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
VPS13D	55187	broad.mit.edu	37	1	12395817	12395817	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:12395817G>T	uc001atv.2	+	39	8625	c.8484G>T	c.(8482-8484)AAG>AAT	p.K2828N	VPS13D_uc001atw.2_Missense_Mutation_p.K2828N|VPS13D_uc001atx.2_Missense_Mutation_p.K2016N|VPS13D_uc001aty.1_Missense_Mutation_p.K566N	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2828					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGATGACAAGGACATAGAGT	0.393000												
ALDH4A1	8659	broad.mit.edu	37	1	19208375	19208375	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:19208375C>T	uc001bbb.2	-	8	961	c.685G>A	c.(685-687)GTG>ATG	p.V229M	ALDH4A1_uc010ocu.1_Missense_Mutation_p.V169M|ALDH4A1_uc001bbc.2_Missense_Mutation_p.V229M	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 isoform a precursor	229					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CATAGGACCACGTTGCCCTGC	0.617000												
EPHB2	2048	broad.mit.edu	37	1	23237000	23237000	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:23237000T>G	uc009vqj.1	+	14	2773	c.2628T>G	c.(2626-2628)ATT>ATG	p.I876M	EPHB2_uc001bge.2_Missense_Mutation_p.I877M|EPHB2_uc001bgf.2_Missense_Mutation_p.I876M|EPHB2_uc010odu.1_Missense_Mutation_p.I818M	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	876	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCGGCCAAATTGTCAACACGC	0.632000									Hereditary_Prostate_Cancer			
FAM159A	348378	broad.mit.edu	37	1	53108542	53108542	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:53108542G>A	uc001cuf.2	+	2	290	c.190G>A	c.(190-192)GCT>ACT	p.A64T	FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	64	Helical; (Potential).					integral to membrane					0						CAGCATTGGCGCTCTCATAGG	0.512000												
HSD3B1	3283	broad.mit.edu	37	1	120050104	120050104	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:120050104C>T	uc001ehv.1	+	2	150	c.5C>T	c.(4-6)ACG>ATG	p.T2M	HSD3B1_uc001ehw.2_Missense_Mutation_p.T4M	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	2					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATGGCCATGACGGGCTGGAGC	0.542000												
NPR1	4881	broad.mit.edu	37	1	153661563	153661563	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:153661563A>G	uc001fcs.3	+	16	2973	c.2552A>G	c.(2551-2553)CAG>CGG	p.Q851R	NPR1_uc010pdz.1_Missense_Mutation_p.Q597R|NPR1_uc010pea.1_Missense_Mutation_p.Q329R	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	851	Cytoplasmic (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGCTCTACCAGATCCTGCCT	0.627000												
FCRLA	84824	broad.mit.edu	37	1	161680576	161680576	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:161680576G>A	uc001gbe.2	+	3	417	c.175G>A	c.(175-177)GAG>AAG	p.E59K	FCRLA_uc001gbd.2_Missense_Mutation_p.E53K|FCRLA_uc001gbf.2_Missense_Mutation_p.E53K|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Missense_Mutation_p.E53K|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	36					cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GCTGCAGTGTGAGGGACCTGT	0.542000												
C1orf112	55732	broad.mit.edu	37	1	169816931	169816931	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:169816931C>T	uc001ggp.2	+	21	2355	c.2045C>T	c.(2044-2046)CCT>CTT	p.P682L	C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.P682L|C1orf112_uc009wvt.2_Missense_Mutation_p.P359L|C1orf112_uc009wvu.1_Missense_Mutation_p.P558L|C1orf112_uc001ggr.2_Missense_Mutation_p.P547L|C1orf112_uc010plv.1_Missense_Mutation_p.P624L	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	682											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTTTTATACCTGAAGCTATC	0.328000												
FMN2	56776	broad.mit.edu	37	1	240370099	240370099	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:240370099G>A	uc010pyd.1	+	5	2212	c.1987G>A	c.(1987-1989)GAA>AAA	p.E663K	FMN2_uc010pye.1_Missense_Mutation_p.E667K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	663					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCCTTCAGGAAGTTGTTGA	0.393000												
AHCTF1	25909	broad.mit.edu	37	1	247024375	247024375	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:247024375C>T	uc001ibu.1	-	28	3965	c.3958G>A	c.(3958-3960)GAG>AAG	p.E1320K	AHCTF1_uc001ibv.1_Missense_Mutation_p.E1329K|AHCTF1_uc009xgs.1_Missense_Mutation_p.E181K|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1320	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCCTGATACTCTAAGGTAGTC	0.453000												
OR6F1	343169	broad.mit.edu	37	1	247875864	247875864	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:247875864T>G	uc001idj.1	-	1	194	c.194A>C	c.(193-195)AAC>ACC	p.N65T		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAAGGAGAGGTTGCTCAGAAA	0.483000												
GTPBP4	23560	broad.mit.edu	37	10	1058414	1058414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:1058414G>T	uc001ift.2	+	14	1425	c.1354G>T	c.(1354-1356)GAA>TAA	p.E452*	GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Nonsense_Mutation_p.E336*|GTPBP4_uc010qae.1_Nonsense_Mutation_p.E405*	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	452					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GAAATTGGAAGAATTAGAAAA	0.408000												
ADARB2	105	broad.mit.edu	37	10	1405937	1405937	+	Silent	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:1405937C>T	uc009xhq.2	-	3	737	c.363G>A	c.(361-363)TCG>TCA	p.S121S		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	121					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCACCGACCACGACAGCTTCT	0.587000												
PARD3	56288	broad.mit.edu	37	10	34671584	34671584	+	Missense_Mutation	SNP	G	G	A	rs141769427		TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:34671584G>A	uc010qej.1	-	9	1283	c.1283C>T	c.(1282-1284)TCG>TTG	p.S428L	PARD3_uc010qek.1_Missense_Mutation_p.S428L|PARD3_uc010qel.1_Missense_Mutation_p.S428L|PARD3_uc010qem.1_Missense_Mutation_p.S428L|PARD3_uc010qen.1_Missense_Mutation_p.S428L|PARD3_uc010qeo.1_Missense_Mutation_p.S428L|PARD3_uc010qep.1_Missense_Mutation_p.S384L|PARD3_uc010qeq.1_Missense_Mutation_p.S384L|PARD3_uc001ixo.1_Missense_Mutation_p.S158L|PARD3_uc001ixp.1_Missense_Mutation_p.S293L|PARD3_uc001ixq.1_Missense_Mutation_p.S428L|PARD3_uc001ixr.1_Missense_Mutation_p.S428L|PARD3_uc001ixt.1_Missense_Mutation_p.S249L|PARD3_uc001ixu.1_Missense_Mutation_p.S384L|PARD3_uc001ixs.1_Missense_Mutation_p.S81L	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	428					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				TGGTTTTCCCGAGGGGTGTGC	0.517000												
PTEN	5728	broad.mit.edu	37	10	89653801	89653801	+	Silent	SNP	T	T	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:89653801T>C	uc001kfb.2	+	3	1130	c.99T>C	c.(97-99)ATT>ATC	p.I33I		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	33	Phosphatase tensin-type.		Missing (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(4)|p.Y27fs*1(2)|p.I33fs*21(2)|p.Y27_N212>Y(2)|p.I33del(1)|p.A34_G36del(1)|p.I33fs*20(1)|p.I33S(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAACATTATTGCTATGGGAT	0.294000		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
SORBS1	10580	broad.mit.edu	37	10	97174384	97174384	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:97174384C>T	uc001kkp.2	-	7	722	c.677G>A	c.(676-678)CGC>CAC	p.R226H	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.R226H|SORBS1_uc001kkq.2_Missense_Mutation_p.R157H|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.R194H|SORBS1_uc001kkw.2_Missense_Mutation_p.R226H|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.R424H|SORBS1_uc001kkx.1_Missense_Mutation_p.R194H	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	226				RAS -> SAC (in Ref. 3; AAF22175).	focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCCAGAGGCGCGGGCTGGCTG	0.652000												
LZTS2	84445	broad.mit.edu	37	10	102765299	102765299	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:102765299C>T	uc001ksj.2	+	4	1222	c.1153C>T	c.(1153-1155)CGG>TGG	p.R385W	LZTS2_uc010qpw.1_Missense_Mutation_p.R385W|LZTS2_uc001ksk.2_Missense_Mutation_p.R385W|LZTS2_uc001ksl.2_Missense_Mutation_p.R385W|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	385	Potential.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCGGGCACAGCGGGCCCAACA	0.667000												
OR51B4	79339	broad.mit.edu	37	11	5322906	5322906	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:5322906C>A	uc010qza.1	-	1	271	c.271G>T	c.(271-273)GCC>TCC	p.A91S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCATGGGCAATCTCCCTC	0.502000												
OR52N4	390072	broad.mit.edu	37	11	5776554	5776554	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:5776554A>C	uc001mbu.2	+	1	632	c.584A>C	c.(583-585)AAG>ACG	p.K195T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGTAATGTCAAGGTCAATGCC	0.488000												
LUZP2	338645	broad.mit.edu	37	11	24750779	24750779	+	Missense_Mutation	SNP	C	C	T	rs150458536		TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:24750779C>T	uc001mqs.2	+	2	361	c.127C>T	c.(127-129)CGT>TGT	p.R43C	LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Missense_Mutation_p.R43C	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	43	Potential.					extracellular region		p.R43C(1)		ovary(1)|skin(1)	2						CACCATTCTTCGTCAGCTGAC	0.433000												
OR5I1	10798	broad.mit.edu	37	11	55703769	55703769	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:55703769C>A	uc010ris.1	-	1	108	c.108G>T	c.(106-108)TTG>TTT	p.L36F		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTATAGCATACAATGTCAGAA	0.393000												
OR5I1	10798	broad.mit.edu	37	11	55703771	55703771	+	Missense_Mutation	SNP	A	A	T	rs111994551	byFrequency	TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:55703771A>T	uc010ris.1	-	1	106	c.106T>A	c.(106-108)TTG>ATG	p.L36M		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATAGCATACAATGTCAGAAAC	0.393000												
AHNAK	79026	broad.mit.edu	37	11	62298626	62298626	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:62298626G>C	uc001ntl.2	-	5	3563	c.3263C>G	c.(3262-3264)TCT>TGT	p.S1088C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1088					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTTTGGTGCAGAGATATCTAC	0.453000												
CHRM1	1128	broad.mit.edu	37	11	62677615	62677615	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:62677615G>A	uc001nwi.2	-	2	1359	c.958C>T	c.(958-960)CGG>TGG	p.R320W		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	320	Cytoplasmic (Potential).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding				0					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	GGGGAGCTCCGTGGGGGCTGC	0.622000												
TSKU	25987	broad.mit.edu	37	11	76507252	76507252	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:76507252G>A	uc001oxt.2	+	2	764	c.592G>A	c.(592-594)GCC>ACC	p.A198T		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	198	LRR 6.					extracellular region					0	Ovarian(111;0.112)					CCGGCTCCATGCCGTGCCCAA	0.677000												
TYR	7299	broad.mit.edu	37	11	88911920	88911920	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:88911920T>A	uc001pcs.2	+	1	881	c.799T>A	c.(799-801)TCA>ACA	p.S267T		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	267	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CAGCCCAGCATCATTCTTCTC	0.458000									Oculocutaneous_Albinism			
NOX4	50507	broad.mit.edu	37	11	89224395	89224395	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:89224395C>G	uc001pct.2	-	1	259	c.20G>C	c.(19-21)AGC>ACC	p.S7T	NOX4_uc009yvr.2_5'Flank|NOX4_uc001pcu.2_5'UTR|NOX4_uc001pcw.2_Missense_Mutation_p.S7T|NOX4_uc001pcx.2_Missense_Mutation_p.S7T|NOX4_uc001pcv.2_Missense_Mutation_p.S7T|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_5'UTR|NOX4_uc009yvp.2_Missense_Mutation_p.S7T|NOX4_uc010rtv.1_Intron|NOX4_uc009yvq.2_Intron|NOX4_uc009yvs.1_RNA|NOX4_uc001pcy.2_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	7	Cytoplasmic (Potential).				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGCGAGCCAGCTCCTCCAGGA	0.652000												
UBE4A	9354	broad.mit.edu	37	11	118239372	118239372	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:118239372T>G	uc001psw.2	+	3	277	c.148T>G	c.(148-150)TCG>GCG	p.S50A	UBE4A_uc001psv.2_Missense_Mutation_p.S50A	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	50					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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)		CCCAGATGACTCGGATAATAG	0.428000												
SORL1	6653	broad.mit.edu	37	11	121420786	121420786	+	Silent	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:121420786G>A	uc001pxx.2	+	15	2249	c.2169G>A	c.(2167-2169)AGG>AGA	p.R723R		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	723	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTACTTACAGGAGAACGAGAG	0.507000												
OR8G2	26492	broad.mit.edu	37	11	124095819	124095819	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:124095819G>T	uc010saf.1	+	1	422	c.422G>T	c.(421-423)AGC>ATC	p.S141I		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	141						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCCATCTGCAGCCCCTTGCTG	0.468000												
KCNA5	3741	broad.mit.edu	37	12	5154190	5154190	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:5154190G>A	uc001qni.2	+	1	1106	c.877G>A	c.(877-879)GCG>ACG	p.A293T		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	293						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CCAGCCTCCCGCGCCCGCCCC	0.687000												
CLEC4E	26253	broad.mit.edu	37	12	8688703	8688703	+	Silent	SNP	A	A	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:8688703A>T	uc001quo.1	-	5	636	c.471T>A	c.(469-471)CCT>CCA	p.P157P		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	157	C-type lectin.|Extracellular (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)					ACTTTGTCAAAGGTGTGCCGT	0.443000												
PRB4	5545	broad.mit.edu	37	12	11461181	11461181	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:11461181G>T	uc001qzf.1	-	3	770	c.736C>A	c.(736-738)CCC>ACC	p.P246T	PRB4_uc001qzt.2_Missense_Mutation_p.P246T	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	309						extracellular region				ovary(1)	1						GATTACTGGGGAGGCTGTTGT	0.473000										HNSCC(22;0.051)		
SLCO1C1	53919	broad.mit.edu	37	12	20874876	20874876	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:20874876G>A	uc001rej.3	+	9	1269	c.914G>A	c.(913-915)AGA>AAA	p.R305K	SLCO1C1_uc010sii.1_Missense_Mutation_p.R305K|SLCO1C1_uc010sij.1_Missense_Mutation_p.R256K|SLCO1C1_uc009zip.2_Missense_Mutation_p.R139K|SLCO1C1_uc001rei.2_Missense_Mutation_p.R305K|SLCO1C1_uc010sik.1_Missense_Mutation_p.R187K	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	305	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					TCCCAAAGTAGAGAGGATTCT	0.403000												
PDZRN4	29951	broad.mit.edu	37	12	41966380	41966380	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:41966380T>G	uc010skn.1	+	10	1270	c.1202T>G	c.(1201-1203)CTT>CGT	p.L401R	PDZRN4_uc001rmq.3_Missense_Mutation_p.L342R|PDZRN4_uc009zjz.2_Missense_Mutation_p.L340R|PDZRN4_uc001rmr.2_Missense_Mutation_p.L227R	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	600							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGTGTTGAACTTCAGTACAAT	0.507000												
IRAK3	11213	broad.mit.edu	37	12	66605310	66605311	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:66605310_66605311GA>TT	uc001sth.2	+	5	623_624	c.521_522GA>TT	c.(520-522)GGA>GTT	p.G174V	IRAK3_uc010ssy.1_Missense_Mutation_p.G113V	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	174	ATP (By similarity).|Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		ATTGGAGAAGGAGAGATTTTTG	0.342000												
NAV3	89795	broad.mit.edu	37	12	78582033	78582033	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:78582033A>C	uc001syp.2	+	32	5969	c.5796A>C	c.(5794-5796)CAA>CAC	p.Q1932H	NAV3_uc001syo.2_Missense_Mutation_p.Q1910H|NAV3_uc010sub.1_Missense_Mutation_p.Q1389H|NAV3_uc009zsf.2_Missense_Mutation_p.Q741H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1932						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTTAGGACCAAAAATCTCAGG	0.308000										HNSCC(70;0.22)		
SART3	9733	broad.mit.edu	37	12	108920075	108920075	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:108920075G>C	uc001tmz.1	-	16	2406	c.2171C>G	c.(2170-2172)CCA>CGA	p.P724R	SART3_uc001tmy.1_Missense_Mutation_p.P250R|SART3_uc009zux.1_Missense_Mutation_p.P336R|SART3_uc010swx.1_Missense_Mutation_p.P688R|SART3_uc010swy.1_Missense_Mutation_p.P610R|SART3_uc010swz.1_Silent_p.A722A	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	724	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CTCGAAGAGTGGCCTGAGCTT	0.567000									Porokeratosis			
USP30	84749	broad.mit.edu	37	12	109523552	109523552	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:109523552G>A	uc010sxi.1	+	13	1474	c.1370G>A	c.(1369-1371)CGA>CAA	p.R457Q	USP30_uc001tnu.3_Missense_Mutation_p.R426Q|USP30_uc001tnw.3_Missense_Mutation_p.R174Q	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	457	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						GTCACTTACCGACGGTCCCCA	0.562000												
FZD10	11211	broad.mit.edu	37	12	130648388	130648388	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:130648388C>A	uc001uii.2	+	1	1357	c.901C>A	c.(901-903)CAG>AAG	p.Q301K	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	301	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTATGTCATCCAGGAGGGACT	0.647000												
ZC3H13	23091	broad.mit.edu	37	13	46616346	46616346	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr13:46616346T>C	uc010tfw.1	-	3	298	c.292A>G	c.(292-294)ACT>GCT	p.T98A	ZC3H13_uc001vas.1_Missense_Mutation_p.T98A|ZC3H13_uc001vat.1_Missense_Mutation_p.T98A	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	98							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGGGGCTCAGTGTCCACGTCT	0.368000												
WDFY2	115825	broad.mit.edu	37	13	52330495	52330495	+	Missense_Mutation	SNP	G	G	A	rs140912157		TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr13:52330495G>A	uc001vfp.2	+	10	1301	c.961G>A	c.(961-963)GTC>ATC	p.V321I		NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	321	FYVE-type.						metal ion binding				0		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TGGGAAGGCCGTCTGTGGCAA	0.597000												
GPC6	10082	broad.mit.edu	37	13	93879869	93879869	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr13:93879869G>A	uc001vlt.2	+	1	792	c.160G>A	c.(160-162)GGG>AGG	p.G54R	GPC6_uc010tig.1_Missense_Mutation_p.G54R	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	54						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GGAGATCGCAGGTAAGCGCGG	0.711000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR4K1	79544	broad.mit.edu	37	14	20404608	20404608	+	Silent	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:20404608T>G	uc001vwj.1	+	1	783	c.783T>G	c.(781-783)CCT>CCG	p.P261P		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATATATGGCCTTTTAGCAGAC	0.423000												
ARID4A	5926	broad.mit.edu	37	14	58820474	58820474	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:58820474G>A	uc001xdp.2	+	17	2008	c.1754G>A	c.(1753-1755)CGA>CAA	p.R585Q	ARID4A_uc001xdo.2_Missense_Mutation_p.R585Q|ARID4A_uc001xdq.2_Missense_Mutation_p.R585Q|ARID4A_uc010apg.1_Missense_Mutation_p.R263Q	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	585					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						AAATATGGACGAGGGAAGACT	0.393000												
SIPA1L1	26037	broad.mit.edu	37	14	72139213	72139213	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:72139213G>A	uc001xms.2	+	9	3326	c.2978G>A	c.(2977-2979)CGC>CAC	p.R993H	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R993H|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R993H|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R993H|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R468H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	993	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGGGCAGTCGCCTGGTGGAG	0.582000												
SERPINA3	12	broad.mit.edu	37	14	95081025	95081025	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:95081025G>A	uc001ydp.2	+	2	326	c.247G>A	c.(247-249)GCC>ACC	p.A83T	SERPINA3_uc001ydo.3_Missense_Mutation_p.A108T|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.A83T|SERPINA3_uc001yds.2_Missense_Mutation_p.A83T|SERPINA3_uc010avg.2_Missense_Mutation_p.A83T	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	83					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CATCTCCACCGCCTTGGCCTT	0.532000												
AHNAK2	113146	broad.mit.edu	37	14	105405265	105405265	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:105405265G>C	uc010axc.1	-	7	16643	c.16523C>G	c.(16522-16524)ACG>AGG	p.T5508R	AHNAK2_uc001ypx.2_Missense_Mutation_p.T5408R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5508						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AATCTCTGACGTGGGGATCTC	0.458000												
AHNAK2	113146	broad.mit.edu	37	14	105410061	105410061	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:105410061C>A	uc010axc.1	-	7	11847	c.11727G>T	c.(11725-11727)AAG>AAT	p.K3909N	AHNAK2_uc001ypx.2_Missense_Mutation_p.K3809N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3909						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTTGGGGCCCTTGATGTCTA	0.597000												
FBN1	2200	broad.mit.edu	37	15	48748847	48748847	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr15:48748847C>A	uc001zwx.1	-	44	5737	c.5409G>T	c.(5407-5409)TTG>TTT	p.L1803F	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1803	EGF-like 29; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACAAACCAACAACTTGTCAT	0.433000												
FBN1	2200	broad.mit.edu	37	15	48773939	48773939	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr15:48773939T>G	uc001zwx.1	-	32	4205	c.3877A>C	c.(3877-3879)AGT>CGT	p.S1293R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1293	EGF-like 21; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGTCCCACTTAGGCAGATA	0.388000												
PDE8A	5151	broad.mit.edu	37	15	85681096	85681096	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr15:85681096G>A	uc002blh.2	+	22	2641	c.2452G>A	c.(2452-2454)GAA>AAA	p.E818K	PDE8A_uc002bli.2_Missense_Mutation_p.E772K|PDE8A_uc010bnc.2_Missense_Mutation_p.E571K|PDE8A_uc010bnd.2_Missense_Mutation_p.E571K|PDE8A_uc002blj.2_Missense_Mutation_p.E438K|PDE8A_uc002blk.2_Missense_Mutation_p.E438K|PDE8A_uc002bll.2_Missense_Mutation_p.E170K	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	818					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			AGGACTGGACGAAATGAAGCT	0.473000												
ZNF263	10127	broad.mit.edu	37	16	3338488	3338488	+	Silent	SNP	C	C	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr16:3338488C>G	uc002cuq.2	+	5	1136	c.804C>G	c.(802-804)ACC>ACG	p.T268T	ZNF263_uc010uww.1_Intron|ZNF263_uc002cur.2_5'Flank	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	268	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						TCCCAGGCACCCAGGTGGGAC	0.542000												
SPNS2	124976	broad.mit.edu	37	17	4439624	4439624	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:4439624G>A	uc002fxx.2	+	11	1724	c.1510G>A	c.(1510-1512)GCG>ACG	p.A504T	SPNS2_uc002fxy.2_5'Flank	NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	504					lipid transport|transmembrane transport	integral to membrane					0						CCTGGGCTACGCGCTCATGCT	0.632000												
NF1	4763	broad.mit.edu	37	17	29550553	29550553	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:29550553A>T	uc002hgg.2	+	16	2146	c.1813A>T	c.(1813-1815)ATC>TTC	p.I605F	NF1_uc002hgh.2_Missense_Mutation_p.I605F|NF1_uc010csn.1_Missense_Mutation_p.I465F|NF1_uc002hgi.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	605					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGAAATATTGATCTGCAGGAA	0.313000			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
EVI2B	2124	broad.mit.edu	37	17	29632425	29632425	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:29632425C>T	uc002hgk.2	-	2	358	c.203G>A	c.(202-204)GGA>GAA	p.G68E	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.G83E	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	68	Extracellular (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TATTGATTGTCCAGAAAAAGT	0.428000												
EVI2B	2124	broad.mit.edu	37	17	29632469	29632469	+	Silent	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:29632469C>T	uc002hgk.2	-	2	314	c.159G>A	c.(157-159)GGG>GGA	p.G53G	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Silent_p.G68G	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	53	Extracellular (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		CCAAAGGATTCCCTGTTGTGT	0.418000												
EVI2B	2124	broad.mit.edu	37	17	29632543	29632543	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:29632543C>T	uc002hgk.2	-	2	240	c.85G>A	c.(85-87)GAG>AAG	p.E29K	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.E44K	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	29	Extracellular (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GACTGCTTCTCTGTTGTAATT	0.358000												
SLFN11	91607	broad.mit.edu	37	17	33690427	33690427	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:33690427G>A	uc010ctp.2	-	4	842	c.400C>T	c.(400-402)CGT>TGT	p.R134C	SLFN11_uc010ctq.2_Missense_Mutation_p.R134C|SLFN11_uc002hjh.3_Missense_Mutation_p.R134C|SLFN11_uc002hjg.3_Missense_Mutation_p.R134C|SLFN11_uc010ctr.2_Missense_Mutation_p.R134C	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	134						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAGATCTACGGTATAATGAA	0.453000												
C17orf53	78995	broad.mit.edu	37	17	42226115	42226115	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:42226115C>A	uc002ifi.1	+	3	1129	c.944C>A	c.(943-945)CCC>CAC	p.P315H	C17orf53_uc010czq.1_Missense_Mutation_p.P315H|C17orf53_uc002ifj.1_Missense_Mutation_p.P315H|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	315											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTCATTTACCCAGACCTCGA	0.502000												
NFE2L1	4779	broad.mit.edu	37	17	46128984	46128984	+	Silent	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:46128984C>T	uc002imz.3	+	2	1155	c.504C>T	c.(502-504)ACC>ACT	p.T168T	NFE2L1_uc002ina.3_Silent_p.T168T|NFE2L1_uc002inb.3_Silent_p.T168T|NFE2L1_uc002inc.1_Silent_p.T168T	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	168	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						GAGACTTAACCAAAGAGGTTA	0.587000												
USH1G	124590	broad.mit.edu	37	17	72916295	72916295	+	Silent	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:72916295G>A	uc002jme.1	-	2	819	c.636C>T	c.(634-636)GGC>GGT	p.G212G	USH1G_uc010wro.1_Silent_p.G109G	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	212					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					TCTTGGTCTTGCCCCTGGCCG	0.692000												
OR2Z1	284383	broad.mit.edu	37	19	8841852	8841852	+	Silent	SNP	C	C	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:8841852C>G	uc010xkg.1	+	1	462	c.462C>G	c.(460-462)CTC>CTG	p.L154L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						TAGGTGTGCTCAACGCCTCCA	0.547000												
OR7G3	390883	broad.mit.edu	37	19	9237253	9237253	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:9237253G>A	uc010xkl.1	-	1	374	c.374C>T	c.(373-375)GCC>GTC	p.A125V		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTGACAGATGGCCACAAATCG	0.478000												
GCDH	2639	broad.mit.edu	37	19	13004403	13004403	+	Silent	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:13004403C>T	uc002mvq.2	+	6	518	c.441C>T	c.(439-441)CTC>CTT	p.L147L	GCDH_uc010xms.1_Silent_p.L114L|GCDH_uc002mvp.2_Silent_p.L147L|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Silent_p.L103L	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	147					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						AGTCCTCCCTCGTCATGCACC	0.632000												
EMR3	84658	broad.mit.edu	37	19	14762009	14762009	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:14762009T>G	uc002mzi.3	-	7	733	c.585A>C	c.(583-585)GAA>GAC	p.E195D	EMR3_uc010dzp.2_Missense_Mutation_p.E143D|EMR3_uc010xnv.1_Missense_Mutation_p.E69D	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	195	Extracellular (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						TCGCTTGAGTTTCAATAGCTG	0.333000												
TM6SF2	53345	broad.mit.edu	37	19	19381866	19381866	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:19381866G>A	uc002nmd.1	-	2	214	c.164C>T	c.(163-165)TCC>TTC	p.S55F	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	55						integral to membrane					0			Epithelial(12;0.0151)			CTCGCCATGGGACAAGCTGTA	0.597000												
NOVA2	4858	broad.mit.edu	37	19	46443906	46443906	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:46443906C>T	uc002pdv.2	-	4	742	c.694G>A	c.(694-696)GCC>ACC	p.A232T		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	232	Ala-rich.					nucleus	RNA binding				0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCGGGGCTGGCGTACGGAGAG	0.731000												
IGFL4	444882	broad.mit.edu	37	19	46543157	46543157	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:46543157A>C	uc002pdy.1	-	4	422	c.368T>G	c.(367-369)CTC>CGC	p.L123R		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4 precursor	123						extracellular region					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGTCTAGATGAGGTCAGATCT	0.423000												
ZNF320	162967	broad.mit.edu	37	19	53367144	53367144	+	RNA	SNP	G	G	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:53367144G>C	uc010eqh.1	-	3		c.533C>G			ZNF320_uc010eqi.1_RNA			A2RRD8	ZN320_HUMAN	Homo sapiens full length insert cDNA clone ZD42C02.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		taacatgctgggcatggtggc	0.134000												
FIZ1	84922	broad.mit.edu	37	19	56104081	56104081	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:56104081C>T	uc002qli.3	-	3	1316	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	FIZ1_uc002qlj.3_Missense_Mutation_p.R409H	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTTCTTGCCGCGGCCGGAGCC	0.721000												
NLRP8	126205	broad.mit.edu	37	19	56465888	56465888	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:56465888C>T	uc002qmh.2	+	3	535	c.464C>T	c.(463-465)TCG>TTG	p.S155L	NLRP8_uc010etg.2_Missense_Mutation_p.S155L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	155						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGGTATAAATCGAATGTGATG	0.418000												
WDR35	57539	broad.mit.edu	37	2	20133220	20133220	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:20133220G>A	uc002rdi.2	-	23	2741	c.2633C>T	c.(2632-2634)GCA>GTA	p.A878V	WDR35_uc002rdj.2_Missense_Mutation_p.A867V|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Intron	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	878										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCAAAAATGCAGTCACTGC	0.383000												
CAPN13	92291	broad.mit.edu	37	2	30985951	30985951	+	Silent	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:30985951C>T	uc002rnn.2	-	7	947	c.771G>A	c.(769-771)GAG>GAA	p.E257E	CAPN13_uc002rnp.1_Silent_p.E257E	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	257	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCCTTACCTGCTCAGCCCCAG	0.547000												
UGGT1	56886	broad.mit.edu	37	2	128918778	128918778	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:128918778A>C	uc002tps.2	+	25	2939	c.2761A>C	c.(2761-2763)ATC>CTC	p.I921L	UGGT1_uc010fme.1_Missense_Mutation_p.I796L|UGGT1_uc002tpr.2_Missense_Mutation_p.I897L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	921					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						CGAAAATATCATCTTAAAAAC	0.418000												
NCKAP5	344148	broad.mit.edu	37	2	133540771	133540771	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:133540771C>T	uc002ttp.2	-	14	3987	c.3613G>A	c.(3613-3615)GAA>AAA	p.E1205K	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1205							protein binding				0						ACATTTCTTTCACCCGCTGTG	0.488000												
PRPF40A	55660	broad.mit.edu	37	2	153573876	153573876	+	Silent	SNP	G	G	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:153573876G>T	uc002tyi.2	-	1	46	c.33C>A	c.(31-33)GGC>GGA	p.G11G	ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Silent_p.G26G|PRPF40A_uc010zcd.1_Silent_p.G26G|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Silent_p.G11G	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	11					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						TCACCATGAGGCCTCCACGCT	0.647000												
SLC4A10	57282	broad.mit.edu	37	2	162751304	162751304	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:162751304G>C	uc002ubx.3	+	11	1494	c.1310G>C	c.(1309-1311)CGA>CCA	p.R437P	SLC4A10_uc010fpa.1_Missense_Mutation_p.R449P|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R407P|SLC4A10_uc010zcs.1_Missense_Mutation_p.R418P	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	437	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						CCAAGCATTCGAATAGAGCCT	0.353000												
PTPRN	5798	broad.mit.edu	37	2	220167050	220167050	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:220167050G>A	uc002vkz.2	-	6	892	c.803C>T	c.(802-804)TCA>TTA	p.S268L	PTPRN_uc010zlc.1_Missense_Mutation_p.S178L|PTPRN_uc002vla.2_Missense_Mutation_p.S268L	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	268	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTGGGCAGGTGAAGGCCCTGG	0.632000												
UGT1A5	54579	broad.mit.edu	37	2	234676494	234676494	+	Splice_Site	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:234676494G>A	uc002vuw.2	+	3	1000	c.1000_splice	c.e3-1	p.V334_splice	UGT1A8_uc010zmv.1_Splice_Site_p.V330_splice|UGT1A8_uc002vup.2_Splice_Site_p.V330_splice|UGT1A10_uc002vuq.3_Splice_Site_p.V330_splice|UGT1A10_uc002vur.2_Splice_Site_p.V330_splice|UGT1A9_uc010zmw.1_Splice_Site_p.V330_splice|UGT1A9_uc002vus.2_Splice_Site_p.V330_splice|UGT1A7_uc010zmx.1_Splice_Site_p.V330_splice|UGT1A7_uc002vut.2_Splice_Site_p.V330_splice|UGT1A6_uc002vuu.2_Splice_Site_p.V65_splice|UGT1A6_uc010zmy.1_Splice_Site_p.V332_splice|UGT1A6_uc002vuv.3_Splice_Site_p.V332_splice|UGT1A5_uc010zmz.1_Splice_Site_p.V334_splice|UGT1A4_uc010zna.1_Splice_Site_p.V334_splice|UGT1A4_uc002vux.2_Splice_Site_p.V334_splice|UGT1A3_uc010znb.1_Splice_Site_p.V334_splice|UGT1A3_uc002vuy.2_Splice_Site_p.V334_splice|UGT1A9_uc002vva.2_Splice_Site|UGT1A1_uc010znc.1_Splice_Site_p.V333_splice|UGT1A1_uc002vvb.2_Splice_Site_p.V333_splice	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5						xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GCCCCTCCCAGGTCCTGTGGC	0.453000												
CXCR7	57007	broad.mit.edu	37	2	237489447	237489447	+	Silent	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:237489447C>T	uc010fyq.2	+	3	569	c.339C>T	c.(337-339)GGC>GGT	p.G113G	CXCR7_uc002vwd.2_Silent_p.G113G	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	113	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GGCCCATGGGCGAGCTCACGT	0.562000												
TGM2	7052	broad.mit.edu	37	20	36767991	36767991	+	Missense_Mutation	SNP	C	C	T	rs41274716		TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr20:36767991C>T	uc002xhr.2	-	9	1265	c.1165G>A	c.(1165-1167)GAT>AAT	p.D389N	TGM2_uc010zvx.1_Missense_Mutation_p.D308N|TGM2_uc010zvy.1_Missense_Mutation_p.D329N|TGM2_uc002xhs.1_Missense_Mutation_p.D365N|TGM2_uc002xht.2_Missense_Mutation_p.D389N	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	389					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AAGGGCGCATCGTACTTGGTG	0.582000												
TSHZ2	128553	broad.mit.edu	37	20	51872284	51872284	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr20:51872284C>A	uc002xwo.2	+	2	3243	c.2287C>A	c.(2287-2289)CAG>AAG	p.Q763K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	763					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GAACAGCGATCAGCCCATTGA	0.542000												
CDH26	60437	broad.mit.edu	37	20	58547035	58547035	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr20:58547035T>C	uc002ybe.2	+	4	550	c.250T>C	c.(250-252)TAT>CAT	p.Y84H	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	84	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TAATATGTCTTATAACATGTC	0.358000												
LAMA5	3911	broad.mit.edu	37	20	60899589	60899589	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr20:60899589G>A	uc002ycq.2	-	42	5618	c.5551C>T	c.(5551-5553)CGG>TGG	p.R1851W		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1851	Laminin EGF-like 16; second part.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGACGTCCCGATAGAAGCCG	0.622000												
DSCAM	1826	broad.mit.edu	37	21	41561117	41561117	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr21:41561117C>A	uc002yyq.1	-	12	2857	c.2405G>T	c.(2404-2406)GGG>GTG	p.G802V	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	802	Ig-like C2-type 9.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTTTTCTGCCCCTGCGTGGC	0.493000												
C22orf31	25770	broad.mit.edu	37	22	29456825	29456825	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr22:29456825T>G	uc003aej.1	-	2	137	c.10A>C	c.(10-12)ATC>CTC	p.I4L		NM_015370	NP_056185	O95567	CV031_HUMAN	hypothetical protein LOC25770	4											0						CTCACATTGATTGGGTGCTAG	0.418000												
C22orf28	51493	broad.mit.edu	37	22	32797882	32797882	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr22:32797882C>T	uc003amm.2	-	5	480	c.349G>A	c.(349-351)GGG>AGG	p.G117R	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	117					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						ATGTCAAACCCGACACCACCT	0.433000												
OXSR1	9943	broad.mit.edu	37	3	38207426	38207426	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:38207426A>C	uc003chy.2	+	1	401	c.59A>C	c.(58-60)CAG>CCG	p.Q20P	OXSR1_uc010hhb.2_5'UTR|OXSR1_uc010hha.1_5'UTR	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	20	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TACGAGCTGCAGGAGGTGATC	0.716000												
SCN10A	6336	broad.mit.edu	37	3	38797307	38797307	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:38797307C>T	uc003ciq.2	-	10	1433	c.1433G>A	c.(1432-1434)CGC>CAC	p.R478H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	478					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGATCAGAGCGGGGTGATTT	0.274000												
CEP97	79598	broad.mit.edu	37	3	101451490	101451490	+	Silent	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:101451490G>A	uc003dvk.1	+	6	747	c.720G>A	c.(718-720)CAG>CAA	p.Q240Q	CEP97_uc010hpm.1_Silent_p.Q206Q|CEP97_uc011bhf.1_Silent_p.Q240Q|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Silent_p.Q78Q	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	240	LRRCT.					centrosome|nucleus	protein binding			ovary(2)	2						TGATTTCTCAGAAGGAAAGGT	0.393000												
DPPA4	55211	broad.mit.edu	37	3	109049629	109049629	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:109049629T>C	uc003dxq.3	-	5	476	c.421A>G	c.(421-423)ATC>GTC	p.I141V	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.I141V	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	141						nucleus	protein binding			upper_aerodigestive_tract(1)	1						GATTTCCGGATTTTGGCCTCT	0.368000												
QTRTD1	79691	broad.mit.edu	37	3	113804674	113804674	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:113804674T>C	uc003eay.2	+	10	1401	c.1171T>C	c.(1171-1173)TTC>CTC	p.F391L	QTRTD1_uc003eaz.2_Missense_Mutation_p.F403L|QTRTD1_uc011biq.1_Missense_Mutation_p.F268L|QTRTD1_uc011bir.1_Missense_Mutation_p.F285L	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	391					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						CTTTGGGTTTTTCCATTACAT	0.468000												
GSK3B	2932	broad.mit.edu	37	3	119720972	119720972	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:119720972C>A	uc003edo.2	-	2	1186	c.203G>T	c.(202-204)GGT>GTT	p.G68V	GSK3B_uc003edn.2_Missense_Mutation_p.G68V	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	68	Protein kinase.|ATP (By similarity).				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ATATACCACACCAAATGATCC	0.438000												
POLQ	10721	broad.mit.edu	37	3	121238895	121238895	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:121238895C>G	uc003eee.3	-	9	1420	c.1291G>C	c.(1291-1293)GCC>CCC	p.A431P		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	431	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TGACGAAAGGCTCCTTCAATG	0.378000								DNA_polymerases_(catalytic_subunits)				
PDIA5	10954	broad.mit.edu	37	3	122864408	122864408	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:122864408A>G	uc003egc.1	+	12	1006	c.950A>G	c.(949-951)AAG>AGG	p.K317R	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	317	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		GAGTTTGAGAAGGCAGCAGAA	0.512000												
IFT122	55764	broad.mit.edu	37	3	129226544	129226544	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:129226544T>G	uc003emm.2	+	23	3031	c.2825T>G	c.(2824-2826)TTC>TGC	p.F942C	IFT122_uc003eml.2_Missense_Mutation_p.F993C|IFT122_uc003emn.2_Missense_Mutation_p.F883C|IFT122_uc003emo.2_Missense_Mutation_p.F832C|IFT122_uc003emp.2_Missense_Mutation_p.F792C|IFT122_uc010htc.2_Missense_Mutation_p.F935C|IFT122_uc011bky.1_Missense_Mutation_p.F733C|IFT122_uc003emq.2_Missense_Mutation_p.F782C|IFT122_uc003emr.2_Missense_Mutation_p.F695C|IFT122_uc011bla.1_Missense_Mutation_p.F716C|IFT122_uc010hte.2_Missense_Mutation_p.F268C|IFT122_uc003ems.2_Missense_Mutation_p.F324C|IFT122_uc011bkx.1_Missense_Mutation_p.F783C|IFT122_uc010htd.1_Missense_Mutation_p.F421C	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	942					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						CTTGGCAAGTTCTACCACTTC	0.577000												
PRKCI	5584	broad.mit.edu	37	3	170013719	170013719	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:170013719C>A	uc003fgs.2	+	15	1676	c.1438C>A	c.(1438-1440)CGC>AGC	p.R480S	PRKCI_uc003fgt.2_Missense_Mutation_p.R35S	NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	480	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	p.R471C(1)		lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAAACAAATTCGCATACCACG	0.229000												
NLGN1	22871	broad.mit.edu	37	3	173998882	173998882	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:173998882T>A	uc003fio.1	+	7	2684	c.2261T>A	c.(2260-2262)CTT>CAT	p.L754H	NLGN1_uc003fip.1_Missense_Mutation_p.L754H	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	771	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GAGGTGGTTCTTCGGACCGCC	0.463000												
KIAA1211	57482	broad.mit.edu	37	4	57189674	57189674	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:57189674C>T	uc003hbk.2	+	9	3710	c.3319C>T	c.(3319-3321)CGG>TGG	p.R1107W	KIAA1211_uc010iha.2_Missense_Mutation_p.R1100W	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1107										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GCAGGCGACGCGGGAGGAGAG	0.512000												
LPHN3	23284	broad.mit.edu	37	4	62758415	62758415	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:62758415A>T	uc010ihh.2	+	7	1491	c.1318A>T	c.(1318-1320)ACC>TCC	p.T440S	LPHN3_uc003hcq.3_Missense_Mutation_p.T440S|LPHN3_uc003hcs.1_Missense_Mutation_p.T269S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	440	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						AAGCACTACCACCAGTACCAC	0.488000												
EPHA5	2044	broad.mit.edu	37	4	66189849	66189849	+	Missense_Mutation	SNP	C	C	T	rs139793674		TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:66189849C>T	uc003hcy.2	-	18	3290	c.3097G>A	c.(3097-3099)GGA>AGA	p.G1033R	EPHA5_uc003hcx.2_Missense_Mutation_p.G965R|EPHA5_uc003hcz.2_Missense_Mutation_p.G1011R|EPHA5_uc011cah.1_Missense_Mutation_p.G1034R|EPHA5_uc011cai.1_Missense_Mutation_p.G1012R	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	1033	Cytoplasmic (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GGCACCATTCCGTTTACCAGC	0.418000										TSP Lung(17;0.13)		
GC	2638	broad.mit.edu	37	4	72631275	72631275	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:72631275C>T	uc003hge.2	-	4	500	c.347G>A	c.(346-348)GGC>GAC	p.G116D	GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.G116D|GC_uc010iif.2_Missense_Mutation_p.G135D	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	116	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCGTTCCAGGCCCTCTTTGGT	0.532000												
FRAS1	80144	broad.mit.edu	37	4	79421075	79421075	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:79421075G>A	uc003hlb.2	+	61	9756	c.9316G>A	c.(9316-9318)GGT>AGT	p.G3106S	FRAS1_uc003hlc.1_Missense_Mutation_p.G108S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3101	Calx-beta 5.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GTTCAGTCCCGGTAATTGAAT	0.318000												
TMSL3	7117	broad.mit.edu	37	4	91760143	91760143	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:91760143G>A	uc003hsy.2	-	1	127	c.46C>T	c.(46-48)CCG>TCG	p.P16S	FAM190A_uc003hsv.3_Intron|FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.2_Intron	NM_183049	NP_898870			thymosin-like 3												0		all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411)		Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201)		TTCAGTTTCGGCTTATCGAAT	0.517000												
CCNA2	890	broad.mit.edu	37	4	122740665	122740665	+	Silent	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:122740665C>T	uc003iec.3	-	5	1169	c.864G>A	c.(862-864)AAG>AAA	p.K288K		NM_001237	NP_001228	P20248	CCNA2_HUMAN	cyclin A	288					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			ovary(1)	1						GAACTTGTTTCTTGGTGTAGG	0.358000												
SPRY1	10252	broad.mit.edu	37	4	124323037	124323037	+	Silent	SNP	G	G	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:124323037G>T	uc003ifa.2	+	2	479	c.291G>T	c.(289-291)CTG>CTT	p.L97L	SPRY1_uc003ifb.2_Silent_p.L97L	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	97					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3						CAAGCCACCTGGGACATGCAG	0.493000												
MLF1IP	79682	broad.mit.edu	37	4	185637777	185637777	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:185637777T>G	uc003iwq.2	-	6	462	c.392A>C	c.(391-393)AAG>ACG	p.K131T	MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Missense_Mutation_p.K131T	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	131					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GGGCCTGAGCTTTCTTCCTGG	0.343000												
DNAJC21	134218	broad.mit.edu	37	5	34939087	34939087	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr5:34939087G>C	uc003jjc.2	+	6	1095	c.868G>C	c.(868-870)GAA>CAA	p.E290Q	DNAJC21_uc003jjb.2_Missense_Mutation_p.E290Q|DNAJC21_uc010iuu.1_Missense_Mutation_p.E174Q	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 2	290	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGAAATGGAAGAACATGAACT	0.308000												
PTCD2	79810	broad.mit.edu	37	5	71634515	71634515	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr5:71634515C>G	uc003kcb.2	+	7	716	c.706C>G	c.(706-708)CTC>GTC	p.L236V	PTCD2_uc011csf.1_Missense_Mutation_p.L46V|PTCD2_uc003kcc.2_Missense_Mutation_p.L84V|PTCD2_uc011csg.1_Missense_Mutation_p.L64V|PTCD2_uc011csh.1_Missense_Mutation_p.L127V|PTCD2_uc003kcd.2_RNA	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	236											0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		AGGAGAAATTCTCTCCAGGAG	0.418000												
PCDHB14	56122	broad.mit.edu	37	5	140603363	140603363	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr5:140603363T>C	uc003ljb.2	+	1	286	c.286T>C	c.(286-288)TGT>CGT	p.C96R	PCDHB14_uc011dal.1_Intron	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	96	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACGAGCTGTGTGGCTCCAC	0.438000												
PCDHGB3	56102	broad.mit.edu	37	5	140750067	140750067	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr5:140750067G>A	uc003ljw.1	+	1	106	c.106G>A	c.(106-108)GCT>ACT	p.A36T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.A36T	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	36	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCGCTACGCTATTCCCGA	0.577000												
TDRD6	221400	broad.mit.edu	37	6	46656928	46656928	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr6:46656928A>G	uc003oyj.2	+	1	1063	c.1063A>G	c.(1063-1065)AGT>GGT	p.S355G	TDRD6_uc010jze.2_Missense_Mutation_p.S349G	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	355	Tudor 2.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GGAGTTAGTGAGTTGCAGCAG	0.542000												
DPPA5	340168	broad.mit.edu	37	6	74063727	74063727	+	Silent	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr6:74063727G>A	uc003pgs.1	-	2	146	c.141C>T	c.(139-141)ATC>ATT	p.I47I		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	47	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding				0						TCACCTGCTCGATGTAAGGGA	0.612000												
SYNE1	23345	broad.mit.edu	37	6	152712629	152712629	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr6:152712629C>T	uc010kiw.2	-	52	8389	c.7787G>A	c.(7786-7788)CGC>CAC	p.R2596H	SYNE1_uc003qot.3_Missense_Mutation_p.R2603H|SYNE1_uc003qou.3_Missense_Mutation_p.R2596H|SYNE1_uc010kjb.1_Missense_Mutation_p.R2579H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2596	Cytoplasmic (Potential).|Spectrin 5.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAACACAGGCGGCCCTCCTG	0.512000										HNSCC(10;0.0054)		
PRKAR1B	5575	broad.mit.edu	37	7	716895	716895	+	Silent	SNP	G	G	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:716895G>C	uc003siu.1	-	5	517	c.411C>G	c.(409-411)CTC>CTG	p.L137L	PRKAR1B_uc003siv.2_Silent_p.L137L|PRKAR1B_uc003siw.1_Silent_p.L137L	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	137	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGTGAGCGAAGAGCACGTTCT	0.632000												
FKBP14	55033	broad.mit.edu	37	7	30058688	30058688	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:30058688A>C	uc003tal.1	-	3	545	c.401T>G	c.(400-402)ATT>AGT	p.I134S	FKBP14_uc010kvq.1_RNA	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14 precursor	134	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						TCCATTTCGAATCTCCAGGAG	0.383000												
TNS3	64759	broad.mit.edu	37	7	47408817	47408817	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:47408817C>T	uc003tnv.2	-	17	1793	c.1426G>A	c.(1426-1428)GAC>AAC	p.D476N	TNS3_uc003tnw.2_Missense_Mutation_p.D476N	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	476						focal adhesion	protein binding			ovary(4)	4						TCCAGAATGTCTGTCTCCCGA	0.612000												
PCLO	27445	broad.mit.edu	37	7	82584756	82584756	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:82584756G>A	uc003uhx.2	-	5	5802	c.5513C>T	c.(5512-5514)CCG>CTG	p.P1838L	PCLO_uc003uhv.2_Missense_Mutation_p.P1838L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1769					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTCTTCTGTCGGAGATGCATC	0.428000												
ZNF804B	219578	broad.mit.edu	37	7	88847482	88847482	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:88847482A>C	uc011khi.1	+	2	660	c.122A>C	c.(121-123)AAG>ACG	p.K41T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	41						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTGCAGAAAAGAAGTCCACA	0.343000										HNSCC(36;0.09)		
PTPRZ1	5803	broad.mit.edu	37	7	121679509	121679509	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:121679509G>T	uc003vjy.2	+	20	5899	c.5504G>T	c.(5503-5505)AGA>ATA	p.R1835I	PTPRZ1_uc003vjz.2_Missense_Mutation_p.R968I|PTPRZ1_uc011knt.1_Missense_Mutation_p.R425I	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1835	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CTTTTGCAGAGAAAATGTGAT	0.433000												
CASP2	835	broad.mit.edu	37	7	142991371	142991371	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:142991371A>G	uc003wco.2	+	5	671	c.524A>G	c.(523-525)CAG>CGG	p.Q175R	CASP2_uc003wcp.2_Splice_Site_p.C103_splice|CASP2_uc011kta.1_Missense_Mutation_p.Q59R|CASP2_uc003wcq.2_RNA	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	175					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			lung(2)|ovary(1)	3	Melanoma(164;0.059)					GTCTGCCTTCAGGTGAAGCCT	0.403000												
DPP6	1804	broad.mit.edu	37	7	154564623	154564623	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:154564623G>T	uc003wlk.2	+	10	1236	c.1107G>T	c.(1105-1107)GAG>GAT	p.E369D	DPP6_uc003wli.2_Missense_Mutation_p.E305D|DPP6_uc003wlm.2_Missense_Mutation_p.E307D|DPP6_uc011kvq.1_Missense_Mutation_p.E262D	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	369	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			ATGATCTGGAGATGATGCCGC	0.433000												
NRG1	3084	broad.mit.edu	37	8	32621861	32621861	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr8:32621861G>T	uc003xiv.2	+	12	2381	c.1864G>T	c.(1864-1866)GAA>TAA	p.E622*	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Nonsense_Mutation_p.E627*|NRG1_uc003xiw.2_Nonsense_Mutation_p.E619*|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Nonsense_Mutation_p.E364*|NRG1_uc010lvs.2_Nonsense_Mutation_p.E364*|NRG1_uc010lvp.2_Nonsense_Mutation_p.E576*|NRG1_uc010lvq.2_Nonsense_Mutation_p.E559*|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Nonsense_Mutation_p.E465*|NRG1_uc003xja.2_Nonsense_Mutation_p.E433*	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	622	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTCGACACAGGAAGAAATCCA	0.493000												
ATP6V1H	51606	broad.mit.edu	37	8	54682258	54682258	+	Silent	SNP	T	T	C	rs57348174	byFrequency	TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr8:54682258T>C	uc003xrl.2	-	11	1247	c.1095A>G	c.(1093-1095)GAA>GAG	p.E365E	ATP6V1H_uc003xrk.2_Silent_p.E325E|ATP6V1H_uc003xrm.2_Silent_p.E365E|ATP6V1H_uc003xrn.2_Silent_p.E347E|ATP6V1H_uc011ldv.1_Silent_p.E285E|ATP6V1H_uc010lyd.2_Silent_p.E301E	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	365					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CAGGACTCCATTCCAACCTTC	0.323000												
KHDRBS3	10656	broad.mit.edu	37	8	136594304	136594304	+	Silent	SNP	T	T	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr8:136594304T>G	uc003yuv.2	+	6	1189	c.795T>G	c.(793-795)ACT>ACG	p.T265T	KHDRBS3_uc003yuw.2_Silent_p.T265T|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	265					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CACAAGAGACTTATGGAGAAT	0.527000												
PLEC	5339	broad.mit.edu	37	8	144995534	144995534	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr8:144995534C>T	uc003zaf.1	-	32	9036	c.8866G>A	c.(8866-8868)GTG>ATG	p.V2956M	PLEC_uc003zab.1_Missense_Mutation_p.V2819M|PLEC_uc003zac.1_Missense_Mutation_p.V2823M|PLEC_uc003zad.2_Missense_Mutation_p.V2819M|PLEC_uc003zae.1_Missense_Mutation_p.V2787M|PLEC_uc003zag.1_Missense_Mutation_p.V2797M|PLEC_uc003zah.2_Missense_Mutation_p.V2805M|PLEC_uc003zaj.2_Missense_Mutation_p.V2846M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2956	Plectin 4.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGGCTGTGCACGGGGTCGATA	0.682000												
C9orf25	203259	broad.mit.edu	37	9	34401082	34401082	+	Silent	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr9:34401082G>A	uc011lok.1	-	6	745	c.438C>T	c.(436-438)GAC>GAT	p.D146D	C9orf25_uc003zuj.2_Silent_p.D129D|C9orf25_uc003zuk.2_Silent_p.D118D|C9orf25_uc011lol.1_Silent_p.D134D|C9orf25_uc003zul.2_Silent_p.D117D	NM_147202	NP_671735	Q8IW50	CI025_HUMAN	hypothetical protein LOC203259	146											0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.0858)		ACCGGTAGCCGTCCTTCAGCA	0.617000												
COL5A1	1289	broad.mit.edu	37	9	137619115	137619115	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr9:137619115G>A	uc004cfe.2	+	5	1040	c.658G>A	c.(658-660)GAC>AAC	p.D220N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	220	TSP N-terminal.|Laminin G-like.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		TTTCCAGGGTGACATCCAGCA	0.562000												
WAS	7454	broad.mit.edu	37	X	48542701	48542701	+	Silent	SNP	C	C	T			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chrX:48542701C>T	uc004dkm.3	+	2	219	c.162C>T	c.(160-162)TAC>TAT	p.Y54Y		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	54	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				TTCAGCTGTACCTGGCGCTGC	0.592000			Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome			
PHF8	23133	broad.mit.edu	37	X	54020053	54020053	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chrX:54020053C>G	uc004dsu.2	-	13	1788	c.1715G>C	c.(1714-1716)GGC>GCC	p.G572A	PHF8_uc004dst.2_Missense_Mutation_p.G536A|PHF8_uc004dsv.2_Missense_Mutation_p.G402A|PHF8_uc004dsw.2_Intron|PHF8_uc004dsx.2_Missense_Mutation_p.G300A|PHF8_uc004dsy.2_Missense_Mutation_p.G536A	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	572					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						CTGGAAAGAGCCTGTCTTCAG	0.537000												
KIAA1210	57481	broad.mit.edu	37	X	118223450	118223450	+	Silent	SNP	A	A	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chrX:118223450A>G	uc004era.3	-	11	1743	c.1743T>C	c.(1741-1743)AAT>AAC	p.N581N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	581										ovary(4)|skin(1)	5						AGAAAGGGACATTCCTGGCAG	0.488000												
ATP11C	286410	broad.mit.edu	37	X	138880884	138880884	+	Silent	SNP	A	A	G			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chrX:138880884A>G	uc004faz.2	-	9	837	c.738T>C	c.(736-738)AAT>AAC	p.N246N	ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Silent_p.N246N	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	246	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					TCAGCAAGAGATTTTCAGGTC	0.373000												
KBTBD6	89890	broad.mit.edu	37	13	41705329	41705329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr13:41705329delA	uc001uxu.1	-	1	1608	c.1319delT	c.(1318-1320)TTGfs	p.L440fs	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Frame_Shift_Del_p.L374fs|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	440	Kelch 2.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCGCCCCCCCAAAATGTAGAT	0.478												
TP53	7157	broad.mit.edu	37	17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:7577558delG	uc002gim.2	-	7	917	c.723delC	c.(721-723)TCCfs	p.S241fs	TP53_uc002gig.1_Frame_Shift_Del_p.S241fs|TP53_uc002gih.2_Frame_Shift_Del_p.S241fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.S109fs|TP53_uc010cng.1_Frame_Shift_Del_p.S109fs|TP53_uc002gii.1_Frame_Shift_Del_p.S109fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S241fs|TP53_uc010cni.1_Frame_Shift_Del_p.S241fs|TP53_uc002gij.2_Frame_Shift_Del_p.S241fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.S148fs|TP53_uc002gio.2_Frame_Shift_Del_p.S109fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	241	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(73)|p.S241C(24)|p.C242fs*5(9)|p.S241fs*6(8)|p.0?(7)|p.S241Y(7)|p.S241A(6)|p.S241del(5)|p.S241T(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCCCATGCAGGAACTGTTAC	0.577		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
THRAP3	9967	broad.mit.edu	37	1	36762332	36762333	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:36762331_36762332G>GA	uc001cae.4	+	8	2487_2488	c.2263_2264G>GA	c.(2263-2265)gaafs	p.E755fs	THRAP3_uc001caf.4_Frame_Shift_Ins_p.E755fs	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	755					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGTCAGCTGAAAAAACAGAG	0.431			T	USP6	aneurysmal bone cysts							
TACC1	6867	broad.mit.edu	37	8	38677319	38677320	+	Frame_Shift_Ins	INS	-	-	GCCCGCCAGAC			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr8:38677318_38677319A>AGCCCGCCAGAC	uc010lwp.3	+	2	935_936	c.556_557A>AGCCCGCCAGAC	c.(556-558)agcfs	p.S186fs	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Frame_Shift_Ins_p.S141fs|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Frame_Shift_Ins_p.S202fs|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Frame_Shift_Ins_p.S186fs|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	186	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	p.S185S(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TCTGCCTTCCAGCCCGCCAGAC	0.569												
PGR	5241	broad.mit.edu	37	11	100920727	100920729	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:100920726_100920728ACTC>A	uc001pgh.2	-	5	3163_3165	c.2420_2422GAGT>T	c.(2419-2424)gagttt>gTtt	p.807_808EF>V	PGR_uc001pgg.2_In_Frame_Del_p.188_189EF>V|PGR_uc001pgi.2_In_Frame_Del_p.705_706EF>V|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	807	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AGCTTGACAAACTCCTGTGGGAT	0.374												
