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
LRRIQ3	127255	broad.mit.edu	37	1	74507272	74507272	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:74507272A>C	uc001dfy.3	-	7	1535	c.1343T>G	c.(1342-1344)GTT>GGT	p.V448G	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	448										ovary(2)	2						TTCTCGAGCAACTTGTGCCAT	0.318000												
LPAR3	23566	broad.mit.edu	37	1	85331706	85331706	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:85331706A>C	uc001dkl.2	-	1	137	c.98T>G	c.(97-99)GTT>GGT	p.V33G	LPAR3_uc009wcj.1_Missense_Mutation_p.V33G	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	33	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						AACACACAAAACAATCACAAG	0.378000												
AMIGO1	57463	broad.mit.edu	37	1	110051073	110051073	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:110051073G>A	uc001dxx.3	-	2	844	c.462C>T	c.(460-462)TTC>TTT	p.F154F		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	154	LRR 4.|Extracellular (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CCATGTCATCGAAGGCGCACC	0.537000												
C1orf161	126868	broad.mit.edu	37	1	116670948	116670948	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:116670948C>T	uc001egc.1	+	6	1108	c.843C>T	c.(841-843)TCC>TCT	p.S281S		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	hypothetical protein LOC126868	281											0	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTATCACGTCCCACCATCTGC	0.587000												
MTMR11	10903	broad.mit.edu	37	1	149903153	149903153	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:149903153T>A	uc001etl.3	-	13	1540	c.1289A>T	c.(1288-1290)GAG>GTG	p.E430V	SF3B4_uc001etk.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.E358V|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_3'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	430	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CATTCTCACCTCTTCACTGGC	0.498000												
ARNT	405	broad.mit.edu	37	1	150786667	150786667	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:150786667C>T	uc001evr.1	-	20	2142	c.1999G>A	c.(1999-2001)GTG>ATG	p.V667M	ARNT_uc010pck.1_Missense_Mutation_p.V155M|ARNT_uc001evs.1_Missense_Mutation_p.V652M|ARNT_uc009wmb.1_Missense_Mutation_p.V653M|ARNT_uc009wmc.1_Missense_Mutation_p.V665M|ARNT_uc009wmd.1_Missense_Mutation_p.V651M	NM_001668	NP_001659	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	667					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGCTGCCCACACCAAACTGG	0.527000			T	ETV6	AML							
FLG2	388698	broad.mit.edu	37	1	152327266	152327266	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:152327266T>C	uc001ezw.3	-	3	3069	c.2996A>G	c.(2995-2997)TAT>TGT	p.Y999C	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	999	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTTGGCCATAATTAGACTG	0.488000												
IVL	3713	broad.mit.edu	37	1	152882716	152882716	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:152882716A>C	uc001fau.2	+	2	489	c.443A>C	c.(442-444)AAG>ACG	p.K148T		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	148					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGGAATGAAGAAAGAGCAA	0.299000												
NPR1	4881	broad.mit.edu	37	1	153661760	153661760	+	Silent	SNP	G	G	A	rs141781853		TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:153661760G>A	uc001fcs.3	+	17	3082	c.2661G>A	c.(2659-2661)GCG>GCA	p.A887A	NPR1_uc010pdz.1_Silent_p.A633A|NPR1_uc010pea.1_Silent_p.A365A	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	887	Guanylate cyclase.|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)	GTTTCACAGCGCTGTCGGCGG	0.582000												
SPTA1	6708	broad.mit.edu	37	1	158654936	158654936	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:158654936A>C	uc001fst.1	-	2	425	c.226T>G	c.(226-228)TTA>GTA	p.L76V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	76	Spectrin 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTATCGGTTAAGATATTGACT	0.284000												
IFI16	3428	broad.mit.edu	37	1	159015246	159015246	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:159015246T>G	uc010pis.1	+	7	1500	c.1321T>G	c.(1321-1323)TTA>GTA	p.L441V	IFI16_uc001ftg.2_Intron|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Missense_Mutation_p.L96V	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	497					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					CAGCAGTTTCTTAACCACGGT	0.493000												
OR10J5	127385	broad.mit.edu	37	1	159505764	159505764	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:159505764A>C	uc010piw.1	-	1	34	c.34T>G	c.(34-36)TTC>GTC	p.F12V		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					AAGAAAATGAATTCTGACACT	0.368000												
VANGL2	57216	broad.mit.edu	37	1	160389129	160389129	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:160389129G>A	uc001fwb.1	+	5	829	c.530G>A	c.(529-531)CGC>CAC	p.R177H	VANGL2_uc001fwc.1_Missense_Mutation_p.R177H	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	177	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGCTGCCCCGCGTCTTTGTG	0.627000												
SELP	6403	broad.mit.edu	37	1	169582271	169582271	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:169582271G>A	uc001ggi.3	-	5	736	c.671C>T	c.(670-672)TCG>TTG	p.S224L	SELP_uc001ggh.2_Missense_Mutation_p.S59L|SELP_uc009wvr.2_Missense_Mutation_p.S224L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	224	Extracellular (Potential).|Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCTGCACTGCGAGTTAAAAGA	0.507000												
PTPRC	5788	broad.mit.edu	37	1	198685876	198685876	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:198685876A>C	uc001gur.1	+	13	1531	c.1351A>C	c.(1351-1353)ACG>CCG	p.T451P	PTPRC_uc001gus.1_Missense_Mutation_p.T403P|PTPRC_uc001gut.1_Missense_Mutation_p.T290P|PTPRC_uc009wzf.1_Missense_Mutation_p.T339P|PTPRC_uc010ppg.1_Missense_Mutation_p.T387P	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	451	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						AAAACCTTATACGAAATATGT	0.313000												
NAV1	89796	broad.mit.edu	37	1	201751367	201751367	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:201751367G>A	uc001gwu.2	+	6	2074	c.1727G>A	c.(1726-1728)CGC>CAC	p.R576H	NAV1_uc001gwv.1_Missense_Mutation_p.R84H|NAV1_uc001gww.1_Missense_Mutation_p.R185H|NAV1_uc001gwx.2_Missense_Mutation_p.R185H|NAV1_uc001gwy.1_5'UTR	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	576					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GGGCTCCAACGCTCCTCCTCT	0.552000												
PPP1R12B	4660	broad.mit.edu	37	1	202407143	202407143	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:202407143C>A	uc001gya.1	+	10	1593	c.1449C>A	c.(1447-1449)AAC>AAA	p.N483K	PPP1R12B_uc001gxy.2_Missense_Mutation_p.N483K|PPP1R12B_uc009xad.1_Missense_Mutation_p.N289K|PPP1R12B_uc009xae.1_3'UTR|PPP1R12B_uc001gxz.1_Missense_Mutation_p.N483K	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	483					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			TACTGGACAACAAAGATAAGG	0.438000												
PLXNA2	5362	broad.mit.edu	37	1	208257739	208257739	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:208257739A>G	uc001hgz.2	-	10	3042	c.2284T>C	c.(2284-2286)TGT>CGT	p.C762R		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	762	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGTTCTGACACTGAACGCTG	0.627000												
USH2A	7399	broad.mit.edu	37	1	215914777	215914777	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:215914777T>C	uc001hku.1	-	60	12038	c.11651A>G	c.(11650-11652)GAG>GGG	p.E3884G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3884	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCACTTAATCTCTATGCAAGC	0.378000										HNSCC(13;0.011)		
ESRRG	2104	broad.mit.edu	37	1	216850642	216850642	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:216850642G>A	uc001hkw.1	-	2	414	c.248C>T	c.(247-249)CCT>CTT	p.P83L	ESRRG_uc001hky.1_Missense_Mutation_p.P60L|ESRRG_uc009xdp.1_Missense_Mutation_p.P60L|ESRRG_uc001hkz.1_Missense_Mutation_p.P60L|ESRRG_uc010puc.1_Missense_Mutation_p.P60L|ESRRG_uc001hla.1_Missense_Mutation_p.P60L|ESRRG_uc001hlb.1_Missense_Mutation_p.P60L|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.P60L|ESRRG_uc001hld.1_Missense_Mutation_p.P60L|ESRRG_uc001hkx.1_Missense_Mutation_p.P88L|ESRRG_uc009xdo.1_Missense_Mutation_p.P60L|ESRRG_uc001hle.1_Missense_Mutation_p.P60L	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	83					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AGGGTAGAGAGGTGGCGAGTC	0.552000												
OR2G3	81469	broad.mit.edu	37	1	247769014	247769014	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:247769014T>G	uc010pyz.1	+	1	127	c.127T>G	c.(127-129)TTC>GTC	p.F43V		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	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;0.017)			TGTGGGAAACTTCACCATAAT	0.443000												
OR1C1	26188	broad.mit.edu	37	1	247920983	247920983	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:247920983G>A	uc010pza.1	-	1	726	c.726C>T	c.(724-726)AGC>AGT	p.S242S		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACAGGTGGCAGCTGCAGGTGG	0.527000												
OR2T6	254879	broad.mit.edu	37	1	248551653	248551653	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:248551653G>A	uc001iei.1	+	1	744	c.744G>A	c.(742-744)GTG>GTA	p.V248V		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGATGGTGGTGACATTGTTCT	0.483000												
PDSS1	23590	broad.mit.edu	37	10	26993640	26993640	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:26993640C>A	uc001isv.2	+	3	243	c.197C>A	c.(196-198)TCT>TAT	p.S66Y	PDSS1_uc001isw.2_Missense_Mutation_p.S66Y	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	prenyl diphosphate synthase, subunit 1	66				S -> P (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity				0						CATTTAACATCTGCCTGTCCA	0.259000												
OR13A1	79290	broad.mit.edu	37	10	45799582	45799582	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:45799582G>A	uc001jcc.1	-	4	598	c.289C>T	c.(289-291)CCC>TCC	p.P97S	OR13A1_uc001jcd.1_Missense_Mutation_p.P93S	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCGCCTTGGGCATGATGGAA	0.552000												
RBP3	5949	broad.mit.edu	37	10	48390461	48390461	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:48390461C>T	uc001jez.2	-	1	531	c.417G>A	c.(415-417)CCG>CCA	p.P139P		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	139	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CCTCCTGGCCCGGGACGCTGT	0.637000												
SLC18A3	6572	broad.mit.edu	37	10	50819325	50819325	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:50819325C>T	uc001jhw.2	+	1	979	c.539C>T	c.(538-540)GCG>GTG	p.A180V	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	180	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						ACGCTGTTCGCGGCGCGCAGC	0.662000												
PCDH15	65217	broad.mit.edu	37	10	55569106	55569106	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:55569106T>A	uc010qhs.1	-	37	5114	c.4719A>T	c.(4717-4719)GAA>GAT	p.E1573D	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.E1566D|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGCCACTCTTCACCCTCAA	0.413000										HNSCC(58;0.16)		
CDH23	64072	broad.mit.edu	37	10	73574963	73574963	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:73574963C>T	uc001jrx.3	+	68	10370	c.9993C>T	c.(9991-9993)TCC>TCT	p.S3331S	CDH23_uc001jsg.3_Silent_p.S1091S|CDH23_uc001jsh.3_Silent_p.S1056S|CDH23_uc001jsi.3_Silent_p.S1056S|CDH23_uc001jsj.3_Silent_p.S228S|CDH23_uc010qjr.1_Silent_p.S193S	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3331	Cytoplasmic (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GCACAGAATCCGCCAAATCCA	0.632000												
SEMA4G	57715	broad.mit.edu	37	10	102737435	102737435	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:102737435C>T	uc010qpt.1	+	5	826	c.383C>T	c.(382-384)ACC>ATC	p.T128I	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.T128I|SEMA4G_uc001krx.2_Missense_Mutation_p.T128I	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	128	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTCAATTCTACCCACCTCTAT	0.478000												
PPRC1	23082	broad.mit.edu	37	10	103898676	103898676	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:103898676G>A	uc001kum.2	+	4	569	c.530G>A	c.(529-531)CGT>CAT	p.R177H	PPRC1_uc001kun.2_Missense_Mutation_p.R57H|PPRC1_uc010qqj.1_Missense_Mutation_p.R177H|PPRC1_uc009xxa.2_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCCCAGAACGTGACCTCATC	0.542000												
CCDC147	159686	broad.mit.edu	37	10	106125738	106125738	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:106125738A>G	uc001kyh.2	+	5	898	c.764A>G	c.(763-765)AAG>AGG	p.K255R		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	255	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGCTTCAGAAGCTGGAGCAG	0.498000												
CCDC147	159686	broad.mit.edu	37	10	106209856	106209856	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:106209856G>A	uc001kyh.2	+	17	2538	c.2404G>A	c.(2404-2406)GAA>AAA	p.E802K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	802	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAATATGTATGAAGTACAGAG	0.323000												
PDZD8	118987	broad.mit.edu	37	10	119078468	119078468	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr10:119078468G>A	uc001lde.1	-	3	1212	c.1013C>T	c.(1012-1014)TCC>TTC	p.S338F		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	338					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTGTCATAGGATCCAAAAAT	0.323000												
PHRF1	57661	broad.mit.edu	37	11	608145	608145	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:608145G>A	uc001lqe.2	+	14	2820	c.2689G>A	c.(2689-2691)GGA>AGA	p.G897R	PHRF1_uc010qwc.1_Missense_Mutation_p.G896R|PHRF1_uc010qwd.1_Missense_Mutation_p.G895R|PHRF1_uc010qwe.1_Missense_Mutation_p.G893R|PHRF1_uc009ybz.1_Missense_Mutation_p.G687R|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	897							RNA polymerase binding|zinc ion binding				0						ACCCCCTCTCGGACCGTCCTC	0.672000												
OR51L1	119682	broad.mit.edu	37	11	5020717	5020717	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:5020717C>T	uc010qyu.1	+	1	505	c.505C>T	c.(505-507)CAC>TAC	p.H169Y		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGACACTATCACTACTGCCA	0.473000												
OR2D2	120776	broad.mit.edu	37	11	6913570	6913570	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:6913570T>G	uc010rau.1	-	1	162	c.162A>C	c.(160-162)CAA>CAC	p.Q54H		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGTGTGAAGTTGGGAGTCAA	0.458000												
C11orf16	56673	broad.mit.edu	37	11	8951047	8951047	+	Silent	SNP	G	G	A	rs142369137		TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:8951047G>A	uc001mhb.3	-	3	325	c.201C>T	c.(199-201)GCC>GCT	p.A67A	C11orf16_uc001mhc.3_Silent_p.A67A	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	67										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		ATGCTGGGTCGGCAACGTGGA	0.522000												
WEE1	7465	broad.mit.edu	37	11	9608313	9608313	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:9608313A>G	uc001mhs.2	+	10	1950	c.1697A>G	c.(1696-1698)CAT>CGT	p.H566R	WEE1_uc001mht.2_Missense_Mutation_p.H352R	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	566	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CTGGTAAAGCATTCAGTATTG	0.348000												
AMBRA1	55626	broad.mit.edu	37	11	46564896	46564896	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:46564896C>T	uc010rgu.1	-	7	1031	c.671G>A	c.(670-672)CGT>CAT	p.R224H	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.R224H|AMBRA1_uc001ncu.1_Missense_Mutation_p.R224H|AMBRA1_uc001ncv.2_Missense_Mutation_p.R224H|AMBRA1_uc001ncw.2_Missense_Mutation_p.R224H|AMBRA1_uc001ncx.2_Missense_Mutation_p.R224H	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	224					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGCACGCTGACGGTAGTGGGA	0.582000												
ZNF408	79797	broad.mit.edu	37	11	46724788	46724788	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:46724788G>C	uc001nde.1	+	4	877	c.647G>C	c.(646-648)TGC>TCC	p.C216S	ARHGAP1_uc001ndd.2_5'Flank|ARHGAP1_uc009yle.1_5'Flank|ARHGAP1_uc009ylf.1_5'Flank|ZNF408_uc010rgw.1_Missense_Mutation_p.C208S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						GCAGAACCTTGCATAGGTATG	0.383000												
FOLH1	2346	broad.mit.edu	37	11	49221943	49221943	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:49221943A>G	uc001ngy.2	-	3	536	c.275T>C	c.(274-276)CTT>CCT	p.L92P	FOLH1_uc001ngz.2_Missense_Mutation_p.L92P|FOLH1_uc009yly.2_Missense_Mutation_p.L77P|FOLH1_uc009ylz.2_Missense_Mutation_p.L77P|FOLH1_uc009yma.2_Intron|FOLH1_uc001nha.2_Missense_Mutation_p.L77P	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	92	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTGCTTTGCAAGCTGAAAGTT	0.363000												
OR4P4	81300	broad.mit.edu	37	11	55406147	55406147	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:55406147T>G	uc010rij.1	+	1	314	c.314T>G	c.(313-315)TTT>TGT	p.F105C		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						ACCCATTTTTTTGGAGGCATA	0.428000												
OR5L1	219437	broad.mit.edu	37	11	55579654	55579654	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:55579654T>G	uc001nhw.1	+	1	712	c.712T>G	c.(712-714)TTC>GTC	p.F238V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				GCACAAAGCCTTCTCCACCTG	0.498000												
DRAP1	10589	broad.mit.edu	37	11	65688402	65688402	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:65688402A>T	uc001ogj.1	+	6	716	c.471A>T	c.(469-471)CAA>CAT	p.Q157H	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	157					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)		AGACATCACAACCCCCACCCC	0.577000												
ODZ4	26011	broad.mit.edu	37	11	78383337	78383337	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:78383337C>T	uc001ozl.3	-	31	5997	c.5534G>A	c.(5533-5535)CGC>CAC	p.R1845H	ODZ4_uc001ozk.3_Missense_Mutation_p.R70H|ODZ4_uc009yvb.1_Missense_Mutation_p.R429H	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1845	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GCGTGTTACGCGATCAAAGTC	0.517000												
DYNC2H1	79659	broad.mit.edu	37	11	103027345	103027345	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:103027345G>A	uc001pho.2	+	26	4117	c.3973G>A	c.(3973-3975)GTA>ATA	p.V1325I	DYNC2H1_uc001phn.1_Missense_Mutation_p.V1325I|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1325	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAAGATAAAGTATCAATTTG	0.343000												
FAM55D	54827	broad.mit.edu	37	11	114453678	114453678	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:114453678G>A	uc001ppc.2	-	3	343	c.162C>T	c.(160-162)TTC>TTT	p.F54F	FAM55D_uc001ppd.2_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	54						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GTGTTTTAGGGAATAAGGACT	0.403000												
TRAPPC4	51399	broad.mit.edu	37	11	118889853	118889853	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:118889853T>A	uc010ryo.1	+	2	441	c.176T>A	c.(175-177)GTG>GAG	p.V59E	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.V59E|TRAPPC4_uc010ryp.1_Missense_Mutation_p.V59E|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.V59E	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	59					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		ACCTCTGCAGTGGGTCATGCA	0.602000												
OR8G2	26492	broad.mit.edu	37	11	124096172	124096172	+	Silent	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:124096172T>C	uc010saf.1	+	1	775	c.775T>C	c.(775-777)TTG>CTG	p.L259L		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	259						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)		CTCCCACATCTTGGCTGTTGC	0.502000												
SLC37A2	219855	broad.mit.edu	37	11	124949031	124949031	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr11:124949031C>T	uc001qbn.2	+	5	589	c.338C>T	c.(337-339)CCG>CTG	p.P113L	SLC37A2_uc010sau.1_Missense_Mutation_p.P113L	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	113					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GAGCGGCTTCCGCTCCGTTAC	0.468000												
TAS2R7	50837	broad.mit.edu	37	12	10954798	10954798	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:10954798C>G	uc001qyv.2	-	1	429	c.372G>C	c.(370-372)TGG>TGC	p.W124C		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	124	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						TGTCAATTCTCCACTTCATCC	0.418000												
TAS2R14	50840	broad.mit.edu	37	12	11091473	11091473	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:11091473C>T	uc010shi.1	-	1	334	c.334G>A	c.(334-336)GCC>ACC	p.A112T	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	112	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						GAAAAATTGGCTATCTTGAGA	0.348000												
SOX5	6660	broad.mit.edu	37	12	23908589	23908589	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:23908589T>G	uc001rfw.2	-	4	653	c.551A>C	c.(550-552)AAC>ACC	p.N184T	SOX5_uc001rfx.2_Missense_Mutation_p.N171T|SOX5_uc001rfy.2_Missense_Mutation_p.N171T|SOX5_uc010siv.1_Missense_Mutation_p.N171T|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.N136T	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	184					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TTCGCCAAAGTTCCCCGATCC	0.338000												
TSPAN11	441631	broad.mit.edu	37	12	31132552	31132552	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:31132552G>A	uc010sju.1	+	5	783	c.403G>A	c.(403-405)GGG>AGG	p.G135R	TSPAN11_uc001rjp.2_Missense_Mutation_p.G135R|TSPAN11_uc010sjv.1_Missense_Mutation_p.G125R	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	tetraspanin 11	135						integral to membrane					0	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGAGAACTACGGGCAGCCCGG	0.527000												
LRRK2	120892	broad.mit.edu	37	12	40668689	40668689	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:40668689A>G	uc001rmg.3	+	16	1956	c.1835A>G	c.(1834-1836)TAC>TGC	p.Y612C	LRRK2_uc001rmh.1_Missense_Mutation_p.Y234C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	612					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTATAGGATACTTGATTACA	0.313000												
EIF4B	1975	broad.mit.edu	37	12	53433975	53433975	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:53433975G>C	uc001sbh.3	+	15	2010	c.1804G>C	c.(1804-1806)GAT>CAT	p.D602H	EIF4B_uc010snu.1_Missense_Mutation_p.D607H|EIF4B_uc010snv.1_Missense_Mutation_p.D563H|EIF4B_uc001sbi.2_Missense_Mutation_p.D355H|uc001sbj.1_RNA	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	602					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2						TGATGGTGAAGATGAAAATGA	0.433000												
NEUROD4	58158	broad.mit.edu	37	12	55420235	55420235	+	Silent	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:55420235T>G	uc001sgp.3	+	2	390	c.12T>G	c.(10-12)ACT>ACG	p.T4T		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	4					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						TGTCAAAAACTTTTGTAAAAT	0.378000												
CEP290	80184	broad.mit.edu	37	12	88473003	88473003	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:88473003G>C	uc001tar.2	-	39	5574	c.5230C>G	c.(5230-5232)CTT>GTT	p.L1744V	CEP290_uc001taq.2_Missense_Mutation_p.L804V	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1744	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						GCCCGACTAAGTGCCTAAAAA	0.318000												
STAB2	55576	broad.mit.edu	37	12	104049325	104049325	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:104049325A>C	uc001tjw.2	+	15	1886	c.1700A>C	c.(1699-1701)AAG>ACG	p.K567T		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	567	Extracellular (Potential).|FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AATAACATGAAGGACGGCACT	0.458000												
DDX54	79039	broad.mit.edu	37	12	113603492	113603492	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:113603492C>T	uc001tup.2	-	14	1704	c.1676G>A	c.(1675-1677)CGG>CAG	p.R559Q	DDX54_uc001tuq.3_Missense_Mutation_p.R559Q	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	559					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						CAGCCTCAGCCGCTGCAGCTC	0.607000												
KSR2	283455	broad.mit.edu	37	12	118298219	118298219	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr12:118298219G>C	uc001two.2	-	2	166	c.111C>G	c.(109-111)TAC>TAG	p.Y37*		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	66					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCGGCTGAAGTACTTCACCA	0.592000												
TRPC4	7223	broad.mit.edu	37	13	38320315	38320315	+	Missense_Mutation	SNP	G	G	A	rs79170793		TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr13:38320315G>A	uc001uws.2	-	3	891	c.656C>T	c.(655-657)ACA>ATA	p.T219I	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.T219I|TRPC4_uc010tey.1_Missense_Mutation_p.T219I|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Missense_Mutation_p.T219I|TRPC4_uc010aby.2_Missense_Mutation_p.T219I	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	219	Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGAAAGGCTGTGAGAAAAGG	0.488000												
DHRS4L1	728635	broad.mit.edu	37	14	24505773	24505773	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr14:24505773T>C	uc010alc.2	+	1	64	c.64T>C	c.(64-66)TCC>CCC	p.S22P	DHRS4L1_uc010tnu.1_RNA	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	22							binding|oxidoreductase activity				0						GTTGGCCAGCTCCGGGATGAC	0.647000												
PNN	5411	broad.mit.edu	37	14	39646862	39646862	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr14:39646862T>A	uc001wuw.3	+	5	490	c.393T>A	c.(391-393)GAT>GAA	p.D131E		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	131	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TTATCCAGGATCAAAATATGG	0.398000												
SYNE2	23224	broad.mit.edu	37	14	64518714	64518714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr14:64518714G>T	uc001xgm.2	+	48	8313	c.8083G>T	c.(8083-8085)GGA>TGA	p.G2695*	SYNE2_uc001xgl.2_Nonsense_Mutation_p.G2695*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2695	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGGATTTGGGGAGAAAAAGA	0.393000												
ADAM21	8747	broad.mit.edu	37	14	70925106	70925106	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr14:70925106T>C	uc001xmd.2	+	1	890	c.890T>C	c.(889-891)ATG>ACG	p.M297T		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	297	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTGCACATATGTTCATAAAA	0.383000												
GABRA5	2558	broad.mit.edu	37	15	27114465	27114465	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:27114465T>G	uc001zbd.1	+	4	409	c.70T>G	c.(70-72)TTA>GTA	p.L24V	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	24					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCCATGAACTTATCCAGTCA	0.393000												
OCA2	4948	broad.mit.edu	37	15	28196946	28196946	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:28196946G>A	uc001zbh.3	-	18	2045	c.1935C>T	c.(1933-1935)GGC>GGT	p.G645G	OCA2_uc010ayv.2_Silent_p.G621G	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	645	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAAGATGAATGCCAGGGACAA	0.433000									Oculocutaneous_Albinism			
RYR3	6263	broad.mit.edu	37	15	33925224	33925224	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:33925224T>G	uc001zhi.2	+	24	3012	c.2942T>G	c.(2941-2943)ATT>AGT	p.I981S	RYR3_uc010bar.2_Missense_Mutation_p.I981S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	981	2.|4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCAAGAAATTTTAGTGGAT	0.393000												
RYR3	6263	broad.mit.edu	37	15	33954664	33954664	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:33954664G>T	uc001zhi.2	+	35	5003	c.4933G>T	c.(4933-4935)GAC>TAC	p.D1645Y	RYR3_uc010bar.2_Missense_Mutation_p.D1645Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1645	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCTTCCCGGACGAGTCCAA	0.572000												
TMEM87A	25963	broad.mit.edu	37	15	42560228	42560228	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:42560228C>G	uc010udd.1	-	3	367	c.208G>C	c.(208-210)GAT>CAT	p.D70H	TMEM87A_uc001zpf.3_Missense_Mutation_p.D9H|TMEM87A_uc010bcu.1_Missense_Mutation_p.D9H|TMEM87A_uc001zpg.2_Missense_Mutation_p.D70H	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A isoform 1	70						integral to membrane				ovary(1)	1		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GGTTCTCCATCAACTACAAAA	0.313000												
CEP152	22995	broad.mit.edu	37	15	49083523	49083523	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:49083523G>C	uc001zwy.2	-	8	917	c.883C>G	c.(883-885)CAG>GAG	p.Q295E	CEP152_uc001zwz.2_Missense_Mutation_p.Q295E|CEP152_uc001zxa.1_Missense_Mutation_p.Q202E	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	295	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTCCATTCTGAAAGAGTTTC	0.363000												
CILP	8483	broad.mit.edu	37	15	65489129	65489129	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:65489129C>T	uc002aon.2	-	9	3676	c.3495G>A	c.(3493-3495)CAG>CAA	p.Q1165Q		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	1165					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CCACTCCACCCTGGCGCTGGC	0.587000												
C15orf58	390637	broad.mit.edu	37	15	90784534	90784534	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr15:90784534G>A	uc002bpc.2	+	4	573	c.394G>A	c.(394-396)GGA>AGA	p.G132R		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	132					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						GATCCGGCCCGGAGAAGTCCT	0.587000												
GLYR1	84656	broad.mit.edu	37	16	4882044	4882044	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr16:4882044G>T	uc002cxx.3	-	5	510	c.473C>A	c.(472-474)TCC>TAC	p.S158Y	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.S89Y|GLYR1_uc002cya.2_Missense_Mutation_p.S158Y|GLYR1_uc010uxv.1_Intron	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	158					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						TTTCAGAGGGGATTTGGAGCC	0.522000												
ABR	29	broad.mit.edu	37	17	910419	910419	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:910419C>T	uc002fsd.2	-	22	2586	c.2476G>A	c.(2476-2478)GAC>AAC	p.D826N	ABR_uc002fse.2_Missense_Mutation_p.D780N|ABR_uc010vqf.1_Missense_Mutation_p.D277N|ABR_uc010vqg.1_Missense_Mutation_p.D608N|ABR_uc002fsg.2_Missense_Mutation_p.D789N|ABR_uc002fsf.2_Missense_Mutation_p.D363N	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	826	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCCATGACGTCATGGGACCAG	0.652000												
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; 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.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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)		
DNAH9	1770	broad.mit.edu	37	17	11671866	11671866	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:11671866G>T	uc002gne.2	+	37	7335	c.7267G>T	c.(7267-7269)GAC>TAC	p.D2423Y	DNAH9_uc010coo.2_Missense_Mutation_p.D1717Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2423					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTATTACATCGACCCAGAGAC	0.527000												
SREBF1	6720	broad.mit.edu	37	17	17718001	17718001	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:17718001C>T	uc002gru.1	-	15	2857	c.2663G>A	c.(2662-2664)CGG>CAG	p.R888Q	SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.R507Q|SREBF1_uc002grq.1_Missense_Mutation_p.R407Q|SREBF1_uc002grr.1_Missense_Mutation_p.R634Q|SREBF1_uc002grs.1_Missense_Mutation_p.R864Q|SREBF1_uc002grt.1_Missense_Mutation_p.R918Q|MIR33B_hsa-mir-33b|MI0003646_5'Flank	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	888	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CTCATCCCGCCGCAGCCAGTG	0.672000												
ATAD5	79915	broad.mit.edu	37	17	29220647	29220647	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:29220647G>A	uc002hfs.1	+	21	5122	c.4776G>A	c.(4774-4776)CTG>CTA	p.L1592L		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1592	Poly-Ser.				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTATTAGCCTGTCCTCTGTAT	0.368000												
AP2B1	163	broad.mit.edu	37	17	33966626	33966626	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:33966626C>G	uc002hjr.2	+	11	1473	c.1284C>G	c.(1282-1284)ATC>ATG	p.I428M	AP2B1_uc002hjq.2_Missense_Mutation_p.I428M|AP2B1_uc010wci.1_Missense_Mutation_p.I390M|AP2B1_uc002hjs.2_Missense_Mutation_p.I371M|AP2B1_uc002hjt.2_Missense_Mutation_p.I428M|AP2B1_uc010ctv.2_Missense_Mutation_p.I428M|AP2B1_uc010wcj.1_Missense_Mutation_p.I165M	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	428					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATGAAAGTATCATCGCCACTC	0.398000												
TAF15	8148	broad.mit.edu	37	17	34171905	34171905	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:34171905C>T	uc002hkd.2	+	15	1688	c.1602C>T	c.(1600-1602)GAC>GAT	p.D534D	TAF15_uc002hkc.2_Silent_p.D531D	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	534	Arg/Gly-rich.|17.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATGGAGGAGACCGTGGTGGTG	0.418000			T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL							
CASC3	22794	broad.mit.edu	37	17	38319064	38319064	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38319064C>T	uc010cwt.1	+	6	990	c.695C>T	c.(694-696)TCC>TTC	p.S232F	CASC3_uc010cws.1_Missense_Mutation_p.S232F|CASC3_uc002hue.2_Missense_Mutation_p.S232F	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	232	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						GCCCCAAAGTCCCGACAGGAG	0.512000												
CASC3	22794	broad.mit.edu	37	17	38324513	38324513	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38324513C>T	uc010cwt.1	+	11	2103	c.1808C>T	c.(1807-1809)CCA>CTA	p.P603L	CASC3_uc002hue.2_Missense_Mutation_p.P603L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	603	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						TATCCCCCACCAGTGTCCATG	0.488000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC3	22794	broad.mit.edu	37	17	38324586	38324586	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38324586C>T	uc010cwt.1	+	11	2176	c.1881C>T	c.(1879-1881)GTC>GTT	p.V627V	CASC3_uc002hue.2_Silent_p.V627V	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	627	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTCCAGGCGTCATGAACTTTG	0.542000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC3	22794	broad.mit.edu	37	17	38324639	38324639	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38324639C>T	uc010cwt.1	+	11	2229	c.1934C>T	c.(1933-1935)CCA>CTA	p.P645L	CASC3_uc002hue.2_Missense_Mutation_p.P645L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	645	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTGCCTCCCCCACCACCGCCT	0.478000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC3	22794	broad.mit.edu	37	17	38325584	38325584	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38325584C>T	uc010cwt.1	+	12	2268	c.1973C>T	c.(1972-1974)TCA>TTA	p.S658L	CASC3_uc002hue.2_Missense_Mutation_p.S658L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	658	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGGCCCCATCACAGGTATAT	0.517000												
CASC3	22794	broad.mit.edu	37	17	38325681	38325681	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:38325681C>T	uc010cwt.1	+	12	2365	c.2070C>T	c.(2068-2070)ATC>ATT	p.I690I	CASC3_uc002hue.2_Silent_p.I690I	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	690	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGTCACCATCAAGCCCCCTC	0.557000												
HAP1	9001	broad.mit.edu	37	17	39890671	39890671	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:39890671C>T	uc002hxm.1	-	1	228	c.216G>A	c.(214-216)TCG>TCA	p.S72S	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.S72S|HAP1_uc002hxo.1_Silent_p.S72S|HAP1_uc002hxp.1_Silent_p.S72S	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	72					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCCAGCCTCCGAGGCCGGGC	0.697000												
EPN3	55040	broad.mit.edu	37	17	48619031	48619031	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:48619031A>G	uc002ira.3	+	9	1996	c.1561A>G	c.(1561-1563)AAG>GAG	p.K521E	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.K549E|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.K494E	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	521						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCAGGTTGCAAAGACCCGGAA	0.607000												
LPO	4025	broad.mit.edu	37	17	56326946	56326946	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:56326946G>A	uc002ivt.2	+	6	779	c.463G>A	c.(463-465)GCC>ACC	p.A155T	LPO_uc010dco.2_Missense_Mutation_p.A155T|LPO_uc010wnr.1_Missense_Mutation_p.A72T|LPO_uc010wns.1_Missense_Mutation_p.A96T|LPO_uc010dcp.2_Missense_Mutation_p.A72T|LPO_uc010dcq.2_5'UTR|LPO_uc010dcr.2_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	155					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						TGCGCTGGGCGCCGCCAACAG	0.716000												
CYGB	114757	broad.mit.edu	37	17	74527570	74527570	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:74527570T>G	uc002jru.1	-	2	505	c.347A>C	c.(346-348)AAG>ACG	p.K116T	CYGB_uc002jrv.1_Missense_Mutation_p.K51T|PRCD_uc002jrw.1_Intron	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	cytoglobin	116	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity				0						CACCTTGTGCTTGAGGGCGTG	0.637000												
CD7	924	broad.mit.edu	37	17	80274791	80274791	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr17:80274791G>T	uc002kel.1	-	2	258	c.149C>A	c.(148-150)ACC>AAC	p.T50N	CD7_uc010din.2_Missense_Mutation_p.T50N|CD7_uc002kem.2_Missense_Mutation_p.H31Q|CD7_uc010wvk.1_Missense_Mutation_p.T50N	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	50	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GCCCCCGCTGGTGGAGCAGGT	0.647000												
FAM38B	63895	broad.mit.edu	37	18	10689765	10689765	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr18:10689765G>A	uc002kor.3	-	7	1057	c.917C>T	c.(916-918)GCA>GTA	p.A306V	FAM38B_uc002koq.2_Missense_Mutation_p.A204V	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2349						integral to membrane	ion channel activity			ovary(1)	1						GTCCATCACTGCCCTCAGCTC	0.562000												
CEP76	79959	broad.mit.edu	37	18	12678251	12678251	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr18:12678251C>T	uc002kri.2	-	10	1636	c.1480G>A	c.(1480-1482)GAA>AAA	p.E494K	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Missense_Mutation_p.E316K|CEP76_uc010wzz.1_Missense_Mutation_p.E419K	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	494					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0						TTAATTGCTTCCTCACTCATG	0.443000												
CELF4	56853	broad.mit.edu	37	18	34850769	34850769	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr18:34850769G>A	uc002lae.2	-	8	1457	c.1061C>T	c.(1060-1062)GCG>GTG	p.A354V	CELF4_uc010dnd.1_Missense_Mutation_p.A352V|CELF4_uc002lag.2_Missense_Mutation_p.A344V|CELF4_uc002laf.2_Missense_Mutation_p.A349V|CELF4_uc002lai.2_Missense_Mutation_p.A339V|CELF4_uc002lah.1_Missense_Mutation_p.A79V	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	354					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						CACAGCTTCCGCAGCAGGTTG	0.587000												
DSEL	92126	broad.mit.edu	37	18	65178783	65178783	+	Silent	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr18:65178783T>C	uc002lke.1	-	2	4317	c.3093A>G	c.(3091-3093)GGA>GGG	p.G1031G		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1021						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				TCATCGAAGCTCCTAAAACTT	0.408000												
SALL3	27164	broad.mit.edu	37	18	76754298	76754298	+	Silent	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr18:76754298G>T	uc002lmt.2	+	2	2307	c.2307G>T	c.(2305-2307)ACG>ACT	p.T769T	SALL3_uc010dra.2_Silent_p.T376T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCCCAACACGCCGCTGCCGG	0.632000												
SH3GL1	6455	broad.mit.edu	37	19	4361603	4361603	+	Silent	SNP	C	C	T	rs146571406	byFrequency	TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:4361603C>T	uc002maj.2	-	10	1207	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	SH3GL1_uc002mak.2_Silent_p.P303P|SH3GL1_uc010xig.1_Silent_p.P319P	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	367					central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TGAGTCACTGCGGCAGGGGCA	0.687000			T	MLL	AL							
RANBP3	8498	broad.mit.edu	37	19	5917643	5917643	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:5917643C>T	uc002mdw.2	-	17	1909	c.1682G>A	c.(1681-1683)GGG>GAG	p.G561E	RANBP3_uc002mdv.2_Missense_Mutation_p.G280E|RANBP3_uc002mdx.2_Missense_Mutation_p.G556E|RANBP3_uc002mdy.2_Missense_Mutation_p.G493E|RANBP3_uc002mdz.2_Missense_Mutation_p.G488E|RANBP3_uc010duq.2_Missense_Mutation_p.G466E|RANBP3_uc002mea.2_Missense_Mutation_p.G428E|RANBP3_uc010xix.1_Missense_Mutation_p.G433E	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	561					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						GGTCGTCTGCCCGTCCCCTTC	0.706000												
DCAF15	90379	broad.mit.edu	37	19	14069937	14069937	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:14069937C>T	uc002mxt.2	+	7	871	c.865C>T	c.(865-867)CCA>TCA	p.P289S	DCAF15_uc002mxu.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	289										central_nervous_system(1)	1						GCCCCAGAGCCCAGAGCTGCC	0.662000												
ZNF208	7757	broad.mit.edu	37	19	22156505	22156505	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:22156505T>G	uc002nqp.2	-	4	1480	c.1331A>C	c.(1330-1332)AAG>ACG	p.K444T	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTGAATTTTCTTATGTTCCAT	0.373000												
CCNE1	898	broad.mit.edu	37	19	30308420	30308420	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:30308420G>A	uc002nsn.2	+	6	617	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	CCNE1_uc002nso.2_Missense_Mutation_p.R130Q	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	145					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCAAAAATGCGAGCAATTCTT	0.418000												
CHST8	64377	broad.mit.edu	37	19	34263938	34263938	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:34263938C>T	uc002nus.3	+	5	1750	c.1245C>T	c.(1243-1245)AAC>AAT	p.N415N	CHST8_uc002nut.3_Silent_p.N415N|CHST8_uc002nuu.2_Silent_p.N415N	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	415	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					TGATGTTCAACTATTCCAAGC	0.622000												
BCKDHA	593	broad.mit.edu	37	19	41903737	41903737	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:41903737C>T	uc002oqq.2	+	1	34	c.5C>T	c.(4-6)GCG>GTG	p.A2V	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron|EXOSC5_uc002oqo.2_5'Flank|BCKDHA_uc002oqp.1_5'UTR|BCKDHA_uc002oqr.2_Missense_Mutation_p.A2V|BCKDHA_uc010xvz.1_Missense_Mutation_p.A2V	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	2					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GCCAAGATGGCGGTAGCGATC	0.622000												
EML2	24139	broad.mit.edu	37	19	46124767	46124767	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:46124767C>T	uc002pcn.2	-	10	1005	c.970G>A	c.(970-972)GAC>AAC	p.D324N	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.D208N|EML2_uc010xxl.1_Missense_Mutation_p.D471N|EML2_uc010xxm.1_Missense_Mutation_p.D525N|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.D324N|EML2_uc010ekj.2_Silent_p.L290L	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	324	WD 5.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TTGCTGTAGTCAGAACCCCAG	0.697000												
ZNF677	342926	broad.mit.edu	37	19	53741699	53741699	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr19:53741699A>C	uc002qbf.1	-	5	466	c.281T>G	c.(280-282)TTT>TGT	p.F94C	ZNF677_uc002qbg.1_Missense_Mutation_p.F94C	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		CTTGAGGTCAAAATTGTTGAT	0.358000												
CLIP4	79745	broad.mit.edu	37	2	29404701	29404701	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:29404701C>T	uc002rmv.2	+	16	2299	c.2060C>T	c.(2059-2061)CCG>CTG	p.P687L	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	687										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TTAGTTCGACCGAGCAGAGTG	0.423000												
RASGRP3	25780	broad.mit.edu	37	2	33783389	33783389	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:33783389C>A	uc002rox.2	+	17	2318	c.1691C>A	c.(1690-1692)CCC>CAC	p.P564H	RASGRP3_uc010ync.1_Missense_Mutation_p.P564H|RASGRP3_uc002roy.2_Missense_Mutation_p.P563H	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	564					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					CCTGGAAGCCCCTCGCTGCCC	0.557000												
FSHR	2492	broad.mit.edu	37	2	49195912	49195912	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:49195912T>G	uc002rww.2	-	9	853	c.779A>C	c.(778-780)AAG>ACG	p.K260T	FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Missense_Mutation_p.K234T	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	260	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGCGACAAGCTTTTCCAGAGT	0.493000									Gonadal_Dysgenesis_46_XX			
KDM3A	55818	broad.mit.edu	37	2	86712978	86712978	+	Silent	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:86712978T>G	uc002sri.3	+	21	3636	c.3309T>G	c.(3307-3309)GCT>GCG	p.A1103A	KDM3A_uc010ytj.1_Silent_p.A1103A|KDM3A_uc010ytk.1_Silent_p.A1051A	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1103	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						TGTATAATGCTTATGGTAAGG	0.413000												
SCN3A	6328	broad.mit.edu	37	2	166032868	166032868	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:166032868T>C	uc002ucx.2	-	3	529	c.37A>G	c.(37-39)AGC>GGC	p.S13G	SCN3A_uc002ucy.2_Missense_Mutation_p.S13G|SCN3A_uc002ucz.2_Missense_Mutation_p.S13G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	13						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AGGCGGAAGCTTTCAGGTCCT	0.423000												
XIRP2	129446	broad.mit.edu	37	2	168100923	168100923	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:168100923A>C	uc002udx.2	+	8	3039	c.3021A>C	c.(3019-3021)GAA>GAC	p.E1007D	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E832D|XIRP2_uc010fpq.2_Missense_Mutation_p.E785D|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	832					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCCAGCAAGAAGAAATCGTAA	0.378000												
TTN	7273	broad.mit.edu	37	2	179449516	179449516	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:179449516A>G	uc010zfg.1	-	259	57372	c.57148T>C	c.(57148-57150)TCC>CCC	p.S19050P	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S12745P|TTN_uc010zfi.1_Missense_Mutation_p.S12678P|TTN_uc010zfj.1_Missense_Mutation_p.S12553P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19977							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCTGCAGGAAGTTTTTGTG	0.502000												
TTN	7273	broad.mit.edu	37	2	179477622	179477622	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:179477622T>C	uc010zfg.1	-	214	42346	c.42122A>G	c.(42121-42123)CAG>CGG	p.Q14041R	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q7736R|TTN_uc010zfi.1_Missense_Mutation_p.Q7669R|TTN_uc010zfj.1_Missense_Mutation_p.Q7544R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14968							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCAAGTGCTGAGTGGTGGG	0.507000												
TTN	7273	broad.mit.edu	37	2	179640750	179640750	+	Silent	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:179640750A>G	uc010zfg.1	-	28	6065	c.5841T>C	c.(5839-5841)CCT>CCC	p.P1947P	TTN_uc010zfh.1_Silent_p.P1901P|TTN_uc010zfi.1_Silent_p.P1901P|TTN_uc010zfj.1_Silent_p.P1901P|TTN_uc002unb.2_Silent_p.P1947P|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1947							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTGAAACTCAGGCCTTGGTT	0.423000												
ZNF804A	91752	broad.mit.edu	37	2	185802566	185802566	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:185802566A>C	uc002uph.2	+	4	3037	c.2443A>C	c.(2443-2445)AAA>CAA	p.K815Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	815						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						ACGGAGGCGAAAAAGAGGCAG	0.393000												
SPAG16	79582	broad.mit.edu	37	2	215013944	215013944	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr2:215013944C>T	uc002veq.2	+	15	1766	c.1674C>T	c.(1672-1674)ATC>ATT	p.I558I	SPAG16_uc010fuz.1_Silent_p.I409I|SPAG16_uc002ver.2_Silent_p.I504I|SPAG16_uc010zjk.1_Silent_p.I464I	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	558					cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTGTGTCCATCGATATAGGTC	0.388000												
ADAM33	80332	broad.mit.edu	37	20	3653524	3653524	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:3653524G>A	uc002wit.2	-	12	1242	c.1155C>T	c.(1153-1155)TTC>TTT	p.F385F	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.F385F|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Silent_p.F385F|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	385	Extracellular (Potential).|Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						TGCAGGCGCTGAACACGCGCG	0.736000												
SPTLC3	55304	broad.mit.edu	37	20	13098334	13098334	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:13098334A>C	uc002wod.1	+	8	1403	c.1114A>C	c.(1114-1116)AGT>CGT	p.S372R		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	372					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	ATTCACCAAAAGTTTTGGAGC	0.542000												
BPIL3	128859	broad.mit.edu	37	20	31625387	31625387	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:31625387A>G	uc010zuc.1	+	8	689	c.689A>G	c.(688-690)AAG>AGG	p.K230R	BPIL3_uc010zud.1_Missense_Mutation_p.K169R	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	230						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						CAGCAGCAAAAGGGCAAAACC	0.602000												
MMP24	10893	broad.mit.edu	37	20	33842556	33842556	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:33842556C>T	uc002xbu.2	+	4	819	c.816C>T	c.(814-816)GAC>GAT	p.D272D	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	272	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCAACCATGACGGTAAGGCCA	0.557000												
CSE1L	1434	broad.mit.edu	37	20	47679792	47679792	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:47679792T>A	uc002xty.2	+	3	273	c.139T>A	c.(139-141)TTG>ATG	p.L47M	CSE1L_uc010zyg.1_Translation_Start_Site|CSE1L_uc010ghx.2_Missense_Mutation_p.L47M	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	47	Importin N-terminal.				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ACTGTTGCTTTTGACATTACT	0.299000												
CTCFL	140690	broad.mit.edu	37	20	56078626	56078626	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:56078626C>T	uc010gix.1	-	9	2368	c.1706G>A	c.(1705-1707)GGA>GAA	p.G569E	CTCFL_uc010giw.1_Missense_Mutation_p.G569E|CTCFL_uc002xym.2_Missense_Mutation_p.G569E|CTCFL_uc010giz.1_Missense_Mutation_p.G157E|CTCFL_uc010giy.1_Missense_Mutation_p.G239E|CTCFL_uc010gja.1_Missense_Mutation_p.G519E|CTCFL_uc010gjb.1_Missense_Mutation_p.G569E|CTCFL_uc010gjc.1_Missense_Mutation_p.G569E|CTCFL_uc010gjd.1_Missense_Mutation_p.G569E|CTCFL_uc010gje.2_Missense_Mutation_p.G569E|CTCFL_uc010gjf.2_Missense_Mutation_p.G364E|CTCFL_uc010gjg.2_Missense_Mutation_p.G301E|CTCFL_uc010giu.2_RNA|CTCFL_uc010giv.2_RNA	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	569					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTCCCCTGATCCACACTTCTC	0.413000												
OSBPL2	9885	broad.mit.edu	37	20	60859112	60859112	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:60859112C>T	uc002yck.1	+	10	1085	c.883C>T	c.(883-885)CTC>TTC	p.L295F	OSBPL2_uc002ycl.1_Missense_Mutation_p.L283F|OSBPL2_uc011aah.1_Missense_Mutation_p.L203F|OSBPL2_uc002ycm.1_Missense_Mutation_p.L107F	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform	295					lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CAAAAAGAAGCTCTTTATGAT	0.408000												
COL20A1	57642	broad.mit.edu	37	20	61942989	61942989	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:61942989C>T	uc011aau.1	+	13	1652	c.1552C>T	c.(1552-1554)CGG>TGG	p.R518W	COL20A1_uc011aav.1_Missense_Mutation_p.R339W	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	518	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					GCAGGTCGGGCGGCCCGAGGT	0.721000												
MYT1	4661	broad.mit.edu	37	20	62848470	62848470	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:62848470G>A	uc002yii.2	+	11	2046	c.1682G>A	c.(1681-1683)CGG>CAG	p.R561Q	MYT1_uc002yih.2_Missense_Mutation_p.R263Q|MYT1_uc002yij.2_Missense_Mutation_p.R193Q	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	561					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGGAGCTACCGGCCCAACGTG	0.602000												
TMPRSS15	5651	broad.mit.edu	37	21	19666630	19666630	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr21:19666630C>T	uc002ykw.2	-	21	2474	c.2443G>A	c.(2443-2445)GTC>ATC	p.V815I		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	815	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TCACTGCTGACGAGAGATGCG	0.577000												
KRTAP13-3	337960	broad.mit.edu	37	21	31797958	31797958	+	Silent	SNP	A	A	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr21:31797958A>T	uc002yob.1	-	1	273	c.273T>A	c.(271-273)TCT>TCA	p.S91S		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	91	5 X 10 AA approximate repeats.					intermediate filament				ovary(1)|lung(1)	2						TAGTCAGGCAAGAATTGCAGA	0.567000												
TTC3	7267	broad.mit.edu	37	21	38529049	38529049	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr21:38529049T>C	uc002yvz.2	+	28	2938	c.2833T>C	c.(2833-2835)TAT>CAT	p.Y945H	TTC3_uc011aee.1_Missense_Mutation_p.Y635H|TTC3_uc002ywa.2_Missense_Mutation_p.Y945H|TTC3_uc002ywb.2_Missense_Mutation_p.Y945H|TTC3_uc010gnf.2_Missense_Mutation_p.Y710H|TTC3_uc002ywc.2_Missense_Mutation_p.Y635H|TTC3_uc002ywd.1_Missense_Mutation_p.Y9H	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	945					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				GAATGAGAAATATGGTCACAA	0.383000												
COL18A1	80781	broad.mit.edu	37	21	46914475	46914475	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr21:46914475G>A	uc011afs.1	+	26	3635	c.3614G>A	c.(3613-3615)CGA>CAA	p.R1205Q	COL18A1_uc002zhg.2_Missense_Mutation_p.R790Q|COL18A1_uc002zhi.2_Missense_Mutation_p.R970Q	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1205	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCGGGCTTCCGAGGACCCCCG	0.647000												
MYO18B	84700	broad.mit.edu	37	22	26423267	26423267	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:26423267G>A	uc003abz.1	+	43	7577	c.7327G>A	c.(7327-7329)GAC>AAC	p.D2443N	MYO18B_uc003aca.1_Missense_Mutation_p.D2324N|MYO18B_uc010guy.1_Missense_Mutation_p.D2325N|MYO18B_uc010guz.1_Missense_Mutation_p.D2323N|MYO18B_uc011aka.1_Missense_Mutation_p.D1597N|MYO18B_uc011akb.1_Missense_Mutation_p.D1956N|MYO18B_uc010gva.1_Missense_Mutation_p.D426N|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2443						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GGACTTCGATGACTTCCTCCC	0.552000												
CRYBA4	1413	broad.mit.edu	37	22	27019290	27019290	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:27019290G>A	uc003acz.3	+	3	167	c.132G>A	c.(130-132)GTG>GTA	p.V44V		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	44	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						TCGAGACTGTGCGATCTTTGA	0.607000												
NEFH	4744	broad.mit.edu	37	22	29885531	29885531	+	Silent	SNP	C	C	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:29885531C>A	uc003afo.2	+	4	1973	c.1902C>A	c.(1900-1902)TCC>TCA	p.S634S	NEFH_uc003afp.2_Intron	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	634	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|12.|Tail.				cell death|nervous system development	neurofilament					0						AGGTCAAGTCCCCGGAAAAGG	0.458000												
TMPRSS6	164656	broad.mit.edu	37	22	37462911	37462911	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:37462911G>A	uc003aqs.1	-	17	2346	c.2232C>T	c.(2230-2232)CGC>CGT	p.R744R	TMPRSS6_uc003aqt.1_Silent_p.R757R	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	744	Peptidase S1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CACACAGCATGCGTGGCGTCA	0.612000												
SUN2	25777	broad.mit.edu	37	22	39148610	39148610	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:39148610G>A	uc003awh.1	-	3	308	c.24C>T	c.(22-24)CTC>CTT	p.L8L	SUN2_uc011anz.1_Silent_p.L43L|SUN2_uc011aoa.1_Silent_p.L43L|SUN2_uc003awi.1_Silent_p.L8L|SUN2_uc010gxq.1_Silent_p.L8L|SUN2_uc010gxr.1_Silent_p.L8L|SUN2_uc010gxs.1_Silent_p.L8L	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	8	Nuclear.|Ser-rich.|LMNA-binding (By similarity).				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						AGTAGCGCGTGAGGCGCTGGC	0.597000												
MPPED1	758	broad.mit.edu	37	22	43898608	43898608	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr22:43898608G>A	uc011apv.1	+	6	1056	c.833G>A	c.(832-834)CGG>CAG	p.R278Q	MPPED1_uc011apw.1_Missense_Mutation_p.R172Q|MPPED1_uc011apx.1_Missense_Mutation_p.R120Q|MPPED1_uc011apy.1_Missense_Mutation_p.R278Q|MPPED1_uc011apz.1_Missense_Mutation_p.R311Q	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	278							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTCCAGCCGCGGTTACATGTC	0.632000												
ZNF385D	79750	broad.mit.edu	37	3	21552434	21552434	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:21552434A>G	uc003cce.2	-	4	766	c.358T>C	c.(358-360)TCT>CCT	p.S120P	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	120						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GCAGTTACAGATTTCTGCTTA	0.448000												
ZNF197	10168	broad.mit.edu	37	3	44684845	44684845	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:44684845G>A	uc003cnm.2	+	6	2429	c.2223G>A	c.(2221-2223)AAG>AAA	p.K741K	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	741	C2H2-type 14.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATTGTGGGAAGGCTTTCAGTT	0.423000												
FYCO1	79443	broad.mit.edu	37	3	46016798	46016798	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:46016798A>G	uc003cpb.3	-	5	534	c.328T>C	c.(328-330)TAC>CAC	p.Y110H	FYCO1_uc011bal.1_Missense_Mutation_p.Y110H	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	110	RUN.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ACCAAGGAGTAGCGAATAAAT	0.488000												
TLR9	54106	broad.mit.edu	37	3	52255257	52255257	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:52255257G>A	uc003dda.1	-	2	3709	c.3075C>T	c.(3073-3075)TTC>TTT	p.F1025F	TLR9_uc003ddb.2_Silent_p.F1122F	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	1025	Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTCCCTGGCAGAAGTTCCGGT	0.602000												
CNTN3	5067	broad.mit.edu	37	3	74349082	74349082	+	Silent	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:74349082T>C	uc003dpm.1	-	16	2183	c.2103A>G	c.(2101-2103)GAA>GAG	p.E701E		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	701	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGGAGGCACTTCTGGAACTA	0.388000												
TRIM42	287015	broad.mit.edu	37	3	140401645	140401645	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:140401645G>A	uc003eto.1	+	2	874	c.683G>A	c.(682-684)CGC>CAC	p.R228H		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	228						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CTCAAGTGGCGCTTTGACCGC	0.617000												
BCHE	590	broad.mit.edu	37	3	165548524	165548524	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:165548524T>G	uc003fem.3	-	2	458	c.298A>C	c.(298-300)AGT>CGT	p.S100R	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	100					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCTGGAAAACTTTGATCTATG	0.403000												
RTP2	344892	broad.mit.edu	37	3	187416376	187416376	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr3:187416376G>T	uc003fro.1	-	2	1017	c.588C>A	c.(586-588)TTC>TTA	p.F196L		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	196	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GAAGAGACAAGAAGTTGTAGC	0.582000												
PPARGC1A	10891	broad.mit.edu	37	4	23816032	23816032	+	Silent	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:23816032G>C	uc003gqs.2	-	8	1194	c.1074C>G	c.(1072-1074)CTC>CTG	p.L358L	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	358					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				AGGACTTGCTGAGTTGTGCAT	0.512000												
KCTD8	386617	broad.mit.edu	37	4	44449793	44449793	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:44449793C>T	uc003gwu.2	-	1	1032	c.748G>A	c.(748-750)GAC>AAC	p.D250N		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	250						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						TTGAGCGTGTCCCCGAAGACC	0.647000										HNSCC(17;0.042)		
GABRA4	2557	broad.mit.edu	37	4	46979472	46979472	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:46979472T>G	uc003gxg.2	-	4	588	c.449A>C	c.(448-450)AAG>ACG	p.K150T		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	150	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTAAAAAGCTTATTTGGAGC	0.254000												
CSN3	1448	broad.mit.edu	37	4	71115170	71115170	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:71115170G>A	uc003hfe.3	+	4	601	c.543G>A	c.(541-543)ACG>ACA	p.T181T		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	181				TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence).		extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						CTCCACCTACGGCATAAAAAC	0.413000												
PPBP	5473	broad.mit.edu	37	4	74853743	74853743	+	Silent	SNP	C	C	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:74853743C>G	uc003hhj.2	-	1	158	c.78G>C	c.(76-78)CTG>CTC	p.L26L		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	26					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GCAGCAATGACAGAAGCAGCA	0.527000												
THAP9	79725	broad.mit.edu	37	4	83840057	83840057	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:83840057G>A	uc003hnt.2	+	5	2811	c.2692G>A	c.(2692-2694)GAT>AAT	p.D898N	THAP9_uc003hns.1_Missense_Mutation_p.D754N|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.D615N	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	898							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				GCTAAGTAACGATGGATATCC	0.269000												
C4orf37	285555	broad.mit.edu	37	4	98761987	98761987	+	Silent	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:98761987T>G	uc003htt.1	-	9	1231	c.1141A>C	c.(1141-1143)AGA>CGA	p.R381R		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	381											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GCATGTTTTCTTTTAGCCACT	0.413000												
KIAA1109	84162	broad.mit.edu	37	4	123170768	123170768	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:123170768A>G	uc003ieh.2	+	34	5686	c.5641A>G	c.(5641-5643)ATA>GTA	p.I1881V	KIAA1109_uc003iek.2_Missense_Mutation_p.I500V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1881					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGTAACTCGAATAGGTCCCAG	0.353000												
ZFP42	132625	broad.mit.edu	37	4	188924770	188924770	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:188924770C>T	uc003izg.1	+	3	1054	c.809C>T	c.(808-810)ACG>ATG	p.T270M	ZFP42_uc003izh.1_Missense_Mutation_p.T270M|ZFP42_uc003izi.1_Missense_Mutation_p.T270M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	270					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CGCATCCACACGGGGGAGAAA	0.498000												
TRIML2	205860	broad.mit.edu	37	4	189022224	189022224	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr4:189022224G>T	uc003izl.2	-	3	352	c.316C>A	c.(316-318)CAG>AAG	p.Q106K	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.Q156K|TRIML2_uc011clf.1_Missense_Mutation_p.Q156K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	106	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGCATTTCCTGGAACATCTCC	0.403000												
SPEF2	79925	broad.mit.edu	37	5	35753812	35753812	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:35753812G>T	uc003jjo.2	+	24	3528	c.3417G>T	c.(3415-3417)TGG>TGT	p.W1139C	SPEF2_uc003jjp.1_Missense_Mutation_p.W625C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1139					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGAGAGCTGGTTACAGGACA	0.502000												
GPR98	84059	broad.mit.edu	37	5	89990008	89990008	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:89990008T>C	uc003kju.2	+	33	7531	c.7435T>C	c.(7435-7437)TTC>CTC	p.F2479L	GPR98_uc003kjt.2_Missense_Mutation_p.F185L|GPR98_uc003kjv.2_Missense_Mutation_p.F79L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2479	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAATTCAGACTTCTGGACCTA	0.493000												
PCDHA11	56138	broad.mit.edu	37	5	140250309	140250309	+	Missense_Mutation	SNP	G	G	A	rs140203389	by1000genomes	TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:140250309G>A	uc003lia.2	+	1	2479	c.1621G>A	c.(1621-1623)GTG>ATG	p.V541M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V541M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	541	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGCGGGCGTGCCGCCTCT	0.687000												
PCDHB3	56132	broad.mit.edu	37	5	140481632	140481632	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:140481632G>T	uc003lio.2	+	1	1399	c.1399G>T	c.(1399-1401)GCC>TCC	p.A467S	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	467	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.622000												
G3BP1	10146	broad.mit.edu	37	5	151183481	151183481	+	Silent	SNP	C	C	T	rs144577510	byFrequency	TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:151183481C>T	uc003lun.2	+	12	1401	c.1230C>T	c.(1228-1230)GTC>GTT	p.V410V	G3BP1_uc003lum.2_Silent_p.V410V|G3BP1_uc011dcu.1_Silent_p.V228V|G3BP1_uc010jhz.2_Silent_p.V228V|G3BP1_uc003luq.2_Silent_p.V78V	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	410	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTCTGAATGTCGAAGAGAAGA	0.527000												
GRIA1	2890	broad.mit.edu	37	5	153190744	153190744	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:153190744A>T	uc003lva.3	+	16	3045	c.2680A>T	c.(2680-2682)AGC>TGC	p.S894C	GRIA1_uc003luy.3_Missense_Mutation_p.S894C|GRIA1_uc003luz.3_Missense_Mutation_p.S799C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.S814C|GRIA1_uc011dcx.1_Missense_Mutation_p.S825C|GRIA1_uc011dcy.1_Missense_Mutation_p.S904C|GRIA1_uc011dcz.1_Missense_Mutation_p.S904C	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	894	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCCTTGCATGAGCCACAGTTC	0.627000												
HK3	3101	broad.mit.edu	37	5	176308331	176308331	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:176308331C>T	uc003mfa.2	-	18	2691	c.2599G>A	c.(2599-2601)GAT>AAT	p.D867N	HK3_uc003mez.2_Missense_Mutation_p.D423N	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	867	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGTTCCATCCACCCCCACA	0.687000												
ZNF354A	6940	broad.mit.edu	37	5	178154048	178154048	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:178154048A>C	uc003mjj.2	-	3	310	c.112T>G	c.(112-114)TTG>GTG	p.L38V		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	38	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TCCCGGTACAAGTTTCTCTGA	0.473000												
ZNF454	285676	broad.mit.edu	37	5	178392722	178392722	+	Silent	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:178392722T>G	uc003mjo.1	+	5	1588	c.1317T>G	c.(1315-1317)CCT>CCG	p.P439P	ZNF454_uc010jkz.1_Silent_p.P439P	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GGGAAAAACCTTATACATGTA	0.403000												
HDGFL1	154150	broad.mit.edu	37	6	22569833	22569833	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:22569833A>T	uc003nds.2	+	1	156	c.29A>T	c.(28-30)AAG>ATG	p.K10M		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	10											0	Ovarian(93;0.163)					CCCATGTACAAGAGCGGGGAC	0.617000												
OR5V1	81696	broad.mit.edu	37	6	29323304	29323304	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:29323304G>A	uc011dlo.1	-	1	751	c.669C>T	c.(667-669)TCC>TCT	p.S223S		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						TCAAGATGGTGGAGATTATGC	0.473000												
POLH	5429	broad.mit.edu	37	6	43571749	43571749	+	Splice_Site	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:43571749G>C	uc003ovq.3	+	7	1188	c.884_splice	c.e7+1	p.G295_splice	POLH_uc010jyu.2_Splice_Site_p.G171_splice|POLH_uc011dvl.1_Splice_Site|POLH_uc003ovr.3_Splice_Site_p.G196_splice	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta						DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGAAGAATGGGTAAGTGATTC	0.378000								DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum			
TBX18	9096	broad.mit.edu	37	6	85448259	85448259	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:85448259A>G	uc003pkl.1	-	7	1055	c.1055T>C	c.(1054-1056)CTA>CCA	p.L352P	TBX18_uc010kbq.1_Missense_Mutation_p.L194P	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	352					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGAGTCCGTAGTGATGGTCG	0.463000												
SYNE1	23345	broad.mit.edu	37	6	152651961	152651961	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:152651961A>C	uc010kiw.2	-	78	14461	c.13859T>G	c.(13858-13860)CTT>CGT	p.L4620R	SYNE1_uc003qot.3_Missense_Mutation_p.L4549R|SYNE1_uc003qou.3_Missense_Mutation_p.L4620R|SYNE1_uc010kiz.2_Missense_Mutation_p.L375R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4620	Cytoplasmic (Potential).				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)		CTGCAGCGTAAGTAGAAGATT	0.388000										HNSCC(10;0.0054)		
VIP	7432	broad.mit.edu	37	6	153078245	153078245	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:153078245C>G	uc003qpe.2	+	6	654	c.482C>G	c.(481-483)TCT>TGT	p.S161C	VIP_uc003qpf.2_Missense_Mutation_p.S160C|VIP_uc010kjd.2_Missense_Mutation_p.S159C	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	161					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GAGGGAGAATCTCCCGACTTT	0.408000												
RBM16	22828	broad.mit.edu	37	6	155139625	155139625	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr6:155139625C>T	uc003qqa.2	+	15	1766	c.1534C>T	c.(1534-1536)CGG>TGG	p.R512W	RBM16_uc011efj.1_Missense_Mutation_p.R578W|RBM16_uc011efk.1_Missense_Mutation_p.R557W|RBM16_uc003qpz.2_Missense_Mutation_p.R512W|RBM16_uc010kji.2_Missense_Mutation_p.R533W	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	512	RRM.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		GATTCCTCCCCGGGGCTGTGC	0.353000												
GRM3	2913	broad.mit.edu	37	7	86415890	86415890	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:86415890G>A	uc003uid.2	+	3	1881	c.782G>A	c.(781-783)CGA>CAA	p.R261Q	GRM3_uc010lef.2_Missense_Mutation_p.R259Q|GRM3_uc010leg.2_Missense_Mutation_p.R133Q|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	261	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCGTGATCCGAGAACTGTTG	0.652000												
KIAA1324L	222223	broad.mit.edu	37	7	86541447	86541447	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:86541447A>C	uc011kha.1	-	15	2295	c.2110T>G	c.(2110-2112)TTC>GTC	p.F704V	KIAA1324L_uc003uif.1_Missense_Mutation_p.F464V|KIAA1324L_uc011kgz.1_Missense_Mutation_p.F590V|KIAA1324L_uc003uie.2_Missense_Mutation_p.F537V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	704	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					TTGGAGGTGAAGCTGGGGCCA	0.413000												
ZNF804B	219578	broad.mit.edu	37	7	88963199	88963199	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:88963199A>C	uc011khi.1	+	4	1441	c.903A>C	c.(901-903)AAA>AAC	p.K301N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	301						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)			TAAACTCTAAAATTTTGCAAG	0.343000										HNSCC(36;0.09)		
ZNF804B	219578	broad.mit.edu	37	7	88963252	88963252	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:88963252G>A	uc011khi.1	+	4	1494	c.956G>A	c.(955-957)GGC>GAC	p.G319D		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	319						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)			GATTCAATTGGCATTCATGCT	0.338000										HNSCC(36;0.09)		
COL1A2	1278	broad.mit.edu	37	7	94058685	94058685	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:94058685A>C	uc003ung.1	+	51	4368	c.3897A>C	c.(3895-3897)GAA>GAC	p.E1299D	COL1A2_uc011kib.1_Missense_Mutation_p.E151D	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1299	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATGATGTTGAACTTGTTGCTG	0.443000										HNSCC(75;0.22)		
DOCK4	9732	broad.mit.edu	37	7	111381267	111381267	+	Silent	SNP	C	C	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:111381267C>T	uc003vfx.2	-	46	5165	c.4896G>A	c.(4894-4896)CCG>CCA	p.P1632P	DOCK4_uc011kml.1_Silent_p.P513P|DOCK4_uc011kmm.1_Silent_p.P539P|DOCK4_uc003vfw.2_Silent_p.P1082P|DOCK4_uc003vfy.2_Silent_p.P1677P|DOCK4_uc003vfv.2_5'Flank	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1632					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				GGTAACTTAACGGGCTGTTTC	0.418000												
CLEC5A	23601	broad.mit.edu	37	7	141643744	141643744	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr7:141643744T>G	uc003vwv.1	-	4	357	c.160A>C	c.(160-162)AGT>CGT	p.S54R	CLEC5A_uc011krm.1_Intron|CLEC5A_uc003vww.1_Missense_Mutation_p.S54R|CLEC5A_uc010lnq.1_Intron|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	C-type lectin, superfamily member 5	54	Extracellular (Potential).				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity				0	Melanoma(164;0.0171)					CTTGGGGAACTGCTCCCAAAA	0.438000												
CSMD1	64478	broad.mit.edu	37	8	3087592	3087592	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:3087592A>C	uc011kwk.1	-	27	4708	c.4318T>G	c.(4318-4320)TTT>GTT	p.F1440V	CSMD1_uc011kwj.1_Missense_Mutation_p.F832V|CSMD1_uc003wqe.2_Missense_Mutation_p.F596V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1440	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTTGCCAAAAGAACCGGTTA	0.473000												
CYP7B1	9420	broad.mit.edu	37	8	65509467	65509467	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:65509467A>C	uc003xvj.2	-	6	1457	c.1253T>G	c.(1252-1254)TTT>TGT	p.F418C		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	418					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATCTTCTATAAAACGATCATA	0.358000												
PREX2	80243	broad.mit.edu	37	8	69046425	69046425	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:69046425A>C	uc003xxv.1	+	32	3925	c.3898A>C	c.(3898-3900)ACT>CCT	p.T1300P		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1300					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TGAGATGGAAACTTGGGAAGC	0.488000												
WWP1	11059	broad.mit.edu	37	8	87473501	87473501	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:87473501G>C	uc003ydt.2	+	23	2828	c.2548G>C	c.(2548-2550)GTC>CTC	p.V850L		NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	850	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						ATTGCAGTTCGTCACTGGAAC	0.343000												
PKHD1L1	93035	broad.mit.edu	37	8	110451303	110451303	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:110451303G>C	uc003yne.2	+	32	4042	c.3938G>C	c.(3937-3939)TGG>TCG	p.W1313S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1313	Extracellular (Potential).|IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAGAAACTGGGGTTTTGCA	0.398000										HNSCC(38;0.096)		
TRPS1	7227	broad.mit.edu	37	8	116632071	116632071	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:116632071T>G	uc003ynz.2	-	2	674	c.215A>C	c.(214-216)AAG>ACG	p.K72T	TRPS1_uc011lhy.1_Missense_Mutation_p.K76T|TRPS1_uc003yny.2_Missense_Mutation_p.K85T|TRPS1_uc010mcy.2_Missense_Mutation_p.K72T	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	72					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAAGTCCTTCTTACTGCTAGA	0.448000									Langer-Giedion_syndrome			
COL14A1	7373	broad.mit.edu	37	8	121222071	121222071	+	Silent	SNP	G	G	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:121222071G>T	uc003yox.2	+	12	1663	c.1398G>T	c.(1396-1398)GTG>GTT	p.V466V	COL14A1_uc003yoy.2_Silent_p.V144V|COL14A1_uc010mde.1_Silent_p.V144V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	466	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGGATGCAGTGCCTGGGGCCT	0.473000												
PLEC	5339	broad.mit.edu	37	8	145002133	145002133	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:145002133G>A	uc003zaf.1	-	26	3869	c.3699C>T	c.(3697-3699)CGC>CGT	p.R1233R	PLEC_uc003zab.1_Silent_p.R1096R|PLEC_uc003zac.1_Silent_p.R1100R|PLEC_uc003zad.2_Silent_p.R1096R|PLEC_uc003zae.1_Silent_p.R1064R|PLEC_uc003zag.1_Silent_p.R1074R|PLEC_uc003zah.2_Silent_p.R1082R|PLEC_uc003zaj.2_Silent_p.R1123R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1233	Globular 1.				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						CCTGCGTGCCGCGGATCACCA	0.687000												
VPS13A	23230	broad.mit.edu	37	9	79842333	79842333	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr9:79842333G>A	uc004akr.2	+	16	1644	c.1384G>A	c.(1384-1386)GAA>AAA	p.E462K	VPS13A_uc004akp.3_Missense_Mutation_p.E462K|VPS13A_uc004akq.3_Missense_Mutation_p.E462K|VPS13A_uc004aks.2_Missense_Mutation_p.E462K	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	462					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GACACCTGAAGAAAAAGCTTT	0.303000												
PSAT1	29968	broad.mit.edu	37	9	80919766	80919766	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr9:80919766G>A	uc004ala.2	+	4	375	c.307G>A	c.(307-309)GTG>ATG	p.V103M	PSAT1_uc004alb.2_Missense_Mutation_p.V103M	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	103					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TGACTATGTGGTGACAGGAGC	0.473000												
PTCHD1	139411	broad.mit.edu	37	X	23411256	23411256	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:23411256T>C	uc004dal.3	+	3	1629	c.1621T>C	c.(1621-1623)TAC>CAC	p.Y541H		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	541					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						AACCATTGAGTACACTACTGC	0.408000												
CXorf22	170063	broad.mit.edu	37	X	35971836	35971836	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:35971836A>G	uc004ddj.2	+	7	1233	c.1174A>G	c.(1174-1176)AGT>GGT	p.S392G	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	392										large_intestine(1)|lung(1)|ovary(1)	3						AACCATCAAAAGTAAGTGTGA	0.294000												
TRO	7216	broad.mit.edu	37	X	54953054	54953054	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:54953054C>A	uc004dtq.2	+	9	1803	c.1696C>A	c.(1696-1698)CCT>ACT	p.P566T	TRO_uc004dts.2_Missense_Mutation_p.P566T|TRO_uc004dtr.2_Missense_Mutation_p.P566T|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.P169T|TRO_uc011mok.1_Missense_Mutation_p.P97T|TRO_uc004dtw.2_Missense_Mutation_p.P169T|TRO_uc004dtx.2_5'UTR	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	566	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GGGGCTGCGCCCTGGGTATGA	0.577000												
MTMR8	55613	broad.mit.edu	37	X	63569939	63569939	+	Silent	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:63569939G>C	uc004dvs.2	-	5	548	c.480C>G	c.(478-480)ACC>ACG	p.T160T	MTMR8_uc011mou.1_Silent_p.T160T|MTMR8_uc004dvt.1_Silent_p.T160T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	160	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						CAGGAGGGTAGGTGCTGCATA	0.348000												
NAP1L2	4674	broad.mit.edu	37	X	72433060	72433060	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:72433060T>G	uc004ebi.2	-	1	1625	c.1269A>C	c.(1267-1269)GAA>GAC	p.E423D	NAP1L2_uc011mqj.1_Missense_Mutation_p.E281D	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	423					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					CATCATTAACTTCTCTAACTA	0.348000												
KIAA2022	340533	broad.mit.edu	37	X	73959940	73959940	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:73959940T>G	uc004eby.2	-	3	5069	c.4452A>C	c.(4450-4452)AAA>AAC	p.K1484N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1484					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						ATTACCTCAGTTTTTCAAAAG	0.478000												
KIAA2022	340533	broad.mit.edu	37	X	73962104	73962104	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:73962104A>C	uc004eby.2	-	3	2905	c.2288T>G	c.(2287-2289)GTT>GGT	p.V763G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	763					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CCCAGGAATAACTTCATTCTT	0.413000												
DCAF12L1	139170	broad.mit.edu	37	X	125685428	125685428	+	Silent	SNP	G	G	A			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:125685428G>A	uc004eul.2	-	1	1415	c.1164C>T	c.(1162-1164)TCC>TCT	p.S388S		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	388										skin(3)|ovary(1)	4						CCAGGGTGGCGGAGGCTCTTT	0.582000												
MAGEC3	139081	broad.mit.edu	37	X	140953339	140953339	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chrX:140953339G>C	uc011mwp.1	+	2	206	c.206G>C	c.(205-207)GGA>GCA	p.G69A		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	69										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGGGTGGAACTTCAGAT	0.493000												
LEPROTL1	23484	broad.mit.edu	37	8	29961840	29961841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:29961840_29961841insT	uc003xhw.3	+	3	224_225	c.117_118insT	c.(115-120)CTATTTfs	p.L39fs	LEPROTL1_uc003xhx.2_Frame_Shift_Ins_p.L39fs	NM_015344	NP_056159	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	39_40	Helical; (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TCTTTGTTCTATTTTTTTACAT	0.322												
CDC42BPA	8476	broad.mit.edu	37	1	227222430	227222430	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr1:227222429_227222429GT>G	uc001hqr.3	-	24	4241	c.3298_3298AC>C	c.(3298-3300)ctcfs	p.L1100fs	CDC42BPA_uc001hqq.3_Frame_Shift_Del_p.L399fs|CDC42BPA_uc001hqs.3_Frame_Shift_Del_p.L1019fs|CDC42BPA_uc009xes.3_Frame_Shift_Del_p.L1072fs|CDC42BPA_uc010pvs.2_Frame_Shift_Del_p.L1080fs|CDC42BPA_uc001hqp.3_Frame_Shift_Del_p.L256fs|CDC42BPA_uc001hqt.2_5'UTR|CDC42BPA_uc001hqu.1_Frame_Shift_Del_p.L307fs	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1113	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TACAGAAAGAGTTTGAAGTCA	0.403												
C5orf24	134553	broad.mit.edu	37	5	134190974	134190974	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr5:134190973_134190973CA>C	uc003kzx.3	+	1	444	c.383_383CA>C	c.(382-384)acafs	p.T128fs	C5orf24_uc003kzy.4_Frame_Shift_Del_p.T128fs|C5orf24_uc003kzz.3_Frame_Shift_Del_p.T128fs|C5orf24_uc021yds.1_Frame_Shift_Del_p.T128fs	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	Homo sapiens chromosome 5 open reading frame 24 (C5orf24), transcript variant 2, mRNA.	128										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTTGGGGACAACTAAAGCT	0.542												
LEPROTL1	23484	broad.mit.edu	37	8	29961841	29961842	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr8:29961840_29961841A>AT	uc003xhx.2	+	2	224_225	c.117_118A>AT	c.(115-120)ctatttfs	p.L39fs	MIR548O2_uc022atm.1_Intron|LEPROTL1_uc003xhw.4_Frame_Shift_Ins_p.L39fs	NM_001128208	NP_001121680	O95214	LERL1_HUMAN	Homo sapiens leptin receptor overlapping transcript-like 1 (LEPROTL1), transcript variant 2, mRNA.	39						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TCTTTGTTCTATTTTTTTACAT	0.322												
NSFL1C	55968	broad.mit.edu	37	20	1426465	1426466	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A487-01A-21D-A24D-08	TCGA-CD-A487-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2697d19-16d0-4862-8b7f-14614f30a796	de4f77ac-9ca4-4202-bf11-9c418ac9befa	g.chr20:1426464_1426465T>TG	uc002wfc.3	-	7	1664_1665	c.796_797A>CA	c.(796-798)cagfs	p.Q266fs	NSFL1C_uc021vzq.1_Frame_Shift_Ins_p.Q152fs|NSFL1C_uc002wfe.3_Frame_Shift_Ins_p.Q235fs	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	266						Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.510												
