000														107			10		9.70103e-10	1.0009e-09	1	1	0
HNF4A	3172	broad.mit.edu	37	20	43042383	43042383	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:43042383G>A	uc002xma.3	+	3	524	c.435G>A	c.(433-435)gaG>gaA	p.E145E	HNF4A_uc002xlt.3_Silent_p.E123E|HNF4A_uc002xlu.3_Silent_p.E123E|HNF4A_uc002xlv.3_Silent_p.E123E|HNF4A_uc002xly.3_Silent_p.E145E|HNF4A_uc010ggq.3_Silent_p.E138E|HNF4A_uc002xlz.3_Silent_p.E145E	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	145					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAAGCTATGAGGACAGCAGCC	0.632000														33			6		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620554	137620554	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:137620554C>T	uc004cfe.3	+	5	1207	c.825C>T	c.(823-825)taC>taT	p.Y275Y		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	275	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTATTACTACGAATACCCCT	0.607000														114			56		0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331720	28331720	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:28331720C>T	uc002dpd.3	+	3	1542	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGGCAACTTCCCGTGGGAGG	0.736000														38			12		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034345	128034345	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:128034345G>A	uc011kol.1	-	12	1616	c.1510C>T	c.(1510-1512)Cat>Tat	p.H504Y	IMPDH1_uc011kom.1_Missense_Mutation_p.H499Y|IMPDH1_uc003vmt.2_Missense_Mutation_p.H479Y|IMPDH1_uc003vmu.2_Missense_Mutation_p.H589Y|IMPDH1_uc003vmx.2_Missense_Mutation_p.H512Y|IMPDH1_uc003vmy.2_Missense_Mutation_p.H520Y|IMPDH1_uc003vmw.2_Missense_Mutation_p.H579Y|IMPDH1_uc011kon.1_Missense_Mutation_p.H556Y|IMPDH1_uc003vmv.2_Missense_Mutation_p.H553Y|DQ596753_uc022akz.1_5'Flank|DQ595173_uc022ala.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	504					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TGCAGGCCATGGACACCACCC	0.582000														31			22		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				78			71		1.38705e-31	1.46124e-31	1	1	0
FAM55D	54827	broad.mit.edu	37	11	114453573	114453573	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:114453573G>A	uc001ppc.3	-	2	448	c.267C>T	c.(265-267)acC>acT	p.T89T	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	89						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TGTTCACGTGGGTGAAAGGTC	0.502000														89			29		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110726086	110726086	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:110726086G>A	uc003puc.3	-	3	437	c.433C>T	c.(433-435)Cga>Tga	p.R145*	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Intron	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	117					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding	p.R145*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTCATCTTTCGAAATCCCAGA	0.463000														30			24		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714842	55714842	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:55714842C>T	uc010spi.2	+	0	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CATTCTTAATCATATTCCCAG	0.393000														23			3		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75875285	75875285	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:75875285G>A	uc021zbv.1	-	12	2956	c.2921C>T	c.(2920-2922)tCa>tTa	p.S974L	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.S974L|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	974	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGCAAATACTGAAATTCTGTA	0.423000														77			38		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40588498	40588498	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:40588498G>A	uc001zld.3	-	16	1997	c.1696_splice	c.e16+1	p.Q566_splice	PLCB2_uc010bbo.3_Splice_Site_p.Q562_splice|PLCB2_uc010ucm.2_Splice_Site_p.Q566_splice	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	566	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTAACTTACGGGCAGAGAACT	0.537000														14			5		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60413502	60413502	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:60413502G>A	uc001vht.3	-	22	3037	c.2818C>T	c.(2818-2820)Ccc>Tcc	p.P940S	DIAPH3_uc001vhu.3_Missense_Mutation_p.P677S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	940	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding	p.P940S(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCAGGAGGGGGAAAGGTTTCC	0.383000														41			3		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144361297	144361297	+	Silent	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:144361297A>G	uc003ijd.3	+	5	1706	c.1347A>G	c.(1345-1347)ccA>ccG	p.P449P	GAB1_uc003ije.3_Silent_p.P449P|GAB1_uc011chq.2_Silent_p.P346P	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	449	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ATTACGTCCCAATGAATCCCA	0.343000														61			37		0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29611579	29611579	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:29611579G>A	uc003aem.3	+	2	354	c.279G>A	c.(277-279)tgG>tgA	p.W93*	EMID1_uc003aen.3_Nonsense_Mutation_p.W93*	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	93	EMI.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CCCGTGAGTGGAGGTGCTGCC	0.632000														69			25		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134622165	134622165	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:134622165G>T	uc021qbc.1	-	57	8009	c.7908C>A	c.(7906-7908)ttC>ttA	p.F2636L		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	797										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						agaggcccaggaaggggagag	0.706000														10			4		0.00909568	0.00916619	1	1	0
MUC16	94025	broad.mit.edu	37	19	9058106	9058106	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:9058106G>A	uc002mkp.3	-	2	29544	c.29340C>T	c.(29338-29340)acC>acT	p.T9780T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9782	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGATGAACTGGTTTTAGGCT	0.473000														39			14		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094357	46094357	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:46094357C>T	uc002pcm.3	-	1	1713	c.768G>A	c.(766-768)tgG>tgA	p.W256*	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Nonsense_Mutation_p.W256*	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	256						integral to plasma membrane	G-protein coupled receptor activity	p.P255H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGCCGCAGTCCCAGGGGCGGC	0.632000														93			4		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877744	150877744	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:150877744G>A	uc003eyp.3	+	6	1092	c.963G>A	c.(961-963)atG>atA	p.M321I	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.M321I|MED12L_uc003eyo.3_Missense_Mutation_p.M321I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	321					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.M321I(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCACATGATGATAGGACCAA	0.607000														139			52		0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110250264	110250264	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:110250264C>T	uc004bdh.3	-	2	1005	c.384G>A	c.(382-384)tcG>tcA	p.S128S	KLF4_uc004bdf.2_Silent_p.S87S|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Silent_p.S137S	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	137	Ser-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCCGCTGCTCGACGGCGACG	0.697000														11			5		0	0	1	0	0
OR4F17	81099	broad.mit.edu	37	19	110764	110764	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:110764G>A	uc002loc.1	+	0	86	c.86G>A	c.(85-87)gGa>gAa	p.G29E	OR4F17_uc002lob.1_Missense_Mutation_p.G29E	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTATTCTATGGAGGAATCGTG	0.413000														157			52		0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124518793	124518793	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:124518793A>G	uc003yqr.3	-	6	912	c.673T>C	c.(673-675)Ttc>Ctc	p.F225L	FBXO32_uc003yqp.2_Missense_Mutation_p.F80L|FBXO32_uc010mdk.3_Missense_Mutation_p.F132L	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.	225	F-box.									autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGTCAGTGAAGGTGAGGCCT	0.627000														66			17		0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116837244	116837244	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:116837244T>A	uc004bie.4	-	2	596	c.333A>T	c.(331-333)aaA>aaT	p.K111N	AMBP_uc011lxk.2_Missense_Mutation_p.K52N|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	111					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACTTACTGGATTTGTGATAGA	0.433000														32			30		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23437892	23437892	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:23437892C>T	uc002zwu.1	+	1	547	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	4						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CATGGGATGTCGGCAAAGCTC	0.632000														31			16		0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029215	150029215	+	Missense_Mutation	SNP	C	T	T	rs151000816		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:150029215C>T	uc003lsn.3	+	2	2484	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C	SYNPO_uc021yfu.1_Missense_Mutation_p.R704C|SYNPO_uc003lso.4_Missense_Mutation_p.R460C|SYNPO_uc003lsp.3_Missense_Mutation_p.R460C|SYNPO_uc021yfv.1_Missense_Mutation_p.R460C	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	704					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGTCACCCCGCATCCAGGC	0.672000														15			5		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597248	75597249	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:75597248_75597249CC>TT	uc003kei.1	+	11	2012_2013	c.1878_1879CC>TT	c.(1876-1881)ttcctt>ttTTtt	p.L627F		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	627					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.F626S(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCTGTTTCTTCCTTTGGTTCGG	0.480000														111			29		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587426	36587426	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:36587426C>T	uc003aox.3	-	5	975	c.750G>A	c.(748-750)agG>agA	p.R250R	APOL4_uc003aow.3_Silent_p.R247R|APOL4_uc010gww.3_Silent_p.R93R	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	251					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CTTTAGATCTCCTGAGTGTAT	0.463000														44			16		0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143921887	143921887	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:143921887C>T	uc003yxg.3	+	1	124	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	12					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCCATGGAGCTCCCATTGGT	0.577000														66			12		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31477560	31477560	+	Splice_Site	SNP	G	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:31477560G>C	uc003ntn.4	+	6	1141	c.1025_splice	c.e6-1	p.E342_splice	MICB_uc011dnm.2_Splice_Site_p.E310_splice|MICB_uc003nto.4_Splice_Site_p.E299_splice	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	342					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding	p.E342D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTTCTCCAGAGCTTGTGAGCC	0.522000														121			6		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72204733	72204733	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:72204733G>A	uc021rkj.1	-	2	1510	c.1087C>T	c.(1087-1089)Caa>Taa	p.Q363*	DACH1_uc021rkk.1_Nonsense_Mutation_p.Q363*|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	361	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCTCCATGTTGGTTATTACTG	0.408000														185			55		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40430449	40430449	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:40430449C>T	uc002omp.4	-	2	1502	c.1494G>A	c.(1492-1494)atG>atA	p.M498I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	498	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGCTCCACCATCGTGTACG	0.677000														10			8		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85500321	85500321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:85500321G>A	uc001tac.3	+	14	3416	c.3305G>A	c.(3304-3306)tGg>tAg	p.W1102*	LRRIQ1_uc021rbo.1_Nonsense_Mutation_p.W980*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1102										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCCATAAAATGGTTTGATGCA	0.338000														57			21		0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580279	39580279	+	RNA	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr21:39580279G>A	uc010gnt.2	+	2		c.401G>A								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		ATTGTGCAGGGGTTCCCTGCG	0.512000														46			11		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34505	34505	+	RNA	SNP	A	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrGL000241.1:34505A>C	uc011mgv.2	-	2		c.379T>G								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CAACATATCAAGCTGGGTttc	0.289000														38			5		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40141507	40141507	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:40141507G>A	uc002xka.1	-	4	1008	c.830C>T	c.(829-831)tCt>tTt	p.S277F	CHD6_uc002xkd.2_Missense_Mutation_p.S255F|CHD6_uc002xkc.3_Missense_Mutation_p.S312F	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	277					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCCAGTGTAGAGGCTGAGAG	0.502000														236			158		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220824054	220824054	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:220824054A>T	uc009xdw.3	+	13	2160	c.1563A>T	c.(1561-1563)aaA>aaT	p.K521N	MARK1_uc001hmn.4_Missense_Mutation_p.K521N|MARK1_uc010pun.2_Missense_Mutation_p.K521N|MARK1_uc001hmm.4_Missense_Mutation_p.K499N	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	521					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGAATGGAAAAGACAGCAGGT	0.448000														95			17		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153585864	153585864	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:153585864G>A	uc004fkk.2	-	28	5132	c.4883C>T	c.(4882-4884)cCc>cTc	p.P1628L	FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.P1628L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1628					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGGGAGAAGGGGATCTCGTC	0.642000														12			15		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828935	125828935	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:125828935C>T	uc003eim.1	-	19	2389	c.2199G>A	c.(2197-2199)aaG>aaA	p.K733K	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.K632K|ALDH1L1_uc003ein.1_Silent_p.K268K	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	733	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCACCTTCATCTTCCGCACCT	0.572000														103			11		0	0	1	0	0
PROSC	11212	broad.mit.edu	37	8	37630369	37630369	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:37630369T>C	uc003xkh.3	+	4	493	c.416T>C	c.(415-417)tTa>tCa	p.L139S		NM_007198	NP_009129	O94903	PROSC_HUMAN	Homo sapiens proline synthetase co-transcribed homolog (bacterial) (PROSC), mRNA.	139							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CCTGAAAGGTTAAAGGTTATG	0.438000														79			22		0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271935	17271935	+	Missense_Mutation	SNP	G	A	A	rs11545550		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:17271935G>A	uc001iou.2	+	1	927	c.514G>A	c.(514-516)Gag>Aag	p.E172K	BC078172_uc001iot.1_Non-coding_Transcript	NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	172	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCCGCGTCGAGGTGGAGCG	0.672000														20			5		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34128622	34128622	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:34128622T>G	uc001bxm.1	-	25	4300	c.4123A>C	c.(4123-4125)Agc>Cgc	p.S1375R	CSMD2_uc001bxn.1_Missense_Mutation_p.S1335R|CSMD2_uc001bxo.1_Missense_Mutation_p.S248R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1335	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAACCCCGCTCTCCACAGGC	0.592000														89			13		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7681646	7681646	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:7681646C>T	uc002giu.1	+	33	5414	c.5400C>T	c.(5398-5400)tcC>tcT	p.S1800S		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1800	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGGGGGCTCCCCCAAAGGCC	0.582000														36			30		0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389530	1389530	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:1389530C>T	uc003gdf.2	+	0	4191	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	411	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTTTCCTGTCCTGCCGGCCGA	0.527000														93			54		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47582349	47582349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:47582349G>A	uc001cqu.1	+	10	1297	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	432						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATTCTCCAGGGAAAATTCTGA	0.408000														26			9		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1522258	1522258	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:1522258C>T	uc003skn.2	-	26	3728	c.3627G>A	c.(3625-3627)tcG>tcA	p.S1209S	INTS1_uc003skp.1_3'UTR	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1209					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.A1209A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCCTCCTCCGATGTGTCCA	0.642000														47			10		0	0	1	0	0
ZNF322	79692	broad.mit.edu	37	9	99961447	99961447	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:99961447C>T	uc004axd.2	-	0	406	c.347G>A	c.(346-348)gGa>gAa	p.G116E	BC070371_uc004axb.2_5'Flank|BC070371_uc004axc.1_5'Flank|AK309476_uc010msl.1_Intron	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 2, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										TCTCTGATGTCCTGAAAGCAC	0.408000														182			5		0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49510575	49510575	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:49510575A>G	uc002plr.1	+	5	425	c.412A>G	c.(412-414)Atc>Gtc	p.I138V	RUVBL2_uc010yab.2_Missense_Mutation_p.I138V|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.I93V	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	138					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GACGGAGATCATCGAAGGGGA	0.587000														56			7		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11303658	11303658	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:11303658G>A	uc002mqm.3	-	1	1177	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A	KANK2_uc021upe.1_Silent_p.A366A|KANK2_uc002mqo.4_Silent_p.A366A|KANK2_uc002mqp.1_Silent_p.A175A|KANK2_uc002mqq.3_Silent_p.A366A	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	366										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCATTGCCAGGGCCCTCAGCC	0.687000														46			8		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559909	228559909	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:228559909C>T	uc009xez.1	+	93	21474	c.21430C>T	c.(21430-21432)Ccc>Tcc	p.P7144S	OBSCN_uc001hsr.1_Missense_Mutation_p.P1773S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7144					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGCCTGGCCCCTCCCTGGA	0.677000														7			4		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26938429	26938429	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:26938429G>A	uc010crq.2	-	9	914	c.882C>T	c.(880-882)ttC>ttT	p.F294F	SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Intron	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN	Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.	0					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCGCCAGAGAGAAAAGCAAGA	0.488000														12			9		0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975146	31975146	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:31975146G>A	uc021yve.1	+	4	1323	c.761G>A	c.(760-762)gGg>gAg	p.G254E				Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	250							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTCCTGGAAGGGCACTTGCAC	0.602000														269			35		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703008	27703008	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:27703008C>T	uc001itu.2	-	0	290	c.172G>A	c.(172-174)Gga>Aga	p.G58R		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	58					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCCAGGGGTCCTGAGGGTTCG	0.701000														24			18		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81193307	81193307	+	Silent	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:81193307C>A	uc002fgh.1	-	22	3816	c.3816G>T	c.(3814-3816)acG>acT	p.T1272T	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1272					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGATGCCAACCGTGAGGTCCC	0.582000														6			4		0.00024832	0.000251807	1	1	0
FLG2	388698	broad.mit.edu	37	1	152323914	152323915	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:152323914_152323915CC>TT	uc001ezw.4	-	2	6420_6421	c.6347_6348GG>AA	c.(6346-6348)ggg>gAA	p.G2116E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2116							calcium ion binding|structural molecule activity	p.G2116W(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGAGACCCCTGAGTGCAC	0.535000														511			80		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645310	122645310	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:122645310G>A	uc003efz.1	-	8	1369	c.1065C>T	c.(1063-1065)taC>taT	p.Y355Y	SEMA5B_uc011bju.1_Silent_p.Y297Y|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.Y355Y|SEMA5B_uc010hro.1_Silent_p.Y297Y|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	355	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCTCGTTATAGTAGAAGGGGA	0.597000														44			9		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57600439	57600439	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:57600439C>T	uc001snd.3	+	75	12240	c.11774C>T	c.(11773-11775)tCc>tTc	p.S3925F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3925					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACCATCTCCTACCGCAGC	0.607000														55			26		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467763	74467763	+	Silent	SNP	C	T	T	rs138253214		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:74467763C>T	uc002axg.1	+	1	846	c.564C>T	c.(562-564)atC>atT	p.I188I	ISLR_uc002axh.1_Silent_p.I188I|ISLR_uc021sqf.1_Silent_p.I188I	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	188	LRRCT.				cell adhesion	extracellular region		p.I188I(2)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CCTGCGGCATCGTGTGGCTCA	0.637000														40			7		0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633346	106633346	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:106633346G>A	uc001tlk.3	-	1	1349	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	422						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CACCTGCATGGAGAGCACCCC	0.657000														53			24		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113323217	113323217	+	Silent	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:113323217A>T	uc003ynu.3	-	49	8034	c.7875T>A	c.(7873-7875)ccT>ccA	p.P2625P	CSMD3_uc003yns.3_Silent_p.P1827P|CSMD3_uc003ynt.3_Silent_p.P2585P|CSMD3_uc011lhx.2_Silent_p.P2521P|CSMD3_uc003ynw.1_Silent_p.P336P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2625	Sushi 14.					integral to membrane|plasma membrane		p.P2625S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTGACAGGCAGGGACTGGCG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				45			10		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38265520	38265520	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:38265520G>A	uc001wuj.3	+	1	105	c.3G>A	c.(1-3)atG>atA	p.M1I	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.M1I|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTCTTATGATGAAATATTATG	0.234000														7			6		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57441807	57441807	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:57441807G>A	uc001smw.4	-	2	436	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	MYO1A_uc010sqz.2_5'Flank|MYO1A_uc009zpd.3_Nonsense_Mutation_p.Q66*	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	66	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GTATAGTCTTGATATTTGGCA	0.483000														44			9		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154568615	154568616	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:154568615_154568616GG>AA	uc021zhc.1	-	13	1931_1932	c.1426_1427CC>TT	c.(1426-1428)ccc>TTc	p.P476F	CNKSR3_uc003qpw.3_Missense_Mutation_p.P15F|CNKSR3_uc003qpx.3_Missense_Mutation_p.P14F|CNKSR3_uc010kjh.3_Missense_Mutation_p.P15F|CNKSR3_uc021zhd.1_Missense_Mutation_p.P59F|CNKSR3_uc021zhe.1_Intron	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTGACGCAAGGGAACCTGCTGA	0.426000														43			26		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173804030	173804030	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:173804030G>A	uc003isv.3	+	7	1749	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	338	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAAATCTGGGGAGGAGAACAG	0.418000														60			41		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77105508	77105508	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:77105508C>T	uc002lmx.3	+	21	2567	c.2553C>T	c.(2551-2553)ccC>ccT	p.P851P	ATP9B_uc002lmw.1_Silent_p.P851P|ATP9B_uc002lmz.1_Silent_p.P545P|ATP9B_uc002lna.3_5'UTR|ATP9B_uc002lnb.1_5'UTR|ATP9B_uc010drb.3_5'Flank	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	851					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGCTCACCCACCCAGAAGG	0.602000														56			39		0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224842293	224842293	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:224842293G>A	uc010zlr.1	-	7	1297	c.1160C>T	c.(1159-1161)cCt>cTt	p.P387L	SERPINE2_uc002vnu.2_Missense_Mutation_p.P376L|SERPINE2_uc002vnv.2_Missense_Mutation_p.P375L	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	376					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAACAGAAAAGGTCTGTCTAC	0.408000														137			20		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115167889	115167889	+	Silent	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:115167889T>C	uc001efd.1	-	3	1419	c.717A>G	c.(715-717)gaA>gaG	p.E239E	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.E239E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	239										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGTTATTTTCACAGTATT	0.363000														30			34		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751121	19751121	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:19751121G>A	uc009zzj.3	-	3	1107	c.1002C>T	c.(1000-1002)acC>acT	p.T334T		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	334					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCTTGATGGTGGCGATGG	0.527000														77			4		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3652111	3652111	+	Silent	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:3652111G>T	uc002wit.3	-	16	2025	c.1938C>A	c.(1936-1938)gcC>gcA	p.A646A	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.A646A|ADAM33_uc002wis.3_Intron|ADAM33_uc002wiu.3_Intron|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	646	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCTCCTGGAAGGCATTCTTCC	0.647000														77			24		2.52088e-20	2.63013e-20	1	1	0
CTAGE1	64693	broad.mit.edu	37	18	19996183	19996183	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:19996183G>A	uc002ktv.1	-	0	1696	c.1592C>T	c.(1591-1593)cCa>cTa	p.P531L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	531						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGATTCCCTGGGCCTCTGGA	0.532000														141			28		0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444501	26444501	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:26444501C>T	uc003nhz.3	+	3	645	c.402C>T	c.(400-402)taC>taT	p.Y134Y	BTN3A3_uc011dkn.2_Silent_p.Y92Y|BTN3A3_uc021ynh.1_Silent_p.Y92Y	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	134	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GTGACTTCTACGAAAAAGCCC	0.502000														112			5		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088594	86088594	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:86088594C>T	uc021rxf.1	+	0	736	c.736C>T	c.(736-738)Cct>Tct	p.P246S	FLRT2_uc001xvr.3_Missense_Mutation_p.P246S|FLRT2_uc010atd.3_Missense_Mutation_p.P246S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	246					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTCCCACCCTCCTCCCGATCT	0.512000														66			20		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678470	100678470	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:100678470C>T	uc003uxp.1	+	2	3826	c.3773C>T	c.(3772-3774)tCc>tTc	p.S1258F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1258	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAACCAGTTCCTCTCCTACA	0.522000														429			71		0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500146	48500146	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:48500146G>A	uc001zwn.4	+	1	446	c.230G>A	c.(229-231)gGa>gAa	p.G77E	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.3_Missense_Mutation_p.G77E|SLC12A1_uc010uex.2_Missense_Mutation_p.G77E	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	77					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCCAAAGTGGAGAAACTGCT	0.428000														51			21		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17985483	17985483	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:17985483G>A	uc002nhr.4	+	3	833	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	162					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGACCGGGCTGGACATCTGGG	0.607000														36			8		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90041078	90041078	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:90041078C>T	uc003kju.3	+	50	10861	c.10765C>T	c.(10765-10767)Cct>Tct	p.P3589S	GPR98_uc003kjt.3_Missense_Mutation_p.P1295S|GPR98_uc003kjv.3_Missense_Mutation_p.P1189S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3589	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACTTTATTCCTAGGTAGGT	0.338000														51			11		0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3201173	3201173	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:3201173G>A	uc009xhv.2	-	9	1138	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	PITRM1_uc001igr.2_Missense_Mutation_p.P357S|PITRM1_uc001igt.2_Missense_Mutation_p.P357S|PITRM1_uc010qah.2_Missense_Mutation_p.P325S|PITRM1_uc001igu.1_Missense_Mutation_p.P349S|PITRM1_uc010qai.2_Missense_Mutation_p.P328S	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	325					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGAGAATTGGGCCCAGAAGTC	0.413000														46			9		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100701293	100701293	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:100701293C>T	uc003uxp.1	+	12	13503	c.13450C>T	c.(13450-13452)Cag>Tag	p.Q4484*	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4484						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GATCCGAATTCAGAGGCCTCA	0.483000														62			13		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570715	20570715	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:20570715C>T	uc002dhj.4	-	3	442	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	ACSM2B_uc002dhk.4_Missense_Mutation_p.E78K|ACSM2B_uc010bwf.1_Missense_Mutation_p.E78K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CACATTAATTCCTTCCCCTTC	0.557000														15			5		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58298965	58298965	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:58298965G>A	uc001vhq.1	+	3	3909	c.3017G>A	c.(3016-3018)cGa>cAa	p.R1006Q	PCDH17_uc010aec.1_Missense_Mutation_p.R1005Q|PCDH17_uc001vhr.1_Missense_Mutation_p.R95Q	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1006					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAAGACAAGCGAGAGCACACT	0.448000														57			13		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590082	140590082	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140590082G>A	uc003liz.3	+	0	1792	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N	PCDHB12_uc011dak.2_Missense_Mutation_p.D198N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	535	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGCCACAGACCACGGCTC	0.672000														62			25		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53975665	53975665	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:53975665G>A	uc001cvr.1	-	7	1961	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	465	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CCCCTTCAGGGGGCTGACTAT	0.692000														9			5		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226897	149226897	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:149226897C>T	uc002twm.4	+	8	2382	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	462						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGATCACGCTCATCTTCCACA	0.522000														33			9		0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31815594	31815594	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:31815594C>T	uc009yjr.3	-	8	1220	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	PAX6_uc001mtd.4_Missense_Mutation_p.E251K|PAX6_uc001mte.4_Missense_Mutation_p.E251K|PAX6_uc001mtg.4_Missense_Mutation_p.E265K|PAX6_uc001mtf.4_Missense_Mutation_p.E251K|PAX6_uc001mth.4_Missense_Mutation_p.E251K|PAX6_uc021qfl.1_Missense_Mutation_p.E265K|PAX6_uc021qfm.1_Missense_Mutation_p.E265K|PAX6_uc021qfn.1_Missense_Mutation_p.E251K	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	251					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATTCTTGCTTCAGGTAGATCT	0.408000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					102			53		0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	59787382	59787382	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:59787382C>T	uc009wac.3	+	1	373	c.161C>T	c.(160-162)tCc>tTc	p.S54F	FGGY_uc001czg.2_5'UTR|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.S54F|FGGY_uc001czl.4_Missense_Mutation_p.S54F	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	54					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	p.A53A(1)|p.G54E(1)|p.A53T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CATGAGCAGTCCTCCGAGGAC	0.532000														18			7		0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61236123	61236123	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:61236123G>A	uc010fci.3	-	2	214	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	PUS10_uc002sao.3_Silent_p.L52L|PUS10_uc010ypk.2_5'UTR	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	52					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCAGTTTCCAGAAATTTCTGT	0.348000														15			4		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572412	38572412	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:38572412C>T	uc002ohk.3	+	2	716	c.207C>T	c.(205-207)ccC>ccT	p.P69P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	69					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCCCAGCCCCACCACTCCCG	0.716000														18			5		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49208268	49208268	+	Silent	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:49208268T>C	uc001ngy.3	-	4	828	c.567A>G	c.(565-567)gaA>gaG	p.E189E	FOLH1_uc009yly.3_Silent_p.E174E|FOLH1_uc009ylz.3_Silent_p.E174E|FOLH1_uc001ngz.3_Silent_p.E189E|FOLH1_uc009yma.3_5'UTR	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	189					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCATGTCCCGTTCCAATTTAA	0.348000														63			5		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35554884	35554884	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:35554884G>A	uc011dte.1	-	7	970	c.767C>T	c.(766-768)tCc>tTc	p.S256F	FKBP5_uc003okx.2_Missense_Mutation_p.S256F|FKBP5_uc011dtf.1_Missense_Mutation_p.S77F|FKBP5_uc003oky.2_Missense_Mutation_p.S256F|FKBP5_uc003okz.2_Missense_Mutation_p.P226S	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	256					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CATCTCCCAGGATTCTTTGGC	0.428000														153			34		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149915967	149915967	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:149915967G>A	uc001etn.3	-	11	2677	c.2321C>T	c.(2320-2322)tCc>tTc	p.S774F		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	774					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ATTGCTATAGGAATCAGCCAC	0.592000														54			23		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149839	18149839	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:18149839G>A	uc001bat.3	+	1	552	c.336G>A	c.(334-336)aaG>aaA	p.K112K		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	112						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGGACCGAAAGAAGATGCTGG	0.582000														39			8		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239262	3239262	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:3239262C>T	uc004crg.4	-	4	4621	c.4464G>A	c.(4462-4464)atG>atA	p.M1488I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1488						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGCTCCTTCATCCGGGCAG	0.493000														29			11		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896865	153896865	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:153896865A>T	uc003inf.2	+	10	2497	c.2422A>T	c.(2422-2424)Atg>Ttg	p.M808L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	808					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGGCTCCATGTCCTCTGG	0.647000														118			19		0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4431850	4431850	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:4431850G>A	uc021tch.1	+	0	972	c.972G>A	c.(970-972)gaG>gaA	p.E324E	CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_Silent_p.E324E	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	Homo sapiens vasorin (VASN), mRNA.	324	LRRCT.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						CCAGCCCTGAGGAGACGCGCT	0.682000														24			4		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89938673	89938673	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:89938673G>A	uc003kju.3	+	13	2464	c.2368_splice	c.e13-1	p.E790_splice	GPR98_uc003kjt.3_Splice_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	790					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTTTTAAAGGAAGGAGAATC	0.373000														81			18		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201016272	201016272	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:201016272G>A	uc001gvv.3	-	37	4866	c.4639C>T	c.(4639-4641)Cgg>Tgg	p.R1547W		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1547					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTCTTGGGCCGATAGCCATAA	0.517000														117			18		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446754	226446754	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:226446754C>T	uc002voe.2	+	3	796	c.621C>T	c.(619-621)ttC>ttT	p.F207F	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	207																	GCACATCTTTCGATGAAACGT	0.567000														242			29		0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131324	147131324	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:147131324G>A	uc003ewe.3	+	2	2049	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	444					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N443K(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAATTTTAACGAATGGTACGT	0.473000														73			7		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15654826	15654826	+	Silent	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:15654826A>G	uc002nbh.4	+	8	1151	c.984A>G	c.(982-984)gaA>gaG	p.E328E		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	328						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.E328K(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TCCGAGCCGAAGCAGACACCT	0.547000														54			9		0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36883943	36883943	+	Silent	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:36883943T>G	uc002ody.1	-	4	1534	c.1299A>C	c.(1297-1299)ctA>ctC	p.L433L		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTGAAAGTAGTCTGAAGG	0.408000														75			19		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61823266	61823266	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:61823266G>A	uc002eog.2	-	7	2353	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	CDH8_uc002eoh.3_Silent_p.I235I	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAGTAGCAATGATTGTTATGT	0.403000														58			10		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813004	176813005	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:176813004_176813005GG>AA	uc003mgk.4	+	2	230_231	c.126_127GG>AA	c.(124-129)ccgggg>ccAAgg	p.G43R	SLC34A1_uc021yis.1_Missense_Mutation_p.G43R	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	43					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGATCCCGGGGACCTCTGC	0.688000														73			6		0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634823	122634823	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:122634823C>T	uc003vkl.1	-	0	932	c.866G>A	c.(865-867)gGa>gAa	p.G289E		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	289					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTAGCACTTTCCCTTTAGAAT	0.418000														120			47		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730400	5730400	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:5730400C>T	uc001mbr.3	+	7	1398	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.S168F|TRIM22_uc009yes.3_Missense_Mutation_p.S336F|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	340	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGTGATTTTTCTGCTTTTGGT	0.443000														80			12		0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38275784	38275784	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:38275784C>T	uc022aua.1	-	9	2334	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E	FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Silent_p.E495E|FGFR1_uc011lbv.2_Silent_p.E462E|FGFR1_uc011lbw.2_Silent_p.E375E|FGFR1_uc003xlp.3_Silent_p.E462E|FGFR1_uc022aub.1_Silent_p.E462E|FGFR1_uc022auc.1_Silent_p.E375E|FGFR1_uc022aud.1_Silent_p.E373E|FGFR1_uc010lwk.3_Silent_p.E454E	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	464					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTTCGGGAAGCTCATACTCAG	0.537000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							99			24		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169417815	169417815	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:169417815G>A	uc002uec.1	+	2	514	c.390G>A	c.(388-390)acG>acA	p.T130T	CERS6_uc002ueb.1_Silent_p.T130T	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	130	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCACGCTGACGAGGTTCTGTG	0.463000														85			17		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38928152	38928152	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:38928152G>A	uc002hvf.3	-	0	260	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	72	Gly-rich.|Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TCATTGCCAAGAAAACCAGCA	0.522000														106			19		0	0	1	0	0
PLGRKT	55848	broad.mit.edu	37	9	5361160	5361160	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:5361160G>A	uc003zjc.3	-	4	521	c.240C>T	c.(238-240)ttC>ttT	p.F80F	PLGRKT_uc003zjd.3_Silent_p.F80F	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN	Homo sapiens chromosome 9 open reading frame 46 (C9orf46), mRNA.	80						integral to membrane											TCGGGACCAGGAAGGCTGGCT	0.343000														36			9		0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78734972	78734972	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:78734972C>T	uc003kfy.3	-	5	1491	c.388_splice	c.e5-1	p.E130_splice	HOMER1_uc010jab.3_Splice_Site_p.E130_splice|HOMER1_uc010jac.3_Intron|HOMER1_uc010jad.3_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	130					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CCTGCGGATTCCTTTAAAAAA	0.408000														46			11		0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157820545	157820545	+	Silent	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:157820545A>G	uc003fbs.3	-	2	688	c.549T>C	c.(547-549)ttT>ttC	p.F183F	SHOX2_uc003fbr.3_Silent_p.F159F|SHOX2_uc010hvw.3_Silent_p.F159F	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	159					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GGGTCTCGTCAAAAAGCCTCT	0.582000														109			8		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651282	142651282	+	Missense_Mutation	SNP	C	T	T	rs61729044		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:142651282C>T	uc003wcb.3	-	7	1123	c.913G>A	c.(913-915)Gac>Aac	p.D305N		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	305					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.D305E(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTGAGCTGGTCGATAGTGACC	0.557000														36			4		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3828306	3828306	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:3828306G>A	uc003zhx.1	-	10	3472	c.2759C>T	c.(2758-2760)cCt>cTt	p.P920L	GLIS3_uc010mhf.1_Missense_Mutation_p.P314L|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.P765L	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	765					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAGCTGGCTAGGACAGCGGTC	0.537000														24			6		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97167461	97167461	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:97167461T>G	uc010how.1	+	6	1824	c.1781T>G	c.(1780-1782)gTc>gGc	p.V594G	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	499						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCCCCCAGTGTCATCATCACA	0.443000														90			11		0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83754240	83754240	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:83754240G>A	uc003pjp.2	-	3	612	c.504C>T	c.(502-504)ttC>ttT	p.F168F	UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjr.3_Silent_p.F136F	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	168						cytoplasm	ligase activity										AATTCACCAAGAAGAAAGAGT	0.418000														94			14		0	0	1	0	0
COMMD4	54939	broad.mit.edu	37	15	75632213	75632213	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:75632213C>T	uc002azy.3	+	6	610	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Intron|COMMD4_uc002baa.3_Intron|COMMD4_uc010umg.2_3'UTR	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	Homo sapiens COMM domain containing 4 (COMMD4), mRNA.	185	COMM.					cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CCAGGTCCTCCTGGCAGGTGA	0.642000														44			26		0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681796	91681796	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:91681796C>T	uc001xyw.2	+	12	1964	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L	C14orf159_uc001xyz.2_Silent_p.L409L|C14orf159_uc001xzb.2_Silent_p.L533L|C14orf159_uc001xyx.2_Silent_p.L481L|C14orf159_uc001xzc.2_Silent_p.L533L|C14orf159_uc001xza.2_Silent_p.L538L|C14orf159_uc001xyv.2_Silent_p.L498L|C14orf159_uc001xze.2_Silent_p.L533L	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	533						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		ACTCTACATCCTGTACTCATG	0.542000														59			25		0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113847728	113847728	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:113847728G>A	uc003ebd.2	-	7	1461	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	DRD3_uc010hqn.1_Silent_p.F346F|DRD3_uc003ebb.1_Silent_p.F313F|DRD3_uc003ebc.1_Silent_p.F346F	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	346	Agonist binding.				G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CATGGGTCAAGAAGAAGGGCA	0.498000														164			53		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903346	4903346	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:4903346C>A	uc010qyp.2	+	0	298	c.298C>A	c.(298-300)Cta>Ata	p.L100I		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTGTTGATCTATGTCTGAC	0.448000														43			7		4.68919e-08	4.82274e-08	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107049701	107049701	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:107049701G>T	uc010ywi.1	-	15	2303	c.2246C>A	c.(2245-2247)tCa>tAa	p.S749*		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	749					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGCATGACTGACTTAAGCAT	0.358000														247			44		2.14255e-21	2.2426e-21	1	1	0
DBC1	1620	broad.mit.edu	37	9	121930123	121930123	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:121930123C>T	uc004bkc.2	-	7	1981	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	509					cell cycle arrest|cell death	cytoplasm	protein binding	p.E509D(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGGCGGATCTCGTTGCTGATG	0.552000														45			7		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134074074	134074074	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:134074074C>T	uc004cag.3	+	28	5304	c.5193C>T	c.(5191-5193)gtC>gtT	p.V1731V	NUP214_uc004cah.3_Silent_p.V1721V|NUP214_uc004cai.3_Silent_p.V1161V|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Silent_p.V557V|NUP214_uc011mcf.1_Silent_p.V508V|NUP214_uc010mzh.1_Silent_p.V245V|NUP214_uc010mzi.1_Silent_p.V245V	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1731	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGGCCTCAGTCTTTGGGCAGT	0.597000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									75			19		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065183	23065183	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:23065183G>A	uc002wsv.3	-	0	1795	c.1647C>T	c.(1645-1647)atC>atT	p.I549I		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	549					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGCGTGATGGATGCTGGGCT	0.627000														83			32		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632953	169632953	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:169632953C>T	uc011cjx.2	+	9	2054	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S	PALLD_uc003iru.3_Missense_Mutation_p.P615S|PALLD_uc003irv.3_Missense_Mutation_p.P233S	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	615					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.P615P(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CGGAGTCCATCCCAGCCGTGG	0.507000									Pancreatic Cancer, Familial Clustering of					33			21		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176516672	176516672	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:176516672G>A	uc003mfl.3	+	1	236	c.69G>A	c.(67-69)gaG>gaA	p.E23E	FGFR4_uc003mfm.3_Silent_p.E23E|FGFR4_uc011dfu.2_Silent_p.E23E|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Silent_p.E23E|FGFR4_uc011dfw.1_Silent_p.E23E|FGFR4_uc003mfo.3_Silent_p.E23E	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	23	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGTCCCTGGAGGCCTCTGAGG	0.642000										TSP Lung(9;0.080)				15			7		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65401774	65401774	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:65401774T>G	uc001oey.2	+	27	4648	c.4648T>G	c.(4648-4650)Ttt>Gtt	p.F1550V	PCNXL3_uc001oez.2_Missense_Mutation_p.F437V|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1550						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCTGCCCTCCTTTTGTGCTGT	0.657000														10			5		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57351007	57351007	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:57351007C>T	uc001smi.4	-	0	412	c.240G>A	c.(238-240)gtG>gtA	p.V80V	RDH16_uc009zpa.3_Missense_Mutation_p.D22N	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	80					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CATCCAGGGTCACCGTCTCCA	0.592000														77			65		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718530	117718530	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:117718530C>T	uc001twn.2	-	8	2235	c.1524_splice	c.e8+1	p.E508_splice	NOS1_uc021ren.1_Splice_Site_p.E172_splice|NOS1_uc021reo.1_Splice_Site_p.E172_splice|NOS1_uc001twm.2_Splice_Site_p.E508_splice	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	508					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACGCTCGCACCTCTGTGAACT	0.592000														115			15		0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	28017827	28017827	+	Silent	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:28017827T>C	uc003xgo.4	+	12	1487	c.1339T>C	c.(1339-1341)Ttg>Ctg	p.L447L	ELP3_uc003xgn.4_Silent_p.L432L|ELP3_uc011las.2_Silent_p.L328L|ELP3_uc011lat.2_Silent_p.L328L|ELP3_uc011laq.2_Silent_p.L375L|ELP3_uc011lar.2_Silent_p.L355L	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	447	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TCAAGACATTTTGATTGGCCT	0.433000														64			7		0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34552752	34552752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:34552752C>T	uc003zup.2	-	7	1163	c.869G>A	c.(868-870)tGg>tAg	p.W290*	CNTFR_uc003zuq.2_Nonsense_Mutation_p.W290*|CNTFR_uc022bgg.1_Nonsense_Mutation_p.W290*	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	290	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CCAGTCACTCCATGTCCCAAT	0.632000														76			29		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10877478	10877478	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:10877478A>G	uc003mzn.4	-	1	310	c.238T>C	c.(238-240)Tcg>Ccg	p.S80P	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	80					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CCCAGGCACGACTTCTTGAGG	0.617000														62			33		0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624176	53624176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:53624176C>T	uc001vhl.3	+	4	899	c.803C>T	c.(802-804)tCt>tTt	p.S268F	OLFM4_uc001vhk.2_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	268	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGAGGGTTTTCTTATCTATAT	0.468000														78			6		0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37844120	37844120	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:37844120G>A	uc002hsj.3	-	0	191	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.R50C|PGAP3_uc002hsk.3_Missense_Mutation_p.R50C|PGAP3_uc010cvz.3_Missense_Mutation_p.R50C|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	50					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TGGCGGGAGCGGAAGTGATTC	0.657000														1			4		0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130929996	130929996	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:130929996G>A	uc002tqq.2	-	7	1851	c.702C>T	c.(700-702)ttC>ttT	p.F234F	SMPD4_uc002tqp.2_5'UTR|SMPD4_uc010yzy.2_Intron|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_Silent_p.F102F|SMPD4_uc002tqr.2_Silent_p.F234F|SMPD4_uc010zaa.2_Silent_p.F121F|SMPD4_uc010zab.2_Silent_p.F161F|SMPD4_uc002tqt.2_Silent_p.F112F|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	195					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity	p.W233C(1)		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)	CGGTGGGCAGGAACCATGACA	0.582000														29			6		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272030	233272030	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:233272030C>T	uc002vss.4	+	2	272	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	73					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTGCCAGGATCCTAAAAGGGC	0.602000														68			10		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854355	40854355	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:40854355C>T	uc003jmg.3	+	2	2996	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	974	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGACAAAATCCTGTCAGTCC	0.522000														185			73		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650893	93650893	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:93650893C>T	uc004aqz.3	+	12	2024	c.1819C>T	c.(1819-1821)Ctg>Ttg	p.L607L	SYK_uc004ara.3_Silent_p.L584L|SYK_uc004arb.3_Silent_p.L584L|SYK_uc004arc.3_Silent_p.L607L|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	607	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCTCATGAATCTGTGCTGGAC	0.473000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									10			4		0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65874423	65874423	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:65874423G>A	uc001dce.1	+	16	2792	c.2591G>A	c.(2590-2592)aGa>aAa	p.R864K	DNAJC6_uc001dcd.1_Missense_Mutation_p.R807K|DNAJC6_uc010opc.1_Missense_Mutation_p.R794K	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	807	J.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GCTGAGATGAGAAAGGAGGAA	0.433000														33			16		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133785973	133785973	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:133785973A>C	uc011ecs.2	+	9	1097	c.781A>C	c.(781-783)Acg>Ccg	p.T261P	EYA4_uc011ecq.2_Missense_Mutation_p.T207P|EYA4_uc011ecr.2_Missense_Mutation_p.T207P|EYA4_uc003qec.4_Missense_Mutation_p.T261P|EYA4_uc003qed.4_Missense_Mutation_p.T261P|EYA4_uc003qee.4_Missense_Mutation_p.T238P|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	261					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTCCAATTCAACGAATTTCAG	0.303000														18			6		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22846965	22846965	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:22846965G>A	uc002nqw.3	+	3	738	c.494G>A	c.(493-495)gGa>gAa	p.G165E		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTCATAGTGGAGAGAAACCC	0.333000														16			3		0	0	1	0	0
MOSPD2	158747	broad.mit.edu	37	X	14937839	14937839	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:14937839C>T	uc004cwi.3	+	14	1589	c.1465C>T	c.(1465-1467)Cag>Tag	p.Q489*	MOSPD2_uc004cwj.3_Nonsense_Mutation_p.Q426*	NM_152581	NP_001170946	Q8NHP6	MSPD2_HUMAN	Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA.	489						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGACCAAGTTCAGCGTTGTAT	0.393000														78			92		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214878744	214878744	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:214878744C>T	uc002veq.3	+	12	1562	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	SPAG16_uc010fuz.2_Silent_p.S341S|SPAG16_uc002ver.3_Silent_p.S436S|SPAG16_uc010zjk.2_Silent_p.S396S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	490					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTCCTTTCTCCAATACTCTTC	0.363000														108			17		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128187	3128187	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:3128187G>A	uc021vzx.1	-	0	1530	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.L510L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	510					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GTTCCTTAAGGAGGTCAAACT	0.453000														37			9		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297576	36297576	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:36297576C>T	uc002obx.1	-	7	1080	c.1062_splice	c.e7+1	p.K354_splice		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	354					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACACTGCACACCTTTAGACAG	0.652000														45			11		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153554	139153554	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:139153554G>A	uc003yuy.3	-	16	3848	c.3677C>T	c.(3676-3678)tCg>tTg	p.S1226L	FAM135B_uc003yux.3_Missense_Mutation_p.S1127L|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1226										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTGAGGACCGATCGGATGAT	0.547000										HNSCC(54;0.14)				59			24		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54851971	54851971	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:54851971G>A	uc002rxu.3	+	10	1462	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	SPTBN1_uc002rxv.1_Missense_Mutation_p.E405K|SPTBN1_uc002rxx.3_Missense_Mutation_p.E392K	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	405					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCGGAACACGAAAGAGAACT	0.473000														24			12		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873216	55873216	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:55873216G>A	uc010riy.2	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCCACTTCAGGAAAGCAGAAA	0.368000										HNSCC(53;0.14)				30			15		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733095	152733095	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:152733095C>T	uc001fal.1	+	1	1089	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	KPRP_uc021ozf.1_Missense_Mutation_p.P344L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	344	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGGTGTCCTGTTGAGATT	0.657000														47			24		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175306679	175306679	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:175306679G>A	uc001gkp.1	-	16	3600	c.3519C>T	c.(3517-3519)gaC>gaT	p.D1173D	TNR_uc009wwu.1_Silent_p.D1173D	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1173	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCGCCCCCGTCGGTGGTCA	0.502000														63			23		0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9557371	9557371	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:9557371G>A	uc002koe.1	-	14	2156	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	PPP4R1_uc002kof.2_Nonsense_Mutation_p.R97*|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.R526*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.R663*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	680					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						AGAGTTCGTCGAACTTTCCAC	0.358000														92			18		0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158364577	158364577	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:158364577T>C	uc003fce.3	+	3	520	c.413T>C	c.(412-414)tTg>tCg	p.L138S	GFM1_uc003fcd.3_Missense_Mutation_p.L138S|GFM1_uc003fcg.3_Missense_Mutation_p.L50S	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	138					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGAGAGTGTTGGATGGTGCA	0.448000														32			6		0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111899872	111899872	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:111899872C>T	uc004bdw.1	-	4	898	c.898G>A	c.(898-900)Gct>Act	p.A300T		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	Homo sapiens chromosome 9 open reading frame 4 (C9orf4), mRNA.	300						integral to membrane											CGCTCTGAAGCCGGCGGTGAG	0.388000														106			24		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29365202	29365202	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:29365202C>T	uc003nmf.4	+	0	787	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S242T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTTGTGCCTCCCACTTCATGG	0.433000														128			28		0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150940569	150940570	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:150940569_150940570GG>AA	uc001evy.3	-	3	825_826	c.399_400CC>TT	c.(397-402)ttccga>ttTTga	p.R134*	CERS2_uc001evz.3_Nonsense_Mutation_p.R134*|CERS2_uc009wmh.3_5'UTR	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.	134	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTGGCTTCTCGGAACTTCTTGA	0.619000														72			20		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134898705	134898705	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:134898705C>T	uc003eqt.3	+	9	2138	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	EPHB1_uc003equ.3_Missense_Mutation_p.S149F	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	588						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAACAAGGCTCCCCAGGGATG	0.493000														169			54		0	0	1	0	0
NF1P2	440225	broad.mit.edu	37	15	21134198	21134198	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:21134198C>T	uc001ytv.1	-	2		c.308_splice	c.e2+1							Homo sapiens neurofibromin 1 pseudogene 2 (NF1P2), non-coding RNA.																		ATGCACTTACCCACTGAGAAC	0.433000														90			16		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56528177	56528177	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:56528177C>T	uc001sjr.3	+	14	1745	c.1627C>T	c.(1627-1629)Cta>Tta	p.L543L	ESYT1_uc001sjq.3_Silent_p.L533L	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	533	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCGGTTCTTCCTACAAGACCC	0.507000														198			23		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974126	35974126	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:35974126C>T	uc004ddj.3	+	7	1289	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	408										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACAGGACTTCCTGTTTTACTA	0.373000														35			53		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524501	112524501	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:112524501G>A	uc001ebu.1	-	1	1328	c.848C>T	c.(847-849)tCc>tTc	p.S283F	KCND3_uc001ebv.1_Missense_Mutation_p.S283F	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	283						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GAAGGCGCCGGACACGTCCTC	0.602000														47			49		0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1175199	1175199	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:1175199C>T	uc009xhm.1	+	13	1576	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	WDR37_uc001igf.1_Missense_Mutation_p.P467L|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	467										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GAAGACCACCCCGTGTGCAAT	0.483000														47			19		0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498827	75498827	+	Silent	SNP	G	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:75498827G>C	uc002azp.4	+	1	758	c.438G>C	c.(436-438)ctG>ctC	p.L146L	C15orf39_uc002azq.4_Silent_p.L146L|C15orf39_uc021sqm.1_5'UTR|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	146										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAACTTGTCTGGGGGAAGGAG	0.627000														58			5		0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239054411	239054411	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:239054411T>A	uc002vxr.2	+	4	1195	c.1088T>A	c.(1087-1089)aTg>aAg	p.M363K		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	363										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTGGCGCCCATGCTGAAGCCC	0.667000														11			4		0	0	1	0	0
GSTO1	9446	broad.mit.edu	37	10	106015023	106015023	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:106015023G>A	uc001kya.3	+	1	356	c.137G>A	c.(136-138)gGa>gAa	p.G46E	GSTO1_uc021pxr.1_Missense_Mutation_p.G18E|GSTO1_uc021pxs.1_Missense_Mutation_p.G46E	NM_004832	NP_001177932	P78417	GSTO1_HUMAN	Homo sapiens glutathione S-transferase omega 1 (GSTO1), transcript variant 1, mRNA.	46	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	AAGGCCAAGGGAATCAGGTGG	0.711000														45			9		0	0	1	0	0
SPACA7	122258	broad.mit.edu	37	13	113030777	113030777	+	Silent	SNP	G	A	A	rs146975122	byFrequency	TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:113030777G>A	uc001vsd.2	+	0	127	c.78G>A	c.(76-78)ccG>ccA	p.P26P		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	26						extracellular region		p.R25W(1)		large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AGCTCCGGCCGAGAACCGTGA	0.597000														21			5		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233750003	233750003	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:233750003G>A	uc010pxo.1	+	0	254	c.86G>A	c.(85-87)gGc>gAc	p.G29D		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	29						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CTGGTGCTGGGCTACTTGCTC	0.677000														34			7		0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272327	43272327	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:43272327G>A	uc010gzg.3	-	9	1386	c.1164C>T	c.(1162-1164)taC>taT	p.Y388Y	PACSIN2_uc003bdg.4_Silent_p.Y388Y|PACSIN2_uc003bdf.4_Silent_p.Y347Y	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA.	388					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GGGTCTTCTCGTAGCTGCTCA	0.632000														74			25		0	0	1	0	0
GUCA1B	2979	broad.mit.edu	37	6	42162358	42162358	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:42162358C>T	uc003orz.3	-	0	337	c.201G>A	c.(199-201)aaG>aaA	p.K67K		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	Homo sapiens guanylate cyclase activator 1B (retina) (GUCA1B), mRNA.	67	EF-hand 2.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.K67N(2)		large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TTACCCCATTCTTGTCGAAGG	0.572000														49			17		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632481	122632481	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:122632481G>A	uc003efz.1	-	15	2484	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F	SEMA5B_uc011bju.1_Missense_Mutation_p.S669F|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.S727F|SEMA5B_uc010hro.1_Missense_Mutation_p.S669F|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	727	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGAGCCCCAGGAAGCCCAGAA	0.672000														22			13		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207620021	207620021	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:207620021C>T	uc002vbs.3	-	4	677	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Missense_Mutation_p.A208T|MDH1B_uc021vvm.1_Missense_Mutation_p.A110T	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	208					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATGACGTGGGCCTGGCGGAAG	0.587000														28			9		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98145939	98145939	+	Missense_Mutation	SNP	C	T	T	rs61738801	byFrequency	TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:98145939C>T	uc001kml.2	-	14	2127	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	629	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGTGATGGTTCCATTCAGCTT	0.547000														60			33		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220355525	220355525	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:220355525G>A	uc010fwg.3	+	37	9232	c.9232G>A	c.(9232-9234)Ggc>Agc	p.G3078S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3078	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTACCTCCACGGCCACCACGT	0.577000														80			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516203	179516203	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179516203T>G	uc021vsy.1	-	160	32447	c.32222A>C	c.(32221-32223)aAg>aCg	p.K10741T	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11668	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R10740T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTCTGGCTTTTTGGGAAC	0.478000														61			18		0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1479899	1479899	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:1479899G>A	uc002fsu.3	-	13	1859	c.1552C>T	c.(1552-1554)Cct>Tct	p.P518S	SLC43A2_uc002fsv.3_Missense_Mutation_p.P514S	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA.	514					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		ACCCACAGAGGGTCTCCCTGG	0.662000														28			22		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629042	47629042	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:47629042C>T	uc001rpq.3	+	1	721	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	FAM113B_uc001rpn.3_Nonsense_Mutation_p.Q66*|FAM113B_uc021qxi.1_Nonsense_Mutation_p.Q66*	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	66							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GGACGGAGGCCAGCGGGGCCA	0.607000														57			23		0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47101807	47101807	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:47101807G>A	uc002ldv.3	+	4	892	c.640G>A	c.(640-642)Gat>Aat	p.D214N	LIPG_uc002ldu.1_Missense_Mutation_p.D214N|LIPG_uc010xdh.2_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	214					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GGACGATGCAGATTTTGTGGA	0.562000														51			17		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308755	248308755	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:248308755C>T	uc010pze.2	+	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CACAAATTTTCTTCTATGTAT	0.458000														298			143		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640771	179640771	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179640771C>T	uc021vsy.1	-	27	6045	c.5820G>A	c.(5818-5820)agG>agA	p.R1940R	TTN_uc021vsz.1_Silent_p.R1894R|TTN_uc021vta.1_Silent_p.R1894R|TTN_uc021vtb.1_Silent_p.R1894R|TTN_uc002unb.2_Silent_p.R1940R|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1940							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T1940T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGCTCTCCTAAGGACAG	0.453000														156			37		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420865	11420865	+	Silent	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:11420865T>C	uc001qzs.3	-	2	356	c.318A>G	c.(316-318)ggA>ggG	p.G106G	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	106	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			ACTGGTTTCCTCCTTGTGGGG	0.632000														524			43		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906710	129906710	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:129906710G>A	uc001lke.3	-	12	3589	c.3394C>T	c.(3394-3396)Cca>Tca	p.P1132S	MKI67_uc001lkf.3_Missense_Mutation_p.P772S|MKI67_uc009yav.1_Missense_Mutation_p.P707S|MKI67_uc009yaw.1_Missense_Mutation_p.P282S	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1132	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTGGTGGTGGAGATTTGCAG	0.463000														172			130		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994042	140994042	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:140994042C>T	uc004fbt.3	+	3	1176	c.852C>T	c.(850-852)ttC>ttT	p.F284F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	284							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.493000										HNSCC(15;0.026)				37			18		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215039	3215039	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:3215039G>A	uc002klp.3	-	1	517	c.183C>T	c.(181-183)ttC>ttT	p.F61F	MYOM1_uc002klq.3_Silent_p.F61F	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	61						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACGCCCGACGGAAGGCCTCGG	0.682000														42			32		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435665	158435665	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:158435665T>C	uc010pij.2	+	0	314	c.314T>C	c.(313-315)cTc>cCc	p.L105P		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTTTCCTTCCTCTTCTTTGGC	0.502000														169			4		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2774947	2774947	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:2774947G>A	uc002wgu.3	-	13	2168	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	CPXM1_uc010gas.3_Silent_p.F624F	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	698					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGGTGAGCACGAAATTGCAGG	0.642000														27			24		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30867933	30867933	+	Silent	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:30867933T>C	uc001rji.1	-	14	3361	c.2610A>G	c.(2608-2610)agA>agG	p.R870R	CAPRIN2_uc001rjf.1_Silent_p.R666R|CAPRIN2_uc001rjg.1_Silent_p.R537R|CAPRIN2_uc001rjh.1_Silent_p.R820R|CAPRIN2_uc001rjk.4_Silent_p.R869R|CAPRIN2_uc001rjj.1_Silent_p.R536R|CAPRIN2_uc001rjl.4_Silent_p.R814R|CAPRIN2_uc001rjm.1_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	870					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGGTTATTAATCTCCCACCAC	0.428000														102			27		0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113890705	113890705	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:113890705G>A	uc003ebd.2	-	2	558	c.135C>T	c.(133-135)ttC>ttT	p.F45F	DRD3_uc010hqn.1_Silent_p.F45F|DRD3_uc003ebb.1_Silent_p.F45F|DRD3_uc003ebc.1_Silent_p.F45F	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	45					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.F45Y(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGCCATTGCCGAAGACGATGG	0.612000														63			15		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170127589	170127589	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:170127589G>A	uc002ues.3	-	15	2358	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	715					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGCAACTTGGGATGAAAAAA	0.433000														33			12		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275940	150275940	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:150275940A>C	uc021yfx.1	-	6	1337	c.909T>G	c.(907-909)caT>caG	p.H303Q	ZNF300_uc021yfy.1_Missense_Mutation_p.H287Q|ZNF300_uc021yfz.1_Missense_Mutation_p.H251Q	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCTTTGATGTACAATGA	0.368000														69			7		0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9226362	9226362	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:9226362G>A	uc021uoi.1	-	0	78	c.78C>T	c.(76-78)atC>atT	p.I26I	OR7G1_uc002mks.1_Silent_p.I26I	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGCTGAAAGGGATTAACTTCA	0.483000														90			13		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965706	102965706	+	Splice_Site	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:102965706G>T	uc002tbu.1	+	10	1556	c.1285_splice	c.e10+1	p.D429_splice	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	429	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACCTGGAGAAGGTAAAGCTAT	0.388000														55			14		1.15088e-07	1.18179e-07	1	1	0
DFNA5	1687	broad.mit.edu	37	7	24738754	24738754	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:24738754C>T	uc010kus.1	-	9	1470	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K	DFNA5_uc003sxa.1_Missense_Mutation_p.R461K|DFNA5_uc010kut.1_Missense_Mutation_p.R297K	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	461					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGACTTCAGTCTCTCCAGACT	0.453000														31			23		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90342782	90342782	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:90342782C>T	uc002bop.4	-	12	2120	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	610	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTGAAGAGATCGTTCTGGGCT	0.592000														95			49		0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376523	75376523	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:75376523C>T	uc010tux.2	-	6	1521	c.993G>A	c.(991-993)agG>agA	p.R331R	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_Silent_p.R83R|RPS6KL1_uc021rwp.1_Silent_p.R300R	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	331	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GGCCAGCCCTCCTAGCTTGAA	0.682000														9			7		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413237	72413237	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:72413237C>T	uc003twk.2	+	10	2705	c.2705C>T	c.(2704-2706)tCc>tTc	p.S902F	POM121_uc003twj.3_Missense_Mutation_p.S637F|POM121_uc010lam.1_Missense_Mutation_p.S637F	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	902	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCAGCCAGTCCCTGCACACT	0.647000														234			72		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168278023	168278023	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:168278023G>A	uc001gfl.3	+	6	1011	c.960G>A	c.(958-960)tcG>tcA	p.S320S	TBX19_uc001gfj.4_Silent_p.S188S|TBX19_uc001gfm.3_Silent_p.S23S	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	320					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AAGTTTTCTCGGGACCTGACA	0.463000														77			25		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	654081	654081	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:654081C>T	uc001qii.1	+	4	481	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	B4GALNT3_uc001qij.1_Missense_Mutation_p.P63S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	161						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGCTGTGTCCCCCAAATGGAC	0.532000														52			40		0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41101626	41101626	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:41101626G>A	uc001cfu.1	-	3	786	c.321C>T	c.(319-321)tcC>tcT	p.S107S	RIMS3_uc001cfv.1_Silent_p.S107S	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	107					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TCCCATCGGTGGACTCCCGGC	0.687000														62			10		0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45782997	45782997	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:45782997G>A	uc001zvj.3	-	3	933	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	207					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGTTCATATGGATAGTTCTTT	0.343000														36			16		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926354	70926354	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:70926354C>T	uc021rvq.1	+	0	2138	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	ADAM21_uc001xmd.3_Missense_Mutation_p.P713L	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	713					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTCTGGTCCCAAAGAAACT	0.373000														51			13		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154143320	154143320	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:154143320C>T	uc003wlk.3	+	1	394	c.265C>T	c.(265-267)Ccg>Tcg	p.P89S	DPP6_uc003wli.3_Missense_Mutation_p.P25S|DPP6_uc003wlj.3_Missense_Mutation_p.P89S|DPP6_uc010lqh.1_Missense_Mutation_p.P27S|DPP6_uc003wlm.3_Missense_Mutation_p.P27S|DPP6_uc011kvq.2_Missense_Mutation_p.P27S	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	89					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			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)			GAGTAACCCTCCGCAGAGGAA	0.423000														40			24		0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22107920	22107920	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:22107920C>T	uc003xbl.3	+	8	1169	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	POLR3D_uc003xbm.3_Silent_p.S362S|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	362					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGCTGGTGTCCGTGGGCCTTG	0.532000														31			13		0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67522831	67522831	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:67522831G>C	uc002jij.3	+	9	1150	c.862G>C	c.(862-864)Gtt>Ctt	p.V288L		NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	288	Protein kinase.				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGCAGAGTTTGTTGACTTTAC	0.473000														38			6		0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473033	2473033	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:2473033C>T	uc003smc.3	+	1	922	c.759C>T	c.(757-759)tcC>tcT	p.S253S	CHST12_uc003smd.3_Silent_p.S253S|CHST12_uc021zyu.1_Silent_p.S253S|CHST12_uc021zyv.1_Silent_p.S253S	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	253					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCTGATCTCCGCCTTCCGCA	0.627000														110			18		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921754	24921754	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:24921754G>A	uc001ywo.3	+	0	1214	c.740G>A	c.(739-741)gGa>gAa	p.G247E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	247					cell differentiation|multicellular organismal development|spermatogenesis			p.A246A(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGCCAGGCCGGATGTGCCCGG	0.622000														42			23		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45169860	45169860	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:45169860G>C	uc010skz.1	-	8	1111	c.986C>G	c.(985-987)aCc>aGc	p.T329S	NELL2_uc001rof.3_Missense_Mutation_p.T278S|NELL2_uc001rog.2_Missense_Mutation_p.T279S|NELL2_uc001roh.2_Missense_Mutation_p.T279S|NELL2_uc009zkd.2_Missense_Mutation_p.T278S|NELL2_uc010sla.1_Missense_Mutation_p.T302S|NELL2_uc001roi.1_Missense_Mutation_p.T279S|NELL2_uc010slb.1_Missense_Mutation_p.T278S|NELL2_uc001roj.2_Missense_Mutation_p.T279S	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	279	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCGGTAGGTGGTTCCCTTCAT	0.468000														36			5		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287885	46287885	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:46287885A>T	uc001van.1	+	2	805	c.725A>T	c.(724-726)aAg>aTg	p.K242M	SPERT_uc001vao.2_Missense_Mutation_p.K206M	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	242						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCCGTGGCAAGGAGGACAGC	0.682000														14			7		0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190670413	190670413	+	Silent	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:190670413T>C	uc002urh.4	+	3	880	c.351T>C	c.(349-351)ttT>ttC	p.F117F	PMS1_uc010zga.1_Silent_p.F117F|PMS1_uc010zgb.1_Silent_p.F56F|PMS1_uc002urk.4_Silent_p.F117F|PMS1_uc002uri.4_Silent_p.F117F|PMS1_uc010zgc.2_Intron|PMS1_uc010zgd.2_Intron|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Silent_p.F117F|PMS1_uc010frz.3_Silent_p.F117F|PMS1_uc010zfz.1_Silent_p.F117F	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	117					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CTGATAATTTTAGCACCCAGT	0.353000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						58			4		0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52469189	52469189	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:52469189G>A	uc002pyd.3	-	4	745	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	BC014606_uc002pyc.3_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	Homo sapiens zinc finger protein 350 (ZNF350), mRNA.	173					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		ATTGCAGTATGAAGTCGTTCA	0.378000														59			51		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171501964	171501964	+	Silent	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:171501964A>G	uc010pmg.2	+	11	1997	c.1731A>G	c.(1729-1731)ctA>ctG	p.L577L	PRRC2C_uc001ghr.1_Silent_p.L579L	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	577	Glu-rich.						protein C-terminus binding										aaaaagaaCTACAAAAGATGA	0.373000														18			3		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405721	47405721	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:47405721C>T	uc003gxh.3	+	6	1202	c.828C>T	c.(826-828)gtC>gtT	p.V276V	GABRB1_uc011bze.2_Silent_p.V206V	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	276					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGCCAGAGTCGCACTAGGTA	0.398000														35			16		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3756225	3756225	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:3756225C>A	uc001aky.2	-	6	1041	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Nonsense_Mutation_p.E228*	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	228						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TCATAGCGTTCCTTTTGGACA	0.383000														129			14		4.93089e-13	5.11993e-13	1	1	0
SLAMF6	114836	broad.mit.edu	37	1	160492959	160492959	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:160492959G>A	uc001fwe.2	-	0	94	c.24C>T	c.(22-24)ctC>ctT	p.L8L	SLAMF6_uc010pji.2_Silent_p.L8L|SLAMF6_uc001fwd.2_Silent_p.L8L|SLAMF6_uc010pjh.2_Silent_p.L8L|SLAMF6_uc010pjj.2_Silent_p.L8L|SLAMF6_uc009wtm.2_Silent_p.L8L	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	8						integral to membrane|plasma membrane	receptor activity	p.S7L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGACAAACAGGAGCGATTGGA	0.473000														38			14		0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080161	194080161	+	Missense_Mutation	SNP	C	G	G	rs141299685		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:194080161C>G	uc003ftt.3	-	2	1755	c.1630G>C	c.(1630-1632)Ggg>Cgg	p.G544R	LRRC15_uc003ftu.3_Missense_Mutation_p.G538R|LRRC15_uc021xiy.1_Missense_Mutation_p.G538R	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	538						integral to membrane		p.G538W(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATGGCCAGCCCGCTCTGGGCC	0.592000														65			8		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70042896	70042896	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:70042896G>A	uc010kak.3	+	22	3460	c.3184G>A	c.(3184-3186)Gcc>Acc	p.A1062T	BAI3_uc003pev.4_Missense_Mutation_p.A1062T|BAI3_uc011dxx.2_Missense_Mutation_p.A268T	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1062					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAACACAGAGCCGGGTAAGC	0.393000														11			6		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808875	18808875	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:18808875G>A	uc001bax.3	+	0	1452	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	KLHDC7A_uc009vpg.3_Missense_Mutation_p.R249H	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	467						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTGCTGCGCAGCCCGGAC	0.642000														102			22		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606732	43606732	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:43606732C>T	uc001jal.3	+	6	1531	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	RET_uc001jak.1_Silent_p.A447A|RET_uc010qez.1_Silent_p.A193A	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	447					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCTCTGGTGCCAACTGCAGCA	0.597000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					110			26		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993824	72993824	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:72993824G>A	uc002fck.3	-	1	894	c.221C>T	c.(220-222)cCc>cTc	p.P74L	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	74					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGCTGGCGGGCTCGGAGGG	0.711000														20			10		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201195154	201195154	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:201195154C>T	uc001gwc.3	+	21	10819	c.10689C>T	c.(10687-10689)ccC>ccT	p.P3563P	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCATCCTCCCCGGCCACGAAT	0.667000														62			13		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53191433	53191433	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:53191433C>T	uc002ehb.3	+	0	1596	c.1432C>T	c.(1432-1434)Cac>Tac	p.H478Y	CHD9_uc002egy.3_Missense_Mutation_p.H478Y|CHD9_uc002egz.1_Missense_Mutation_p.H478Y|CHD9_uc002ehc.3_Missense_Mutation_p.H478Y	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	478					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGACAGAAATCACCTATGTTT	0.413000														35			10		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105152793	105152793	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:105152793G>A	uc004emd.3	+	12	1463	c.1160G>A	c.(1159-1161)gGg>gAg	p.G387E	NRK_uc010npc.1_Missense_Mutation_p.G55E	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	387							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTCCTGCATGGGGAACCCTCT	0.537000										HNSCC(51;0.14)				20			16		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123785786	123785786	+	Silent	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:123785786T>G	uc010nqy.3	-	7	1621	c.1557A>C	c.(1555-1557)gtA>gtC	p.V519V	ODZ1_uc011muj.2_Silent_p.V518V|ODZ1_uc004euj.3_Silent_p.V519V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	519					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTAACACGAATACTTGCTCCA	0.408000														40			36		0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78184297	78184297	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:78184297A>C	uc001dht.3	-	16	2161	c.1814T>G	c.(1813-1815)gTa>gGa	p.V605G	USP33_uc001dhs.3_Missense_Mutation_p.V326G|USP33_uc001dhu.3_Missense_Mutation_p.V574G|USP33_uc001dhv.3_Missense_Mutation_p.V410G|USP33_uc001dhw.3_Missense_Mutation_p.V597G	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	605					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AAAGTTTTGTACTTTACAAAA	0.274000														49			3		0	0	1	0	0
GPR137C	283554	broad.mit.edu	37	14	53100254	53100254	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:53100254G>A	uc001wzt.4	+	5	922	c.922G>A	c.(922-924)Gta>Ata	p.V308I	GPR137C_uc001wzu.4_Missense_Mutation_p.V292I	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	Homo sapiens G protein-coupled receptor 137C (GPR137C), mRNA.	292						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ACAGGCTCATGTAGAAGACAT	0.398000														28			19		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157370803	157370803	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:157370803G>A	uc003wno.3	-	17	2647	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	PTPRN2_uc003wnp.3_Silent_p.I825I|PTPRN2_uc003wnq.3_Silent_p.I813I|PTPRN2_uc003wnr.3_Silent_p.I804I|PTPRN2_uc011kwa.2_Silent_p.I865I	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	842	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGCATGACGATCACCACGC	0.592000														33			33		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532893	31532893	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:31532893C>T	uc003aka.3	-	5	1328	c.1199_splice	c.e5+1	p.R400_splice		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	400					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						AGGGGCCTCACCGGCGCGTGC	0.682000														28			8		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795921	15795921	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:15795921C>T	uc002nbl.3	+	8	1148	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TCCTGTACAACCTTGCGAGGC	0.592000														41			18		0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212039	8212039	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:8212039C>T	uc001qtv.1	-	1	835	c.743G>A	c.(742-744)aGg>aAg	p.R248K	C3AR1_uc021quj.1_Missense_Mutation_p.R248K	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	248					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ACTTGTTAACCTAGCAGAACC	0.423000														86			4		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186925441	186925441	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:186925441C>T	uc001gsc.3	+	13	1749	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	PLA2G4A_uc010pos.2_Missense_Mutation_p.S455F	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	515	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ACACAGGACTCCTTTGATGAT	0.438000														142			61		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202777350	202777351	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:202777350_202777351AG>CA	uc009xag.3	-	0	199_200	c.83_84CT>TG	c.(82-84)cct>cTG	p.P28L	KDM5B_uc001gyf.3_Missense_Mutation_p.P28L|KDM5B_uc001gyg.1_5'Flank	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	28					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACTCGGGTGGAGGCAGGAACTC	0.703000														54			20		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18143519	18143519	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:18143519C>T	uc021wbb.1	+	5	2038	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	CSRP2BP_uc002wqk.3_Missense_Mutation_p.S406F|CSRP2BP_uc010zru.2_Missense_Mutation_p.S405F	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	534					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGAGGAATTTCCAGACTTCCA	0.453000														56			22		0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5653155	5653155	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:5653155C>T	uc002mcg.3	+	9	1494	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	SAFB_uc002mcf.3_Silent_p.A441A|SAFB_uc002mce.4_Silent_p.A441A|SAFB_uc010xis.2_Silent_p.A372A|SAFB_uc010xit.2_Silent_p.A284A|SAFB_uc010xir.2_Silent_p.A441A|SAFB_uc010xiu.2_Silent_p.A240A	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	441	RRM.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGACAAATGCCCGGAGTCCTG	0.542000														43			6		0	0	1	0	0
DEFB124	245937	broad.mit.edu	37	20	30060796	30060796	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:30060796G>A	uc002wvz.1	-	0	21	c.21C>T	c.(19-21)ttC>ttT	p.F7F	BC016143_uc021wbr.1_5'Flank|REM1_uc002wwa.3_5'Flank	NM_001037500	NP_001032589	Q8NES8	DB124_HUMAN	Homo sapiens defensin, beta 124 (DEFB124), mRNA.	7					defense response to bacterium	extracellular region						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GAGCCACAAGGAACAGAAGCA	0.562000														72			9		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175121	125175121	+	Silent	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:125175121C>A	uc010flu.3	+	3	847	c.483C>A	c.(481-483)ccC>ccA	p.P161P	CNTNAP5_uc002tno.3_Silent_p.P161P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	161	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATGGAATCCCAGTGGGAAGA	0.507000														19			4		5.9392e-07	6.06994e-07	1	1	0
KIAA0513	9764	broad.mit.edu	37	16	85112545	85112545	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:85112545C>A	uc002fiu.3	+	7	1058	c.838C>A	c.(838-840)Ccc>Acc	p.P280T	KIAA0513_uc010voj.2_Missense_Mutation_p.P280T|KIAA0513_uc002fit.3_Missense_Mutation_p.P280T	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	280						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CGCGTACAGCCCCGAGGACGA	0.607000														77			6		0.0293803	0.029471	1	1	0
SGK223	157285	broad.mit.edu	37	8	8235435	8235435	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:8235435C>T	uc003wsh.4	-	1	484	c.484G>A	c.(484-486)Gtc>Atc	p.V162I		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	162							ATP binding|non-membrane spanning protein tyrosine kinase activity										TGCAGGCCGACCATGGTGTAA	0.602000														69			23		0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42209358	42209358	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:42209358C>T	uc003bbh.1	+	4	510	c.401C>T	c.(400-402)tCc>tTc	p.S134F	bK250D10.C22.8_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	Homo sapiens coiled-coil domain containing 134 (CCDC134), mRNA.	134						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GACCACAACTCCAACTGGAAC	0.577000														95			30		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19502376	19502376	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:19502376C>T	uc011aha.2	+	14	1496	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	CDC45_uc011agz.1_Missense_Mutation_p.S436F|CDC45_uc002zpr.3_Missense_Mutation_p.S441F|CDC45_uc002zpt.3_Missense_Mutation_p.S395F	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	441					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	p.L473L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CTCGTCATCTCCCAGGGGCCT	0.592000														90			68		0	0	1	0	0
PRPF38A	84950	broad.mit.edu	37	1	52879611	52879611	+	Missense_Mutation	SNP	C	T	T	rs142879021		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:52879611C>T	uc001ctv.4	+	5	873	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	PRPF38A_uc001ctw.4_Silent_p.P34P	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing A (PRPF38A), mRNA.	224	Arg-rich.				RNA splicing|mRNA processing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GGACAAGCCCCGTCGCTCTCC	0.532000														39			7		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628027	46628027	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:46628027G>T	uc002inn.3	-	1	1365	c.965C>A	c.(964-966)cCt>cAt	p.P322H	HOXB3_uc010wlm.2_Missense_Mutation_p.P249H|HOXB3_uc010dbf.3_Missense_Mutation_p.P322H|HOXB3_uc010dbg.3_Missense_Mutation_p.P322H|HOXB3_uc002ino.3_Missense_Mutation_p.P322H|HOXB3_uc010wlk.2_Missense_Mutation_p.P190H|HOXB3_uc010wll.2_Missense_Mutation_p.P249H	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	322					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CGGGGTCGGAGGGTACTTCTG	0.701000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		127			20		1.85244e-09	1.90822e-09	1	1	0
NOS1	4842	broad.mit.edu	37	12	117691498	117691498	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:117691498C>T	uc001twn.2	-	17	3406	c.2695G>A	c.(2695-2697)Gat>Aat	p.D899N	NOS1_uc021ren.1_Missense_Mutation_p.D529N|NOS1_uc021reo.1_Missense_Mutation_p.D529N|NOS1_uc001twm.2_Missense_Mutation_p.D865N	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	865	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCGGGCCCATCGCCTGATGAT	0.562000														76			34		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726437	12726437	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:12726437C>T	uc001auf.3	+	3	915	c.915C>T	c.(913-915)ggC>ggT	p.G305G		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	305						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTCTCCCGGCCCTTTTAATG	0.502000														103			81		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586400	143586400	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:143586400C>T	uc003lnm.1	+	2	752	c.123C>T	c.(121-123)tcC>tcT	p.S41S	KCTD16_uc003lnn.1_Silent_p.S41S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	41	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTCGCCATTCCACATTGATAA	0.478000														42			11		0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142399728	142399729	+	Missense_Mutation	DNP	AT	GA	GA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:142399728_142399729AT>GA	uc003qiu.3	-	1	875_876	c.734_735AT>TC	c.(733-735)aat>aTC	p.N245I		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	245					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CTCCAGGAAGATTGTGTGCGCT	0.356000														26			9		0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22073613	22073613	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:22073613G>A	uc010odq.2	-	7	1176	c.938C>T	c.(937-939)aCc>aTc	p.T313I	USP48_uc001bfb.3_Missense_Mutation_p.T313I|USP48_uc009vqc.3_Missense_Mutation_p.T313I|USP48_uc001bfc.3_Missense_Mutation_p.T313I|USP48_uc001bfe.1_Missense_Mutation_p.T313I|USP48_uc001bff.3_Missense_Mutation_p.T313I	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	313					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GCCAATGTAGGTATTCAGCTT	0.313000														26			4		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198407	15198407	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:15198407C>T	uc010xoe.2	+	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TCTCCCACTTCTTCTGTGACC	0.557000														69			10		0	0	1	0	0
DKKL1	27120	broad.mit.edu	37	19	49867985	49867985	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:49867985C>T	uc002pnk.3	+	1	371	c.157C>T	c.(157-159)Caa>Taa	p.Q53*	TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Nonsense_Mutation_p.Q53*	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	53					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GAGCCTACTCCAAGGCTTCAG	0.577000														98			12		0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159995214	159995214	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:159995214G>A	uc021xgr.1	-	16	2025	c.1979C>T	c.(1978-1980)tCa>tTa	p.S660L	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.S523L|IFT80_uc021xgq.1_Missense_Mutation_p.S658L|IFT80_uc003fde.2_Missense_Mutation_p.S523L|IFT80_uc003fdd.2_Missense_Mutation_p.S343L	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	660						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCCATTTTTGATTCTTTAGA	0.313000														43			10		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419476	46419476	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:46419476C>A	uc001ncv.2	-	19	3744	c.3430G>T	c.(3430-3432)Ggt>Tgt	p.G1144C	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.G1112C|AMBRA1_uc001ncu.1_Missense_Mutation_p.G1051C|AMBRA1_uc010rgu.1_Missense_Mutation_p.G1141C|AMBRA1_uc001ncw.2_Missense_Mutation_p.G1022C|AMBRA1_uc001ncx.2_Missense_Mutation_p.G1081C	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1141					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.W1143C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCACTGGCACCATACTCTGAA	0.627000														41			3		1	1	1	1	0
SAFB2	9667	broad.mit.edu	37	19	5587889	5587889	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:5587889G>A	uc002mcd.3	-	18	2840	c.2628C>T	c.(2626-2628)gcC>gcT	p.A876A		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	876	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTTGCCACCTGGCGTGCTCCC	0.687000														25			5		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31311980	31311980	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:31311980G>A	uc010dmg.1	+	8	983	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	ASXL3_uc002kxq.2_Missense_Mutation_p.E17K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTAAATAATGAATTCTTTGC	0.378000														68			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179552841	179552841	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179552841C>T	uc021vsy.1	-	123	28801	c.28576G>A	c.(28576-28578)Gaa>Aaa	p.E9526K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6187K|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10453							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTACCTTCATATTCTGTA	0.393000														70			13		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45292715	45292715	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:45292715G>A	uc010olf.2	-	16	2566	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S	PTCH2_uc021omv.1_Missense_Mutation_p.P852S|PTCH2_uc010olg.2_Missense_Mutation_p.P550S	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	852					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCTCGGGTGGAATCAGTCCC	0.627000									Basal Cell Nevus syndrome					153			60		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030861	10030861	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:10030861G>A	uc002wno.3	+	7	2036	c.1643_splice	c.e7+1	p.G548_splice	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Splice_Site_p.G548_splice|ANKRD5_uc010gbz.3_Splice_Site_p.G359_splice	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	548							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TTGAAAAAGGGTACGCGTCTC	0.398000														32			10		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45633718	45633718	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:45633718C>T	uc002xsm.3	+	3	667	c.293C>T	c.(292-294)tCc>tTc	p.S98F	EYA2_uc010ghp.3_Missense_Mutation_p.S98F|EYA2_uc002xsq.3_Missense_Mutation_p.S98F	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	98					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGAATCCCTTCCTACAGTGAG	0.512000														55			9		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74414498	74414498	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:74414498G>A	uc001ovh.3	-	7	1051	c.798C>T	c.(796-798)caC>caT	p.H266H	CHRDL2_uc001ovg.3_Silent_p.H150H|CHRDL2_uc001ovi.3_Silent_p.H266H|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Intron	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	266	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GGAAGGCCGGGTGCCACACCT	0.647000														12			12		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7224553	7224553	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:7224553C>T	uc002gga.1	-	19	3245	c.3238G>A	c.(3238-3240)Ggt>Agt	p.G1080S	GPS2_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|GPS2_uc002ggb.1_Missense_Mutation_p.G1078S	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				ATTGACACACCGCGGACTGGC	0.577000														26			17		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99454465	99454465	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:99454465G>T	uc003ury.1	+	8	911	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	CYP3A43_uc003urx.1_Missense_Mutation_p.D270Y|CYP3A43_uc003urz.1_Missense_Mutation_p.D270Y|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.D160Y|CYP3A43_uc003usb.1_Missense_Mutation_p.D130Y	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	270			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GCATCGAGTAGATTTCTTTCA	0.438000														70			30		1.62565e-12	1.68528e-12	1	1	0
KCNA5	3741	broad.mit.edu	37	12	5155058	5155058	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:5155058C>T	uc001qni.3	+	0	1974	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	582						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GGCAGCTGCCCCCTAGAGAAG	0.602000														44			5		0	0	1	0	0
GSTO2	119391	broad.mit.edu	37	10	106037800	106037800	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:106037800C>T	uc001kyb.3	+	3	920	c.292C>T	c.(292-294)Cca>Tca	p.P98S	GSTO2_uc010qqx.2_Missense_Mutation_p.P98S|GSTO2_uc010qqw.1_Missense_Mutation_p.P98S|GSTO2_uc001kyc.3_Missense_Mutation_p.P70S|GSTO2_uc021pxu.1_Missense_Mutation_p.P70S|GSTO2_uc010qqy.2_Missense_Mutation_p.P70S	NM_183239	NP_001177943	Q9H4Y5	GSTO2_HUMAN	Homo sapiens glutathione S-transferase omega 2 (GSTO2), transcript variant 1, mRNA.	98	GST N-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGATGCTTATCCAGGAAGGAA	0.408000														19			17		0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34021881	34021881	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:34021881C>T	uc002xcj.3	+	1	367	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	GDF5_uc010gfc.1_Silent_p.T444T|GDF5_uc002xck.1_Silent_p.T444T					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						CTGCATGATTCGTGGGCTCCA	0.612000														36			24		0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075656	83075657	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:83075656_83075657GG>AA	uc003pjn.4	+	2	1914_1915	c.978_979GG>AA	c.(976-981)ccggaa>ccAAaa	p.E327K	TPBG_uc003pjo.3_Missense_Mutation_p.E327K|TPBG_uc021zcc.1_Missense_Mutation_p.E327K	NM_006670	NP_006661	Q13641	TPBG_HUMAN	Homo sapiens trophoblast glycoprotein (TPBG), transcript variant 1, mRNA.	327	LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GTGCATATCCGGAAAAAATGAG	0.545000														54			23		0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420654	27420654	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:27420654C>T	uc003njj.3	-	4	1495	c.684G>A	c.(682-684)ggG>ggA	p.G228G	ZNF184_uc010jqv.3_Silent_p.G228G|ZNF184_uc003nji.3_Silent_p.G228G	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TAAAGGCTTTCCCACATTCAT	0.383000														150			7		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	56833374	56833374	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:56833374C>T	uc002iwx.3	+	0	143	c.16C>T	c.(16-18)Cct>Tct	p.P6S	PPM1E_uc010ddd.3_5'UTR	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	6					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CGGCTGCATCCCTGAGGAGAA	0.667000														35			45		0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76463419	76463419	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:76463419C>T	uc002bbq.3	+	6	754	c.599C>T	c.(598-600)gCc>gTc	p.A200V	C15orf27_uc010bkp.3_Missense_Mutation_p.A16V|C15orf27_uc002bbr.3_Missense_Mutation_p.A16V	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	200						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCTGGGACGCCATCAGCCTC	0.602000														12			5		0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														29			5		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084615	53084616	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:53084615_53084616CC>TT	uc003xqz.2	-	4	961_962	c.805_806GG>AA	c.(805-807)ggc>AAc	p.G269N	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.G234N|ST18_uc011lds.1_Missense_Mutation_p.G174N|ST18_uc003xra.2_Missense_Mutation_p.G269N|ST18_uc003xrb.2_Missense_Mutation_p.G269N	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGGGCATTGCCATCCAGGGGT	0.495000														71			19		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142691	35142691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:35142691G>A	uc003teq.1	-	18	1972	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	DPY19L2P1_uc003tep.1_Intron|DPY19L2P1_uc010kwz.1_Intron					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		CTGCGAAAAAGCCAGCCAAAG	0.358000														29			7		0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68326071	68326071	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:68326071C>T	uc001onv.3	+	7	1036	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	PPP6R3_uc001onw.3_Missense_Mutation_p.H257Y|PPP6R3_uc001ony.4_Missense_Mutation_p.H257Y|PPP6R3_uc001onx.3_Missense_Mutation_p.H257Y|PPP6R3_uc009ysh.3_Missense_Mutation_p.H257Y|PPP6R3_uc001onu.3_Missense_Mutation_p.H257Y|PPP6R3_uc010rqc.2_Intron|PPP6R3_uc010rqd.2_5'UTR	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	257					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AAATATTTTCCACAAGGAGAA	0.363000														44			37		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656238	40656238	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:40656238C>T	uc002rrx.3	-	0	1207	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	SLC8A1_uc002rry.3_Missense_Mutation_p.E395K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E395K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E395K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E395K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E395K|SLC8A1_uc010fan.1_Missense_Mutation_p.E395K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E395K	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	395					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTGTTGACCTCGTGCATGCTG	0.468000														40			11		0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23897032	23897032	+	Splice_Site	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:23897032C>A	uc004dax.3	-	3	475	c.237_splice	c.e3+1	p.Q79_splice	APOO_uc004day.4_Splice_Site	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.	79					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						ACAGTTGTACCTGACACCAGG	0.458000														48			30		5.45727e-16	5.67556e-16	1	1	0
ENDOU	8909	broad.mit.edu	37	12	48110143	48110143	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:48110143G>A	uc001rpu.2	-	5	850	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	ENDOU_uc010sll.2_5'UTR|ENDOU_uc001rpt.2_Missense_Mutation_p.L190F|ENDOU_uc010slm.2_Missense_Mutation_p.L168F|AL831948_uc001rpv.3_5'Flank	NM_001172439	NP_001165910	P21128	ENDOU_HUMAN	Homo sapiens endonuclease, polyU-specific (ENDOU), transcript variant 1, mRNA.	231					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	RNA binding|endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						ATCTCTCTGAGGAAGGCGTCC	0.582000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			30		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55943354	55943354	+	Splice_Site	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:55943354C>A	uc010qhy.1	-	14	1851	c.1456_splice	c.e14-1	p.I486_splice	PCDH15_uc010qhq.2_Splice_Site_p.I486_splice|PCDH15_uc010qhr.2_Splice_Site_p.I481_splice|PCDH15_uc021pqv.1_Splice_Site_p.I481_splice|PCDH15_uc021pqw.1_Splice_Site_p.I493_splice|PCDH15_uc010qht.2_Splice_Site_p.I488_splice|PCDH15_uc021pqx.1_Splice_Site_p.I481_splice|PCDH15_uc001jjv.1_Splice_Site_p.I459_splice|PCDH15_uc021pqy.1_Splice_Site_p.I481_splice|PCDH15_uc021pqz.1_Splice_Site_p.I459_splice|PCDH15_uc010qhv.1_Splice_Site_p.I481_splice|PCDH15_uc010qhw.1_Splice_Site_p.I444_splice|PCDH15_uc010qhx.1_Splice_Site_p.I481_splice|PCDH15_uc010qhz.1_Splice_Site_p.I481_splice|PCDH15_uc010qia.1_Splice_Site_p.I459_splice|PCDH15_uc001jju.1_Splice_Site_p.I481_splice|PCDH15_uc010qib.1_Splice_Site_p.I459_splice|PCDH15_uc001jjw.3_Splice_Site_p.I481_splice	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	481	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGCTGTTATCTTTGGGAGGA	0.368000										HNSCC(58;0.16)				62			14		3.41278e-10	3.52672e-10	1	1	0
CASC3	22794	broad.mit.edu	37	17	38320146	38320146	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:38320146G>C	uc010cwt.1	+	6	1493	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	CASC3_uc010cws.1_Missense_Mutation_p.E400Q|CASC3_uc002hue.3_Missense_Mutation_p.E400Q	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	400	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TAGGCCCATTGAGAAGAAATC	0.562000														180			4		0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113187000	113187000	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:113187000G>A	uc003eag.4	-	9	1432	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.R277W	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	381					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTAAGGTACCGAACCAGGCGA	0.473000														114			4		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41043842	41043842	+	Silent	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:41043842T>C	uc004dfb.3	+	22	4105	c.3472T>C	c.(3472-3474)Ttg>Ctg	p.L1158L	USP9X_uc004dfc.3_Silent_p.L1158L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1158					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			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						AGCCAAGCTTTTGCTAACTGC	0.453000														5			18		0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106142360	106142360	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:106142360C>T	uc001vqb.3	+	3	666	c.392C>T	c.(391-393)aCc>aTc	p.T131I	DAOA-AS1_uc021rmh.1_Non-coding_Transcript|DAOA_uc010tjf.2_Missense_Mutation_p.T60I|DAOA_uc001vpz.3_Non-coding_Transcript|DAOA_uc010agd.3_Non-coding_Transcript|DAOA_uc010tjg.2_Missense_Mutation_p.T103I|DAOA_uc001vqc.3_Non-coding_Transcript|DAOA_uc001vqe.3_Non-coding_Transcript	NM_172370	NP_001155286	P59103	DAOA_HUMAN	Homo sapiens D-amino acid oxidase activator (DAOA), transcript variant 1, mRNA.	131						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					cgaatgtggacctgcaactac	0.468000														19			6		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57868244	57868244	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:57868244G>A	uc001sod.3	-	17	2208	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F	ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.S398F|ARHGAP9_uc001soa.3_Missense_Mutation_p.S271F|ARHGAP9_uc001sob.3_Missense_Mutation_p.S582F|ARHGAP9_uc001soc.3_Missense_Mutation_p.S582F|ARHGAP9_uc001soe.1_Missense_Mutation_p.S661F	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	601	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCTCCCATCGGAGGTGACCGC	0.507000														64			5		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718532	117718532	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:117718532C>T	uc001twn.2	-	7	2233	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	NOS1_uc021ren.1_Missense_Mutation_p.E172K|NOS1_uc021reo.1_Missense_Mutation_p.E172K|NOS1_uc001twm.2_Missense_Mutation_p.E508K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	508					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCTCGCACCTCTGTGAACTGC	0.592000														118			13		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804745	27804745	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:27804745C>T	uc002rkz.4	+	0	5357	c.5306C>T	c.(5305-5307)cCc>cTc	p.P1769L	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1769	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATTGCAGTCCCTCTGAGAGA	0.527000														190			49		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120474738	120474738	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:120474738G>C	uc004bjz.3	+	2	623	c.332G>C	c.(331-333)gGa>gCa	p.G111A	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_Missense_Mutation_p.G71A	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	111					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.G111*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATATTGACAGGAAACCCCATC	0.433000														35			8		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401063	11401063	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:11401063C>A	uc003gmq.3	-	1	890	c.567G>T	c.(565-567)aaG>aaT	p.K189N	HS3ST1_uc021xmg.1_Missense_Mutation_p.K189N	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	189						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGTTGAGGGCCTTGTAGTCCA	0.587000														43			12		9.31168e-06	9.50171e-06	1	1	0
GPRIN2	9721	broad.mit.edu	37	10	46999656	46999656	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:46999656C>T	uc001jec.3	+	2	911	c.776C>T	c.(775-777)cCc>cTc	p.P259L	GPRIN2_uc021ppt.1_Missense_Mutation_p.P259L	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	259										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGGCCTTTCCCAAACTAGTG	0.622000														140			15		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043064	20043064	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:20043064G>A	uc002dgu.1	-	1	1217	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	GPR139_uc010vaw.1_Missense_Mutation_p.S259F	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	352						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GAATCACGGGGATACTTTTAT	0.473000														78			20		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357561	149357561	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:149357561G>A	uc003ilj.4	-	1	815	c.452C>T	c.(451-453)cCt>cTt	p.P151L	NR3C2_uc003ilk.4_Missense_Mutation_p.P151L|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	151	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TAGAGTGGAAGGACGATGGCC	0.468000														103			8		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242758178	242758178	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:242758178C>G	uc002wcp.2	+	3	1792	c.1298C>G	c.(1297-1299)tCc>tGc	p.S433C	NEU4_uc010fzr.3_Missense_Mutation_p.S420C|NEU4_uc002wcm.3_Missense_Mutation_p.S420C|NEU4_uc002wco.2_Missense_Mutation_p.S420C|NEU4_uc002wcn.2_Missense_Mutation_p.S432C	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	420						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGCGGCTACTCCGACCTGGCG	0.652000														26			8		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78919516	78919517	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:78919516_78919517CC>TT	uc002jyt.1	+	25	3880_3881	c.3075_3076CC>TT	c.(3073-3078)gtcccc>gtTTcc	p.P1026S	RPTOR_uc010wug.1_Missense_Mutation_p.P868S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1026					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACCCCGGCGTCCCCTCTGTGGT	0.564000														46			32		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19058518	19058518	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:19058518C>T	uc002dfp.2	+	11	1817	c.1687C>T	c.(1687-1689)Ctt>Ttt	p.L563F	TMC7_uc002dfq.3_Missense_Mutation_p.L563F|TMC7_uc010vap.2_Missense_Mutation_p.L453F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	563						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTTCTCACCCCTTCTCCCTGC	0.502000														321			80		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169955	57169955	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:57169955C>T	uc001cyk.4	+	6	1171	c.1100C>T	c.(1099-1101)cCa>cTa	p.P367L		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	367					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AAACCTCATCCAGAAAGGATG	0.473000														76			29		0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190742075	190742075	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:190742075G>A	uc002urh.4	+	12	3241	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	PMS1_uc002urk.4_Missense_Mutation_p.M865I|PMS1_uc002uri.4_Missense_Mutation_p.M742I|PMS1_uc010zgc.2_Missense_Mutation_p.M728I|PMS1_uc010zgd.2_Missense_Mutation_p.M728I|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010frz.3_Missense_Mutation_p.M220I|PMS1_uc002url.3_Missense_Mutation_p.M527I|PMS1_uc002urm.3_Non-coding_Transcript	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	904					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCTACAGAATGAAGCACCAGT	0.373000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						61			7		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103092762	103092762	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:103092762C>T	uc001phn.1	+	57	9255	c.9111C>T	c.(9109-9111)ttC>ttT	p.F3037F	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.F3037F	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3037	Stalk (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATTTTAGTTTCCTTGCAAAAA	0.284000														14			7		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46920197	46920197	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:46920197G>A	uc001ndn.4	-	6	951	c.708C>T	c.(706-708)ttC>ttT	p.F236F	LRP4_uc009ylh.2_Silent_p.F187F	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	236	LDL-receptor class A 6.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGTCACACATGAACTCCCCAG	0.582000														145			41		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25478124	25478124	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:25478124G>C	uc001upt.4	-	7	3018	c.2765C>G	c.(2764-2766)gCt>gGt	p.A922G	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'UTR	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	922					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TGCGTTCTCAGCTTTAAACTT	0.373000														62			68		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323087	61323087	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:61323087G>A	uc002lji.3	-	7	1121	c.977C>T	c.(976-978)tCt>tTt	p.S326F	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.S274F	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	326					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TAGGACTCCAGATAGCACGAG	0.537000														104			30		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468480	74468480	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:74468480C>T	uc002axg.1	+	1	1563	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	ISLR_uc002axh.1_Silent_p.S427S|ISLR_uc021sqf.1_Silent_p.S427S	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	427					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCCTCACCTCCTTCTAGCCCC	0.642000														44			11		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198809	15198809	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:15198809C>T	uc010xoe.2	+	0	933	c.933C>T	c.(931-933)ccC>ccT	p.P311P		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TGGCCGTCCCCTGTCCTAGGC	0.537000														34			11		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8203090	8203090	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:8203090C>T	uc002mjf.3	-	8	1153	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	379						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGTTGAGTCGCGCTGGCCC	0.662000														33			4		0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23052681	23052681	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:23052681G>A	uc001yvc.3	-	3	417	c.392C>T	c.(391-393)gCa>gTa	p.A131V	NIPA1_uc001yvd.3_5'UTR|NIPA1_uc001yve.3_Missense_Mutation_p.A56V	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	131					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GACGGAGCCTGCACAGCTTAG	0.458000														128			11		0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11870214	11870214	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:11870214G>A	uc002dbk.3	-	6	745	c.547_splice	c.e6-1	p.L183_splice	ZC3H7A_uc002dbl.3_Splice_Site_p.L183_splice|ZC3H7A_uc002dbm.2_Splice_Site_p.L183_splice	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	183						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TTTAATGAGAGCTGAAATAAA	0.338000														90			17		0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34021681	34021681	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:34021681C>T	uc002xcj.3	+	1	167	c.92C>T	c.(91-93)aCc>aTc	p.T31I	GDF5_uc010gfc.1_Intron|GDF5_uc002xck.1_3'UTR					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						GGATGTGCCACCCAGGAAGAC	0.557000														67			15		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200072	155200072	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:155200072G>A	uc021xge.1	-	22	4044	c.3767C>T	c.(3766-3768)cCg>cTg	p.P1256L	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.P1218L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1256					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P1218L(1)|p.P1256L(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TATCAGCTCCGGAGATGAGCA	0.473000														84			21		0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118245671	118245671	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:118245671C>T	uc001psw.3	+	8	1312	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	UBE4A_uc001psv.3_Missense_Mutation_p.P400S	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	393					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCAGCTCTCTCCAGAAACCAA	0.443000														50			13		0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27216397	27216397	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:27216397G>A	uc001uqv.3	+	3	216	c.-9_splice	c.e3-1		WASF3_uc001uqw.3_Splice_Site	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.						actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TCAATTTTCAGATTGTGAACC	0.388000														53			32		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523192	43523192	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:43523192G>A	uc002ovm.1	-	2	546	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.P25S|PSG11_uc002ovo.1_Missense_Mutation_p.P25S	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	147	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GAGGGCTTGGGAGTCTCCACT	0.507000														85			87		0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	855687	855687	+	Missense_Mutation	SNP	G	A	A	rs112990855		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:855687G>A	uc002lqb.3	+	3	528	c.490G>A	c.(490-492)Ggg>Agg	p.G164R		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	164	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	p.G164G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGGAACCGTGGGATCGCCAG	0.711000														104			42		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61823256	61823256	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:61823256C>T	uc002eog.2	-	7	2363	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	CDH8_uc002eoh.3_Missense_Mutation_p.E239K	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	470	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTACTAATTTCAGTAGCAATG	0.393000														42			25		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45454089	45454090	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:45454089_45454090GG>AA	uc001zus.1	+	30	4356_4357	c.4010_4011GG>AA	c.(4009-4011)cgg>cAA	p.R1337Q	DUOX1_uc001zut.1_Missense_Mutation_p.R1337Q|DUOX1_uc010bee.1_Missense_Mutation_p.R717Q	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1337	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGCACATCCGGGCAGCAGGGC	0.634000														42			6		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807376	20807376	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:20807376T>C	uc002npb.1	-	3	1457	c.1307A>G	c.(1306-1308)cAg>cGg	p.Q436R	ZNF626_uc002npc.1_Missense_Mutation_p.Q360R	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GATTGAGGACTGGTTGAAGGC	0.388000														38			8		0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220955194	220955194	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:220955194A>G	uc001hmq.3	+	6	1157	c.959A>G	c.(958-960)gAa>gGa	p.E320G	MARC2_uc001hmr.3_Missense_Mutation_p.E320G|MARC2_uc009xdx.3_Intron	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA.	320	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TATTCAGTGGAAAAAATTGGA	0.433000														171			4		0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124646490	124646490	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:124646490G>A	uc003ehq.2	-	1	439	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	134	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTTTCAGAAGGAACCATTGTG	0.443000														251			18		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20651276	20651277	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:20651276_20651277CC>TT	uc001ytg.3	-	16	2380_2381	c.1671_1672GG>AA	c.(1669-1674)gaggaa>gaAAaa	p.E558K	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.E558K|HERC2P3_uc010tyy.2_Missense_Mutation_p.E558K					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCATATCTTCCTCAACGCTGT	0.475000														139			4		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375496	42375496	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:42375496C>T	uc001zox.3	-	7	667	c.572G>A	c.(571-573)gGg>gAg	p.G191E		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	191					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCATAGGACCCCTTCAGCAC	0.607000														37			12		0	0	1	0	0
TSPO2	222642	broad.mit.edu	37	6	41011331	41011331	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:41011331G>A	uc003opj.3	+	2	510	c.209G>A	c.(208-210)gGg>gAg	p.G70E	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.3_Intron|TSPO2_uc011dub.2_Missense_Mutation_p.G70E	NM_001010873	NP_001153198	Q5TGU0	TSPO2_HUMAN	Homo sapiens translocator protein 2 (TSPO2), transcript variant 1, mRNA.	70					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GACCTGGGAGGGGGCTTGGGG	0.577000														104			19		0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63987250	63987250	+	Silent	SNP	C	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:63987250C>G	uc001nyl.2	+	8	1217	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	FERMT3_uc001nym.2_Silent_p.L356L	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	356	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGGACCATCTCCGAATCTTTC	0.622000														76			48		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456371	230456371	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:230456371C>T	uc002vpv.3	-	1	657	c.510G>A	c.(508-510)caG>caA	p.Q170Q		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	170					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCACCGTTGCCTGAGAGCGAG	0.537000														34			27		0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887286	179887286	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:179887286A>T	uc001gnq.3	+	9	1882	c.1664A>T	c.(1663-1665)gAc>gTc	p.D555V		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	555						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ATGGACCCAGACAAACTGAAT	0.423000														93			13		0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43936803	43936803	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:43936803C>T	uc002xns.3	+	1	115	c.43C>T	c.(43-45)Cct>Tct	p.P15S	MATN4_uc002xnp.2_Intron|MATN4_uc002xnn.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_Intron|RBPJL_uc002xnt.3_Missense_Mutation_p.P15S	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	15					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCCTCCCAATCCTTTGACTCA	0.602000														82			28		0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94827549	94827549	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:94827549C>T	uc011lgk.2	+	26	2852	c.2781C>T	c.(2779-2781)ttC>ttT	p.F927F	TMEM67_uc003yga.4_Silent_p.F846F|TMEM67_uc011lgl.2_Silent_p.F326F	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	927					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GTTATTCTTTCAGCAGTGTCC	0.294000														3			3		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670822	134670822	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:134670822G>A	uc003eqt.3	+	2	1108	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	245	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CGGGGATGGGGAATGGATGGT	0.582000														189			39		0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25316963	25316963	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:25316963C>T	uc003grl.4	+	2	306	c.270C>T	c.(268-270)gcC>gcT	p.A90A		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	90							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GACTTGCTGCCCGAGAAGCTC	0.438000														88			43		0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077755	81077755	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:81077755A>G	uc002ffz.1	+	3	1670	c.1652A>G	c.(1651-1653)gAg>gGg	p.E551G	ATMIN_uc002fga.2_Missense_Mutation_p.E393G|ATMIN_uc010vnn.1_Missense_Mutation_p.E322G|ATMIN_uc002fgb.1_Missense_Mutation_p.E393G	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	551					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCTCAGAATGAGCCTAAGACT	0.338000														27			7		0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460494	1460494	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:1460494C>T	uc002wfg.2	-	1	530	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Intron	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	101	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCTGATGTCCGTTGGATCAT	0.448000														72			18		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:7635291G>A	uc001qsz.3	-	13	3323	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_uc001qta.3_Silent_p.F1065F|CD163_uc009zfw.2_Silent_p.F1098F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423000														84			44		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72030342	72030342	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:72030342G>A	uc002atb.1	+	9	1981	c.1902G>A	c.(1900-1902)ggG>ggA	p.G634G	THSD4_uc010ukg.1_Silent_p.G274G|THSD4_uc002ate.2_Silent_p.G274G	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	634						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGACCTGTGGGAAAGGTGAGC	0.627000														30			5		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215932006	215932006	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:215932006C>T	uc001hku.1	-	57	11707	c.11320G>A	c.(11320-11322)Gaa>Aaa	p.E3774K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3774	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATAGATTTCTTCTGGTGTT	0.343000										HNSCC(13;0.011)				77			8		0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44044749	44044749	+	Silent	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:44044749T>G	uc003tjf.3	+	3	691	c.555T>G	c.(553-555)ctT>ctG	p.L185L	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron|AX747182_uc003tjg.1_Non-coding_Transcript	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	185										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						AGTATCTCCTTGCTATGGTCA	0.537000														319			5		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117698398	117698398	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:117698398C>T	uc001twn.2	-	13	2950	c.2239G>A	c.(2239-2241)Gcc>Acc	p.A747T	NOS1_uc021ren.1_Missense_Mutation_p.A411T|NOS1_uc021reo.1_Missense_Mutation_p.A411T|NOS1_uc001twm.2_Missense_Mutation_p.A747T	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	747	Calmodulin-binding (Potential).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCAGCTTGGCCGAGAACTTG	0.517000														41			20		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18755128	18755128	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:18755128G>A	uc001mpd.3	-	9	1486	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	PTPN5_uc001mpb.3_Missense_Mutation_p.S320F|PTPN5_uc001mpc.3_Missense_Mutation_p.S352F|PTPN5_uc010rdj.2_Missense_Mutation_p.S296F|PTPN5_uc001mpf.3_Missense_Mutation_p.S328F|PTPN5_uc001mpe.3_Missense_Mutation_p.S320F|PTPN5_uc010rdk.2_Missense_Mutation_p.S297F	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	352	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ATTGATGTAGGAACTCAGAGG	0.582000														75			26		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25071647	25071647	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:25071647C>T	uc001mqs.3	+	9	1103	c.829C>T	c.(829-831)Cca>Tca	p.P277S	LUZP2_uc009yif.3_Missense_Mutation_p.P191S|LUZP2_uc009yig.3_Missense_Mutation_p.P235S	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	277						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGAAGGAAATCCAAGTACCAC	0.368000														25			11		0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135926235	135926235	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:135926235C>G	uc004ccj.4	+	3	975	c.638C>G	c.(637-639)cCc>cGc	p.P213R	GTF3C5_uc010mzz.2_Missense_Mutation_p.P88R|GTF3C5_uc004cci.4_Missense_Mutation_p.P213R	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	213						transcription factor TFIIIC complex	DNA binding|protein binding	p.R212H(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCCCGGCGCCCCCACAATGCC	0.592000														90			13		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56320340	56320340	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:56320340G>A	uc002ivt.3	+	2	315	c.-1_splice	c.e2-1		LPO_uc010dco.2_Splice_Site|LPO_uc010wnr.1_Splice_Site|LPO_uc010wns.2_Splice_Site|LPO_uc010dcp.3_Splice_Site	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.						hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCGTTTCAGTGATGAGGGTCC	0.532000														137			9		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47241454	47241455	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:47241454_47241455GG>AA	uc002pfm.3	-	2	459_460	c.426_427CC>TT	c.(424-429)aaccag>aaTTag	p.Q143*	STRN4_uc002pfl.3_Nonsense_Mutation_p.Q143*|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	143						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TTCTCCCCCTGGTTCAGGTCTG	0.490000														90			36		0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36207628	36207628	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:36207628T>G	uc002oay.3	+	5	1648	c.1438T>G	c.(1438-1440)Tgt>Ggt	p.C480G	ZBTB32_uc002oaz.3_Non-coding_Transcript|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	480					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCTCTCCCTGTTGTCCTTC	0.627000											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			28		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998544	72998544	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:72998544C>T	uc002lly.3	+	1	1610	c.1047C>T	c.(1045-1047)aaC>aaT	p.N349N	TSHZ1_uc021uln.1_Silent_p.N349N	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	394						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGCCCAATAACCGCTATGGCT	0.622000														39			21		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65495735	65495735	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:65495735C>T	uc002aon.2	-	6	1174	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	331	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCCTGTGGCCTTACAGCACA	0.507000														73			8		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073418	40073418	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:40073418A>C	uc003ayc.3	+	29	4927	c.4927A>C	c.(4927-4929)Aag>Cag	p.K1643Q	CACNA1I_uc003ayd.3_Missense_Mutation_p.K1608Q|CACNA1I_uc003aye.3_Missense_Mutation_p.K1558Q|CACNA1I_uc003ayf.3_Missense_Mutation_p.K1523Q	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1643					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTCTTTGGGAAGCTGGGTGA	0.672000														17			4		0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119318	133119318	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:133119318G>A	uc003epn.1	+	0	529	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	131	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGTCAGTCAGGAGCTGGAAAC	0.607000														81			6		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812956	156812956	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:156812956G>A	uc010pht.2	-	16	3265	c.2966C>T	c.(2965-2967)tCt>tTt	p.S989F	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	989	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATCCCAAAAGAGCCCTGGCC	0.602000														44			14		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777966	183777966	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:183777966G>A	uc003fmk.3	+	8	1204	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	390						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGTTAGCAGGGAAGAAGCTGG	0.607000														37			15		0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177851	91177851	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:91177851C>T	uc010qnh.2	+	1	1126	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	IFIT5_uc010qng.1_Nonsense_Mutation_p.Q251*	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), mRNA.	299							binding			endometrium(1)|large_intestine(4)|lung(4)	9						ACAAATGATCCAAATCAAGAA	0.418000														79			50		0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40708539	40708539	+	Silent	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:40708539C>A	uc001zls.3	+	10	1459	c.1125C>A	c.(1123-1125)gcC>gcA	p.A375A	IVD_uc001zlq.2_Silent_p.A345A|IVD_uc001zlr.2_Silent_p.A78A	NM_002225	NP_002216	P26440	IVD_HUMAN	Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	372					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CACAGGTAGCCCTGGACGGCA	0.607000														56			5		1.6384e-10	1.6958e-10	1	1	0
ATP7B	540	broad.mit.edu	37	13	52542710	52542710	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:52542710C>T	uc001vfw.2	-	3	1734	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	ATP7B_uc001vfy.2_Missense_Mutation_p.G415E|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.G526E|ATP7B_uc010tgt.1_Missense_Mutation_p.G526E|ATP7B_uc010tgu.1_Missense_Mutation_p.G526E|ATP7B_uc010tgv.1_Missense_Mutation_p.G526E|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	526	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCTGCCTTTCCTGCCATCAA	0.537000									Wilson disease					30			21		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165173226	165173226	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:165173226T>A	uc001gcz.2	-	8	1234	c.1040A>T	c.(1039-1041)aAc>aTc	p.N347I	LMX1A_uc021pdz.1_Missense_Mutation_p.N347I|LMX1A_uc021pdy.1_Missense_Mutation_p.N98I|LMX1A_uc001gcw.2_Missense_Mutation_p.N65I	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	347						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ATCACCCAGGTTACTGAGGGA	0.512000														109			25		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558223	140558223	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140558223G>A	uc011dai.2	+	0	853	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D202Y(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)			GCGCTGGACCGAGAGGAAGAA	0.532000														75			4		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601665	41601665	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:41601665G>A	uc002opt.3	+	9	1313	c.1304_splice	c.e9-1	p.G435_splice		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	435					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCCTCCTCAGGAAAGCGGTAC	0.577000														93			12		0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109046152	109046152	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:109046152G>A	uc009zva.3	-	7	1105	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	CORO1C_uc001tnj.3_Silent_p.S299S|CORO1C_uc010sxf.2_Silent_p.S262S	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	299					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGACGTACGGGGATTCATCCG	0.458000														63			37		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999128	46999128	+	Missense_Mutation	SNP	G	A	A	rs149580948		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:46999128G>A	uc001jec.3	+	2	383	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GPRIN2_uc021ppt.1_Missense_Mutation_p.R83Q	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	83								p.R83P(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCAAGGCGCGACCCAGTGCT	0.697000														111			13		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524417	55524417	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:55524417A>T	uc010spe.2	+	0	865	c.865A>T	c.(865-867)Aga>Tga	p.R289*		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CACTCCTGACAGATTTCCTGA	0.453000														133			22		0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80088100	80088100	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:80088100C>T	uc011kgu.2	-	7	952	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	318					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GAATAAATTTCCTTATCTTCT	0.333000														15			3		0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117217066	117217066	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:117217066C>T	uc009zwn.3	+	6	1028	c.795C>T	c.(793-795)atC>atT	p.I265I	RNFT2_uc001twb.4_Silent_p.I265I|RNFT2_uc001twa.4_Silent_p.I175I|RNFT2_uc001twc.4_Silent_p.I13I	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	265						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TTGTGGGGATCGCAGACTTTG	0.542000														131			65		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880953	200880953	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:200880953C>T	uc001gvo.3	+	8	1629	c.1587C>T	c.(1585-1587)ccC>ccT	p.P529P	C1orf106_uc010ppm.2_Silent_p.P444P	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	529										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGAGAGCCCCCTGCCGCCTG	0.726000														32			4		0	0	1	0	0
APOL2	23780	broad.mit.edu	37	22	36623971	36623971	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:36623971T>C	uc011amm.2	-	5	872	c.829A>G	c.(829-831)Acc>Gcc	p.T277A	APOL2_uc003aoz.3_Missense_Mutation_p.T165A|APOL2_uc003apa.3_Missense_Mutation_p.T165A	NM_145637	NP_663612	Q9BQE5	APOL2_HUMAN	Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA.	165					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						ACACTGCAGGTAATCCCAGCC	0.552000														58			14		0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23546250	23546250	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:23546250G>A	uc002dlu.3	-	3	949	c.917C>T	c.(916-918)tCc>tTc	p.S306F	EARS2_uc002dlr.4_Non-coding_Transcript|EARS2_uc002dls.4_Non-coding_Transcript|EARS2_uc002dlt.4_Missense_Mutation_p.S306F	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	306					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|glutamate-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	GTCCAACAAGGAATCGGGCAG	0.577000														15			7		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53164932	53164932	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:53164932G>A	uc001sax.3	-	6	1389	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	445	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTGGAGCTTGGCATTGGCGT	0.552000														80			20		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54308062	54308062	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:54308062G>A	uc021smr.1	+	0	2962	c.2962G>A	c.(2962-2964)Gaa>Aaa	p.E988K	UNC13C_uc021sms.1_Missense_Mutation_p.E988K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	988					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCAGAGTTGGAAGAGAAGAT	0.408000														5			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209973	140209973	+	Missense_Mutation	SNP	A	G	G	rs138889909	byFrequency	TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140209973A>G	uc003lho.2	+	0	2324	c.2297A>G	c.(2296-2298)aAg>aGg	p.K766R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.K766R	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	751					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCACCCAAGATGGATCTC	0.572000														43			9		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76984935	76984935	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:76984935G>A	uc003ugf.3	-	14	1136	c.1057C>T	c.(1057-1059)Cat>Tat	p.H353Y	PION_uc003ugg.1_Missense_Mutation_p.H138Y	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	353					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGAAGAAATGACCAGGTAAG	0.403000														47			30		0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428793	56428794	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:56428793_56428794CC>TT	uc001sjb.1	+	8	1595_1596	c.1436_1437CC>TT	c.(1435-1437)ccc>cTT	p.P479L	IKZF4_uc010sqa.1_Missense_Mutation_p.P432L|IKZF4_uc001sjc.1_Missense_Mutation_p.P479L|IKZF4_uc001sjd.1_Missense_Mutation_p.P377L|IKZF4_uc009zoi.1_Missense_Mutation_p.P434L|IKZF4_uc001sje.1_Missense_Mutation_p.P438L	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	479					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGTCCCCCACCCCAGCCACCTC	0.658000														19			26		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114176709	114176709	+	Splice_Site	SNP	C	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:114176709C>G	uc004bfe.1	-	20	2521	c.2521_splice	c.e20+1	p.G841_splice	5S_rRNA_uc022blx.1_5'Flank|KIAA0368_uc010muc.1_Splice_Site_p.G663_splice	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATATTCCTACCTCCAACACCT	0.413000														45			12		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599955	29599955	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:29599955G>A	uc001usl.4	+	0	1208	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	374						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTTGGGGTGGGAAGAGGCAA	0.592000														21			15		0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139740806	139740806	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:139740806A>T	uc011meh.2	+	0	1940	c.1940A>T	c.(1939-1941)gAg>gTg	p.E647V	PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	647										endometrium(2)|large_intestine(1)|lung(6)	9						gccccgggAGAGGCGGCCGAC	0.791000														14			4		0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26756568	26756568	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:26756568G>A	uc003gsf.4	+	20	1850	c.1580G>A	c.(1579-1581)tGa>tAa	p.*527*	TBC1D19_uc011bxu.2_Silent_p.*462*	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	0						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				ACTGTCACCTGATCTTCTTCA	0.323000														53			8		0	0	1	0	0
ATP5C1	509	broad.mit.edu	37	10	7842043	7842043	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:7842043T>G	uc001iju.3	+	5	704	c.626T>G	c.(625-627)gTt>gGt	p.V209G	ATP5C1_uc009xiq.1_Missense_Mutation_p.V209G|ATP5C1_uc010qbc.1_Missense_Mutation_p.V160G|ATP5C1_uc001ijv.3_Missense_Mutation_p.V209G	NM_001001973	NP_001001973	P36542	ATPG_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 (ATP5C1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	209					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CTTAATACCGTTGCAAGTGCT	0.338000														89			18		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29781274	29781274	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:29781274G>A	uc003cel.3	+	4	833	c.463G>A	c.(463-465)Gag>Aag	p.E155K	RBMS3_uc010hfq.3_Missense_Mutation_p.E155K|RBMS3_uc003cek.3_Missense_Mutation_p.E155K|RBMS3_uc010hfr.3_Missense_Mutation_p.E155K|RBMS3_uc003cem.3_Missense_Mutation_p.E154K	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	155	RRM 2.					cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GGATGAGCAGGAGCTTGAGAA	0.418000														138			26		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25928525	25928525	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:25928525G>A	uc010ayu.3	-	16	3506	c.3400C>T	c.(3400-3402)Ccc>Tcc	p.P1134S		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1134					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACGAGCGGGGGAAGTGACGAG	0.522000														31			18		0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	557449	557449	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:557449G>A	uc001lpx.3	-	6	726	c.663C>T	c.(661-663)gcC>gcT	p.A221A	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	221										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATACCGGCGGGCAACGCTGT	0.617000														5			5		0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413568	68413568	+	RNA	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:68413568G>A	uc004aex.3	+	0		c.123G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TCCCCCAGTGGCGCCGGATCT	0.607000														1			2		0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5866709	5866709	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:5866709G>A	uc002mdo.4	-	1	1199	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	FUT5_uc010duo.3_Missense_Mutation_p.S343F|FUT5_uc021uno.1_Missense_Mutation_p.S343F	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	343					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CCAGCTGAAGGAGCGAGGCCG	0.632000														51			15		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886862	3886862	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:3886862G>A	uc003bpt.4	+	1	1298	c.537G>A	c.(535-537)ttG>ttA	p.L179L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.L179L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	179						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAACAAATTGAAAGTTATTG	0.383000														70			23		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423240	26423240	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:26423240G>A	uc003abz.1	+	42	7550	c.7300G>A	c.(7300-7302)Gaa>Aaa	p.E2434K	MYO18B_uc003aca.1_Missense_Mutation_p.E2315K|MYO18B_uc010guy.1_Missense_Mutation_p.E2316K|MYO18B_uc010guz.1_Missense_Mutation_p.E2314K|MYO18B_uc011aka.1_Missense_Mutation_p.E1588K|MYO18B_uc011akb.1_Missense_Mutation_p.E1947K|MYO18B_uc010gva.1_Missense_Mutation_p.E417K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2434						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.D2433N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCGACTACGAACGCAAGAC	0.562000														121			71		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21733377	21733377	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:21733377G>A	uc001rfb.3	-	1	457	c.202C>T	c.(202-204)Cca>Tca	p.P68S		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	68					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAATATGGACCTATCAGA	0.408000														95			13		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138958809	138958809	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:138958809G>A	uc011kqr.2	+	10	1962	c.1962G>A	c.(1960-1962)tgG>tgA	p.W654*	UBN2_uc003vuv.3_Nonsense_Mutation_p.W377*	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	654										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTAAGGGCTGGATGCAGGCAA	0.358000														31			25		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966806	39966806	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:39966806G>A	uc003ayc.3	+	0	49	c.49G>A	c.(49-51)Gct>Act	p.A17T	CACNA1I_uc003ayd.3_Missense_Mutation_p.A17T	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	17					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGCCCCAGCCGCTGAGCCAGG	0.692000														31			23		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716104	50716104	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:50716104G>A	uc003bkv.4	-	32	5205	c.5112C>T	c.(5110-5112)gtC>gtT	p.V1704V	PLXNB2_uc003bkt.1_Silent_p.V496V|PLXNB2_uc003bku.1_Silent_p.V689V	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1704					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTCGTGGACATGCACGT	0.622000														128			43		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62330003	62330003	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:62330003G>A	uc001dab.3	+	19	2647	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K	INADL_uc009waf.1_Missense_Mutation_p.E845K|INADL_uc001daa.2_Missense_Mutation_p.E845K|INADL_uc001dad.3_Missense_Mutation_p.E542K|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	845					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			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						AAAAGAGATAGAGCAAAGCAA	0.368000														50			20		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26510829	26510829	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:26510829C>T	uc003xfb.2	+	12	1974	c.1543C>T	c.(1543-1545)Cca>Tca	p.P515S	DPYSL2_uc003xfa.3_Missense_Mutation_p.P620S|DPYSL2_uc011lah.2_Missense_Mutation_p.P479S	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	515					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GACAGTCACTCCAGCCTCCTC	0.592000														218			45		0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54645014	54645014	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:54645014G>A	uc009vzo.3	-	6	872	c.552C>T	c.(550-552)ctC>ctT	p.L184L	CYB5RL_uc001cww.3_Silent_p.L74L|CYB5RL_uc001cwy.4_Silent_p.L36L|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	184							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CCAGCAAGAGGAGCTCACCAT	0.542000														18			11		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989977	47989977	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:47989977C>T	uc002xur.1	-	1	2286	c.2120G>A	c.(2119-2121)gGa>gAa	p.G707E	KCNB1_uc002xus.1_Missense_Mutation_p.G707E	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	707					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.A706S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACACTCCAGTCCAGCGACAGC	0.597000														59			13		0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72459431	72459431	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:72459431C>T	uc002atq.3	-	5	399	c.375G>A	c.(373-375)gtG>gtA	p.V125V	GRAMD2_uc010bis.2_Silent_p.V125V	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	125	GRAM.					integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CAGGAATGACCACCTGAGAGG	0.567000														38			12		0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948628	2948628	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:2948628G>A	uc003muk.3	-	5	3030	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	SERPINB6_uc003mui.3_Silent_p.F228F|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Silent_p.F345F|SERPINB6_uc003mum.3_Silent_p.F345F|SERPINB6_uc003mun.3_Silent_p.F345F|SERPINB6_uc003muo.3_Silent_p.F345F	NM_004568	NP_004559	P35237	SPB6_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA.	345					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGCGGGGGACGAATCTGGCAC	0.582000														35			15		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13221575	13221575	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:13221575C>T	uc001rbi.3	+	8	1321	c.1298C>T	c.(1297-1299)cCt>cTt	p.P433L	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	433						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CAGCCTACTCCTGGATATTTC	0.423000														97			25		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160283	51160283	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:51160283C>T	uc003bne.1	+	21	4070	c.4070C>T	c.(4069-4071)cCc>cTc	p.P1357L	SHANK3_uc003bnf.1_Missense_Mutation_p.P804L	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1357										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCAGGGAAGCCCAGCAGTGAG	0.711000														11			3		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75581618	75581618	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:75581618G>A	uc003kei.1	+	5	1194	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	354					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGAAAACATGATGAAGCTTG	0.473000														42			4		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17696911	17696911	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:17696911C>T	uc002grm.3	+	2	1118	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	RAI1_uc002grn.1_Missense_Mutation_p.P217S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	217	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAGTCCTTCCCCACCTCCTC	0.622000														46			14		0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46750213	46750213	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:46750213G>A	uc001ndf.4	+	11	1342	c.1299_splice	c.e11-1	p.R433_splice		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	433	Peptidase S1.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGTCTCTGCAGGTACGAGCGA	0.537000														59			14		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566574	136566574	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:136566574C>A	uc002tuu.1	-	7	3354	c.3343G>T	c.(3343-3345)Gag>Tag	p.E1115*		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1115	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCTTCTGCTCCTGCCTGTAT	0.582000														90			25		3.69857e-22	3.87753e-22	1	1	0
TIMP4	7079	broad.mit.edu	37	3	12200284	12200284	+	Silent	SNP	C	G	G	rs150776929		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:12200284C>G	uc003bwo.3	-	0	568	c.57G>C	c.(55-57)gcG>gcC	p.A19A	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	19							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCCGCAGCAACGCCAGCAGCC	0.706000														36			7		0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64571809	64571809	+	Silent	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:64571809G>T	uc001obj.3	-	9	1918	c.1845C>A	c.(1843-1845)ctC>ctA	p.L615L	MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Silent_p.L615L|MEN1_uc001obl.3_Silent_p.L575L|MEN1_uc001obm.3_Silent_p.L610L|MEN1_uc001obn.3_Silent_p.L615L|MEN1_uc001obo.3_Silent_p.L615L|MEN1_uc001obq.3_Silent_p.L615L|MEN1_uc001obr.3_Silent_p.L615L	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	615					DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CAGTAGTTCAGAGGCCTTTGC	0.592000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated					87			52		7.34454e-26	7.72484e-26	1	1	0
C9orf174	100499483	broad.mit.edu	37	9	100092778	100092778	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:100092778A>G	uc011lut.2	+	31	3558	c.2552A>G	c.(2551-2553)gAg>gGg	p.E851G	C9orf174_uc004axe.2_Missense_Mutation_p.E851G|C9orf174_uc011lus.2_Missense_Mutation_p.E669G|C9orf174_uc004axg.2_Missense_Mutation_p.E712G|C9orf174_uc004axh.2_Non-coding_Transcript|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.E712G|C9orf174_uc011luv.1_Missense_Mutation_p.E709G	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	851	Glu-rich.					integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						ATAACTGAAGAGGTGCTGGGG	0.453000														40			6		0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73274334	73274334	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:73274334G>T	uc002jns.4	-	3	1452	c.542C>A	c.(541-543)aCc>aAc	p.T181N	SLC25A19_uc010dge.3_Missense_Mutation_p.T124N|SLC25A19_uc002jnv.4_Missense_Mutation_p.T181N|SLC25A19_uc002jnu.4_Missense_Mutation_p.T181N|SLC25A19_uc002jnw.4_Missense_Mutation_p.T181N|SLC25A19_uc002jnt.4_Missense_Mutation_p.T181N	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	181						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GGCGATCAAGGTGGGAGCCAA	0.557000														226			27		1.55811e-20	1.62825e-20	1	1	0
HEATR4	399671	broad.mit.edu	37	14	73989171	73989171	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:73989171G>A	uc021rwe.1	-	2	1034	c.686C>T	c.(685-687)tCc>tTc	p.S229F	HEATR4_uc021rwf.1_Missense_Mutation_p.S182F|HEATR4_uc010tub.1_Missense_Mutation_p.S229F	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTTGTTGGGGGATGCCCCAGG	0.607000														41			22		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020956	72020956	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:72020956G>A	uc002atb.1	+	7	1505	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	THSD4_uc002atd.1_Missense_Mutation_p.E150K|THSD4_uc010ukg.1_Missense_Mutation_p.E116K|THSD4_uc002ate.2_Missense_Mutation_p.E116K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	476						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGAAAATACGAGGGCGGAGG	0.507000														125			27		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603702	37603702	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:37603702G>A	uc003ara.3	-	1	203	c.141C>T	c.(139-141)atC>atT	p.I47I	SSTR3_uc003arb.3_Silent_p.I47I|SSTR3_uc021wos.1_Silent_p.I47I	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	47					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						AGACCAGGGGGATCAGAACGC	0.667000														120			16		0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30133193	30133193	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:30133193C>T	uc002dws.3	-	1	405	c.305G>A	c.(304-306)gGc>gAc	p.G102D	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'UTR|MAPK3_uc002dwv.4_Missense_Mutation_p.G102D|MAPK3_uc002dwt.3_Missense_Mutation_p.G102D	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	102	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GTCTCGGATGCCGATGACATT	0.607000														26			3		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41039576	41039576	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:41039576C>T	uc003jmj.4	-	19	2525	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E234K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	679							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AAAAACTTTTCCTGATTTTGG	0.333000														6			5		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428441	57428441	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:57428441G>A	uc002xzw.3	+	0	406	c.121G>A	c.(121-123)Gct>Act	p.A41T	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGCCCCCGGTGCTGGGCCTAG	0.632000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				5			4		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167798536	167798536	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:167798536T>C	uc001ger.3	-	25	4017	c.3719A>G	c.(3718-3720)aAt>aGt	p.N1240S	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.N1087S|ADCY10_uc009wvk.3_Missense_Mutation_p.N1148S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1240					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAGTGCAGTATTCATTTGCAT	0.418000														84			4		0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45980606	45980606	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:45980606G>A	uc001coc.3	-	3	637	c.322C>T	c.(322-324)Ccg>Tcg	p.P108S	PRDX1_uc001cob.3_Missense_Mutation_p.P108S|PRDX1_uc001coa.3_Missense_Mutation_p.P108S|PRDX1_uc021omw.1_Missense_Mutation_p.P108S	NM_181696	NP_859048	Q06830	PRDX1_HUMAN	Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA.	108	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GTGCGCTTCGGGTCTGATACC	0.458000														153			23		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60545107	60545107	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:60545107G>A	uc001vht.3	-	15	2057	c.1838C>T	c.(1837-1839)cCa>cTa	p.P613L	DIAPH3_uc001vhu.3_Missense_Mutation_p.P350L|DIAPH3_uc001vhv.3_Missense_Mutation_p.P191L	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	613	FH1.|Pro-rich.			P -> L (in Ref. 3; BAE96351).	actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAGGGGAGGTGGTGGAGGCAC	0.547000														52			5		0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39650381	39650383	+	Missense_Mutation	DNP	TC	AT	AT	rs1065618		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:39650381_39650383TC>AT	uc001wuw.4	+	8	1565_1567	c.1468_1470TC>AT	c.(1468-1470)tcc>AT	p.S490del		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	490	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		tcaatcccagtcccaaccAGTAC	0.522000														42			9		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914840	31914840	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:31914840C>T	uc003nyj.4	+	2	633	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	CFB_uc011dor.2_Missense_Mutation_p.P621S|CFB_uc011dos.1_3'UTR|CFB_uc003nyi.2_Missense_Mutation_p.P119S	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	119	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCCCCGGTCTCCCTACTACAA	0.537000														55			47		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144361299	144361299	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:144361299T>A	uc003ijd.3	+	5	1708	c.1349T>A	c.(1348-1350)aTg>aAg	p.M450K	GAB1_uc003ije.3_Missense_Mutation_p.M450K|GAB1_uc011chq.2_Missense_Mutation_p.M347K	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	450	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TACGTCCCAATGAATCCCAAT	0.353000														61			38		0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46077965	46077965	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr21:46077965C>T	uc002zft.3	+	0	117	c.69C>T	c.(67-69)tcC>tcT	p.S23S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	23	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCAGGCATCCTGCTATGTGC	0.672000														114			62		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106452777	106452777	+	RNA	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:106452777T>G	uc021ser.1	-	2607		c.45183A>C								Parts of antibodies, mostly variable regions.																		GCCCTGAAACTTCTGTGCATA	0.557000														166			5		0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45059938	45059938	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:45059938C>T	uc004dgg.2	-	0	209	c.134G>A	c.(133-135)aGa>aAa	p.R45K	CXorf36_uc004dgi.3_Missense_Mutation_p.R45K	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	45						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						GTAGCTGGTTCTGACTTGGGG	0.502000														25			7		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113557192	113557192	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:113557192C>T	uc001tun.2	-	6	786	c.485G>A	c.(484-486)tGg>tAg	p.W162*	RASAL1_uc010syp.2_Nonsense_Mutation_p.W162*|RASAL1_uc001tul.3_Nonsense_Mutation_p.W162*|RASAL1_uc001tum.2_Nonsense_Mutation_p.W162*|RASAL1_uc010syq.2_Nonsense_Mutation_p.W162*|RASAL1_uc001tuo.4_Nonsense_Mutation_p.W162*|RASAL1_uc010syr.2_Nonsense_Mutation_p.W162*	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	162	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTGGCTGCCCCAAAACACACG	0.587000														8			4		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185879415	185879415	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:185879415G>A	uc003fqa.3	-	23	2791	c.2254C>T	c.(2254-2256)Ccc>Tcc	p.P752S	DGKG_uc003fqb.3_Missense_Mutation_p.P713S|DGKG_uc003fqc.3_Missense_Mutation_p.P727S|DGKG_uc011brx.2_Missense_Mutation_p.P693S	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	752					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGCATCCAGGGTTCTCCATCC	0.463000														48			14		0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598373	68598373	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:68598373C>T	uc010cff.3	+	4	1975	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A	ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Silent_p.A561A|ZFP90_uc002ewe.3_Silent_p.A561A	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	561					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GTGGGAAAGCCTTTAGTCAAA	0.438000														92			57		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412495	130412495	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:130412495G>A	uc004ewe.4	-	11	2279	c.1996C>T	c.(1996-1998)Cat>Tat	p.H666Y	IGSF1_uc004ewd.3_Missense_Mutation_p.H661Y|IGSF1_uc022cdv.1_Missense_Mutation_p.H652Y|IGSF1_uc004ewf.2_Missense_Mutation_p.H641Y	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	661	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCCATGAATGGCAGTGGTAG	0.637000														24			31		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206649565	206649565	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:206649565C>T	uc001hdz.2	+	5	978	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	IKBKE_uc009xbu.2_Missense_Mutation_p.R134C|IKBKE_uc001hea.2_Missense_Mutation_p.R49C|IKBKE_uc009xbv.2_Missense_Mutation_p.R134C	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	134	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.R134R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CATTGTGCATCGCGACATCAA	0.627000														54			6		0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114511114	114511114	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:114511114G>A	uc001eem.3	+	12	2776	c.2615G>A	c.(2614-2616)aGt>aAt	p.S872N	HIPK1_uc001eel.3_Missense_Mutation_p.S872N|HIPK1_uc001een.3_Missense_Mutation_p.S872N|HIPK1_uc001eeo.3_Missense_Mutation_p.S498N|HIPK1_uc001eep.3_Missense_Mutation_p.S478N|HIPK1_uc001eeq.3_Missense_Mutation_p.S164N	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGAGCAGTCCCCTCCGC	0.493000														67			71		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782113	134782113	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:134782113G>A	uc003lav.3	-	0	926	c.686C>T	c.(685-687)cCa>cTa	p.P229L		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	229	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAATGCAGTGGAGGTTGTTG	0.572000														52			11		0	0	1	0	0
LOC390660	390660	broad.mit.edu	37	15	82620559	82620559	+	RNA	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:82620559G>A	uc021ssl.1	+	18		c.4039G>A			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		TGGTTGTCAGGAACGCCGGCT	0.647000														25			8		0	0	1	0	0
RAD51C	5889	broad.mit.edu	37	17	56811484	56811485	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:56811484_56811485GG>AA	uc002iwu.3	+	8	1074_1075	c.1032_1033GG>AA	c.(1030-1035)caggga>caAAga	p.G345R	RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	345					DNA repair|blood coagulation	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCAGCCTCAGGGATTTAGAGA	0.342000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2					4			11		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74308964	74308964	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:74308964G>A	uc010wtb.1	-	8	898	c.677C>T	c.(676-678)tCc>tTc	p.S226F	PRPSAP1_uc010wta.1_Missense_Mutation_p.S329F	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	300					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	p.P226P(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GTCTACGGAGGACTCCTCAAT	0.483000														85			14		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24387573	24387573	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:24387573C>T	uc001bin.4	-	35	4135	c.3972_splice	c.e35-1	p.K1324_splice	MYOM3_uc001bil.4_Splice_Site_p.K217_splice|MYOM3_uc001bim.4_Splice_Site_p.K981_splice	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1324										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCAAGGTTCTGAAAAACAG	0.488000														75			25		0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12883636	12883636	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:12883636G>A	uc002muy.2	-	4	517	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	HOOK2_uc002muz.2_Nonsense_Mutation_p.Q116*	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	116	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGCACCAGCTGAAGCAGCTTG	0.597000														69			8		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70905965	70905965	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:70905965G>A	uc002ezr.3	-	64	11214	c.11063C>T	c.(11062-11064)tCa>tTa	p.S3688L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3689										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AATTGTAGCTGAAACAGGCCA	0.438000														41			23		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701854	143701854	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:143701854C>A	uc003wdt.1	+	0	765	c.765C>A	c.(763-765)ttC>ttA	p.F255L		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCATTATTTTCATGTATGCTC	0.423000														86			44		1.15183e-24	1.20952e-24	1	1	0
MYH1	4619	broad.mit.edu	37	17	10401113	10401113	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:10401113C>T	uc002gmo.3	-	30	4397	c.4303G>A	c.(4303-4305)Gat>Aat	p.D1435N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1435						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.D1435N(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCTCAACATCAATCATGAGG	0.458000														89			4		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422077	1422077	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:1422077G>A	uc003jck.3	-	4	832	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	236					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGCCACCGCGGAGGCCCCAGG	0.662000														47			18		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2190934	2190934	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:2190934G>A	uc001lvq.3	-	2	370	c.351C>T	c.(349-351)ttC>ttT	p.F117F	TH_uc001lvp.3_Silent_p.F113F|TH_uc001lvr.3_Silent_p.F86F|TH_uc010qxj.2_Silent_p.F90F|TH_uc001lvs.3_Silent_p.F86F|TH_uc001lvt.3_Silent_p.F90F|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	117					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCTCGGGGAGAAGAGCAGGT	0.667000														30			9		0	0	1	0	0
ZNF724P	440519	broad.mit.edu	37	19	23415043	23415043	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:23415043T>C	uc021uru.1	-	1	184	c.56A>G	c.(55-57)cAa>cGa	p.Q19R						Homo sapiens zinc finger protein 724, pseudogene (ZNF724P), non-coding RNA.											endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GTCCAGGCATTGCCACTCCTC	0.423000														121			27		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57512603	57512603	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:57512603C>T	uc003pdx.3	+	14	1515	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	477					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AACCAAGTGTCCAGAAAACCA	0.398000														306			22		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348231	7348231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:7348231C>T	uc003bqm.2	+	3	1199	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.L309F|GRM7_uc003bql.2_Missense_Mutation_p.L309F|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	309					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGCCATTTTCTTTGGGTGGG	0.473000														46			12		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865792	47865792	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:47865792C>A	uc002xui.3	-	13	4016	c.3769G>T	c.(3769-3771)Ggc>Tgc	p.G1257C		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1257							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)			AGCATGGGGCCTATTTGATTG	0.517000														114			18		3.32936e-07	3.40801e-07	1	1	0
RNF40	9810	broad.mit.edu	37	16	30779532	30779532	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:30779532C>T	uc002dzq.3	+	12	2480	c.1660C>T	c.(1660-1662)Cct>Tct	p.P554S	RNF40_uc010caa.3_Missense_Mutation_p.P554S|RNF40_uc010cab.3_Missense_Mutation_p.P454S|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Missense_Mutation_p.P246S|RNF40_uc002dzr.3_Missense_Mutation_p.P554S|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	554					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGGGCCAGGCCCTGTCAGTAC	0.632000														54			23		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124358207	124358208	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:124358207_124358208CC>TT	uc001uft.4	+	44	7559_7560	c.7534_7535CC>TT	c.(7534-7536)ccc>TTc	p.P2512F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2512	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTACGGCCCACCCATGGGAAAA	0.480000														15			5		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27148121	27148121	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:27148121C>T	uc011jzl.2	-	2	945	c.745G>A	c.(745-747)Gat>Aat	p.D249N	HOXA3_uc003syk.3_Missense_Mutation_p.D249N	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	249					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCCTTCTGATCCTTTTTGTAC	0.602000														125			58		0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46702913	46702913	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:46702913G>A	uc002eef.4	-	12	1675	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	VPS35_uc002eed.3_Missense_Mutation_p.R347C|VPS35_uc002eee.3_Missense_Mutation_p.R487C	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	526				R -> G (in Ref. 5; BAA91790).	protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGTGTGAAGCGAATCCGCTGA	0.368000														60			18		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807791	86807791	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:86807791G>A	uc002blz.1	+	9	1331	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	AGBL1_uc002bma.1_Silent_p.P148P|AGBL1_uc002bmb.1_Silent_p.P111P	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	417			P -> L (in dbSNP:rs8029810).		C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGGCTTCCCCGAAAGCAGATG	0.428000														72			48		0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676088	9676088	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:9676088C>T	uc010vvb.2	-	4	739	c.726G>A	c.(724-726)tgG>tgA	p.W242*	DHRS7C_uc010cof.3_Nonsense_Mutation_p.W241*	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	242						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCTCACATTTCCAAATGGAAG	0.547000														24			18		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673152	20673152	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:20673152G>A	uc002dhm.1	-	5	1024	c.956C>T	c.(955-957)tCt>tTt	p.S319F	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.S319F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	319					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCGATATATAGATGATACCCC	0.368000														36			5		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052819	17052819	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:17052819C>T	uc011awc.2	+	2	2053	c.1957C>T	c.(1957-1959)Cca>Tca	p.P653S	PLCL2_uc011awd.2_Missense_Mutation_p.P535S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	661	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAATGAAAATCCAGGGGACTT	0.393000														77			20		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54403646	54403646	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:54403646G>A	uc002iun.1	+	2	162	c.127G>A	c.(127-129)Gat>Aat	p.D43N		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	43										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGCCAATGTGATTTATTGAA	0.408000														20			46		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228504556	228504556	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:228504556A>T	uc009xez.1	+	50	13476	c.13432A>T	c.(13432-13434)Agc>Tgc	p.S4478C	OBSCN_uc001hsn.3_Missense_Mutation_p.S4478C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4478	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCGGATGACAGCGACTGGAC	0.706000														9			4		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144101650	144101650	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:144101650G>A	uc022aoj.1	-	2	210	c.210_splice	c.e2+1	p.S70_splice		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	70					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ccCCCGTACTGATTTGAGGGT	0.557000														29			26		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534276	31534276	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:31534276C>T	uc003aka.3	-	2	897	c.768G>A	c.(766-768)tgG>tgA	p.W256*		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	256	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCCACCAGTACCACGCCACAC	0.617000														30			10		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955845	38955845	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:38955845G>A	uc002hvh.1	-	0	367	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	101	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ACATTATCCAGGTAGGATGCC	0.468000														104			17		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97124035	97124035	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:97124035C>T	uc010how.1	+	5	1691	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	455						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGGGCATCCCAAAATAGCAT	0.413000														11			4		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66053984	66053984	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:66053984C>T	uc011dxu.1	-	9	2084	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	EYS_uc003peq.3_Missense_Mutation_p.D516N|EYS_uc003per.1_Missense_Mutation_p.D516N|EYS_uc021zbn.1_Missense_Mutation_p.D516N	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	516					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTCAGGATCGTTCACATAG	0.373000														31			26		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958627	121958627	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:121958627G>A	uc003idq.1	-	3	1026	c.499C>T	c.(499-501)Cca>Tca	p.P167S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	167										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCAGATTCTGGAGTTGTGGTG	0.463000														82			29		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166306	206166306	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:206166306G>A	uc002var.2	+	17	2718	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	PARD3B_uc010fub.2_Silent_p.T837T|PARD3B_uc002vao.2_Silent_p.T837T|PARD3B_uc002vap.2_Silent_p.T775T|PARD3B_uc002vaq.2_Silent_p.T768T	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	837	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				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)		TCAAAAAAACgaaagagaagg	0.433000														57			13		0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42537686	42537686	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:42537686C>T	uc003bci.3	-	6	955	c.574_splice	c.e6-1	p.A192_splice	CYP2D7P1_uc003bcg.3_Splice_Site|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Splice_Site|CYP2D7P1_uc021wqk.1_Splice_Site|CYP2D7P1_uc010gyx.1_Intron					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						TCCCCTTGGCCTGAGCAGGGC	0.602000														38			5		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987197	61987197	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:61987197C>T	uc001vid.4	-	1	1399	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	PCDH20_uc010thj.2_Silent_p.V345V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	318	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGTCTTTATCCACAGCCTGGA	0.428000														75			8		0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158063187	158063187	+	Silent	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:158063187C>A	uc001frn.4	+	11	1934	c.1530C>A	c.(1528-1530)atC>atA	p.I510I	KIRREL_uc010pib.2_Silent_p.I410I|KIRREL_uc009wsq.3_Silent_p.I346I|KIRREL_uc001fro.4_Silent_p.I324I	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	510						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TCCTGCTCATCTTCTTCTTCA	0.597000														133			4		0.014758	0.0148264	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51889700	51889700	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:51889700C>T	uc003pah.1	-	31	5184	c.4908G>A	c.(4906-4908)ctG>ctA	p.L1636L	PKHD1_uc003pai.3_Silent_p.L1636L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1636	IPT/TIG 11.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTCTATTTCCAGGGCAACAG	0.483000														72			33		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109088547	109088547	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:109088547G>A	uc002tec.3	+	5	2916	c.2762G>A	c.(2761-2763)aGg>aAg	p.R921K	GCC2_uc002ted.3_Missense_Mutation_p.R820K	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	921					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTACGAGATAGGAGAGCAGAG	0.274000														53			11		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934665	30934665	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:30934665G>A	uc002nsu.1	+	1	334	c.196G>A	c.(196-198)Gag>Aag	p.E66K	ZNF536_uc010edd.1_Missense_Mutation_p.E66K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCCCTGGAGGAGAAGGCCCA	0.682000														86			15		0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96356164	96356164	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:96356164G>A	uc001tel.2	+	5	951	c.845G>A	c.(844-846)aGc>aAc	p.S282N	AMDHD1_uc009zth.2_Missense_Mutation_p.S173N	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	282					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CAGGCAATCAGCCACCTGGAA	0.512000														34			5		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39929628	39929628	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:39929628G>A	uc003guv.4	-	2	835	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	PDS5A_uc003guw.4_Missense_Mutation_p.R99C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	99					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GCATAGATACGAAAGATATCA	0.398000														36			13		0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:49395482G>C	uc021wxw.1	-	0	310	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_uc021wxx.1_Missense_Mutation_p.P77R	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	77					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000														30			3		0	0	1	0	0
TLX3	30012	broad.mit.edu	37	5	170736487	170736487	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:170736487G>T	uc003mbf.3	+	0	200	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	AX746723_uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.	40						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGCCCCGACGGCGCCAGCTA	0.756000			T	BCL11B	T-ALL									9			4		1.23904e-05	1.26037e-05	1	1	0
SURF6	6838	broad.mit.edu	37	9	136200572	136200572	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:136200572G>A	uc004cdb.4	-	2	453	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_006753	NP_006744	O75683	SURF6_HUMAN	Homo sapiens surfeit 6 (SURF6), mRNA.	125						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GGGCCTCCTGGATCTTCTCAT	0.637000														21			4		0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195447909	195447909	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:195447909C>T	uc010hzo.3	+	0	157	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F		NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	11					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GGCTCTGCCCCTTTTCTTCTT	0.617000														10			3		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18382265	18382265	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:18382265G>A	uc002zng.4	-	6	1250	c.897C>T	c.(895-897)ttC>ttT	p.F299F	MICAL3_uc011agl.2_Silent_p.F299F|MICAL3_uc002znh.2_Silent_p.F299F|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Silent_p.F299F|MICAL3_uc002znl.1_Intron|MICAL3_uc010grf.3_Silent_p.F299F|MICAL3_uc011agm.1_Silent_p.F299F	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	299						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGTCATAACGAAATAGTGTG	0.413000														11			6		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50734115	50734115	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:50734115C>T	uc002lfe.2	+	10	2405	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	DCC_uc010xdr.1_Nonsense_Mutation_p.R445*|DCC_uc010dpf.2_Nonsense_Mutation_p.R252*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	597	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R597Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATATAGTCTTCGATTCTTAGC	0.373000														54			17		0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335627	335627	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:335627C>T	uc002cgn.1	+	11	2151	c.1043C>T	c.(1042-1044)gCg>gTg	p.A348V	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.A348V|PDIA2_uc010bqt.1_Missense_Mutation_p.A193V	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	348					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	p.A348E(2)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AAGAAGTATGCGCCTGTGGAT	0.582000														50			3		0	0	1	0	0
IL3	3562	broad.mit.edu	37	5	131396680	131396680	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:131396680G>A	uc003kwe.1	+	1	236	c.183G>A	c.(181-183)ggG>ggA	p.G61G		NM_000588	NP_000579	P08700	IL3_HUMAN	Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.	61					cell-cell signaling|immune response|nervous system development|positive regulation of DNA replication|positive regulation of cell proliferation|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	ACCTCAATGGGGAAGACCAAG	0.557000														35			10		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75277247	75277247	+	Silent	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:75277247C>A	uc001juo.3	-	17	2954	c.2937G>T	c.(2935-2937)ggG>ggT	p.G979G	USP54_uc010qkk.2_Silent_p.G161G|USP54_uc001juk.3_Silent_p.G67G|USP54_uc001jul.3_Silent_p.G67G|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	979					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCTCAGTCCACCCTGGTGCTT	0.512000														37			3		0.115264	0.115442	1	1	0
CASC5	57082	broad.mit.edu	37	15	40914789	40914789	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:40914789C>T	uc010bbs.1	+	10	2566	c.2405C>T	c.(2404-2406)cCt>cTt	p.P802L	CASC5_uc010ucq.1_Missense_Mutation_p.P626L|CASC5_uc001zme.3_Missense_Mutation_p.P776L|CASC5_uc010bbt.1_Missense_Mutation_p.P776L	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	802					CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGATTTGGTCCTTCTGAACTA	0.388000														39			7		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037523	14037524	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:14037523_14037524CC>TA	uc002mxo.2	+	18	2357_2358	c.2058_2059CC>TA	c.(2056-2061)ttcccc>ttTAcc	p.P687T	CC2D1A_uc002mxp.2_Missense_Mutation_p.P687T|CC2D1A_uc010dzh.2_Missense_Mutation_p.P256T|CC2D1A_uc002mxq.1_Missense_Mutation_p.P332T	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	687	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGTTTGACTTCCCCTATCCCAA	0.624000														130			24		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607377	42607378	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:42607377_42607378GG>AA	uc003bcj.1	-	0	4068_4069	c.3934_3935CC>TT	c.(3934-3936)cct>TTt	p.P1312F	TCF20_uc003bck.1_Missense_Mutation_p.P1312F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ATCTCTCTTAGGGATAGACTTG	0.470000														181			29		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111785270	111785270	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:111785270C>T	uc010hqb.2	+	10	1379	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	TMPRSS7_uc011bhr.1_Silent_p.S258S	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	529	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATACCAGCTCCTTCAGGCAGC	0.507000														97			36		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541284	31541284	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:31541284C>T	uc011dnu.1	+	3	645	c.432C>T	c.(430-432)ttC>ttT	p.F144F	LTA_uc003nue.1_Silent_p.F144F|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Intron|LTA_uc010jsr.3_Intron|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	144					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	p.P143A(1)		endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	AGTACCCCTTCCATGTGCCTC	0.617000														120			55		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263791	140263791	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140263791C>T	uc003lif.2	+	0	1938	c.1938C>T	c.(1936-1938)cgC>cgT	p.R646R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.R646R|PCDHAC2_uc003lid.3_Silent_p.R646R	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	657	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCACCACCGCCTTCTGGTGC	0.706000														63			12		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134906683	134906683	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:134906683A>T	uc001llw.3	+	9	1954	c.1954A>T	c.(1954-1956)Agg>Tgg	p.R652W	GPR123_uc001llx.4_Intron			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	213						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCTCACCCGCAGGGAGGAAGA	0.557000														5			3		0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8243540	8243540	+	Silent	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:8243540C>A	uc002gle.1	+	0	353	c.171C>A	c.(169-171)tcC>tcA	p.S57S		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	57					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GTAACAGGTCCTTGGGCCAGC	0.592000														34			8		0.000274275	0.000277693	1	1	0
SH2D3C	10044	broad.mit.edu	37	9	130509465	130509465	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:130509465G>A	uc004bsc.3	-	5	1367	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	SH2D3C_uc010mxo.3_Missense_Mutation_p.P249S|SH2D3C_uc004bry.3_Missense_Mutation_p.P251S|SH2D3C_uc004brz.4_Missense_Mutation_p.P55S|SH2D3C_uc011mak.2_Missense_Mutation_p.P55S|SH2D3C_uc004bsb.3_Missense_Mutation_p.P341S|SH2D3C_uc004bsa.3_Missense_Mutation_p.P252S	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	409					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCGGAGATGGGCGACATGGGT	0.622000														54			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179643732	179643732	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179643732T>G	uc021vsy.1	-	23	4302	c.4077A>C	c.(4075-4077)gaA>gaC	p.E1359D	TTN_uc021vsz.1_Missense_Mutation_p.E1313D|TTN_uc021vta.1_Missense_Mutation_p.E1313D|TTN_uc021vtb.1_Missense_Mutation_p.E1313D|TTN_uc002unb.2_Missense_Mutation_p.E1359D|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1359	Ig-like 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L1359>?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAGATTCCTTCATCTTCTG	0.438000														43			5		0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1360163	1360163	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:1360163C>T	uc002lrz.2	+	4	356	c.246C>T	c.(244-246)ccC>ccT	p.P82P	MUM1_uc010dsi.2_Silent_p.P13P|MUM1_uc002lsb.2_Silent_p.P13P|MUM1_uc010xgm.1_Silent_p.P81P|MUM1_uc002lsc.1_Silent_p.P13P	NM_032853	NP_116242	Q2TAK8	MUM1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA.	81					DNA repair|chromatin organization	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGGCACCCCTGGAAGAAC	0.577000											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			4		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023102	18023102	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:18023102G>A	uc021trm.1	+	0	1207	c.988G>A	c.(988-990)Gat>Aat	p.D330N	MYO15A_uc021trl.1_Missense_Mutation_p.D330N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	330	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGCTACCACGATGGGTACGA	0.612000														41			46		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29054139	29054139	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:29054139G>A	uc002kws.3	+	14	2266	c.2157G>A	c.(2155-2157)atG>atA	p.M719I	DSG3_uc002kwt.3_Missense_Mutation_p.M1I	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	719					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTCAGGAATGGAAATGACCA	0.478000														57			16		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25835099	25835099	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:25835099C>T	uc003gru.4	-	3	1105	c.953G>A	c.(952-954)gGc>gAc	p.G318D		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	318						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AGAAGGTGTGCCGTACATCTC	0.368000														40			5		0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44439731	44439731	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:44439731C>T	uc002xpk.3	+	12	955	c.887C>T	c.(886-888)tCc>tTc	p.S296F	UBE2C_uc002xpl.3_5'Flank|UBE2C_uc002xpm.3_5'Flank|UBE2C_uc002xpn.3_5'Flank|UBE2C_uc002xpo.3_5'Flank|UBE2C_uc002xpp.3_5'Flank|UBE2C_uc002xpq.3_5'Flank	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	296						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GAATTGAAATCCTTTGTCCTA	0.498000														147			21		0	0	1	0	0
PGLS	25796	broad.mit.edu	37	19	17628188	17628188	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:17628188C>T	uc002ngw.3	+	2	538	c.488C>T	c.(487-489)cCc>cTc	p.P163L		NM_012088	NP_036220	O95336	6PGL_HUMAN	Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA.	163						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						CCAGACCACCCCCTCCTACAG	0.637000														114			30		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196295881	196295881	+	Nonsense_Mutation	SNP	C	A	A	rs149408068		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:196295881C>A	uc001gtd.1	-	18	2302	c.2242G>T	c.(2242-2244)Gaa>Taa	p.E748*	KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Nonsense_Mutation_p.E698*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.E748*|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Nonsense_Mutation_p.E748*|KCNT2_uc001gth.1_Nonsense_Mutation_p.E269*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	748						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGATTAAGTTCTTTCTTTGGT	0.289000														42			7		1.12685e-05	1.14805e-05	1	1	0
TRPC1	7220	broad.mit.edu	37	3	142511691	142511691	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:142511691A>T	uc003evc.3	+	8	1599	c.1463A>T	c.(1462-1464)gAt>gTt	p.D488V	TRPC1_uc003evb.3_Missense_Mutation_p.D454V|TRPC1_uc011bni.1_Intron	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	488					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GATCGGAAGGATTGGGATGCA	0.368000														49			20		0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726741	25726741	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:25726741C>T	uc003nfc.3	-	0	50	c.15G>A	c.(13-15)ggG>ggA	p.G5G	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	5					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTCCCTGCTTCCCTCGTCCAG	0.522000														111			24		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84506853	84506853	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:84506853G>A	uc002bjz.4	+	6	837	c.613G>A	c.(613-615)Gat>Aat	p.D205N	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.D205N|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D205N	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	205						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTGGGCTGCGATCGGCAACT	0.562000														43			15		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002832	69002832	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:69002832C>T	uc003xxv.1	+	19	2159	c.2132C>T	c.(2131-2133)gCt>gTt	p.A711V	PREX2_uc003xxu.1_Missense_Mutation_p.A711V|PREX2_uc011lez.1_Missense_Mutation_p.A646V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	711	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCTGCAGCAGCTGGTCTTCAC	0.393000														57			7		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686565	125686565	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:125686565C>G	uc022cds.1	-	0	27	c.27G>C	c.(25-27)agG>agC	p.R9S	DCAF12L1_uc004eul.3_Missense_Mutation_p.R9S	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	9										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTTTCCGTTTCCTGCTACCTG	0.721000														31			14		0	0	1	0	0
FGF8	2253	broad.mit.edu	37	10	103530212	103530212	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:103530212G>A	uc001ktp.2	-	5	678	c.576C>T	c.(574-576)ttC>ttT	p.F192F	FGF8_uc001kts.2_Silent_p.F163F|FGF8_uc009xwr.2_Silent_p.F99F|FGF8_uc001ktq.2_Silent_p.F203F|FGF8_uc001ktr.2_Silent_p.F174F|FGF8_uc021pxg.1_Silent_p.F99F	NM_033164	NP_001193318	P55075	FGF8_HUMAN	Homo sapiens fibroblast growth factor 8 (androgen-induced) (FGF8), transcript variant E, mRNA.	192					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GCCGCTTCATGAAGTGGACCT	0.672000														13			6		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2998506	2998506	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:2998506G>A	uc010zqd.2	+	11	1338	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	PTPRA_uc002whj.3_Missense_Mutation_p.E330K|PTPRA_uc002whk.3_Missense_Mutation_p.E321K|PTPRA_uc002whl.3_Missense_Mutation_p.E321K|PTPRA_uc002whm.3_Missense_Mutation_p.E97K|PTPRA_uc002whn.3_Missense_Mutation_p.E321K|PTPRA_uc002who.3_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	330	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GATGATCTGGGAACAAAACAC	0.428000														51			13		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113403550	113403550	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:113403550G>A	uc001tug.3	+	12	2491	c.2404_splice	c.e12-1	p.G802_splice		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	802	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCTCTCCAGGGTGGCTCTTCA	0.567000														6			5		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587504	42587504	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:42587504C>T	uc003xpi.1	+	4	1182	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	352					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CATGAAAGATCATGTGGATCG	0.453000														78			17		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940370	144940370	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:144940370G>A	uc003zaa.1	-	0	7065	c.7052C>T	c.(7051-7053)cCc>cTc	p.P2351L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2351						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGTGCACGGGGTCGATGAC	0.687000														699			8		0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27837968	27837968	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:27837968C>T	uc002hdz.2	+	14	1856	c.1662C>T	c.(1660-1662)tcC>tcT	p.S554S	TAOK1_uc010wbe.2_Silent_p.S554S|TAOK1_uc002heb.1_Silent_p.S380S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	554					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTCTCGAGTCCCAGAAAAGAG	0.333000														44			53		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933022	39933022	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:39933022G>A	uc004den.4	-	3	1869	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	BCOR_uc004dep.4_Missense_Mutation_p.S526L|BCOR_uc004deo.4_Missense_Mutation_p.S526L|BCOR_uc004dem.4_Missense_Mutation_p.S526L|BCOR_uc004deq.4_Missense_Mutation_p.S526L	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	526					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.M525I(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTTTTTCAGCGACATGCTTTT	0.537000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							21			21		0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67321007	67321007	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:67321007C>T	uc010cef.3	+	17	3329	c.3030C>T	c.(3028-3030)tcC>tcT	p.S1010S	PLEKHG4_uc002eso.4_Silent_p.S1010S|PLEKHG4_uc002esp.4_Silent_p.S817S|PLEKHG4_uc002esq.4_Silent_p.S1010S|PLEKHG4_uc002ess.4_Silent_p.S1010S|PLEKHG4_uc010ceg.3_Silent_p.S929S	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	1010	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGCAGGCCTCCAGCCTGGCTA	0.622000														42			10		0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143365802	143365802	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:143365802G>A	uc003ywj.3	-	9	1377	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	TSNARE1_uc011lju.2_Silent_p.S444S|TSNARE1_uc003ywk.3_Silent_p.S445S|TSNARE1_uc003ywl.4_Silent_p.S226S	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	445	t-SNARE coiled-coil homology.				vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTGACACCATGGAGGCCAAGT	0.617000														62			10		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74124036	74124036	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:74124036T>C	uc003hgp.3	-	0	467	c.350A>G	c.(349-351)gAg>gGg	p.E117G	ANKRD17_uc003hgq.3_Missense_Mutation_p.E117G|ANKRD17_uc003hgr.3_Missense_Mutation_p.E117G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	117					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTCTTCTTCCTCGCTGTTGTT	0.642000														148			6		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488424	1488424	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:1488424G>A	uc002qwr.3	+	8	1481	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.Q465Q|TPO_uc002qwx.3_Silent_p.Q465Q|TPO_uc002qwu.3_Silent_p.Q465Q|TPO_uc010yio.2_Silent_p.Q292Q|TPO_uc010yip.2_Silent_p.Q465Q|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	465					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTTCCAGCAGTACGTGGGTC	0.587000														28			5		0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128199961	128199961	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:128199961G>A	uc003ekm.3	-	6	1779	c.1344C>T	c.(1342-1344)caC>caT	p.H448H	GATA2_uc003ekn.3_Silent_p.H434H|GATA2_uc003eko.2_Silent_p.H448H	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	448					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGTGTCCGGAGTGGCTGAAGG	0.657000			Mis		AML(CML blast transformation)									68			60		0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726603	46726603	+	Silent	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:46726603C>A	uc001nde.2	+	4	1634	c.1353C>A	c.(1351-1353)tcC>tcA	p.S451S	ZNF408_uc010rgw.2_Silent_p.S443S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCGGCCCTCCCTGCGGCTGC	0.677000														70			19		1.9806e-07	2.03058e-07	1	1	0
TLN2	83660	broad.mit.edu	37	15	62989953	62989953	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:62989953G>A	uc002alb.4	+	11	1359	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	453					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGCGCTGCCGGCCGTGATGC	0.642000														80			38		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088123	57088123	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:57088123A>G	uc002qnl.4	+	5	1002	c.326A>G	c.(325-327)cAg>cGg	p.Q109R	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCTTTAAACCAGGATATTTAT	0.323000														58			4		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702087	179702087	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179702087A>T	uc002une.2	-	22	3977	c.3859T>A	c.(3859-3861)Ttt>Att	p.F1287I	CCDC141_uc002unf.1_Missense_Mutation_p.F766I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	712							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGCCTCTCAAAATGACTTGAA	0.498000														63			13		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3817765	3817765	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:3817765C>T	uc002cvv.3	-	15	3410	c.3206G>A	c.(3205-3207)gGc>gAc	p.G1069D	CREBBP_uc002cvw.3_Missense_Mutation_p.G1031D	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1069					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.G1069D(2)|p.G1069S(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAGGCTGTGCCGTTACTGCT	0.428000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							106			4		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046488	17046488	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:17046488G>A	uc001azn.1	-	0	165	c.51C>T	c.(49-51)tcC>tcT	p.S17S						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GAAGCCTCAGGGAGGGGAAGT	0.617000														109			7		0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18258628	18258628	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:18258628G>A	uc003ncr.1	-	2	347	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	DEK_uc011djf.1_Intron|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	52					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TCCACGATGAGACTCTTTTCT	0.328000			T	NUP214	AML									63			24		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9321521	9321521	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:9321521G>A	uc001qvl.3	-	16	2080	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L	PZP_uc009zgl.3_Missense_Mutation_p.S553L|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Missense_Mutation_p.S16L	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GACTGAACACGACTTTGGTTT	0.363000														71			25		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15965063	15965063	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:15965063C>A	uc002gpo.3	-	36	5802	c.5533G>T	c.(5533-5535)Gaa>Taa	p.E1845*	NCOR1_uc002gpn.3_Intron|NCOR1_uc002gpm.3_Nonsense_Mutation_p.E365*|NCOR1_uc010vwb.2_Nonsense_Mutation_p.E429*|NCOR1_uc010coy.3_Nonsense_Mutation_p.E753*|NCOR1_uc010vwc.2_Nonsense_Mutation_p.E655*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1845	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGCAGCTTCATGCTTACTC	0.507000														80			23		7.88262e-20	8.21107e-20	1	1	0
CILP	8483	broad.mit.edu	37	15	65490069	65490069	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:65490069G>A	uc002aon.2	-	8	2736	c.2555C>T	c.(2554-2556)cCc>cTc	p.P852L		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	852					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTTGAGATAGGGCTGAGGGAC	0.527000														92			19		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7811348	7811348	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:7811348T>G	uc002mht.2	-	2	243	c.176A>C	c.(175-177)cAa>cCa	p.Q59P	CD209_uc010xju.1_Missense_Mutation_p.Q59P|CD209_uc010dvp.2_Intron|CD209_uc002mhr.2_Intron|CD209_uc002mhs.2_Intron|CD209_uc002mhu.2_Missense_Mutation_p.Q59P|CD209_uc010dvq.2_Missense_Mutation_p.Q59P|CD209_uc002mhq.2_Missense_Mutation_p.Q59P|CD209_uc002mhv.2_Intron|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.Q59P	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	59					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCTGACCTTGGACAAGGAG	0.632000														76			15		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131476520	131476520	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:131476520G>A	uc004bvw.3	+	10	1750	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	PKN3_uc010myh.3_Missense_Mutation_p.A453T|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	453					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CGGCATGGCGGCCTGGGGGCG	0.647000														110			26		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72666940	72666940	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:72666940G>A	uc001sxa.3	+	0	412	c.382G>A	c.(382-384)Gag>Aag	p.E128K	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	128					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCCGTCGGAGGAGGAGCGGGA	0.711000														24			10		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205035721	205035721	+	Missense_Mutation	SNP	C	T	T	rs2305276		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:205035721C>T	uc001hbr.3	+	14	2238	c.1969C>T	c.(1969-1971)Cgg>Tgg	p.R657W	CNTN2_uc001hbq.1_Missense_Mutation_p.R548W|CNTN2_uc001hbs.3_Missense_Mutation_p.R445W	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	657	Fibronectin type-III 1.		R -> W (in dbSNP:rs2305276).		axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAAGCAGGTTCGGACCAGTAA	0.602000														30			7		0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59895603	59895603	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:59895603C>T	uc002lil.3	+	7	1435	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	KIAA1468_uc002lik.1_Missense_Mutation_p.P407L|KIAA1468_uc010xel.2_Missense_Mutation_p.P407L|KIAA1468_uc002lim.3_Missense_Mutation_p.P51L	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	407							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTTCAGCCTCCTTTGGATCAG	0.423000														101			18		0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66280088	66280088	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:66280088G>A	uc003hcy.3	-	6	1794	c.1601C>T	c.(1600-1602)tCa>tTa	p.S534L	EPHA5_uc003hcx.3_Missense_Mutation_p.S465L|EPHA5_uc003hcz.3_Missense_Mutation_p.S534L|EPHA5_uc011cah.2_Missense_Mutation_p.S534L|EPHA5_uc011cai.2_Missense_Mutation_p.S534L|EPHA5_uc003hda.2_Missense_Mutation_p.S534L	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	534	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GACATAAACTGAAGCTGGTTT	0.423000										TSP Lung(17;0.13)				41			32		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165586572	165586572	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:165586572G>A	uc002ucp.3	-	2	506	c.284C>T	c.(283-285)cCa>cTa	p.P95L	COBLL1_uc002ucq.3_Missense_Mutation_p.P95L|COBLL1_uc010zcw.2_Missense_Mutation_p.P148L|COBLL1_uc010zcx.2_Missense_Mutation_p.P141L|COBLL1_uc002ucs.1_Non-coding_Transcript	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	133										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTAACTTGATGGATTTAAGTG	0.343000														29			20		0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13248977	13248977	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:13248977C>T	uc002mwm.3	+	5	1509	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	447	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCCAGAACTTCGCCCCCAACT	0.642000														162			4		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38828377	38828377	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:38828377C>T	uc021yzh.1	+	42	6212	c.6103C>T	c.(6103-6105)Cgt>Tgt	p.R2035C	DNAH8_uc003ooe.2_Missense_Mutation_p.R1818C	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGTACTGATCGTCTTGTTAT	0.289000														15			6		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760770	92760770	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:92760770G>A	uc003umh.1	-	4	5731	c.4515C>T	c.(4513-4515)tcC>tcT	p.S1505S	SAMD9L_uc003umj.1_Silent_p.S1505S|SAMD9L_uc003umi.1_Silent_p.S1505S|SAMD9L_uc010lfb.1_Silent_p.S1505S|SAMD9L_uc003umk.1_Silent_p.S1505S|SAMD9L_uc010lfc.1_Silent_p.S1505S|SAMD9L_uc010lfd.1_Silent_p.S1505S|SAMD9L_uc022ahh.1_Silent_p.S1505S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1505								p.S1505F(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTGCCAGAGGGAATTTGTAT	0.423000														80			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187583	140187583	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140187583G>A	uc003lhi.2	+	0	912	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E271K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E271K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	286	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATTTAGACGAAGGATTGAA	0.343000														49			11		0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116609279	116609279	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:116609279C>T	uc001egb.4	+	10	1634	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C		NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	502					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTATTCGTATCGCAGGCTGGG	0.478000														13			3		0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911080	59911080	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:59911080C>T	uc002age.3	+	2	1092	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	GCNT3_uc002agd.3_Nonsense_Mutation_p.Q215*|GCNT3_uc021smz.1_Nonsense_Mutation_p.Q215*	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	215					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGACTTGCTCCAGAGCTCAGT	0.498000														130			23		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551573	1551573	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:1551573G>A	uc010gai.3	-	3	1061	c.962C>T	c.(961-963)gCc>gTc	p.A321V	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	321	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTCCCTGTGGGCACAGGTGTT	0.552000														127			22		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120959317	120959317	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:120959317C>T	uc003eec.4	+	13	1503	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F	STXBP5L_uc011bji.2_Missense_Mutation_p.L455F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	455					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCTTGGAACCTTGGAGCACA	0.323000														41			19		0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210658513	210658513	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:210658513C>T	uc010zjc.1	+	6	948	c.868C>T	c.(868-870)Cac>Tac	p.H290Y	UNC80_uc021vvx.1_Missense_Mutation_p.H290Y|UNC80_uc002vdj.1_Missense_Mutation_p.H290Y	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	290						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TTCAGGCTGTCACCGAGGAAA	0.483000														44			30		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330013	138330013	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:138330013G>A	uc002tva.1	+	15	3220	c.3220G>A	c.(3220-3222)Gat>Aat	p.D1074N	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGGAGCAGTGGATAGCAACCT	0.433000														23			14		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29608202	29608202	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:29608202C>T	uc001rix.1	-	19	2417	c.2417G>A	c.(2416-2418)tGg>tAg	p.W806*		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	806	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGATTGGATCCAGTCCAAGAA	0.418000														51			38		0	0	1	0	0
ZFP161	7541	broad.mit.edu	37	18	5291963	5291963	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:5291963G>A	uc002kmq.3	-	3	406	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	ZFP161_uc002kmr.3_Missense_Mutation_p.R82C|ZFP161_uc010dkp.3_Missense_Mutation_p.R82C|ZFP161_uc021ugn.1_Missense_Mutation_p.R82C	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	82	BTB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R82H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						ATATCAGAACGAAGAAAATCT	0.373000														53			7		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459632	107459632	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:107459632C>T	uc002tdq.3	-	1	921	c.802G>A	c.(802-804)Gag>Aag	p.E268K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E268K|ST6GAL2_uc002tds.3_Missense_Mutation_p.E268K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	268					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AAGGGCGCCTCGGTGCCGTCC	0.766000														5			4		0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95262811	95262811	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:95262811C>T	uc003ygi.3	-	4	742	c.618G>A	c.(616-618)ggG>ggA	p.G206G	GEM_uc003ygj.3_Silent_p.G206G	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	206					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CACAGGCTCTCCCTTCTGGGA	0.532000														20			5		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47342753	47342753	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:47342753C>G	uc001wwj.4	-	13	2793	c.2635G>C	c.(2635-2637)Ggc>Cgc	p.G879R	MDGA2_uc001wwh.4_Missense_Mutation_p.G12R|MDGA2_uc001wwi.4_Missense_Mutation_p.G581R|MDGA2_uc010ani.3_Missense_Mutation_p.G370R	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	810	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCCTTTTCGCCTTCCAATCTG	0.368000														82			26		0	0	1	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109674142	109674142	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:109674142C>T	uc003hzc.3	-	5	708	c.527G>A	c.(526-528)gGa>gAa	p.G176E	AGXT2L1_uc010imc.3_Missense_Mutation_p.G170E|AGXT2L1_uc011cfm.2_Missense_Mutation_p.G136E|AGXT2L1_uc011cfn.2_Missense_Mutation_p.G103E|AGXT2L1_uc011cfo.2_Missense_Mutation_p.G118E	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	176					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TCTATATTTTCCTCTGTAAGT	0.383000														37			14		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165987910	165987910	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:165987910G>A	uc002ucx.3	-	15	2901	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	SCN3A_uc002ucy.3_Silent_p.F754F|SCN3A_uc002ucz.3_Silent_p.F754F|SCN3A_uc002uda.1_Silent_p.F623F|SCN3A_uc002udb.1_Silent_p.F623F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	803						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTCTGCTGTGAAAATCCCAG	0.358000														83			12		0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2438167	2438167	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:2438167G>A	uc002lvy.3	-	3	705	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	206	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCTCCTCGAACACACTCT	0.627000														81			18		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88855056	88855056	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:88855056C>T	uc010kbz.3	-	2	68	c.-62_splice	c.e2-1		CNR1_uc011dzr.2_Splice_Site|CNR1_uc011dzs.2_Splice_Site|CNR1_uc003pmq.4_Splice_Site|CNR1_uc011dzt.2_Splice_Site|CNR1_uc010kca.3_Splice_Site|CNR1_uc021zco.1_5'Flank	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.						G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGGGGGCAATCCTAAGAGGAG	0.433000														25			13		0	0	1	0	0
NMI	9111	broad.mit.edu	37	2	152128175	152128175	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:152128175A>C	uc002txi.2	-	6	1036	c.706T>G	c.(706-708)Tct>Gct	p.S236A		NM_004688	NP_004679	Q13287	NMI_HUMAN	Homo sapiens N-myc (and STAT) interactor (NMI), mRNA.	236					JAK-STAT cascade|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		GTGTATGGAGAAACAGTAACT	0.343000														73			18		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154714	100154714	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:100154714G>A	uc001dsg.3	+	6	1341	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	300					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGGTGTAAATGAATCCATACA	0.448000														47			11		0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20876534	20876534	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:20876534C>A	uc010tze.1	-	1	286	c.79G>T	c.(79-81)Gat>Tat	p.D27Y	NBEAP1_uc010tzd.2_Non-coding_Transcript					Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																		GATAAACCATCAAGGTATTTT	0.353000														52			5		0.014758	0.0148264	1	1	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000														16			3		0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56429091	56429091	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:56429091C>T	uc001sjb.1	+	8	1893	c.1734C>T	c.(1732-1734)gtC>gtT	p.V578V	IKZF4_uc010sqa.1_Silent_p.V531V|IKZF4_uc001sjc.1_Silent_p.V578V|IKZF4_uc001sjd.1_Silent_p.V476V|IKZF4_uc009zoi.1_Silent_p.V533V|IKZF4_uc001sje.1_Silent_p.V537V	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	578					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCCACATTGTCCGGGGGGAGC	0.552000														276			33		0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50926457	50926457	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:50926457G>A	uc003bll.1	+	3	434	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	MIOX_uc003blm.1_Missense_Mutation_p.R107Q|MIOX_uc003bln.1_Missense_Mutation_p.R107Q	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	107					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGGCATCCGGAAGGCCCAC	0.652000														42			24		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891239	18891239	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:18891239A>T	uc001rdy.3	+	0	195	c.37A>T	c.(37-39)Aga>Tga	p.R13*	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	13					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)				GGACAAGGAAAGAGTAATTCG	0.428000														86			5		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94139701	94139701	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:94139701G>A	uc001ybv.1	+	39	6376	c.6293G>A	c.(6292-6294)cGa>cAa	p.R2098Q	UNC79_uc001ybs.1_Missense_Mutation_p.R2076Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2253						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						CTTTAGGAACGAGATAAATTC	0.368000														36			38		0	0	1	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104054585	104054585	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:104054585C>T	uc003ykz.4	+	2	395	c.150C>T	c.(148-150)gtC>gtT	p.V50V	ATP6V1C1_uc010mbz.3_5'UTR|ATP6V1C1_uc003yla.3_Silent_p.V50V|ATP6V1C1_uc011lhl.2_Intron	NM_001695	NP_001686	P21283	VATC1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.	50					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CGTTGGATGTCTTGGTTGGCT	0.353000														77			40		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45786783	45786783	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr21:45786783C>T	uc010gpt.1	+	3	670	c.570C>T	c.(568-570)ttC>ttT	p.F190F	TRPM2_uc002zet.1_Silent_p.F190F|TRPM2_uc002zeu.1_Silent_p.F190F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F190F|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	190						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGAGCATTTTCCGCAGAGGCC	0.642000														19			13		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583161	82583161	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:82583161C>T	uc003uhx.2	-	4	7397	c.7108G>A	c.(7108-7110)Gaa>Aaa	p.E2370K	PCLO_uc003uhv.2_Missense_Mutation_p.E2370K|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2301	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAGGTTTTTCCTGACCAAAG	0.438000														36			4		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87017853	87017853	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:87017853G>A	uc003dqn.3	-	2	1188	c.824C>T	c.(823-825)cCc>cTc	p.P275L		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTCACACTGGGGAGCAGGAAT	0.562000														31			3		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321333	78321333	+	Silent	SNP	G	A	A	rs147557959		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:78321333G>A	uc002jyh.2	+	29	9488	c.9345G>A	c.(9343-9345)ccG>ccA	p.P3115P	RNF213_uc021uen.1_Silent_p.P3066P	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	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)			ACCAGCAGCCGGAGATTATTT	0.512000														36			64		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234202	18234202	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:18234202T>A	uc001rdq.3	-	5	735	c.541A>T	c.(541-543)Aag>Tag	p.K181*		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	181	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GGACGTCTCTTTTCTTTGAGT	0.388000														40			11		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967693	200967693	+	Silent	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:200967693G>A	uc001gvs.2	-	13	2213	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	KIF21B_uc009wzl.2_Silent_p.F632F|KIF21B_uc001gvr.2_Silent_p.F632F|KIF21B_uc010ppn.2_Silent_p.F632F	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	632					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTCCGCCTGGAAGTTCACCT	0.612000														43			24		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370465	17370465	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:17370465G>A	uc002nfs.1	-	5	958	c.845C>T	c.(844-846)cCc>cTc	p.P282L	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.P218L|USHBP1_uc010eam.1_Missense_Mutation_p.P210L	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	282							PDZ domain binding	p.P282R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGGCTGGTTGGGAAGAGACCC	0.572000														176			29		0	0	1	0	0
LUC7L2	51631	broad.mit.edu	37	7	139092010	139092010	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:139092010G>T	uc011kqt.2	+	6	1033	c.799G>T	c.(799-801)Gat>Tat	p.D267Y	LUC7L2_uc011kqs.2_Missense_Mutation_p.D198Y|LUC7L2_uc003vuy.3_Missense_Mutation_p.D200Y|LUC7L2_uc003vux.3_Missense_Mutation_p.D201Y|LUC7L2_uc003vuz.1_Missense_Mutation_p.D148Y|LUC7L2_uc003vva.3_Missense_Mutation_p.D148Y	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	201	Arg/Ser-rich.						enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					AGGACTTCATGATAATGACAG	0.393000														62			12		6.40141e-05	6.50143e-05	1	1	0
HLA-DOA	3111	broad.mit.edu	37	6	32974972	32974972	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:32974972G>A	uc003ocr.3	-	3	710	c.634C>T	c.(634-636)Cca>Tca	p.P212S	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	212	Connecting peptide.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCATCTGGTGGTGGAATAGGC	0.572000														110			59		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526002	176526002	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:176526002G>A	uc001gkz.3	+	1	1708	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	PAPPA2_uc001gky.1_Missense_Mutation_p.E182K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	182					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E182K(3)|p.E182*(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACCCTGAACGAACCCAAACC	0.587000														123			37		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	597758	597758	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:597758C>G	uc002chi.3	+	3	1283	c.920C>G	c.(919-921)aCc>aGc	p.T307S	SOLH_uc002chh.1_Missense_Mutation_p.T307S	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	307					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				GAGGGTGGCACCAGCCGCGTA	0.706000														20			6		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207422	58207422	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:58207422T>C	uc001vhq.1	+	0	1634	c.742T>C	c.(742-744)Tac>Cac	p.Y248H	PCDH17_uc010aec.1_Missense_Mutation_p.Y248H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	248	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGCGCCATCCTACTTGGTGGA	0.597000														54			8		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872200	213872200	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:213872200G>A	uc002vem.3	-	7	1634	c.1465C>T	c.(1465-1467)Cac>Tac	p.H489Y	IKZF2_uc010fuu.3_Missense_Mutation_p.H344Y|IKZF2_uc002vej.3_Missense_Mutation_p.H436Y|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.H415Y|IKZF2_uc002vel.3_Missense_Mutation_p.H410Y|IKZF2_uc010fuw.3_Missense_Mutation_p.H263Y|IKZF2_uc010fux.3_Missense_Mutation_p.H263Y|IKZF2_uc010fuy.3_Missense_Mutation_p.H417Y|IKZF2_uc002ven.3_Missense_Mutation_p.H463Y|IKZF2_uc002vei.3_Missense_Mutation_p.H267Y	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAACCCATGTGAATGGTGTAC	0.498000														123			38		0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1502836	1502836	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:1502836C>T	uc002clv.2	-	14	1383	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	CLCN7_uc002clw.2_Missense_Mutation_p.A401T	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	425						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAACTGTGGCCGTGACGGCG	0.677000														9			4		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448478	155448478	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:155448478G>A	uc009wqq.3	-	2	4663	c.4183C>T	c.(4183-4185)Ccc>Tcc	p.P1395S	ASH1L_uc001fkt.3_Missense_Mutation_p.P1395S|ASH1L_uc009wqr.1_Missense_Mutation_p.P1395S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1395	Pro-rich.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATCCTATGGGAGCAGCTGTA	0.453000														68			18		0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201980309	201980309	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:201980309C>T	uc001gxg.4	+	0	3237	c.45C>T	c.(43-45)ttC>ttT	p.F15F	ELF3_uc001gxi.4_Silent_p.F15F|ELF3_uc001gxh.4_Silent_p.F15F	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	15					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCAACTACTTCAGTGCGATGT	0.577000														108			42		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70602452	70602452	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:70602452C>T	uc004dzu.4	+	9	1652	c.1601C>T	c.(1600-1602)tCt>tTt	p.S534F	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S555F	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	534					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAGGAATCATCTCTGAAGAAG	0.433000														35			15		0	0	1	0	0
BAG4	9530	broad.mit.edu	37	8	38065264	38065264	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:38065264C>T	uc003xky.2	+	2	895	c.613C>T	c.(613-615)Cca>Tca	p.P205S	BAG4_uc003xkz.2_Missense_Mutation_p.P169S	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	205					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	p.P205S(2)		breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGGGCAGGTTCCAGGATATCC	0.478000														41			9		0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4461724	4461724	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:4461724C>T	uc010vsc.2	-	3	1146	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	GGT6_uc010vsb.2_Silent_p.V208V|GGT6_uc002fyd.4_Silent_p.V356V|GGT6_uc002fyc.4_Silent_p.V324V	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	356					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CGCTGCTGTCCACGGCGGCCA	0.667000														26			16		0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139740250	139740250	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:139740250C>T	uc011meh.2	+	0	1384	c.1384C>T	c.(1384-1386)Ccg>Tcg	p.P462S		NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	462										endometrium(2)|large_intestine(1)|lung(6)	9						CCGAGAAGACCCGTTGGGCCG	0.761000														12			6		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107688540	107688540	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:107688540C>T	uc010ljo.1	-	27	4223	c.4139G>A	c.(4138-4140)gGa>gAa	p.G1380E	LAMB4_uc003vey.2_Missense_Mutation_p.G1380E|LAMB4_uc010ljp.1_Missense_Mutation_p.G349E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1380	Domain alpha.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGGCACATTTCCTGGATCTCC	0.502000														113			36		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123239527	123239527	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:123239527C>T	uc021pzz.1	-	17	2957	c.2310G>A	c.(2308-2310)ttG>ttA	p.L770L	FGFR2_uc021pzv.1_Silent_p.L658L|FGFR2_uc021pzw.1_Silent_p.L655L|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Silent_p.L771L|FGFR2_uc010qtl.2_Silent_p.L654L|FGFR2_uc010qtm.2_Silent_p.L653L|FGFR2_uc001lfg.4_Silent_p.L378L|FGFR2_uc001lfk.1_Non-coding_Transcript	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	770	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.L770V(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGCTGAGGTCCAAGTATTCCT	0.448000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					102			22		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6212510	6212510	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:6212510A>T	uc001amb.2	-	5	943	c.832T>A	c.(832-834)Ttc>Atc	p.F278I		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	278	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCCCCCCGAAGCGGAACTTG	0.537000														35			4		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108624964	108624964	+	Silent	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:108624964A>G	uc002tdv.3	+	7	1215	c.939A>G	c.(937-939)acA>acG	p.T313T	SLC5A7_uc010ywm.2_Silent_p.T66T|SLC5A7_uc010fjj.3_Silent_p.T313T|SLC5A7_uc010ywn.2_Silent_p.T200T	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	313					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCAAGACTACAGAAGAGGCAG	0.418000														29			4		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29611308	29611308	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:29611308C>T	uc001bru.3	+	13	2374	c.2245C>T	c.(2245-2247)Ctg>Ttg	p.L749L	PTPRU_uc009vtq.3_Silent_p.L749L|PTPRU_uc009vtr.3_Silent_p.L749L|PTPRU_uc001brw.3_Silent_p.L749L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	749					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGGGCTTATCCTGGGCATCTG	0.597000														66			13		0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014634	114014634	+	Missense_Mutation	SNP	G	A	A	rs146935299	by1000genomes	TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:114014634G>A	uc003ebg.2	+	1	1059	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	102	Ig-like V-type.				negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	p.D102N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GACCGTGAACGATACAGGGGA	0.567000														59			24		0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18905833	18905833	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:18905833G>A	uc002zok.4	-	11	1627	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	PRODH_uc002zoj.4_Missense_Mutation_p.H365Y|PRODH_uc002zol.4_Missense_Mutation_p.H367Y	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	475					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCGCACCTGTGGTACATGGCG	0.642000														87			7		0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111981074	111981074	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:111981074C>T	uc003vge.2	+	10	1286	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	ZNF277_uc003vgf.2_Missense_Mutation_p.P308L	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	386						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TCGCTGCTCCCCGATAGAAAG	0.403000														77			14		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935942	94935942	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:94935942A>G	uc001ydf.3	-	1	451	c.290T>C	c.(289-291)cTg>cCg	p.L97P	SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Missense_Mutation_p.L61P|SERPINA9_uc001ydh.1_Missense_Mutation_p.L97P|SERPINA9_uc001ydi.1_Missense_Mutation_p.L61P	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	79					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GAGCATGGCCAGGGAAGTGGA	0.582000														49			9		0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659242	77659242	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:77659242G>A	uc010xfl.2	+	1	827	c.827G>A	c.(826-828)gGg>gAg	p.G276E		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	276					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCCCGGGCGGGACCAAGCTC	0.711000														31			5		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138421106	138421106	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:138421106G>A	uc002tva.1	+	24	4522	c.4522G>A	c.(4522-4524)Gat>Aat	p.D1508N	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAAAATACATGATATTTTTAA	0.363000														16			13		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167135	140167135	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140167135C>T	uc003lhb.2	+	0	1260	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V	PCDHAC2_uc003lha.2_Silent_p.V420V|PCDHAC2_uc003lgz.3_Silent_p.V420V	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	434	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGTCGGTCTATGAGCTGG	0.637000														140			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485339	179485339	+	Silent	SNP	C	T	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179485339C>T	uc021vsy.1	-	196	38430	c.38205G>A	c.(38203-38205)agG>agA	p.R12735R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.R6430R|TTN_uc021vta.1_Silent_p.R6363R|TTN_uc021vtb.1_Silent_p.R6238R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13662							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCAACAATCCTAAGGTCTT	0.318000														36			6		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757930	242757953	+	In_Frame_Del	DEL	GCAGCCTCGGGGGGATGGCCCCAG	-	-			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:242757930_242757953delGCAGCCTCGGGGGGATGGCCCCAG	uc002wcp.2	+	3	1544_1567	c.1050_1073delGCAGCCTCGGGGGGATGGCCCCAG	c.(1048-1074)ctgcagcctcggggggatggccccagg>ctg	p.QPRGDGPR351del	NEU4_uc010fzr.3_In_Frame_Del_p.QPRGDGPR338del|NEU4_uc002wcm.3_In_Frame_Del_p.QPRGDGPR338del|NEU4_uc002wco.2_In_Frame_Del_p.QPRGDGPR338del|NEU4_uc002wcn.2_In_Frame_Del_p.QPRGDGPR350del	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	338	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TCAGCCGTCTGCAGCCTCGGGGGGATGGCCCCAGGCAGCCTGGC	0.714													---	27	---	---	11	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	Splice_Site	INS	-	T	T	rs33924686	by1000genomes	TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:102738795_102738796insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													---	3	---	---	3	---					
PPAP2C	8612	broad.mit.edu	37	19	290980	290981	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:290980_290981delGC	uc002loh.3	-	0	189_190	c.86_87delGC	c.(85-87)cgcfs	p.R29fs	PPAP2C_uc002loi.3_Intron|PPAP2C_uc002loj.3_Intron	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	0					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGATGGAGGCGCGCGCGCGG	0.807													---	4	---	---	2	---					
