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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
LOXL4	84171	broad.mit.edu	37	10	100013452	100013452	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:100013452G>A	uc001kpa.1	-	c.1693C>T	c.(1693-1695)CTC>TTC	p.L565F		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	565	Lysyl-oxidase like.				oxidation-reduction process	extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)	4		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)										0.147059	8.757104	12.822293	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100013452	100013452	9275	10	G	A	A	A	455	35	LOXL4	2	2
PSD	5662	broad.mit.edu	37	10	104173681	104173681	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104173681C>T	uc001kvg.1	-	c.1398G>A	c.(1396-1398)CCG>CCA	p.P466P	PSD_uc001kvh.1_Silent_p.P87P|PSD_uc009xxd.1_Silent_p.P466P	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	466	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)										0.130435	4.314114	7.365492	3	20	KEEP	---	---	---	---	capture		Silent	SNP	104173681	104173681	13099	10	C	T	T	T	288	23	PSD	1	1
IKZF5	64376	broad.mit.edu	37	10	124753876	124753876	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124753876T>C	uc001lha.2	-	c.680A>G	c.(679-681)TAT>TGT	p.Y227C	IKZF5_uc001lgz.2_Missense_Mutation_p.Y65C	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)										0.174242	55.149082	68.361667	23	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124753876	124753876	7919	10	T	C	C	C	637	49	IKZF5	4	4
CPXM2	119587	broad.mit.edu	37	10	125539747	125539747	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:125539747C>T	uc001lhk.1	-	c.914G>A	c.(913-915)CGG>CAG	p.R305Q	CPXM2_uc001lhj.2_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	305					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)										0.271429	54.205336	57.495791	19	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125539747	125539747	3977	10	C	T	T	T	299	23	CPXM2	1	1
PTPRE	5791	broad.mit.edu	37	10	129861400	129861400	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129861400T>C	uc009yat.2	+	c.712T>C	c.(712-714)TCT>CCT	p.S238P	PTPRE_uc001lkb.2_Missense_Mutation_p.S227P|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Missense_Mutation_p.S227P|PTPRE_uc001lkd.2_Missense_Mutation_p.S169P|PTPRE_uc010quq.1_Missense_Mutation_p.S128P	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	227	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				Colon(52;977 1184 20575 41685)								0.25	35.453262	38.405325	13	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129861400	129861400	13257	10	T	C	C	C	754	58	PTPRE	4	4
MYOF	26509	broad.mit.edu	37	10	95162103	95162103	+	Silent	SNP	G	A	A	rs78215814	by1000genomes	TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95162103G>A	uc001kin.2	-	c.876C>T	c.(874-876)GGC>GGT	p.G292G	MYOF_uc001kio.2_Silent_p.G292G|MYOF_uc001kip.3_Silent_p.G292G|MYOF_uc009xuf.2_Silent_p.G274G	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	292	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.189655	20.597251	25.819257	11	47	KEEP	---	---	---	---	capture		Silent	SNP	95162103	95162103	10484	10	G	A	A	A	535	42	MYOF	2	2
ABCC8	6833	broad.mit.edu	37	11	17464266	17464266	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17464266C>T	uc001mnc.2	-	c.1630_splice	c.e10+1	p.I544_splice	ABCC8_uc010rcy.1_Splice_Site_SNP_p.I543_splice	NM_000352	NP_000343			ATP-binding cassette, sub-family C, member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)									0.193548	27.462469	32.897563	12	50	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	17464266	17464266	59	11	C	T	T	T	260	20	ABCC8	5	2
ANO5	203859	broad.mit.edu	37	11	22248895	22248895	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22248895G>C	uc001mqi.2	+	c.411G>C	c.(409-411)TGG>TGC	p.W137C	ANO5_uc001mqj.2_Missense_Mutation_p.W136C	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	137	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4														0.075758	-6.442893	17.914763	10	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22248895	22248895	708	11	G	C	C	C	559	43	ANO5	3	3
OR51I2	390064	broad.mit.edu	37	11	5475386	5475386	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5475386G>A	uc010qzf.1	+	c.668G>A	c.(667-669)CGT>CAT	p.R223H	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.141667	27.356138	42.165899	17	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5475386	5475386	11511	11	G	A	A	A	520	40	OR51I2	1	1
OR4C15	81309	broad.mit.edu	37	11	55322168	55322168	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55322168T>C	uc010rig.1	+	c.386T>C	c.(385-387)GTC>GCC	p.V129A		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.05	-24.650812	18.565469	10	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55322168	55322168	11454	11	T	C	C	C	754	58	OR4C15	4	4
OR52B2	255725	broad.mit.edu	37	11	6191530	6191530	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6191530G>A	uc010qzy.1	-	c.27C>T	c.(25-27)TTC>TTT	p.F9F		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		NSCLC(5;186 261 1778 7098 14207)								0.091603	4.516619	26.520359	12	119	KEEP	---	---	---	---	capture		Silent	SNP	6191530	6191530	11521	11	G	A	A	A	529	41	OR52B2	2	2
TRIM3	10612	broad.mit.edu	37	11	6477334	6477334	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6477334C>T	uc001mdh.2	-	c.1501G>A	c.(1501-1503)GTG>ATG	p.V501M	TRIM3_uc001mdi.2_Missense_Mutation_p.V501M|TRIM3_uc010raj.1_Missense_Mutation_p.V382M|TRIM3_uc009yfd.2_Missense_Mutation_p.V501M|TRIM3_uc010rak.1_Missense_Mutation_p.V501M	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	501	NHL 1.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Melanoma(6;5 510 1540 25169 29084)								0.142857	9.797675	16.659935	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6477334	6477334	17048	11	C	T	T	T	247	19	TRIM3	1	1
NAALAD2	10003	broad.mit.edu	37	11	89896721	89896721	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89896721C>A	uc001pdf.3	+	c.1214C>A	c.(1213-1215)ACT>AAT	p.T405N	NAALAD2_uc009yvx.2_Missense_Mutation_p.T372N|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.T312N	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	405	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.175	13.916559	17.889349	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89896721	89896721	10523	11	C	A	A	A	260	20	NAALAD2	2	2
FAT3	120114	broad.mit.edu	37	11	92534203	92534203	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92534203C>T	uc001pdj.3	+	c.8024C>T	c.(8023-8025)TCG>TTG	p.S2675L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2675	Cadherin 24.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.1	3.106866	7.897372	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92534203	92534203	5927	11	C	T	T	T	403	31	FAT3	1	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398284C>G	uc001rgp.1	-	c.35G>C	c.(34-36)GGT>GCT	p.G12A	KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(6894)|p.G12V(4601)|p.G12A(1119)|p.G12?(50)|p.G12F(33)|p.G12N(6)|p.G12L(5)|p.G12C(4)|p.G12I(3)|p.G12W(3)|p.G12E(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12S(1)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.25	7.918855	8.600825	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398284	25398284	8753	12	C	G	G	G	234	18	KRAS	3	3
CAPRIN2	65981	broad.mit.edu	37	12	30863357	30863357	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:30863357C>T	uc001rji.1	-	c.2863G>A	c.(2863-2865)GAA>AAA	p.E955K	CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.E622K|CAPRIN2_uc001rjh.1_Missense_Mutation_p.E905K|CAPRIN2_uc001rjj.1_Missense_Mutation_p.E621K|CAPRIN2_uc001rjk.3_3'UTR|CAPRIN2_uc001rjl.3_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	955					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.190114	110.326034	133.91795	50	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30863357	30863357	2755	12	C	T	T	T	403	31	CAPRIN2	1	1
SCN8A	6334	broad.mit.edu	37	12	52201020	52201020	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52201020G>T	uc001ryw.2	+	c.5750G>T	c.(5749-5751)TGC>TTC	p.C1917F		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1917	IQ.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier|voltage-gated sodium channel complex	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)									0.17	30.524217	40.821301	17	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52201020	52201020	14406	12	G	T	T	T	598	46	SCN8A	2	2
KRT6C	286887	broad.mit.edu	37	12	52865969	52865969	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52865969C>T	uc001sal.3	-	c.636G>A	c.(634-636)CCG>CCA	p.P212P		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	212	Rod.|Linker 1.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)										0.207547	24.896589	29.096731	11	42	KEEP	---	---	---	---	capture		Silent	SNP	52865969	52865969	8797	12	C	T	T	T	236	19	KRT6C	1	1
LRP1	4035	broad.mit.edu	37	12	57593171	57593171	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57593171C>T	uc001snd.2	+	c.9853C>T	c.(9853-9855)CGC>TGC	p.R3285C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3285	Extracellular (Potential).				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.156863	12.916674	18.607878	8	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57593171	57593171	9324	12	C	T	T	T	351	27	LRP1	1	1
KBTBD6	89890	broad.mit.edu	37	13	41705374	41705374	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:41705374C>T	uc001uxu.1	-	c.1274G>A	c.(1273-1275)CGT>CAT	p.R425H	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.R359H	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	425	Kelch 1.						protein binding			ovary(1)	1		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)										0.138686	29.442072	46.723385	19	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41705374	41705374	8302	13	C	T	T	T	247	19	KBTBD6	1	1
SLITRK6	84189	broad.mit.edu	37	13	86370440	86370440	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:86370440T>A	uc001vll.1	-	c.204A>T	c.(202-204)CAA>CAT	p.Q68H	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	68	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)										0.12766	17.136041	29.839422	12	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86370440	86370440	15245	13	T	A	A	A	777	60	SLITRK6	3	3
KIAA1409	57578	broad.mit.edu	37	14	94044289	94044289	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94044289G>A	uc001ybv.1	+	c.1782G>A	c.(1780-1782)CCG>CCA	p.P594P	KIAA1409_uc001ybs.1_Silent_p.P594P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	771						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.099291	9.343132	31.982019	14	127	KEEP	---	---	---	---	capture		Silent	SNP	94044289	94044289	8539	14	G	A	A	A	509	40	KIAA1409	1	1
AK7	122481	broad.mit.edu	37	14	96917885	96917885	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96917885A>G	uc001yfn.2	+	c.1076A>G	c.(1075-1077)TAC>TGC	p.Y359C		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	359	Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)										0.133333	3.731658	7.767269	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96917885	96917885	447	14	A	G	G	G	182	14	AK7	4	4
FBN1	2200	broad.mit.edu	37	15	48791196	48791196	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48791196G>A	uc001zwx.1	-	c.2153C>T	c.(2152-2154)ACG>ATG	p.T718M		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	718					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)						2933				0.254902	67.606991	73.16283	26	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48791196	48791196	5938	15	G	A	A	A	520	40	FBN1	1	1
ZNF774	342132	broad.mit.edu	37	15	90904004	90904004	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90904004C>T	uc002bpk.3	+	c.941C>T	c.(940-942)ACG>ATG	p.T314M		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)											0.090517	5.626436	44.843795	21	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90904004	90904004	18745	15	C	T	T	T	247	19	ZNF774	1	1
CPPED1	55313	broad.mit.edu	37	16	12758835	12758835	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:12758835C>T	uc002dca.3	-	c.853G>A	c.(853-855)GCC>ACC	p.A285T	CPPED1_uc002dcb.3_Missense_Mutation_p.A143T|CPPED1_uc002dbz.3_Non-coding_Transcript	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	285							hydrolase activity|metal ion binding				0														0.3	16.444177	17.1578	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12758835	12758835	3960	16	C	T	T	T	351	27	CPPED1	1	1
BFAR	51283	broad.mit.edu	37	16	14761536	14761536	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14761536C>T	uc002dco.2	+	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	BFAR_uc002dcp.2_Missense_Mutation_p.T277M|BFAR_uc010uzh.1_Missense_Mutation_p.T274M	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	402	Lumenal (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)	1														0.229508	32.934705	37.016099	14	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14761536	14761536	1438	16	C	T	T	T	247	19	BFAR	1	1
SMG1	23049	broad.mit.edu	37	16	18896866	18896866	+	Silent	SNP	A	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18896866A>G	uc002dfm.2	-	c.945T>C	c.(943-945)TTT>TTC	p.F315F	SMG1_uc010bwb.2_Silent_p.F175F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	315					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.22807	68.905147	76.628692	26	88	KEEP	---	---	---	---	capture		Silent	SNP	18896866	18896866	15293	16	A	G	G	G	167	13	SMG1	4	4
POLR3E	55718	broad.mit.edu	37	16	22334242	22334242	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22334242G>A	uc002dkk.2	+	c.1058G>A	c.(1057-1059)CGA>CAA	p.R353Q	POLR3E_uc002dkj.1_Missense_Mutation_p.R353Q|POLR3E_uc002dkm.2_Missense_Mutation_p.R317Q|POLR3E_uc010vbr.1_Missense_Mutation_p.R353Q|POLR3E_uc002dkl.2_Missense_Mutation_p.R353Q|POLR3E_uc010vbs.1_Missense_Mutation_p.R317Q|POLR3E_uc010vbt.1_Missense_Mutation_p.R297Q	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	353					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)										0.25	6.619369	7.301323	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22334242	22334242	12660	16	G	A	A	A	481	37	POLR3E	1	1
SLC6A2	6530	broad.mit.edu	37	16	55690765	55690765	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55690765G>A	uc002eif.2	+	c.159G>A	c.(157-159)GCG>GCA	p.A53A	SLC6A2_uc010ccd.2_Silent_p.A53A|SLC6A2_uc002eig.2_Silent_p.A53A|SLC6A2_uc002eih.2_Silent_p.A53A	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	53	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			ovary(2)|pancreas(2)	4				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)									0.227273	33.630818	38.11031	15	51	KEEP	---	---	---	---	capture		Silent	SNP	55690765	55690765	15180	16	G	A	A	A	483	38	SLC6A2	1	1
ADAMTS18	170692	broad.mit.edu	37	16	77327081	77327081	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77327081G>A	uc002ffc.3	-	c.3081C>T	c.(3079-3081)CCC>CCT	p.P1027P	ADAMTS18_uc010chc.1_Silent_p.P615P	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1027	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.278689	45.536922	48.17149	17	44	KEEP	---	---	---	---	capture		Silent	SNP	77327081	77327081	264	16	G	A	A	A	496	39	ADAMTS18	1	1
PIGL	9487	broad.mit.edu	37	17	16203255	16203255	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16203255T>G	uc002gpv.2	+	c.389T>G	c.(388-390)GTC>GGC	p.V130G	PIGL_uc010vwd.1_Missense_Mutation_p.V130G	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	130	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)										0.31746	50.17413	52.042747	20	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16203255	16203255	12315	17	T	G	G	G	754	58	PIGL	4	4
SLFN11	91607	broad.mit.edu	37	17	33687335	33687335	+	Silent	SNP	A	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33687335A>G	uc010ctp.2	-	c.1125T>C	c.(1123-1125)CCT>CCC	p.P375P	SLFN11_uc010ctq.2_Silent_p.P375P|SLFN11_uc002hjh.3_Silent_p.P375P|SLFN11_uc002hjg.3_Silent_p.P375P|SLFN11_uc010ctr.2_Silent_p.P375P	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	375						nucleus	ATP binding			large_intestine(1)|ovary(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.160714	12.932983	19.081993	9	47	KEEP	---	---	---	---	capture		Silent	SNP	33687335	33687335	15230	17	A	G	G	G	132	11	SLFN11	4	4
KRT34	3885	broad.mit.edu	37	17	39535236	39535236	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39535236G>A	uc002hwm.2	-	c.1195C>T	c.(1195-1197)CGG>TGG	p.R399W		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	399	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)												0.367521	255.71463	259.312787	86	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39535236	39535236	8786	17	G	A	A	A	506	39	KRT34	1	1
KRT38	8687	broad.mit.edu	37	17	39594546	39594546	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39594546G>A	uc002hwq.1	-	c.1040C>T	c.(1039-1041)TCC>TTC	p.S347F		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	347	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.000496)												0.088235	1.415222	7.227903	3	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39594546	39594546	8790	17	G	A	A	A	533	41	KRT38	2	2
KRT38	8687	broad.mit.edu	37	17	39594556	39594556	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39594556G>A	uc002hwq.1	-	c.1030C>T	c.(1030-1032)CTG>TTG	p.L344L		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	344	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.000496)												0.102564	3.27337	9.410035	4	35	KEEP	---	---	---	---	capture		Silent	SNP	39594556	39594556	8790	17	G	A	A	A	425	33	KRT38	2	2
KAT2A	2648	broad.mit.edu	37	17	40269436	40269436	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40269436T>A	uc002hyx.2	-	c.1607A>T	c.(1606-1608)AAG>ATG	p.K536M		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	536	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity				0														0.130435	4.608532	7.664461	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40269436	40269436	8285	17	T	A	A	A	728	56	KAT2A	3	3
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577097C>T	uc002gim.2	-	c.841G>A	c.(841-843)GAC>AAC	p.D281N	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.D281N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149N|TP53_uc010cng.1_Missense_Mutation_p.D149N|TP53_uc002gii.1_Missense_Mutation_p.D149N|TP53_uc010cnh.1_Missense_Mutation_p.D281N|TP53_uc010cni.1_Missense_Mutation_p.D281N|TP53_uc002gij.2_Missense_Mutation_p.D281N	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	281	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|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|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	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|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|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.D281H(19)|p.D281N(18)|p.0?(6)|p.D281Y(5)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|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)	21904		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)		Pancreas(47;798 1329 9957 10801)		111	p.D281Y(KURAMOCHI-Tumor)|p.V274fs(SCC9-Tumor)|p.D281N(SNU201-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.333333	33.515484	34.326563	11	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577097	7577097	16923	17	C	T	T	T	416	32	TP53	2	2
ATP5A1	498	broad.mit.edu	37	18	43666458	43666458	+	Silent	SNP	G	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43666458G>T	uc002lbr.1	-	c.1179C>A	c.(1177-1179)ATC>ATA	p.I393I	ATP5A1_uc010dnl.1_Silent_p.I343I|ATP5A1_uc002lbs.1_Silent_p.I343I|ATP5A1_uc002lbt.1_Silent_p.I393I	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	393					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|mitochondrial ATP synthesis coupled proton transport|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0														0.210526	7.588246	9.063102	4	15	KEEP	---	---	---	---	capture		Silent	SNP	43666458	43666458	1166	18	G	T	T	T	421	33	ATP5A1	2	2
CD226	10666	broad.mit.edu	37	18	67614224	67614224	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67614224C>G	uc010dqo.2	-	c.128G>C	c.(127-129)GGC>GCC	p.G43A	CD226_uc002lkm.3_Missense_Mutation_p.G43A	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	43	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity				0		Esophageal squamous(42;0.129)				NSCLC(184;838 2130 8673 21498 50749)								0.240741	29.977259	33.270446	13	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67614224	67614224	3113	18	C	G	G	G	338	26	CD226	3	3
NETO1	81832	broad.mit.edu	37	18	70526282	70526282	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70526282T>G	uc002lkw.2	-	c.248A>C	c.(247-249)TAC>TCC	p.Y83S	NETO1_uc002lkx.1_Missense_Mutation_p.Y82S|NETO1_uc002lky.1_Missense_Mutation_p.Y83S|NETO1_uc002lkz.2_Missense_Mutation_p.Y82S	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	83	CUB 1.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.289474	29.809709	31.319278	11	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70526282	70526282	10738	18	T	G	G	G	741	57	NETO1	4	4
TSHZ1	10194	broad.mit.edu	37	18	73000513	73000513	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:73000513G>A	uc002lly.2	+	c.3016G>A	c.(3016-3018)GCA>ACA	p.A1006T		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	1051	C2H2-type 5.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)										0.192308	21.823754	26.418404	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73000513	73000513	17174	18	G	A	A	A	494	38	TSHZ1	1	1
CDC37	11140	broad.mit.edu	37	19	10504047	10504047	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10504047C>T	uc002mof.1	-	c.797G>A	c.(796-798)CGT>CAT	p.R266H	CDC37_uc002moe.1_Missense_Mutation_p.R221H|CDC37_uc010dxf.1_Missense_Mutation_p.R103H|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Missense_Mutation_p.R266H	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	266					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)										0.139785	19.841611	31.472794	13	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10504047	10504047	3196	19	C	T	T	T	247	19	CDC37	1	1
ZFP82	284406	broad.mit.edu	37	19	36884572	36884572	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36884572T>A	uc002ody.1	-	c.670A>T	c.(670-672)AAA>TAA	p.K224*		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.207792	34.356987	40.448784	16	61	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36884572	36884572	18242	19	T	A	A	A	832	64	ZFP82	5	3
ZNF260	339324	broad.mit.edu	37	19	37005579	37005579	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37005579C>T	uc002oee.1	-	c.562G>A	c.(562-564)GGA>AGA	p.G188R	ZNF260_uc002oed.1_Missense_Mutation_p.G185R|ZNF260_uc010eey.1_Missense_Mutation_p.G185R|ZNF260_uc002oef.1_Missense_Mutation_p.G185R	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	188					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)													0.333333	68.306515	70.001701	23	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37005579	37005579	18394	19	C	T	T	T	273	21	ZNF260	2	2
ZNF607	84775	broad.mit.edu	37	19	38190762	38190762	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38190762C>T	uc002ohc.1	-	c.270G>A	c.(268-270)GGG>GGA	p.G90G	ZNF607_uc002ohb.1_Silent_p.G89G	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)											0.172414	8.75586	11.698462	5	24	KEEP	---	---	---	---	capture		Silent	SNP	38190762	38190762	18628	19	C	T	T	T	379	30	ZNF607	2	2
ZNF607	84775	broad.mit.edu	37	19	38190779	38190779	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38190779C>T	uc002ohc.1	-	c.253G>A	c.(253-255)GAA>AAA	p.E85K	ZNF607_uc002ohb.1_Missense_Mutation_p.E84K	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)											0.130435	3.408617	6.465668	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38190779	38190779	18628	19	C	T	T	T	377	29	ZNF607	2	2
PNMAL1	55228	broad.mit.edu	37	19	46973245	46973245	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46973245C>T	uc002peq.3	-	c.1048G>A	c.(1048-1050)GTG>ATG	p.V350M	PNMAL1_uc002per.3_Missense_Mutation_p.V350M	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	350											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)										0.259067	123.248113	133.343121	50	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46973245	46973245	12584	19	C	T	T	T	247	19	PNMAL1	1	1
FAM71E1	112703	broad.mit.edu	37	19	50979509	50979509	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50979509G>T	uc002psh.2	-	c.137C>A	c.(136-138)CCT>CAT	p.P46H	FAM71E1_uc002psg.2_Missense_Mutation_p.P46H|FAM71E1_uc002psi.2_Non-coding_Transcript|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	hypothetical protein LOC112703	46										breast(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)										0.3	7.43197	7.783191	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50979509	50979509	5834	19	G	T	T	T	455	35	FAM71E1	2	2
NLRP5	126206	broad.mit.edu	37	19	56538691	56538691	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56538691C>T	uc002qmj.2	+	c.1092C>T	c.(1090-1092)TTC>TTT	p.F364F	NLRP5_uc002qmi.2_Silent_p.F345F	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	364	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)										0.192308	11.063329	13.359448	5	21	KEEP	---	---	---	---	capture		Silent	SNP	56538691	56538691	10883	19	C	T	T	T	402	31	NLRP5	1	1
MYO1F	4542	broad.mit.edu	37	19	8587292	8587292	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8587292G>A	uc002mkg.2	-	c.3189C>T	c.(3187-3189)AAC>AAT	p.N1063N		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	1063	SH3.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)	2														0.107143	2.851596	7.098578	3	25	KEEP	---	---	---	---	capture		Silent	SNP	8587292	8587292	10468	19	G	A	A	A	516	40	MYO1F	1	1
CELSR2	1952	broad.mit.edu	37	1	109807587	109807587	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109807587C>T	uc001dxa.3	+	c.5562C>T	c.(5560-5562)ACC>ACT	p.T1854T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1854	Extracellular (Potential).|EGF-like 6; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of gene-specific transcription|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)	3		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		NSCLC(158;1285 2011 34800 34852 42084)								0.179245	43.766607	54.021709	19	87	KEEP	---	---	---	---	capture		Silent	SNP	109807587	109807587	3355	1	C	T	T	T	301	24	CELSR2	2	2
TBX15	6913	broad.mit.edu	37	1	119467377	119467377	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119467377T>A	uc001ehl.1	-	c.267A>T	c.(265-267)AGA>AGT	p.R89S		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	195	T-box.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)										0.192	100.915579	123.027718	48	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119467377	119467377	16178	1	T	A	A	A	699	54	TBX15	3	3
NOTCH2	4853	broad.mit.edu	37	1	120539849	120539849	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120539849G>A	uc001eik.2	-	c.522C>T	c.(520-522)TTC>TTT	p.F174F	NOTCH2_uc001eil.2_Silent_p.F174F|NOTCH2_uc001eim.3_Silent_p.F91F	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	174	Extracellular (Potential).|EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(7)|ovary(4)|lung(3)|central_nervous_system(2)|kidney(2)|breast(1)	19	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)						581				0.356436	100.868419	102.703633	36	65	KEEP	---	---	---	---	capture		Silent	SNP	120539849	120539849	10951	1	G	A	A	A	581	45	NOTCH2	2	2
PRDM2	7799	broad.mit.edu	37	1	14105149	14105149	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:14105149G>A	uc001avi.2	+	c.859G>A	c.(859-861)GAT>AAT	p.D287N	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.D287N|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.D44N|PRDM2_uc001avk.2_Missense_Mutation_p.D86N|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	287	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 4; AAA87023).	regulation of transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)										0.292683	62.977725	66.127585	24	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14105149	14105149	12900	1	G	A	A	A	585	45	PRDM2	2	2
PEX11B	8799	broad.mit.edu	37	1	145522602	145522602	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145522602C>T	uc001eny.1	+	c.463C>T	c.(463-465)CGG>TGG	p.R155W	NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Missense_Mutation_p.R141W|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	155					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.431193	151.120236	151.567541	47	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145522602	145522602	12160	1	C	T	T	T	295	23	PEX11B	1	1
LINGO4	339398	broad.mit.edu	37	1	151774060	151774060	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151774060C>T	uc001ezf.1	-	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	374	Extracellular (Potential).|LRRCT.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.277778	11.768431	12.567741	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151774060	151774060	9144	1	C	T	T	T	351	27	LINGO4	1	1
SH2D2A	9047	broad.mit.edu	37	1	156779567	156779567	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156779567G>A	uc009wsh.2	-	c.630C>T	c.(628-630)ACC>ACT	p.T210T	SH2D2A_uc001fqc.1_Silent_p.T172T|SH2D2A_uc001fqd.2_Silent_p.T200T|SH2D2A_uc001fqe.2_Silent_p.T182T|SH2D2A_uc010phs.1_Silent_p.T200T	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 1	200	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									2				0.307377	432.034875	448.086468	150	338	KEEP	---	---	---	---	capture		Silent	SNP	156779567	156779567	14723	1	G	A	A	A	496	39	SH2D2A	1	1
FCRL3	115352	broad.mit.edu	37	1	157650553	157650553	+	Silent	SNP	A	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157650553A>G	uc001fqz.3	-	c.1965T>C	c.(1963-1965)CCT>CCC	p.P655P	FCRL3_uc001fqx.3_Non-coding_Transcript|FCRL3_uc001fqy.3_Non-coding_Transcript|FCRL3_uc009wsn.2_Non-coding_Transcript|FCRL3_uc009wso.2_Non-coding_Transcript|FCRL3_uc001fra.2_Silent_p.P381P|FCRL3_uc001frb.2_Silent_p.P655P|FCRL3_uc001frc.1_Silent_p.P655P	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	655	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.119565	8.25262	21.337699	11	81	KEEP	---	---	---	---	capture		Silent	SNP	157650553	157650553	6033	1	A	G	G	G	80	7	FCRL3	4	4
AIM2	9447	broad.mit.edu	37	1	159035745	159035745	+	Silent	SNP	A	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159035745A>G	uc001ftj.1	-	c.771T>C	c.(769-771)ACT>ACC	p.T257T		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	257	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)													0.164557	23.739558	32.170415	13	66	KEEP	---	---	---	---	capture		Silent	SNP	159035745	159035745	435	1	A	G	G	G	132	11	AIM2	4	4
TPR	7175	broad.mit.edu	37	1	186307308	186307308	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186307308T>A	uc001grv.2	-	c.4219A>T	c.(4219-4221)AGA>TGA	p.R1407*		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1407	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)						1949				0.12	3.806488	7.348665	3	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	186307308	186307308	16960	1	T	A	A	A	726	56	TPR	5	3
KCNT2	343450	broad.mit.edu	37	1	196227504	196227504	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196227504G>A	uc001gtd.1	-	c.3031C>T	c.(3031-3033)CGG>TGG	p.R1011W	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R944W|KCNT2_uc001gtf.1_Missense_Mutation_p.R987W|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.R515W	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1011	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.2	15.109143	18.036044	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196227504	196227504	8397	1	G	A	A	A	493	38	KCNT2	1	1
CFHR3	10878	broad.mit.edu	37	1	196759231	196759231	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196759231T>A	uc001gtl.2	+	c.670T>A	c.(670-672)TTT>ATT	p.F224I	CFHR3_uc010poy.1_Missense_Mutation_p.F163I|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	224	Sushi 4.					extracellular space					0														0.254545	36.924811	39.93094	14	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196759231	196759231	3419	1	T	A	A	A	728	56	CFHR3	3	3
PTPRC	5788	broad.mit.edu	37	1	198668831	198668831	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:198668831C>A	uc001gur.1	+	c.431C>A	c.(430-432)TCA>TAA	p.S144*	PTPRC_uc001gus.1_Nonsense_Mutation_p.S144*|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Nonsense_Mutation_p.S80*|PTPRC_uc009wzf.1_Nonsense_Mutation_p.S80*|PTPRC_uc010ppg.1_Nonsense_Mutation_p.S80*|PTPRC_uc001guu.1_Nonsense_Mutation_p.S187*|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	144	Extracellular (Potential).				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(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.167568	59.904529	79.283843	31	154	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	198668831	198668831	13254	1	C	A	A	A	377	29	PTPRC	5	2
CACNA1S	779	broad.mit.edu	37	1	201038623	201038623	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201038623G>A	uc001gvv.2	-	c.2467C>T	c.(2467-2469)CGG>TGG	p.R823W		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	823	Extracellular (Potential).|III.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)									0.555556	31.853012	31.901865	10	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201038623	201038623	2663	1	G	A	A	A	506	39	CACNA1S	1	1
USH2A	7399	broad.mit.edu	37	1	216108090	216108090	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216108090C>T	uc001hku.1	-	c.7168G>A	c.(7168-7170)GGA>AGA	p.G2390R		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2390	Extracellular (Potential).|Fibronectin type-III 10.				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)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.414634	54.272084	54.531755	17	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216108090	216108090	17598	1	C	T	T	T	299	23	USH2A	1	1
OR2M7	391196	broad.mit.edu	37	1	248487030	248487030	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248487030C>T	uc010pzk.1	-	c.841G>A	c.(841-843)GTC>ATC	p.V281I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)											0.181818	23.466516	29.740024	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248487030	248487030	11420	1	C	T	T	T	247	19	OR2M7	1	1
OR2G6	391211	broad.mit.edu	37	1	248685778	248685778	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248685778C>G	uc001ien.1	+	c.831C>G	c.(829-831)TTC>TTG	p.F277L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.051546	-11.505232	9.171146	5	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248685778	248685778	11406	1	C	G	G	G	415	32	OR2G6	3	3
OR2T27	403239	broad.mit.edu	37	1	248813367	248813367	+	Silent	SNP	A	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248813367A>G	uc010pzo.1	-	c.819T>C	c.(817-819)GCT>GCC	p.A273A		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	273	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.210526	22.459937	26.890301	12	45	KEEP	---	---	---	---	capture		Silent	SNP	248813367	248813367	11427	1	A	G	G	G	80	7	OR2T27	4	4
LDLRAP1	26119	broad.mit.edu	37	1	25881403	25881403	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:25881403G>A	uc001bkl.3	+	c.284G>A	c.(283-285)CGG>CAG	p.R95Q		NM_015627	NP_056442	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein	95	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)										0.210526	8.390661	9.863472	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25881403	25881403	9032	1	G	A	A	A	507	39	LDLRAP1	1	1
SCMH1	22955	broad.mit.edu	37	1	41579129	41579129	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41579129G>A	uc001cgo.2	-	c.541C>T	c.(541-543)CCT>TCT	p.P181S	SCMH1_uc010ojr.1_Intron|SCMH1_uc001cgp.2_Missense_Mutation_p.P120S|SCMH1_uc001cgr.2_Missense_Mutation_p.P120S|SCMH1_uc001cgs.2_Missense_Mutation_p.P191S|SCMH1_uc001cgt.2_Missense_Mutation_p.P120S|SCMH1_uc001cgq.2_Missense_Mutation_p.P134S|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	181	MBT 2.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)												0.275	30.414076	32.233808	11	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41579129	41579129	14390	1	G	A	A	A	559	43	SCMH1	2	2
MAST2	23139	broad.mit.edu	37	1	46497165	46497165	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:46497165C>T	uc001cov.2	+	c.3095C>T	c.(3094-3096)TCT>TTT	p.S1032F	MAST2_uc001cow.2_Missense_Mutation_p.S1032F|MAST2_uc001cpa.2_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1032					protein phosphorylation|regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|breast(1)	9	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)									975				0.285714	17.14118	18.006623	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46497165	46497165	9709	1	C	T	T	T	416	32	MAST2	2	2
CYB5RL	606495	broad.mit.edu	37	1	54661235	54661235	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:54661235G>A	uc009vzo.2	-	c.55C>T	c.(55-57)CGG>TGG	p.R19W	CYB5RL_uc001cww.2_De_novo_Start_OutOfFrame|CYB5RL_uc001cwx.3_Non-coding_Transcript|CYB5RL_uc001cwy.3_De_novo_Start_OutOfFrame	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	19					oxidation-reduction process		cytochrome-b5 reductase activity				0														0.27551	68.494295	72.935547	27	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54661235	54661235	4295	1	G	A	A	A	519	40	CYB5RL	1	1
LPHN2	23266	broad.mit.edu	37	1	82408983	82408983	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:82408983C>T	uc001dit.3	+	c.728C>T	c.(727-729)GCC>GTC	p.A243V	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A243V|LPHN2_uc001div.2_Missense_Mutation_p.A243V|LPHN2_uc009wcd.2_Missense_Mutation_p.A243V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	243	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)										0.169492	16.102943	22.140244	10	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82408983	82408983	9289	1	C	T	T	T	338	26	LPHN2	2	2
ADAMTS5	11096	broad.mit.edu	37	21	28338433	28338433	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28338433G>A	uc002ymg.2	-	c.278C>T	c.(277-279)GCG>GTG	p.A93V		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	93					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.307692	30.588776	31.8728	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28338433	28338433	270	21	G	A	A	A	494	38	ADAMTS5	1	1
GART	2618	broad.mit.edu	37	21	34903822	34903822	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34903822T>G	uc002yrx.2	-	c.570A>C	c.(568-570)GAA>GAC	p.E190D	GART_uc002yrz.2_Missense_Mutation_p.E190D|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.E190D|GART_uc002ysa.2_Missense_Mutation_p.E190D	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	190	ATP (By similarity).|ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)									0.076923	-1.013745	13.283204	6	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34903822	34903822	6507	21	T	G	G	G	725	56	GART	4	4
DSCAM	1826	broad.mit.edu	37	21	41711173	41711173	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41711173C>T	uc002yyq.1	-	c.1380G>A	c.(1378-1380)ACG>ACA	p.T460T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	460	Extracellular (Potential).|Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.2	21.730227	25.909887	10	40	KEEP	---	---	---	---	capture		Silent	SNP	41711173	41711173	4952	21	C	T	T	T	236	19	DSCAM	1	1
UMODL1	89766	broad.mit.edu	37	21	43519072	43519072	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43519072T>A	uc002zag.1	+	c.968T>A	c.(967-969)GTC>GAC	p.V323D	UMODL1_uc002zad.1_Missense_Mutation_p.V251D|UMODL1_uc002zae.1_Missense_Mutation_p.V251D|UMODL1_uc002zaf.1_Missense_Mutation_p.V323D|UMODL1_uc010gow.1_Missense_Mutation_p.V115D|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.V68D	NM_173568	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 2 precursor	323	Extracellular (Potential).|Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)	2						Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)								0.084746	-1.531844	19.153616	10	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43519072	43519072	17538	21	T	A	A	A	754	58	UMODL1	3	3
ABCG1	9619	broad.mit.edu	37	21	43708163	43708163	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43708163C>T	uc011aev.1	+	c.1171C>T	c.(1171-1173)CGA>TGA	p.R391*	ABCG1_uc002zan.2_Intron|ABCG1_uc002zam.2_Intron|ABCG1_uc002zao.2_Intron|ABCG1_uc002zap.2_Intron|ABCG1_uc002zaq.2_Nonsense_Mutation_p.R380*|ABCG1_uc002zar.2_Intron|ABCG1_uc010gpb.1_De_novo_Start_OutOfFrame	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	380	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|integral to plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid binding|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)	2					Adenosine triphosphate(DB00171)									0.178899	84.152082	105.257206	39	179	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43708163	43708163	69	21	C	T	T	T	243	19	ABCG1	5	1
LZTR1	8216	broad.mit.edu	37	22	21344731	21344731	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21344731C>T	uc002zto.2	+	c.708C>T	c.(706-708)TGC>TGT	p.C236C	LZTR1_uc002ztn.2_Silent_p.C195C|LZTR1_uc011ahy.1_Silent_p.C217C|LZTR1_uc010gsr.1_Silent_p.C107C	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	236	Kelch 3.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)							1299				0.096774	2.006568	7.053232	3	28	KEEP	---	---	---	---	capture		Silent	SNP	21344731	21344731	9514	22	C	T	T	T	337	26	LZTR1	2	2
THSD7B	80731	broad.mit.edu	37	2	137988705	137988705	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:137988705C>T	uc002tva.1	+	c.1722C>T	c.(1720-1722)AGC>AGT	p.S574S	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.S464S	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.262295	37.47247	40.591755	16	45	KEEP	---	---	---	---	capture		Silent	SNP	137988705	137988705	16408	2	C	T	T	T	350	27	THSD7B	1	1
GALNT3	2591	broad.mit.edu	37	2	166611208	166611208	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166611208C>G	uc010fph.1	-	c.1555G>C	c.(1555-1557)GAT>CAT	p.D519H		NM_004482	NP_004473	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	519	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(2)|ovary(1)	3														0.173913	6.885045	9.194948	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166611208	166611208	6478	2	C	G	G	G	390	30	GALNT3	3	3
CPO	130749	broad.mit.edu	37	2	207814376	207814376	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207814376A>C	uc002vby.2	+	c.104A>C	c.(103-105)AAG>ACG	p.K35T		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	35					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)										0.1625	24.119807	32.789228	13	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207814376	207814376	3958	2	A	C	C	C	39	3	CPO	4	4
PTPRN	5798	broad.mit.edu	37	2	220166981	220166981	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220166981G>A	uc002vkz.2	-	c.872C>T	c.(871-873)GCC>GTC	p.A291V	PTPRN_uc010zlc.1_Missense_Mutation_p.A201V|PTPRN_uc002vla.2_Missense_Mutation_p.A291V	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	291	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)										0.388889	53.754255	54.340471	21	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220166981	220166981	13264	2	G	A	A	A	546	42	PTPRN	2	2
WDR69	164781	broad.mit.edu	37	2	228758628	228758628	+	Silent	SNP	T	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228758628T>G	uc002vpn.1	+	c.435T>G	c.(433-435)CCT>CCG	p.P145P	WDR69_uc010zlw.1_Silent_p.P130P|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	145	WD 2.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)										0.272727	9.221096	9.732565	3	8	KEEP	---	---	---	---	capture		Silent	SNP	228758628	228758628	17892	2	T	G	G	G	717	56	WDR69	4	4
TRIP12	9320	broad.mit.edu	37	2	230724133	230724133	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230724133G>A	uc002vpx.1	-	c.382C>T	c.(382-384)CCT>TCT	p.P128S	TRIP12_uc002vpw.1_Missense_Mutation_p.P86S|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Missense_Mutation_p.P86S	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	86					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|breast(1)|central_nervous_system(1)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)										0.221239	58.113177	66.197014	25	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230724133	230724133	17106	2	G	A	A	A	533	41	TRIP12	2	2
C2orf71	388939	broad.mit.edu	37	2	29296670	29296670	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29296670G>A	uc002rmt.1	-	c.458C>T	c.(457-459)ACG>ATG	p.T153M		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	153					response to stimulus|visual perception	photoreceptor outer segment					0														0.270833	33.261675	35.530609	13	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29296670	29296670	2279	2	G	A	A	A	520	40	C2orf71	1	1
TTC15	51112	broad.mit.edu	37	2	3428399	3428399	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3428399A>C	uc002qxm.1	+	c.1382A>C	c.(1381-1383)TAC>TCC	p.Y461S	TTC15_uc002qxn.1_Missense_Mutation_p.Y461S|TTC15_uc010ewm.1_Missense_Mutation_p.Y461S	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	461							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)										0.236842	21.857676	24.261907	9	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3428399	3428399	17236	2	A	C	C	C	182	14	TTC15	4	4
SLC8A1	6546	broad.mit.edu	37	2	40655812	40655812	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40655812C>T	uc002rrx.2	-	c.1609G>A	c.(1609-1611)GCA>ACA	p.A537T	SLC8A1_uc002rry.2_Missense_Mutation_p.A537T|SLC8A1_uc002rrz.2_Missense_Mutation_p.A537T|SLC8A1_uc002rsa.2_Missense_Mutation_p.A537T|SLC8A1_uc002rsd.3_Missense_Mutation_p.A537T|SLC8A1_uc002rsb.1_Missense_Mutation_p.A537T|SLC8A1_uc010fan.1_Missense_Mutation_p.A537T|SLC8A1_uc002rsc.1_Missense_Mutation_p.A537T	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	537	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.134328	12.73492	21.423294	9	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40655812	40655812	15203	2	C	T	T	T	351	27	SLC8A1	1	1
CBLB	868	broad.mit.edu	37	3	105456067	105456067	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:105456067T>C	uc003dwc.2	-	c.1019A>G	c.(1018-1020)GAT>GGT	p.D340G	CBLB_uc011bhi.1_Missense_Mutation_p.D362G|CBLB_uc003dwd.1_Missense_Mutation_p.D340G|CBLB_uc003dwe.1_Missense_Mutation_p.D340G|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	340	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			ovary(3)|lung(2)|skin(1)	6						GBM(93;588 1337 9788 29341 43499)								0.375	20.350508	20.568251	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105456067	105456067	2820	3	T	C	C	C	650	50	CBLB	4	4
GRAMD1C	54762	broad.mit.edu	37	3	113634553	113634553	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113634553G>A	uc003eaq.3	+	c.958G>A	c.(958-960)GTT>ATT	p.V320I	GRAMD1C_uc011bil.1_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.2_Missense_Mutation_p.V153I|GRAMD1C_uc003eas.2_Missense_Mutation_p.V115I|GRAMD1C_uc003eat.2_5'UTR	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	320						integral to membrane				ovary(2)	2														0.142857	5.210059	7.791708	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113634553	113634553	7025	3	G	A	A	A	624	48	GRAMD1C	2	2
C3orf27	23434	broad.mit.edu	37	3	128292393	128292393	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128292393G>A	uc003ekq.2	-	c.180C>T	c.(178-180)CTC>CTT	p.L60L		NM_007354	NP_031380	O15544	GR6_HUMAN	putative GR6 protein	60											0				GBM - Glioblastoma multiforme(114;0.176)										0.145161	14.739313	22.245302	9	53	KEEP	---	---	---	---	capture		Silent	SNP	128292393	128292393	2312	3	G	A	A	A	470	37	C3orf27	1	1
NEK11	79858	broad.mit.edu	37	3	131068579	131068579	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:131068579A>T	uc003eny.2	+	c.1897A>T	c.(1897-1899)ATC>TTC	p.I633F	NEK11_uc003eoa.2_Nonstop_Mutation_p.*600C|NEK11_uc003enz.2_Missense_Mutation_p.I451F|NEK11_uc010htn.2_Non-coding_Transcript|NEK11_uc011blk.1_Missense_Mutation_p.I449F|NEK11_uc011bll.1_Missense_Mutation_p.I528F	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	633					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade|protein phosphorylation	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|central_nervous_system(1)	5										271				0.097826	3.703737	18.613278	9	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131068579	131068579	10722	3	A	T	T	T	156	12	NEK11	3	3
RAB6B	51560	broad.mit.edu	37	3	133558368	133558368	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:133558368G>A	uc003epy.2	-	c.383C>T	c.(382-384)ACG>ATG	p.T128M	RAB6B_uc011blu.1_Missense_Mutation_p.T115M	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	128	GTP.				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1														0.224138	30.948782	35.002553	13	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133558368	133558368	13411	3	G	A	A	A	520	40	RAB6B	1	1
CP	1356	broad.mit.edu	37	3	148925350	148925350	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148925350T>A	uc003ewy.3	-	c.836A>T	c.(835-837)GAC>GTC	p.D279V	CP_uc011bnr.1_Non-coding_Transcript|CP_uc003ewx.3_Missense_Mutation_p.D60V|CP_uc003ewz.2_Missense_Mutation_p.D279V|CP_uc010hvf.1_Missense_Mutation_p.D5V	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	279	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)									0.152941	21.021019	30.817398	13	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148925350	148925350	3925	3	T	A	A	A	754	58	CP	3	3
CCDC39	339829	broad.mit.edu	37	3	180377345	180377345	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180377345T>G	uc010hxe.2	-	c.633A>C	c.(631-633)CAA>CAC	p.Q211H	CCDC39_uc003fkn.2_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	211	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)											0.194444	30.304051	36.579295	14	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180377345	180377345	2933	3	T	G	G	G	725	56	CCDC39	4	4
CTDSPL	10217	broad.mit.edu	37	3	38022323	38022323	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38022323G>A	uc003chg.2	+	c.796G>A	c.(796-798)GTG>ATG	p.V266M	CTDSPL_uc003chh.2_Missense_Mutation_p.V255M|CTDSPL_uc003chi.2_Non-coding_Transcript	NM_001008392	NP_001008393	O15194	CTDSL_HUMAN	small CTD phosphatase 3 isoform 1	266						nucleus	metal ion binding|phosphoprotein phosphatase activity				0		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)						98				0.4	18.354676	18.483322	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38022323	38022323	4164	3	G	A	A	A	520	40	CTDSPL	1	1
MAGI1	9223	broad.mit.edu	37	3	65415696	65415696	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:65415696A>C	uc003dmn.2	-	c.1666T>G	c.(1666-1668)TAT>GAT	p.Y556D	MAGI1_uc003dmm.2_Missense_Mutation_p.Y556D|MAGI1_uc003dmo.2_Missense_Mutation_p.Y556D|MAGI1_uc003dmp.2_Missense_Mutation_p.Y556D|MAGI1_uc010hny.2_Missense_Mutation_p.Y441D	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	556					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			kidney(1)|pancreas(1)	2		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)										0.142857	12.707087	18.716919	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65415696	65415696	9573	3	A	C	C	C	169	13	MAGI1	4	4
KIAA1109	84162	broad.mit.edu	37	4	123192465	123192465	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123192465A>T	uc003ieh.2	+	c.7786A>T	c.(7786-7788)AGA>TGA	p.R2596*	KIAA1109_uc003iel.1_Nonsense_Mutation_p.R531*|KIAA1109_uc003iek.2_Nonsense_Mutation_p.R1215*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2596					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.081081	-1.409522	11.829649	6	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123192465	123192465	8516	4	A	T	T	T	88	7	KIAA1109	5	3
FBXW7	55294	broad.mit.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153249384C>T	uc003ims.2	-	c.1394G>A	c.(1393-1395)CGT>CAT	p.R465H	FBXW7_uc011cii.1_Missense_Mutation_p.R465H|FBXW7_uc003imt.2_Missense_Mutation_p.R465H|FBXW7_uc011cih.1_Missense_Mutation_p.R289H|FBXW7_uc003imq.2_Missense_Mutation_p.R385H|FBXW7_uc003imr.2_Missense_Mutation_p.R347H	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|negative regulation of DNA endoreduplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465H(36)|p.R465C(7)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(123)|large_intestine(99)|stomach(16)|endometrium(13)|ovary(9)|biliary_tract(8)|lung(4)|central_nervous_system(3)|kidney(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|skin(1)|NS(1)|bone(1)	289	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)							p.R465H(RPMI8402-Tumor)|p.R465H(MOLT13-Tumor)|p.R465H(CMLT1-Tumor)	266				0.13253	30.83624	52.606868	22	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153249384	153249384	6006	4	C	T	T	T	247	19	FBXW7	1	1
KIAA0922	23240	broad.mit.edu	37	4	154519861	154519861	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:154519861C>T	uc010ipp.2	+	c.2243C>T	c.(2242-2244)TCC>TTC	p.S748F	KIAA0922_uc003inm.3_Missense_Mutation_p.S747F|KIAA0922_uc010ipq.2_Missense_Mutation_p.S516F	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 1	747	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(180;0.093)	Renal(120;0.118)												0.25	10.45076	11.601666	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154519861	154519861	8508	4	C	T	T	T	390	30	KIAA0922	2	2
GRIA2	2891	broad.mit.edu	37	4	158282246	158282246	+	Silent	SNP	A	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158282246A>G	uc003ipm.3	+	c.2376A>G	c.(2374-2376)GGA>GGG	p.G792G	GRIA2_uc011cit.1_Intron|GRIA2_uc003ipl.3_Intron|GRIA2_uc003ipk.3_Intron|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Silent_p.G102G|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Intron|GRIA2_uc011ciy.1_Intron|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	792	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.175	14.099239	18.085817	7	33	KEEP	---	---	---	---	capture		Silent	SNP	158282246	158282246	7046	4	A	G	G	G	132	11	GRIA2	4	4
NEIL3	55247	broad.mit.edu	37	4	178260967	178260967	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:178260967C>T	uc003iut.2	+	c.658C>T	c.(658-660)CAC>TAC	p.H220Y	NEIL3_uc010irs.2_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	220					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)										0.125	5.578628	9.97402	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178260967	178260967	10719	4	C	T	T	T	377	29	NEIL3	2	2
SOD3	6649	broad.mit.edu	37	4	24801235	24801235	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:24801235C>A	uc003gqz.2	+	c.92C>A	c.(91-93)TCG>TAG	p.S31*	SOD3_uc003gqy.1_Non-coding_Transcript	NM_003102	NP_003093	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular precursor	31					oxidation-reduction process|removal of superoxide radicals	extracellular space|mitochondrion|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding				0		Breast(46;0.0503)												0.25	6.047337	6.50097	2	6	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24801235	24801235	15422	4	C	A	A	A	403	31	SOD3	5	1
CENPC1	1060	broad.mit.edu	37	4	68374581	68374581	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68374581C>A	uc003hdd.1	-	c.1855G>T	c.(1855-1857)GAA>TAA	p.E619*	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Nonsense_Mutation_p.E619*	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	619					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2														0.153846	28.571403	41.98171	18	99	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	68374581	68374581	3362	4	C	A	A	A	390	30	CENPC1	5	2
PCDHB11	56125	broad.mit.edu	37	5	140581715	140581715	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140581715C>T	uc003liy.2	+	c.2368C>T	c.(2368-2370)CGA>TGA	p.R790*	PCDHB11_uc011daj.1_Nonsense_Mutation_p.R425*	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	790	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.107143	3.505862	7.792024	3	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140581715	140581715	11956	5	C	T	T	T	399	31	PCDHB11	5	1
FAT2	2196	broad.mit.edu	37	5	150905367	150905367	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150905367T>C	uc003lue.3	-	c.10468A>G	c.(10468-10470)AGC>GGC	p.S3490G	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.S183G	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3490	Extracellular (Potential).|Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.109091	6.610666	14.939179	6	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150905367	150905367	5926	5	T	C	C	C	728	56	FAT2	4	4
NMUR2	56923	broad.mit.edu	37	5	151784112	151784112	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151784112T>A	uc003luv.2	-	c.563A>T	c.(562-564)AAG>ATG	p.K188M		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	188	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)											0.215909	42.274327	48.833194	19	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151784112	151784112	10910	5	T	A	A	A	728	56	NMUR2	3	3
MYO10	4651	broad.mit.edu	37	5	16699587	16699587	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16699587C>T	uc003jft.3	-	c.3528G>A	c.(3526-3528)CCG>CCA	p.P1176P	MYO10_uc011cnc.1_Silent_p.P55P|MYO10_uc011cnd.1_Silent_p.P533P|MYO10_uc011cne.1_Silent_p.P533P|MYO10_uc010itx.2_Silent_p.P799P	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1176					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.181818	24.471945	30.743447	12	54	KEEP	---	---	---	---	capture		Silent	SNP	16699587	16699587	10457	5	C	T	T	T	236	19	MYO10	1	1
SDHA	6389	broad.mit.edu	37	5	236581	236581	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:236581C>T	uc011clv.1	+	c.1299C>T	c.(1297-1299)CCC>CCT	p.P433P	SDHA_uc003jao.3_Silent_p.P433P|SDHA_uc011clw.1_Silent_p.P385P|SDHA_uc003jap.3_Silent_p.P433P|SDHA_uc003jaq.3_Silent_p.P208P|SDHA_uc003jar.3_Silent_p.P27P	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	433					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									0.233333	16.119225	18.06593	7	23	KEEP	---	---	---	---	capture		Silent	SNP	236581	236581	14448	5	C	T	T	T	288	23	SDHA	1	1
CDH10	1008	broad.mit.edu	37	5	24593560	24593560	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24593560C>G	uc003jgr.1	-	c.40G>C	c.(40-42)GTA>CTA	p.V14L	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	14					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.138889	14.089307	23.092712	10	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24593560	24593560	3225	5	C	G	G	G	234	18	CDH10	3	3
RXFP3	51289	broad.mit.edu	37	5	33937262	33937262	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33937262G>A	uc003jic.1	+	c.417G>A	c.(415-417)GCG>GCA	p.A139A		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	139	Helical; Name=2; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0														0.162791	15.029221	19.650768	7	36	KEEP	---	---	---	---	capture		Silent	SNP	33937262	33937262	14241	5	G	A	A	A	496	39	RXFP3	1	1
BRIX1	55299	broad.mit.edu	37	5	34924964	34924964	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34924964G>C	uc003jja.2	+	c.676G>C	c.(676-678)GAT>CAT	p.D226H		NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	BRIX	226	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0														0.121212	6.688757	11.317874	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34924964	34924964	1546	5	G	C	C	C	429	33	BRIX1	3	3
CARD6	84674	broad.mit.edu	37	5	40853691	40853691	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40853691A>T	uc003jmg.2	+	c.2257A>T	c.(2257-2259)ATG>TTG	p.M753L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	753					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5														0.131387	53.021426	89.214291	36	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40853691	40853691	2769	5	A	T	T	T	208	16	CARD6	3	3
CMYA5	202333	broad.mit.edu	37	5	79086882	79086882	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79086882C>T	uc003kgc.2	+	c.11779C>T	c.(11779-11781)CGG>TGG	p.R3927W		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3927	B30.2/SPRY.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)										0.125	3.61459	6.907157	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79086882	79086882	3728	5	C	T	T	T	243	19	CMYA5	1	1
SIM1	6492	broad.mit.edu	37	6	100841682	100841682	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100841682C>T	uc003pqj.3	-	c.1251G>A	c.(1249-1251)CCG>CCA	p.P417P	SIM1_uc010kcu.2_Silent_p.P417P	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	417	Single-minded C-terminal.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)										0.444444	59.527974	59.641475	20	25	KEEP	---	---	---	---	capture		Silent	SNP	100841682	100841682	14818	6	C	T	T	T	340	27	SIM1	1	1
MTHFD1L	25902	broad.mit.edu	37	6	151209072	151209072	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151209072C>T	uc011eeo.1	+	c.738C>T	c.(736-738)TCC>TCT	p.S246S	MTHFD1L_uc011een.1_Non-coding_Transcript|MTHFD1L_uc003qob.2_Silent_p.S245S|MTHFD1L_uc003qoc.2_Silent_p.S193S|MTHFD1L_uc003qoa.1_Silent_p.S245S|MTHFD1L_uc010kil.1_Non-coding_Transcript	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	245	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)										0.25	23.096078	25.603988	11	33	KEEP	---	---	---	---	capture		Silent	SNP	151209072	151209072	10321	6	C	T	T	T	262	21	MTHFD1L	2	2
C6orf97	80129	broad.mit.edu	37	6	151859418	151859418	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151859418A>G	uc003qol.2	+	c.425A>G	c.(424-426)GAG>GGG	p.E142G		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	142	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)						349				0.060606	-4.354713	8.958523	4	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151859418	151859418	2481	6	A	G	G	G	143	11	C6orf97	4	4
SYNE1	23345	broad.mit.edu	37	6	152718022	152718022	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152718022C>A	uc010kiw.2	-	c.7444G>T	c.(7444-7446)GTC>TTC	p.V2482F	SYNE1_uc003qot.3_Missense_Mutation_p.V2489F|SYNE1_uc003qou.3_Missense_Mutation_p.V2482F|SYNE1_uc010kjb.1_Missense_Mutation_p.V2465F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2482	Spectrin 4.|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)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.134328	14.926245	23.616784	9	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152718022	152718022	15966	6	C	A	A	A	221	17	SYNE1	2	2
PDCD2	5134	broad.mit.edu	37	6	170892657	170892657	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170892657G>T	uc003qxw.2	-	c.462C>A	c.(460-462)TAC>TAA	p.Y154*	PDCD2_uc003qxv.2_Nonsense_Mutation_p.Y121*|PDCD2_uc003qxx.1_Nonsense_Mutation_p.Y154*|PDCD2_uc003qxy.2_Nonsense_Mutation_p.Y121*|PDCD2_uc003qxz.2_Nonsense_Mutation_p.Y154*|PDCD2_uc003qya.2_Nonsense_Mutation_p.Y121*|PDCD2_uc003qyb.1_Nonsense_Mutation_p.Y77*	NM_002598	NP_002589	Q16342	PDCD2_HUMAN	programmed cell death 2 isoform 1	154	MYND-type.				apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding				0		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		Colon(60;1476 1726 39478)								0.181818	23.018494	28.247687	10	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	170892657	170892657	12040	6	G	T	T	T	464	36	PDCD2	5	2
C4A	720	broad.mit.edu	37	6	31997026	31997026	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31997026C>T	uc011dpd.1	+	c.3587C>T	c.(3586-3588)ACG>ATG	p.T1196M	C4A_uc011dpe.1_Missense_Mutation_p.T1196M	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	1196					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0														0.12	3.909476	7.448987	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31997026	31997026	2342	6	C	T	T	T	247	19	C4A	1	1
PPT2	9374	broad.mit.edu	37	6	32130686	32130686	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32130686C>T	uc003nzw.2	+	c.886C>T	c.(886-888)CGT>TGT	p.R296C	PPT2_uc003nzx.2_Missense_Mutation_p.R290C|PPT2_uc011dpi.1_Intron|PPT2_uc003nzy.1_Intron|PPT2_uc003nzz.2_Missense_Mutation_p.R290C|PPT2_uc003oaa.2_Missense_Mutation_p.R290C|PPT2_uc010jtu.1_Intron|EGFL8_uc003oac.1_5'Flank|EGFL8_uc003oab.1_5'Flank	NM_138717	NP_619731	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform b	290					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0														0.166667	63.156974	82.713166	31	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32130686	32130686	12848	6	C	T	T	T	299	23	PPT2	1	1
F13A1	2162	broad.mit.edu	37	6	6305708	6305708	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6305708G>A	uc003mwv.2	-	c.195C>T	c.(193-195)CAC>CAT	p.H65H	F13A1_uc011dib.1_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	65					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)									0.283019	39.038294	41.258449	15	38	KEEP	---	---	---	---	capture		Silent	SNP	6305708	6305708	5534	6	G	A	A	A	568	44	F13A1	2	2
DSP	1832	broad.mit.edu	37	6	7583731	7583731	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7583731A>C	uc003mxp.1	+	c.6236A>C	c.(6235-6237)GAC>GCC	p.D2079A	DSP_uc003mxq.1_Missense_Mutation_p.D1480A	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2079	Plectin 2.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)										0.09375	5.608435	26.842704	12	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7583731	7583731	4965	6	A	C	C	C	130	10	DSP	4	4
TTK	7272	broad.mit.edu	37	6	80750407	80750407	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80750407T>G	uc003pjc.2	+	c.2477T>G	c.(2476-2478)TTG>TGG	p.L826W	TTK_uc003pjb.3_Missense_Mutation_p.L825W	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	826					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|large_intestine(2)|pancreas(1)	9		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)						471				0.2	21.721407	25.907872	10	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80750407	80750407	17275	6	T	G	G	G	819	63	TTK	4	4
PRSS35	167681	broad.mit.edu	37	6	84233872	84233872	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84233872C>T	uc003pjz.2	+	c.712C>T	c.(712-714)CGG>TGG	p.R238W	PRSS35_uc010kbm.2_Missense_Mutation_p.R238W	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	238	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)										0.333333	46.194815	47.370245	16	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84233872	84233872	13074	6	C	T	T	T	295	23	PRSS35	1	1
MDN1	23195	broad.mit.edu	37	6	90455080	90455080	+	Missense_Mutation	SNP	C	T	T	rs114853466	by1000genomes	TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90455080C>T	uc003pnn.1	-	c.4090G>A	c.(4090-4092)GTG>ATG	p.V1364M		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1364					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)										0.147541	14.437777	21.714967	9	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90455080	90455080	9804	6	C	T	T	T	247	19	MDN1	1	1
C6orf167	253714	broad.mit.edu	37	6	97634528	97634528	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97634528T>C	uc003ppb.2	-	c.2078A>G	c.(2077-2079)GAC>GGC	p.D693G	C6orf167_uc011eaf.1_Missense_Mutation_p.D653G	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	693					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)										0.209677	29.342243	34.182191	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97634528	97634528	2447	6	T	C	C	C	754	58	C6orf167	4	4
ACHE	43	broad.mit.edu	37	7	100490136	100490136	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100490136C>T	uc003uxe.2	-	c.1372G>A	c.(1372-1374)GCC>ACC	p.A458T	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxd.2_Missense_Mutation_p.A458T|ACHE_uc003uxf.2_Missense_Mutation_p.A458T|ACHE_uc003uxg.2_Missense_Mutation_p.A458T|ACHE_uc003uxh.2_Missense_Mutation_p.A370T|ACHE_uc003uxi.2_Missense_Mutation_p.A458T	NM_015831	NP_056646	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E5 precursor	458					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|negative regulation of synaptic transmission, cholinergic|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)									0.5	23.399494	23.399494	8	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100490136	100490136	142	7	C	T	T	T	351	27	ACHE	1	1
DLD	1738	broad.mit.edu	37	7	107557789	107557789	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107557789G>A	uc003vet.2	+	c.1118G>A	c.(1117-1119)TGT>TAT	p.C373Y	DLD_uc011kmg.1_Missense_Mutation_p.C325Y|DLD_uc011kmh.1_Missense_Mutation_p.C350Y|DLD_uc011kmi.1_Missense_Mutation_p.C274Y	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	373					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)									0.290323	48.223047	50.66664	18	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107557789	107557789	4731	7	G	A	A	A	624	48	DLD	2	2
CHRM2	1129	broad.mit.edu	37	7	136700368	136700368	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:136700368C>T	uc003vtf.1	+	c.756C>T	c.(754-756)GAC>GAT	p.D252D	CHRM2_uc003vtg.1_Silent_p.D252D|CHRM2_uc003vtj.1_Silent_p.D252D|CHRM2_uc003vtk.1_Silent_p.D252D|CHRM2_uc003vtl.1_Silent_p.D252D|CHRM2_uc003vtm.1_Silent_p.D252D|CHRM2_uc003vti.1_Silent_p.D252D|CHRM2_uc003vto.1_Silent_p.D252D|CHRM2_uc003vtn.1_Silent_p.D252D	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	252	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)									0.2	13.238532	15.74554	6	24	KEEP	---	---	---	---	capture		Silent	SNP	136700368	136700368	3511	7	C	T	T	T	246	19	CHRM2	1	1
MLL3	58508	broad.mit.edu	37	7	151970911	151970911	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151970911G>T	uc003wla.2	-	c.891C>A	c.(889-891)TGC>TGA	p.C297*		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	297					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)			p.C297C(786O-Tumor)	1780				0.043956	-12.474234	7.789303	4	87	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	151970911	151970911	10012	7	G	T	T	T	438	34	MLL3	5	2
DNAH11	8701	broad.mit.edu	37	7	21737769	21737769	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21737769C>T	uc003svc.2	+	c.6139C>T	c.(6139-6141)CGT>TGT	p.R2047C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2047	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.194444	13.427817	16.54696	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21737769	21737769	4781	7	C	T	T	T	351	27	DNAH11	1	1
DNAH11	8701	broad.mit.edu	37	7	21882362	21882362	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21882362T>G	uc003svc.2	+	c.10913T>G	c.(10912-10914)CTT>CGT	p.L3638R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3638	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.166667	7.218126	9.11045	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21882362	21882362	4781	7	T	G	G	G	728	56	DNAH11	4	4
PCLO	27445	broad.mit.edu	37	7	82582407	82582407	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82582407G>A	uc003uhx.2	-	c.7862C>T	c.(7861-7863)TCT>TTT	p.S2621F	PCLO_uc003uhv.2_Missense_Mutation_p.S2621F|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2552					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.155039	38.61605	53.282077	20	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82582407	82582407	12003	7	G	A	A	A	429	33	PCLO	2	2
SEMA3A	10371	broad.mit.edu	37	7	83640399	83640399	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83640399A>G	uc003uhz.2	-	c.934T>C	c.(934-936)TTC>CTC	p.F312L		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	312	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.151515	11.553743	15.39063	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83640399	83640399	14510	7	A	G	G	G	52	4	SEMA3A	4	4
DLX5	1749	broad.mit.edu	37	7	96653608	96653608	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:96653608G>A	uc003uon.2	-	c.328C>T	c.(328-330)CGC>TGC	p.R110C	DLX5_uc011kim.1_Missense_Mutation_p.R110C	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	110					cell proliferation|endochondral ossification|osteoblast differentiation|regulation of transcription, DNA-dependent	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)													0.176471	5.817696	7.492868	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96653608	96653608	4754	7	G	A	A	A	507	39	DLX5	1	1
OXR1	55074	broad.mit.edu	37	8	107763109	107763109	+	Silent	SNP	T	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:107763109T>C	uc011lht.1	+	c.2565T>C	c.(2563-2565)CGT>CGC	p.R855R	OXR1_uc003ymf.2_Silent_p.R827R|OXR1_uc011lhu.1_Silent_p.R820R|OXR1_uc010mcg.2_Non-coding_Transcript|OXR1_uc010mch.2_Silent_p.R483R|OXR1_uc003ymk.2_Silent_p.R224R|OXR1_uc003yml.2_Silent_p.R197R	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	855					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)											0.160714	17.041289	23.175766	9	47	KEEP	---	---	---	---	capture		Silent	SNP	107763109	107763109	11747	8	T	C	C	C	730	57	OXR1	4	4
FDFT1	2222	broad.mit.edu	37	8	11667355	11667355	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11667355C>A	uc003wuk.2	+	c.554C>A	c.(553-555)CCA>CAA	p.P185Q	FDFT1_uc003wuh.2_Missense_Mutation_p.P62Q|FDFT1_uc010lsa.1_Missense_Mutation_p.P41Q|FDFT1_uc003wui.2_Missense_Mutation_p.P126Q|FDFT1_uc011kxe.1_Missense_Mutation_p.P62Q|FDFT1_uc011kxf.1_Missense_Mutation_p.P126Q|FDFT1_uc011kxg.1_Intron|FDFT1_uc003wuj.2_Missense_Mutation_p.P119Q|FDFT1_uc010lsb.2_Missense_Mutation_p.P62Q|FDFT1_uc011kxh.1_Missense_Mutation_p.P62Q|FDFT1_uc011kxi.1_Non-coding_Transcript|FDFT1_uc011kxj.1_Missense_Mutation_p.P62Q|FDFT1_uc011kxk.1_Missense_Mutation_p.P41Q	NM_004462	NP_004453	P37268	FDFT_HUMAN	squalene synthase	126					cholesterol biosynthetic process|isoprenoid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity				0	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)										0.1875	5.715225	7.178932	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11667355	11667355	6039	8	C	A	A	A	273	21	FDFT1	2	2
PREX2	80243	broad.mit.edu	37	8	69129863	69129863	+	Silent	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:69129863C>T	uc003xxv.1	+	c.4617C>T	c.(4615-4617)AGC>AGT	p.S1539S		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1539					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			large_intestine(4)|pancreas(3)|lung(2)|skin(2)|ovary(1)|kidney(1)	13										1011				0.172414	10.159805	13.097636	5	24	KEEP	---	---	---	---	capture		Silent	SNP	69129863	69129863	12920	8	C	T	T	T	350	27	PREX2	1	1
HEY1	23462	broad.mit.edu	37	8	80679298	80679298	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:80679298G>A	uc003ybl.2	-	c.195C>T	c.(193-195)ATC>ATT	p.I65I	HEY1_uc010lzq.2_5'Flank|HEY1_uc003ybm.2_Silent_p.I65I	NM_001040708	NP_001035798	Q9Y5J3	HEY1_HUMAN	hairy/enhancer-of-split related with YRPW motif	65	Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				angiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|Notch signaling pathway|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			lung(1)	1	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)											0.060345	-8.06284	15.365157	7	109	KEEP	---	---	---	---	capture		Silent	SNP	80679298	80679298	7361	8	G	A	A	A	577	45	HEY1	2	2
SMC2	10592	broad.mit.edu	37	9	106876287	106876287	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:106876287C>G	uc004bbv.2	+	c.1457C>G	c.(1456-1458)TCT>TGT	p.S486C	SMC2_uc004bbu.1_Missense_Mutation_p.S486C|SMC2_uc004bbw.2_Missense_Mutation_p.S486C|SMC2_uc011lvl.1_Missense_Mutation_p.S486C|SMC2_uc004bbx.2_Missense_Mutation_p.S486C	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	486	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|lung(1)|breast(1)	8										1437				0.076271	1.881655	23.583742	9	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106876287	106876287	15281	9	C	G	G	G	416	32	SMC2	3	3
DNAJC25	548645	broad.mit.edu	37	9	114411887	114411887	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114411887G>A	uc004bfl.2	+	c.644G>A	c.(643-645)CGT>CAT	p.R215H	DNAJC25-GNG10_uc004bfn.2_Intron|DNAJC25_uc004bfm.2_Missense_Mutation_p.R93H	NM_001015882	NP_001015882	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	215					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0														0.069767	-1.20987	7.007958	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114411887	114411887	4826	9	G	A	A	A	520	40	DNAJC25	1	1
ALAD	210	broad.mit.edu	37	9	116151291	116151291	+	Silent	SNP	G	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116151291G>C	uc011lxf.1	-	c.897C>G	c.(895-897)GCC>GCG	p.A299A	ALAD_uc011lxe.1_Silent_p.A282A|ALAD_uc004bhl.3_Silent_p.A328A	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	299					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)									0.1875	5.117584	6.579966	3	13	KEEP	---	---	---	---	capture		Silent	SNP	116151291	116151291	486	9	G	C	C	C	496	39	ALAD	3	3
FREM1	158326	broad.mit.edu	37	9	14848754	14848754	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14848754G>A	uc003zlm.2	-	c.1170C>T	c.(1168-1170)TAC>TAT	p.Y390Y	FREM1_uc010mic.2_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	390	CSPG 1.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.362069	57.858617	58.829832	21	37	KEEP	---	---	---	---	capture		Silent	SNP	14848754	14848754	6291	9	G	A	A	A	516	40	FREM1	1	1
FANCG	2189	broad.mit.edu	37	9	35076825	35076825	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35076825T>A	uc003zwb.1	-	c.820A>T	c.(820-822)AAA>TAA	p.K274*	FANCG_uc003zwa.1_Nonsense_Mutation_p.K16*|FANCG_uc010mkj.1_Nonsense_Mutation_p.K16*|FANCG_uc011lot.1_Nonsense_Mutation_p.K274*	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	274	TPR 1.				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)							126				0.082353	-1.730967	13.355199	7	78	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35076825	35076825	5904	9	T	A	A	A	806	62	FANCG	5	3
FRMPD1	22844	broad.mit.edu	37	9	37746019	37746019	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37746019G>A	uc004aag.1	+	c.3990G>A	c.(3988-3990)GGG>GGA	p.G1330G	FRMPD1_uc004aah.1_Silent_p.G1330G	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1330						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7				GBM - Glioblastoma multiforme(29;0.00655)										0.300699	110.681661	115.748929	43	100	KEEP	---	---	---	---	capture		Silent	SNP	37746019	37746019	6307	9	G	A	A	A	522	41	FRMPD1	2	2
DAPK1	1612	broad.mit.edu	37	9	90321154	90321154	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90321154G>A	uc004apc.2	+	c.3168G>A	c.(3166-3168)GCG>GCA	p.A1056A	DAPK1_uc004apd.2_Silent_p.A1056A|DAPK1_uc011ltg.1_Silent_p.A990A|DAPK1_uc011lth.1_Silent_p.A793A|DAPK1_uc004apg.2_Silent_p.A33A	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1056					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade|protein phosphorylation	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2										862				0.222222	8.49599	9.770218	4	14	KEEP	---	---	---	---	capture		Silent	SNP	90321154	90321154	4402	9	G	A	A	A	483	38	DAPK1	1	1
ZNF510	22869	broad.mit.edu	37	9	99522314	99522314	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:99522314C>A	uc004awn.1	-	c.798G>T	c.(796-798)AAG>AAT	p.K266N	ZNF510_uc004awo.1_Missense_Mutation_p.K266N	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	266	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)												0.2	9.059501	11.154614	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99522314	99522314	18548	9	C	A	A	A	311	24	ZNF510	2	2
IL1RAPL2	26280	broad.mit.edu	37	X	104961395	104961395	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:104961395G>A	uc004elz.1	+	c.808G>A	c.(808-810)GGA>AGA	p.G270R		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	270	Ig-like C2-type 3.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3														0.325	115.296379	118.550831	39	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104961395	104961395	7963	23	G	A	A	A	507	39	IL1RAPL2	1	1
ARHGEF6	9459	broad.mit.edu	37	X	135772779	135772779	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135772779C>T	uc004fab.2	-	c.1175G>A	c.(1174-1176)CGG>CAG	p.R392Q	ARHGEF6_uc011mwd.1_Missense_Mutation_p.R265Q|ARHGEF6_uc011mwe.1_Missense_Mutation_p.R238Q	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	392	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.189655	25.998187	31.216771	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135772779	135772779	925	23	C	T	T	T	299	23	ARHGEF6	1	1
GEMIN8	54960	broad.mit.edu	37	X	14038377	14038377	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14038377G>T	uc004cwb.2	-	c.292C>A	c.(292-294)CAG>AAG	p.Q98K	GEMIN8_uc004cwc.2_Missense_Mutation_p.Q98K|GEMIN8_uc004cwd.2_Missense_Mutation_p.Q98K	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	98					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0														0.198473	56.682722	67.764438	26	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14038377	14038377	6602	23	G	T	T	T	598	46	GEMIN8	2	2
MAMLD1	10046	broad.mit.edu	37	X	149638793	149638793	+	Silent	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149638793G>A	uc004fee.1	+	c.948G>A	c.(946-948)GGG>GGA	p.G316G	MAMLD1_uc011mxt.1_Silent_p.G278G|MAMLD1_uc011mxu.1_Silent_p.G291G|MAMLD1_uc011mxv.1_Silent_p.G291G|MAMLD1_uc011mxw.1_Silent_p.G243G	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	316					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)													0.122222	14.017786	26.462542	11	79	KEEP	---	---	---	---	capture		Silent	SNP	149638793	149638793	9591	23	G	A	A	A	561	44	MAMLD1	2	2
CTPS2	56474	broad.mit.edu	37	X	16717205	16717205	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:16717205C>T	uc004cxk.2	-	c.178G>A	c.(178-180)GTC>ATC	p.V60I	CTPS2_uc004cxl.2_Missense_Mutation_p.V60I|CTPS2_uc004cxm.2_Missense_Mutation_p.V60I	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	60					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)													0.2	44.579792	52.524775	19	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16717205	16717205	4182	23	C	T	T	T	247	19	CTPS2	1	1
PTCHD1	139411	broad.mit.edu	37	X	23412133	23412134	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:23412133_23412134TC>AA	uc004dal.3	+	c.2498_2499TC>AA	c.(2497-2499)GTC>GAA	p.V833E		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	833	Helical; (Potential).				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)	5														0.065789	-4.279776	10.583981	5	71	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	23412133	23412134	13186	23	TC	AA	AA	AA	754	58	PTCHD1	3	3
MXRA5	25878	broad.mit.edu	37	X	3241359	3241359	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3241359T>G	uc004crg.3	-	c.2367A>C	c.(2365-2367)AAA>AAC	p.K789N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	789						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.070922	-5.757144	21.014763	10	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3241359	3241359	10397	23	T	G	G	G	725	56	MXRA5	4	4
ZNF157	7712	broad.mit.edu	37	X	47272631	47272631	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47272631G>A	uc004dhr.1	+	c.1159G>A	c.(1159-1161)GAA>AAA	p.E387K		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	387	C2H2-type 9.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.089744	3.071899	16.316629	7	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47272631	47272631	18328	23	G	A	A	A	481	37	ZNF157	1	1
PRICKLE3	4007	broad.mit.edu	37	X	49032614	49032614	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49032614G>T	uc004dmy.1	-	c.1256C>A	c.(1255-1257)GCT>GAT	p.A419D	PRICKLE3_uc011mmv.1_Missense_Mutation_p.A351D|PRICKLE3_uc011mmw.1_Missense_Mutation_p.A338D|PRICKLE3_uc011mmx.1_Missense_Mutation_p.A381D	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	419				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding			breast(1)	1														0.230769	7.220278	8.082399	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49032614	49032614	12931	23	G	T	T	T	442	34	PRICKLE3	2	2
WNK3	65267	broad.mit.edu	37	X	54335697	54335697	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54335697G>T	uc004dtc.1	-	c.762C>A	c.(760-762)TGC>TGA	p.C254*	WNK3_uc004dtd.1_Nonsense_Mutation_p.C254*	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 1	254	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11										290				0.377778	48.664729	49.254173	17	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54335697	54335697	17953	23	G	T	T	T	594	46	WNK3	5	2
ERCC6L	54821	broad.mit.edu	37	X	71425005	71425005	+	Silent	SNP	T	C	C			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:71425005T>C	uc004eaq.1	-	c.3612A>G	c.(3610-3612)GTA>GTG	p.V1204V	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.V1081V	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	1204	TPR 2.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)													0.150685	18.380357	26.914607	11	62	KEEP	---	---	---	---	capture		Silent	SNP	71425005	71425005	5411	23	T	C	C	C	782	61	ERCC6L	4	4
PGAM4	441531	broad.mit.edu	37	X	77225036	77225036	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77225036C>T	uc004ecy.1	-	c.100G>A	c.(100-102)GGC>AGC	p.G34S	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	bisphosphoglycerate mutase 4	34					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0														0.173913	12.875783	17.492481	8	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77225036	77225036	12198	23	C	T	T	T	286	22	PGAM4	2	2
TNRC18	84629	broad.mit.edu	37	7	5352663	5352665	+	In_Frame_Del	DEL	GAT	-	-			TCGA-17-Z037-01	TCGA-17-Z037-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5352663_5352665delGAT	uc003soi.3	-	c.7857_7859delATC	c.(7855-7860)TCATCC>TCC	p.2619_2620SS>S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2619_2620	Ser-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)										0.43			3	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	5352663	5352665	16880	7	GAT	-	-	-	533	41	TNRC18	5	5
