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
CYP17A1	1586	broad.mit.edu	37	10	104594740	104594740	+	Missense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104594740C>A	uc001kwg.2	-	c.468G>T	c.(466-468)ATG>ATT	p.M156I		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	156					androgen biosynthetic process|glucocorticoid biosynthetic process|oxidation-reduction process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)					154		OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.25	63.39724	69.30876	26	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104594740	104594740	4312	10	C	A	A	A	325	25	CYP17A1	2	2
TMEM72	643236	broad.mit.edu	37	10	45429161	45429161	+	Missense_Mutation	SNP	T	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:45429161T>A	uc001jbn.2	+	c.286T>A	c.(286-288)TAC>AAC	p.Y96N	TMEM72_uc009xmm.1_5'UTR	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	96	Helical; (Potential).					integral to membrane					0														0.181818	15.575411	19.759638	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45429161	45429161	16740	10	T	A	A	A	689	53	TMEM72	3	3
PCDH15	65217	broad.mit.edu	37	10	55996691	55996691	+	Nonsense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55996691C>A	uc010qhy.1	-	c.892G>T	c.(892-894)GAA>TAA	p.E298*	PCDH15_uc010qhq.1_Nonsense_Mutation_p.E298*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.E298*|PCDH15_uc010qht.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.E293*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.E271*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.E256*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qia.1_Nonsense_Mutation_p.E271*|PCDH15_uc001jju.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qib.1_Nonsense_Mutation_p.E271*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.E293*	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	293	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.287356	61.182883	64.686321	25	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55996691	55996691	11931	10	C	A	A	A	390	30	PCDH15	5	2
DYDC2	84332	broad.mit.edu	37	10	82126540	82126540	+	Missense_Mutation	SNP	C	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:82126540C>G	uc001kca.1	+	c.367C>G	c.(367-369)CCA>GCA	p.P123A	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.P123A	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	123							protein binding				0			Colorectal(32;0.229)											0.339286	124.916498	127.47371	38	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82126540	82126540	5025	10	C	G	G	G	338	26	DYDC2	3	3
MUC6	4588	broad.mit.edu	37	11	1018143	1018143	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1018143C>T	uc001lsw.2	-	c.4658G>A	c.(4657-4659)CGC>CAC	p.R1553H		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1553	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.22	97.589893	112.038937	44	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1018143	1018143	10374	11	C	T	T	T	351	27	MUC6	1	1
ZC3H12C	85463	broad.mit.edu	37	11	110007729	110007729	+	Silent	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:110007729C>T	uc010rwc.1	+	c.366C>T	c.(364-366)TGC>TGT	p.C122C	ZC3H12C_uc009yxw.2_Silent_p.C121C|ZC3H12C_uc010rwd.1_Silent_p.C122C|ZC3H12C_uc001pkr.3_Silent_p.C90C|ZC3H12C_uc001pkq.2_Silent_p.C90C	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	121							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)										0.28	16.215179	17.302906	7	18	KEEP	---	---	---	---	capture		Silent	SNP	110007729	110007729	18151	11	C	T	T	T	324	25	ZC3H12C	2	2
ABCG4	64137	broad.mit.edu	37	11	119024780	119024780	+	Silent	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119024780C>A	uc001pvs.2	+	c.283C>A	c.(283-285)CGG>AGG	p.R95R	ABCG4_uc009zar.2_Silent_p.R95R|ABCG4_uc001pvt.1_Non-coding_Transcript	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	95	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)										0.29	80.956844	84.895608	29	71	KEEP	---	---	---	---	capture		Silent	SNP	119024780	119024780	71	11	C	A	A	A	295	23	ABCG4	1	1
OR10G9	219870	broad.mit.edu	37	11	123894107	123894107	+	Missense_Mutation	SNP	A	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123894107A>T	uc010sad.1	+	c.388A>T	c.(388-390)AGG>TGG	p.R130W		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)										0.346457	128.656319	131.301859	44	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123894107	123894107	11310	11	A	T	T	T	88	7	OR10G9	3	3
CARS	833	broad.mit.edu	37	11	3041474	3041474	+	Silent	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:3041474C>A	uc001lxf.2	-	c.1242G>T	c.(1240-1242)CCG>CCT	p.P414P	CARS_uc001lxe.2_Silent_p.P321P|CARS_uc001lxg.2_Silent_p.P331P|CARS_uc001lxh.2_Silent_p.P331P|CARS_uc010qxo.1_Silent_p.P414P|CARS_uc010qxp.1_Silent_p.P344P	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform c	331					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	Ovarian(61;932 1157 5961 20446 52152)				822				0.219178	80.739959	91.333375	32	114	KEEP	---	---	---	---	capture		Silent	SNP	3041474	3041474	2776	11	C	A	A	A	236	19	CARS	1	1
OR52I1	390037	broad.mit.edu	37	11	4615507	4615507	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4615507C>T	uc010qyi.1	+	c.239C>T	c.(238-240)TCC>TTC	p.S80F		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.291262	81.407439	85.428275	30	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4615507	4615507	11530	11	C	T	T	T	390	30	OR52I1	2	2
OR52N4	390072	broad.mit.edu	37	11	5776193	5776193	+	Missense_Mutation	SNP	A	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5776193A>T	uc001mbu.2	+	c.223A>T	c.(223-225)ATG>TTG	p.M75L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)										0.402985	82.112973	82.663842	27	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5776193	5776193	11539	11	A	T	T	T	208	16	OR52N4	3	3
OR5B3	441608	broad.mit.edu	37	11	58170746	58170746	+	Nonsense_Mutation	SNP	A	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58170746A>T	uc010rkf.1	-	c.137T>A	c.(136-138)TTG>TAG	p.L46*		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	46	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.361446	90.880618	92.301518	30	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58170746	58170746	11562	11	A	T	T	T	65	5	OR5B3	5	3
NLRP14	338323	broad.mit.edu	37	11	7064233	7064233	+	Missense_Mutation	SNP	G	C	C			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7064233G>C	uc001mfb.1	+	c.976G>C	c.(976-978)GAG>CAG	p.E326Q		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	326	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)										0.201923	58.016198	66.599987	21	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7064233	7064233	10879	11	G	C	C	C	429	33	NLRP14	3	3
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|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.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|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)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.190476	9.08683	10.96818	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43777759	43777759	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43777759C>T	uc010skx.1	-	c.4474G>A	c.(4474-4476)GGA>AGA	p.G1492R		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1492	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.3125	27.437907	28.439661	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43777759	43777759	267	12	C	T	T	T	273	21	ADAMTS20	2	2
ARID2	196528	broad.mit.edu	37	12	46244361	46244361	+	Nonsense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46244361C>T	uc001ros.1	+	c.2455C>T	c.(2455-2457)CAA>TAA	p.Q819*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q819*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q275*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q446*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q153*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	819	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(1)	7	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)										0.4	29.143842	29.362827	10	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46244361	46244361	930	12	C	T	T	T	377	29	ARID2	5	2
CALCOCO1	57658	broad.mit.edu	37	12	54109766	54109766	+	Silent	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54109766C>T	uc001sef.2	-	c.1071G>A	c.(1069-1071)CAG>CAA	p.Q357Q	CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Silent_p.Q272Q|CALCOCO1_uc010son.1_Silent_p.Q234Q|CALCOCO1_uc001seh.2_Silent_p.Q357Q|CALCOCO1_uc009znd.2_Silent_p.Q357Q|CALCOCO1_uc001seg.2_Silent_p.Q182Q|CALCOCO1_uc010soo.1_Silent_p.Q350Q	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	357					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1														0.676471	76.134704	77.073736	23	11	KEEP	---	---	---	---	capture		Silent	SNP	54109766	54109766	2693	12	C	T	T	T	415	32	CALCOCO1	2	2
HSD17B6	8630	broad.mit.edu	37	12	57178691	57178691	+	Missense_Mutation	SNP	C	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57178691C>G	uc001smg.1	+	c.627C>G	c.(625-627)TTC>TTG	p.F209L		NM_003725	NP_003716	O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	209					androgen biosynthetic process|androgen catabolic process|oxidation-reduction process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase activity			pancreas(1)	1					Succinic acid(DB00139)									0.351562	153.939284	156.425896	45	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57178691	57178691	7682	12	C	G	G	G	376	29	HSD17B6	3	3
ADPRHL1	113622	broad.mit.edu	37	13	114107634	114107634	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114107634G>A	uc001vtq.1	-	c.119C>T	c.(118-120)TCC>TTC	p.S40F		NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	40					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)											0.147727	21.812348	32.303433	13	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114107634	114107634	333	13	G	A	A	A	533	41	ADPRHL1	2	2
MIPEP	4285	broad.mit.edu	37	13	24444289	24444289	+	Missense_Mutation	SNP	T	C	C			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:24444289T>C	uc001uox.3	-	c.649A>G	c.(649-651)AGT>GGT	p.S217G		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	217					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)										0.307692	40.487032	41.771746	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24444289	24444289	9982	13	T	C	C	C	689	53	MIPEP	4	4
ATP8A2	51761	broad.mit.edu	37	13	26129181	26129181	+	Nonsense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:26129181C>A	uc001uqk.2	+	c.1238C>A	c.(1237-1239)TCA>TAA	p.S413*	ATP8A2_uc010tdi.1_Nonsense_Mutation_p.S373*|ATP8A2_uc010tdj.1_Non-coding_Transcript|ATP8A2_uc001uql.1_Nonsense_Mutation_p.S373*	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	373	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.277778	51.865241	55.06693	20	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	26129181	26129181	1212	13	C	A	A	A	377	29	ATP8A2	5	2
AKAP11	11215	broad.mit.edu	37	13	42876365	42876365	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:42876365G>T	uc001uys.1	+	c.3483G>T	c.(3481-3483)GAG>GAT	p.E1161D		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1161					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)										0.338235	69.803583	71.377373	23	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42876365	42876365	450	13	G	T	T	T	464	36	AKAP11	2	2
DCT	1638	broad.mit.edu	37	13	95114416	95114416	+	Silent	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:95114416G>T	uc010afh.2	-	c.891C>A	c.(889-891)ACC>ACA	p.T297T	DCT_uc001vlv.3_Silent_p.T297T	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 2	297	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)										0.16	14.766616	20.271755	8	42	KEEP	---	---	---	---	capture		Silent	SNP	95114416	95114416	4475	13	G	T	T	T	444	35	DCT	2	2
KIF26A	26153	broad.mit.edu	37	14	104642378	104642378	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:104642378G>T	uc001yos.3	+	c.3253G>T	c.(3253-3255)GCC>TCC	p.A1085S		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1085					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)										0.428571	8.424327	8.455342	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104642378	104642378	8605	14	G	T	T	T	494	38	KIF26A	1	1
ZNF770	54989	broad.mit.edu	37	15	35274098	35274098	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35274098C>T	uc001ziw.2	-	c.1538G>A	c.(1537-1539)AGA>AAA	p.R513K		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	513	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)										0.290909	45.976318	48.131305	16	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35274098	35274098	18741	15	C	T	T	T	416	32	ZNF770	2	2
ZNF770	54989	broad.mit.edu	37	15	35274816	35274816	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35274816C>T	uc001ziw.2	-	c.820G>A	c.(820-822)GAG>AAG	p.E274K		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)										0.194444	14.804568	17.93993	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35274816	35274816	18741	15	C	T	T	T	377	29	ZNF770	2	2
CASC5	57082	broad.mit.edu	37	15	40917230	40917231	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40917230_40917231GG>TT	uc010bbs.1	+	c.4846_4847GG>TT	c.(4846-4848)GGA>TTA	p.G1616L	CASC5_uc010ucq.1_Missense_Mutation_p.G1440L|CASC5_uc001zme.2_Missense_Mutation_p.G1590L|CASC5_uc010bbt.1_Missense_Mutation_p.G1590L	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1616					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)	2		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)						629				0.170732	14.601367	18.803579	7	34	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	40917230	40917231	2782	15	GG	TT	TT	TT	455	35	CASC5	2	2
SPPL2A	84888	broad.mit.edu	37	15	51032016	51032016	+	Silent	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:51032016C>T	uc001zyv.2	-	c.594G>A	c.(592-594)TTG>TTA	p.L198L		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	signal peptide peptidase-like 2A	198						integral to membrane	aspartic-type endopeptidase activity				0				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		Melanoma(50;790 1209 4069 22965 33125)								0.333333	21.189625	21.781228	8	16	KEEP	---	---	---	---	capture		Silent	SNP	51032016	51032016	15601	15	C	T	T	T	376	29	SPPL2A	2	2
BNC1	646	broad.mit.edu	37	15	83932641	83932641	+	Silent	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83932641G>A	uc002bjt.1	-	c.1362C>T	c.(1360-1362)CCC>CCT	p.P454P	BNC1_uc010uos.1_Silent_p.P442P	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	454					epidermis development|positive regulation of cell proliferation|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.26506	55.26927	59.374998	22	61	KEEP	---	---	---	---	capture		Silent	SNP	83932641	83932641	1499	15	G	A	A	A	600	47	BNC1	2	2
XYLT1	64131	broad.mit.edu	37	16	17202725	17202725	+	Missense_Mutation	SNP	C	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:17202725C>G	uc002dfa.2	-	c.2707G>C	c.(2707-2709)GAG>CAG	p.E903Q		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	903	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.202381	48.932009	55.838627	17	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17202725	17202725	18046	16	C	G	G	G	390	30	XYLT1	3	3
DCI	1632	broad.mit.edu	37	16	2293439	2293439	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2293439C>T	uc002cpr.2	-	c.443G>A	c.(442-444)GGA>GAA	p.G148E	DCI_uc002cps.2_Missense_Mutation_p.G148E	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	148					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0														0.283582	48.399339	51.219099	19	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2293439	2293439	4460	16	C	T	T	T	390	30	DCI	2	2
TAOK2	9344	broad.mit.edu	37	16	29997963	29997963	+	Silent	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29997963C>T	uc010bzm.1	+	c.2391C>T	c.(2389-2391)GGC>GGT	p.G797G	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dva.1_Silent_p.G790G|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc002dvd.1_Silent_p.G617G	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	790					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1										143				0.309524	100.895821	104.959607	39	87	KEEP	---	---	---	---	capture		Silent	SNP	29997963	29997963	16069	16	C	T	T	T	340	27	TAOK2	1	1
SALL1	6299	broad.mit.edu	37	16	51173710	51173710	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51173710G>T	uc010vgs.1	-	c.2423C>A	c.(2422-2424)TCT>TAT	p.S808Y	SALL1_uc010vgr.1_Missense_Mutation_p.S711Y|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	808					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.272727	86.728199	92.884335	36	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51173710	51173710	14290	16	G	T	T	T	429	33	SALL1	2	2
COX4I1	1327	broad.mit.edu	37	16	85838571	85838571	+	Silent	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:85838571G>A	uc002fje.2	+	c.102G>A	c.(100-102)TCG>TCA	p.S34S	COX4I1_uc002fjf.2_Silent_p.S34S|COX4I1_uc002fjg.1_Silent_p.S34S|COX4I1_uc010vom.1_5'UTR	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	34					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)												0.321429	47.72353	49.313339	18	38	KEEP	---	---	---	---	capture		Silent	SNP	85838571	85838571	3907	16	G	A	A	A	483	38	COX4I1	1	1
SLFN12	55106	broad.mit.edu	37	17	33749265	33749265	+	Missense_Mutation	SNP	T	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33749265T>A	uc002hji.3	-	c.783A>T	c.(781-783)GAA>GAT	p.E261D	SLFN12_uc002hjj.3_Missense_Mutation_p.E261D|SLFN12_uc010cts.2_Missense_Mutation_p.E261D	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	261							ATP binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.333333	54.277719	55.754897	20	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33749265	33749265	15231	17	T	A	A	A	829	64	SLFN12	3	3
MED1	5469	broad.mit.edu	37	17	37564758	37564758	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37564758G>A	uc002hrv.3	-	c.3716C>T	c.(3715-3717)TCA>TTA	p.S1239L	MED1_uc010wee.1_Missense_Mutation_p.S1067L|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1239	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|kidney(1)	2		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		Pancreas(21;279 768 2492 4877 24026)								0.315068	59.686209	61.914596	23	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37564758	37564758	9814	17	G	A	A	A	585	45	MED1	2	2
TMEM99	147184	broad.mit.edu	37	17	38991095	38991095	+	Silent	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38991095C>T	uc002hvj.1	+	c.327C>T	c.(325-327)TTC>TTT	p.F109F		NM_145274	NP_660317	Q8N816	TMM99_HUMAN	transmembrane protein 99 precursor	109	Helical; (Potential).					integral to membrane					0		Breast(137;0.000301)												0.337079	77.124334	79.264326	30	59	KEEP	---	---	---	---	capture		Silent	SNP	38991095	38991095	16766	17	C	T	T	T	376	29	TMEM99	2	2
VPS53	55275	broad.mit.edu	37	17	534814	534814	+	Missense_Mutation	SNP	T	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:534814T>A	uc010cjo.1	-	c.663A>T	c.(661-663)GAA>GAT	p.E221D	VPS53_uc002frk.2_De_novo_Start_OutOfFrame|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.E192D|VPS53_uc002frn.2_Missense_Mutation_p.E221D|VPS53_uc002fro.2_Missense_Mutation_p.E23D|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 1	221					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)										0.261538	42.444399	45.790027	17	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	534814	534814	17782	17	T	A	A	A	725	56	VPS53	3	3
C17orf70	80233	broad.mit.edu	37	17	79517503	79517503	+	Silent	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79517503C>T	uc002kaq.2	-	c.1017G>A	c.(1015-1017)CGG>CGA	p.R339R	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.2_Silent_p.R188R	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	339					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)	1	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)											0.333333	55.406419	56.808445	19	38	KEEP	---	---	---	---	capture		Silent	SNP	79517503	79517503	1934	17	C	T	T	T	275	22	C17orf70	2	2
RAB31	11031	broad.mit.edu	37	18	9814045	9814045	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:9814045G>A	uc002kog.2	+	c.230G>A	c.(229-231)CGA>CAA	p.R77Q		NM_006868	NP_006859	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	76					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1														0.5	9.240578	9.240578	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9814045	9814045	13379	18	G	A	A	A	481	37	RAB31	1	1
KEAP1	9817	broad.mit.edu	37	19	10600510	10600510	+	Nonsense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10600510C>A	uc002moq.1	-	c.1345G>T	c.(1345-1347)GAG>TAG	p.E449*	KEAP1_uc002mop.1_Nonsense_Mutation_p.E167*|KEAP1_uc002mor.1_Nonsense_Mutation_p.E449*	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	449	Kelch 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.529412	28.074781	28.087474	9	8	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10600510	10600510	8447	19	C	A	A	A	377	29	KEAP1	5	2
STK11	6794	broad.mit.edu	37	19	1220717	1220717	+	Splice_Site_SNP	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1220717G>T	uc002lrl.1	+	c.734_splice	c.e5+1	p.L245_splice		NM_000455	NP_000446			serine/threonine protein kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|protein phosphorylation|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.?(1)		lung(162)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|ovary(4)|stomach(3)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|breast(1)|oesophagus(1)|prostate(1)|kidney(1)	252		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)				14		1341	TSP Lung(3;<1E-8)			0.55	35.625855	35.669261	11	9	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	1220717	1220717	15807	19	G	T	T	T	624	48	STK11	5	2
PSG3	5671	broad.mit.edu	37	19	43236960	43236960	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43236960C>T	uc010eil.2	-	c.751G>A	c.(751-753)GAC>AAC	p.D251N	PSG3_uc002ouf.2_Non-coding_Transcript|PSG1_uc002oug.1_Intron|PSG3_uc002oue.2_Missense_Mutation_p.D229N	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	229	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.189274	117.946	146.559338	60	257	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43236960	43236960	13109	19	C	T	T	T	377	29	PSG3	2	2
PLIN4	729359	broad.mit.edu	37	19	4512261	4512261	+	Missense_Mutation	SNP	C	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4512261C>G	uc002mar.1	-	c.1669G>C	c.(1669-1671)GGG>CGG	p.G557R	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	557	27 X 33 AA approximate tandem repeat.|15.					lipid particle|plasma membrane					0														0.333333	157.980822	161.741313	51	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4512261	4512261	12518	19	C	G	G	G	273	21	PLIN4	3	3
NLRP5	126206	broad.mit.edu	37	19	56539676	56539676	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56539676G>A	uc002qmj.2	+	c.2077G>A	c.(2077-2079)GAG>AAG	p.E693K	NLRP5_uc002qmi.2_Missense_Mutation_p.E674K	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	693						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)										0.309859	119.947794	124.521395	44	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56539676	56539676	10883	19	G	A	A	A	481	37	NLRP5	1	1
ZNF304	57343	broad.mit.edu	37	19	57868090	57868090	+	Nonsense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57868090G>T	uc010etw.2	+	c.994G>T	c.(994-996)GGA>TGA	p.G332*	ZNF304_uc010ygw.1_Nonsense_Mutation_p.G285*|ZNF304_uc010etx.2_Nonsense_Mutation_p.G243*	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	285	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)										0.285714	38.646154	40.655364	14	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57868090	57868090	18425	19	G	T	T	T	611	47	ZNF304	5	2
OR1M1	125963	broad.mit.edu	37	19	9203982	9203982	+	Missense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9203982C>A	uc010xkj.1	+	c.62C>A	c.(61-63)CCA>CAA	p.P21Q		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.693878	114.067307	115.709277	34	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9203982	9203982	11374	19	C	A	A	A	273	21	OR1M1	2	2
SH2D2A	9047	broad.mit.edu	37	1	156779054	156779054	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156779054C>T	uc009wsh.2	-	c.973G>A	c.(973-975)GCC>ACC	p.A325T	SH2D2A_uc001fqc.1_Missense_Mutation_p.A287T|SH2D2A_uc001fqd.2_Missense_Mutation_p.A315T|SH2D2A_uc001fqe.2_Missense_Mutation_p.A297T|SH2D2A_uc010phs.1_Missense_Mutation_p.A315T	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 1	315	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				0.191045	124.503043	154.42232	64	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156779054	156779054	14723	1	C	T	T	T	351	27	SH2D2A	1	1
SPTA1	6708	broad.mit.edu	37	1	158590009	158590009	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158590009G>T	uc001fst.1	-	c.6368C>A	c.(6367-6369)ACA>AAA	p.T2123K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2123	Spectrin 20.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.464	189.842298	189.983004	58	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158590009	158590009	15630	1	G	T	T	T	624	48	SPTA1	2	2
ADAMTS4	9507	broad.mit.edu	37	1	161166644	161166644	+	Silent	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161166644C>T	uc001fyt.3	-	c.660G>A	c.(658-660)GTG>GTA	p.V220V	ADAMTS4_uc001fyu.2_Silent_p.V220V|NDUFS2_uc001fyv.2_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	220	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											0.399371	363.834782	366.658366	127	191	KEEP	---	---	---	---	capture		Silent	SNP	161166644	161166644	269	1	C	T	T	T	262	21	ADAMTS4	2	2
SELP	6403	broad.mit.edu	37	1	169580746	169580746	+	Silent	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169580746G>T	uc001ggi.3	-	c.1131C>A	c.(1129-1131)CCC>CCA	p.P377P	SELP_uc001ggh.2_Silent_p.P212P|SELP_uc009wvr.2_Silent_p.P377P	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	377	Sushi 3.|Extracellular (Potential).				defense response to Gram-negative bacterium|platelet activation|platelet degranulation|positive regulation of platelet activation|response to lipopolysaccharide	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)	2	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)									0.173913	36.830585	48.374233	20	95	KEEP	---	---	---	---	capture		Silent	SNP	169580746	169580746	14505	1	G	T	T	T	444	35	SELP	2	2
PAPPA2	60676	broad.mit.edu	37	1	176526072	176526072	+	Missense_Mutation	SNP	G	C	C			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176526072G>C	uc001gkz.2	+	c.614G>C	c.(613-615)CGG>CCG	p.R205P	PAPPA2_uc001gky.1_Missense_Mutation_p.R205P|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	205					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.468354	234.426038	234.562924	74	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176526072	176526072	11850	1	G	C	C	C	507	39	PAPPA2	3	3
CACNA1E	777	broad.mit.edu	37	1	181708376	181708376	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181708376G>T	uc001gow.2	+	c.3706G>T	c.(3706-3708)GCC>TCC	p.A1236S	CACNA1E_uc009wxs.2_Missense_Mutation_p.A1124S|CACNA1E_uc001gox.1_Missense_Mutation_p.A462S|CACNA1E_uc009wxt.2_Missense_Mutation_p.A462S	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1236	III.|Helical; Name=S3 of repeat III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.471503	282.223041	282.357655	91	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181708376	181708376	2658	1	G	T	T	T	546	42	CACNA1E	2	2
ZNF648	127665	broad.mit.edu	37	1	182026337	182026337	+	Missense_Mutation	SNP	T	C	C			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182026337T>C	uc001goz.2	-	c.809A>G	c.(808-810)GAG>GGG	p.E270G		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						NSCLC(71;908 1374 5429 20458 35642)								0.181818	5.643795	6.689418	2	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182026337	182026337	18658	1	T	C	C	C	702	54	ZNF648	4	4
PTGS2	5743	broad.mit.edu	37	1	186643668	186643668	+	Silent	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186643668G>A	uc001gsb.2	-	c.1632C>T	c.(1630-1632)ATC>ATT	p.I544I	PTGS2_uc009wyo.2_Silent_p.I391I	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	544					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|oxidation-reduction process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)					279				0.236641	71.251578	79.563561	31	100	KEEP	---	---	---	---	capture		Silent	SNP	186643668	186643668	13211	1	G	A	A	A	577	45	PTGS2	2	2
LRRN2	10446	broad.mit.edu	37	1	204589053	204589053	+	Missense_Mutation	SNP	A	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204589053A>G	uc001hbe.1	-	c.68T>C	c.(67-69)GTA>GCA	p.V23A	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.V23A|LRRN2_uc009xbf.1_Missense_Mutation_p.V23A|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	23	Extracellular (Potential).|LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)											0.366667	36.321143	36.788386	11	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204589053	204589053	9411	1	A	G	G	G	182	14	LRRN2	4	4
C1orf116	79098	broad.mit.edu	37	1	207200842	207200842	+	Silent	SNP	T	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207200842T>A	uc001hfd.2	-	c.102A>T	c.(100-102)GGA>GGT	p.G34G	C1orf116_uc009xcb.1_Intron	NM_023938	NP_076427	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	34						cytoplasm|plasma membrane	receptor activity			ovary(1)|central_nervous_system(1)	2	Prostate(682;0.19)													0.178295	47.9542	60.526027	23	106	KEEP	---	---	---	---	capture		Silent	SNP	207200842	207200842	2056	1	T	A	A	A	639	50	C1orf116	3	3
USH2A	7399	broad.mit.edu	37	1	215807951	215807951	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215807951C>T	uc001hku.1	-	c.15147G>A	c.(15145-15147)ATG>ATA	p.M5049I		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	5049	Helical; (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.218543	72.886269	83.916679	33	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215807951	215807951	17598	1	C	T	T	T	325	25	USH2A	2	2
HLX	3142	broad.mit.edu	37	1	221055574	221055574	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:221055574G>T	uc001hmv.3	+	c.841G>T	c.(841-843)GCT>TCT	p.A281S		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	281	Homeobox.				cell differentiation|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)										0.348485	67.804484	69.141931	23	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	221055574	221055574	7507	1	G	T	T	T	494	38	HLX	1	1
FMN2	56776	broad.mit.edu	37	1	240421306	240421306	+	Missense_Mutation	SNP	A	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240421306A>G	uc010pye.1	+	c.4139A>G	c.(4138-4140)CAT>CGT	p.H1380R	FMN2_uc010pyd.1_Missense_Mutation_p.H1376R|FMN2_uc010pyf.1_Missense_Mutation_p.H22R|FMN2_uc010pyg.1_Intron	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1376	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.144928	18.604051	26.973423	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240421306	240421306	6192	1	A	G	G	G	104	8	FMN2	4	4
OR2W3	343171	broad.mit.edu	37	1	248059823	248059823	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059823G>T	uc001idp.1	+	c.935G>T	c.(934-936)GGA>GTA	p.G312V	OR2W3_uc010pzb.1_Missense_Mutation_p.G312V	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.446429	71.766322	71.906424	25	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248059823	248059823	11439	1	G	T	T	T	533	41	OR2W3	2	2
OR2T4	127074	broad.mit.edu	37	1	248525231	248525231	+	Missense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248525231C>A	uc001ieh.1	+	c.349C>A	c.(349-351)CAG>AAG	p.Q117K		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	117	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	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)											0.478927	383.530908	383.633103	125	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248525231	248525231	11433	1	C	A	A	A	273	21	OR2T4	2	2
C8A	731	broad.mit.edu	37	1	57349288	57349288	+	Silent	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57349288G>T	uc001cyo.2	+	c.789G>T	c.(787-789)GTG>GTT	p.V263V		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	263	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)	2														0.291667	37.430595	39.296672	14	34	KEEP	---	---	---	---	capture		Silent	SNP	57349288	57349288	2525	1	G	T	T	T	600	47	C8A	2	2
TMEM90B	79953	broad.mit.edu	37	20	24524025	24524025	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:24524025G>A	uc002wtw.1	+	c.292G>A	c.(292-294)GTG>ATG	p.V98M		NM_024893	NP_079169	Q9H7V2	TM90B_HUMAN	transmembrane protein 90B	98	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				lung(1)	1														0.352381	102.446312	104.462809	37	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24524025	24524025	16759	20	G	A	A	A	520	40	TMEM90B	1	1
DEFB116	245930	broad.mit.edu	37	20	29891023	29891023	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:29891023G>T	uc010ztm.1	-	c.301C>A	c.(301-303)CAC>AAC	p.H101N		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	beta-defensin 116 precursor	101					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)											0.259259	54.23483	58.488515	21	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29891023	29891023	4582	20	G	T	T	T	585	45	DEFB116	2	2
SLC32A1	140679	broad.mit.edu	37	20	37356981	37356981	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37356981G>T	uc002xjc.2	+	c.1277G>T	c.(1276-1278)GGG>GTG	p.G426V		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	426	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)									0.193548	12.192454	14.864795	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37356981	37356981	15062	20	G	T	T	T	559	43	SLC32A1	2	2
PROKR2	128674	broad.mit.edu	37	20	5283318	5283318	+	Missense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5283318C>A	uc010zqw.1	-	c.523G>T	c.(523-525)GCC>TCC	p.A175S	PROKR2_uc010zqx.1_Missense_Mutation_p.A175S|PROKR2_uc010zqy.1_Missense_Mutation_p.A175S	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	175	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.257576	95.495998	102.521246	34	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5283318	5283318	12996	20	C	A	A	A	351	27	PROKR2	1	1
COL9A3	1299	broad.mit.edu	37	20	61460132	61460132	+	Missense_Mutation	SNP	A	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61460132A>T	uc002ydm.2	+	c.917A>T	c.(916-918)GAC>GTC	p.D306V		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	306	Triple-helical region 3 (COL3).				axon guidance	collagen type IX	extracellular matrix structural constituent conferring tensile strength				0	Breast(26;5.68e-08)													0.297297	26.210142	27.570554	11	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61460132	61460132	3847	20	A	T	T	T	130	10	COL9A3	3	3
EEF1A2	1917	broad.mit.edu	37	20	62121879	62121879	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62121879C>T	uc002yfd.1	-	c.982G>A	c.(982-984)GAC>AAC	p.D328N	EEF1A2_uc002yfe.1_Missense_Mutation_p.D328N|EEF1A2_uc010gkg.1_Missense_Mutation_p.D328N	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	328						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)											0.384615	44.216155	44.671238	15	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62121879	62121879	5111	20	C	T	T	T	390	30	EEF1A2	2	2
CECR2	27443	broad.mit.edu	37	22	17983959	17983959	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17983959C>T	uc010gqw.1	+	c.655C>T	c.(655-657)CGC>TGC	p.R219C	CECR2_uc010gqv.1_Missense_Mutation_p.R98C|CECR2_uc002zml.2_Missense_Mutation_p.R98C|CECR2_uc002zmm.1_Missense_Mutation_p.R98C	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	261					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)										0.23301	60.054271	66.770731	24	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17983959	17983959	3339	22	C	T	T	T	403	31	CECR2	1	1
CHKB	1120	broad.mit.edu	37	22	51018161	51018161	+	Silent	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:51018161G>A	uc003bms.2	-	c.1026C>T	c.(1024-1026)GTC>GTT	p.V342V	CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Silent_p.V133V|CHKB-CPT1B_uc003bmu.2_Silent_p.V221V|CHKB_uc003bmv.2_Silent_p.V342V	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	342					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)									0.288462	74.172181	78.37048	30	74	KEEP	---	---	---	---	capture		Silent	SNP	51018161	51018161	3482	22	G	A	A	A	574	45	CHKB	2	2
IL1R2	7850	broad.mit.edu	37	2	102641036	102641036	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:102641036G>A	uc002tbm.2	+	c.793G>A	c.(793-795)GGC>AGC	p.G265S	IL1R2_uc002tbn.2_Missense_Mutation_p.G265S|IL1R2_uc002tbo.1_Missense_Mutation_p.G265S	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	265	Extracellular (Potential).|Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity				0					Anakinra(DB00026)	Pancreas(106;189 1628 2302 5133 12295)				365				0.369565	48.562567	49.250491	17	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102641036	102641036	7960	2	G	A	A	A	507	39	IL1R2	1	1
SULT1C3	442038	broad.mit.edu	37	2	108881397	108881397	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:108881397G>T	uc010ywo.1	+	c.738G>T	c.(736-738)ATG>ATT	p.M246I		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	246						cytoplasm	alcohol sulfotransferase activity				0														0.3	56.545593	59.048501	21	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108881397	108881397	15898	2	G	T	T	T	585	45	SULT1C3	2	2
DPP10	57628	broad.mit.edu	37	2	116497337	116497337	+	Missense_Mutation	SNP	C	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:116497337C>G	uc002tle.2	+	c.732C>G	c.(730-732)ATC>ATG	p.I244M	DPP10_uc002tla.1_Missense_Mutation_p.I240M|DPP10_uc002tlb.1_Missense_Mutation_p.I190M|DPP10_uc002tlc.1_Missense_Mutation_p.I236M|DPP10_uc002tlf.1_Missense_Mutation_p.I233M	NM_001004360	NP_001004360	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform short	240	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|breast(1)|skin(1)	9														0.303797	78.679227	81.387753	24	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116497337	116497337	4911	2	C	G	G	G	395	31	DPP10	3	3
GREB1	9687	broad.mit.edu	37	2	11720872	11720872	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11720872C>T	uc002rbk.1	+	c.815C>T	c.(814-816)CCG>CTG	p.P272L	GREB1_uc002rbl.2_Missense_Mutation_p.P272L|GREB1_uc002rbm.2_Missense_Mutation_p.P162L|GREB1_uc002rbn.1_Missense_Mutation_p.P272L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	272						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		Ovarian(39;850 945 2785 23371 33093)								0.340426	93.67156	95.787127	32	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11720872	11720872	7037	2	C	T	T	T	299	23	GREB1	1	1
LRP1B	53353	broad.mit.edu	37	2	141055419	141055419	+	Missense_Mutation	SNP	A	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141055419A>T	uc002tvj.1	-	c.12925T>A	c.(12925-12927)TGC>AGC	p.C4309S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4309	Extracellular (Potential).|EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.236181	119.028458	131.687879	47	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141055419	141055419	9328	2	A	T	T	T	91	7	LRP1B	3	3
LRP1B	53353	broad.mit.edu	37	2	141946049	141946049	+	Silent	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141946049G>T	uc002tvj.1	-	c.954C>A	c.(952-954)GTC>GTA	p.V318V	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	318	Extracellular (Potential).|LDL-receptor class B 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.340909	41.212095	42.196027	15	29	KEEP	---	---	---	---	capture		Silent	SNP	141946049	141946049	9328	2	G	T	T	T	574	45	LRP1B	2	2
TTN	7273	broad.mit.edu	37	2	179407873	179407873	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179407873C>T	uc010zfg.1	-	c.89123G>A	c.(89122-89124)AGA>AAA	p.R29708K	TTN_uc010zfh.1_Missense_Mutation_p.R23403K|TTN_uc010zfi.1_Missense_Mutation_p.R23336K|TTN_uc010zfj.1_Missense_Mutation_p.R23211K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3478										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.210526	88.739433	101.970002	36	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179407873	179407873	17290	2	C	T	T	T	416	32	TTN	2	2
FARSB	10056	broad.mit.edu	37	2	223489197	223489197	+	Missense_Mutation	SNP	C	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:223489197C>G	uc010zlq.1	-	c.1024G>C	c.(1024-1026)GAA>CAA	p.E342Q	FARSB_uc002vne.1_Missense_Mutation_p.E322Q|FARSB_uc002vnf.1_Missense_Mutation_p.E223Q	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	322	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)									0.388889	23.922583	24.116728	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223489197	223489197	5916	2	C	G	G	G	416	32	FARSB	3	3
NEU2	4759	broad.mit.edu	37	2	233897387	233897387	+	Silent	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233897387G>A	uc010zmn.1	+	c.6G>A	c.(4-6)GCG>GCA	p.A2A		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	2							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)										0.352459	115.580888	117.926061	43	79	KEEP	---	---	---	---	capture		Silent	SNP	233897387	233897387	10741	2	G	A	A	A	509	40	NEU2	1	1
ANO7	50636	broad.mit.edu	37	2	242141661	242141661	+	Missense_Mutation	SNP	T	C	C			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242141661T>C	uc002wax.2	+	c.827T>C	c.(826-828)CTT>CCT	p.L276P		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	276	Extracellular (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3														0.28125	51.128491	53.877407	18	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242141661	242141661	710	2	T	C	C	C	728	56	ANO7	4	4
DNMT3A	1788	broad.mit.edu	37	2	25459873	25459873	+	Missense_Mutation	SNP	G	A	A	rs35824014		TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:25459873G>A	uc002rgc.2	-	c.2410C>T	c.(2410-2412)CCG>TCG	p.P804S	DNMT3A_uc002rgd.2_Missense_Mutation_p.P804S|DNMT3A_uc010eyi.2_Non-coding_Transcript|DNMT3A_uc002rgb.2_Missense_Mutation_p.P615S	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	804					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|protein binding|zinc ion binding	p.Q615*(1)		haematopoietic_and_lymphoid_tissue(107)|ovary(3)	110	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.285714	15.841109	16.706576	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25459873	25459873	4859	2	G	A	A	A	546	42	DNMT3A	2	2
REG1B	5968	broad.mit.edu	37	2	79314691	79314691	+	Missense_Mutation	SNP	G	C	C			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79314691G>C	uc002sny.2	-	c.48C>G	c.(46-48)TTC>TTG	p.F16L	REG1B_uc010ffv.1_Missense_Mutation_p.F16L|REG1B_uc010ffw.2_Missense_Mutation_p.F16L	NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	16					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)	1														0.261905	33.105897	35.259932	11	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79314691	79314691	13680	2	G	C	C	C	529	41	REG1B	3	3
KY	339855	broad.mit.edu	37	3	134322838	134322838	+	Silent	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134322838C>T	uc010hty.2	-	c.1569G>A	c.(1567-1569)CTG>CTA	p.L523L	KY_uc011blw.1_3'UTR|KY_uc011blx.1_Silent_p.L502L	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	523						cytoskeleton|Z disc	peptidase activity			ovary(2)	2														0.233333	32.816043	36.724095	14	46	KEEP	---	---	---	---	capture		Silent	SNP	134322838	134322838	8909	3	C	T	T	T	366	29	KY	2	2
XYLB	9942	broad.mit.edu	37	3	38454427	38454427	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38454427G>T	uc003cic.2	+	c.1534G>T	c.(1534-1536)GTC>TTC	p.V512F	XYLB_uc011ayp.1_Missense_Mutation_p.V375F	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	512					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)										0.280899	62.111085	65.971539	25	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38454427	38454427	18045	3	G	T	T	T	572	44	XYLB	2	2
TMF1	7110	broad.mit.edu	37	3	69101202	69101202	+	Silent	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:69101202G>A	uc011bfx.1	-	c.36C>T	c.(34-36)TTC>TTT	p.F12F	TMF1_uc003dnn.2_Silent_p.F12F	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	12					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|RNA polymerase II transcription factor activity|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)										0.08871	3.731913	24.925866	11	113	KEEP	---	---	---	---	capture		Silent	SNP	69101202	69101202	16768	3	G	A	A	A	477	37	TMF1	1	1
C4orf45	152940	broad.mit.edu	37	4	159894386	159894386	+	Missense_Mutation	SNP	C	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159894386C>G	uc003iqf.1	-	c.142G>C	c.(142-144)GAA>CAA	p.E48Q	C4orf45_uc010iqt.1_Intron	NM_152543	NP_689756	Q96LM5	CD045_HUMAN	hypothetical protein LOC152940	48											0														0.333333	18.843898	19.28676	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159894386	159894386	2368	4	C	G	G	G	416	32	C4orf45	3	3
TBC1D1	23216	broad.mit.edu	37	4	38051323	38051323	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38051323G>A	uc003gtb.2	+	c.1714G>A	c.(1714-1716)GAC>AAC	p.D572N	TBC1D1_uc011byd.1_Missense_Mutation_p.D572N|TBC1D1_uc010ifd.2_Missense_Mutation_p.D319N|TBC1D1_uc011byf.1_Missense_Mutation_p.D443N	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	572						nucleus	Rab GTPase activator activity			ovary(1)	1														0.24031	71.75338	79.699215	31	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38051323	38051323	16119	4	G	A	A	A	585	45	TBC1D1	2	2
SRD5A3	79644	broad.mit.edu	37	4	56236046	56236046	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:56236046G>A	uc003hau.2	+	c.745G>A	c.(745-747)GAA>AAA	p.E249K		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	249	Lumenal (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|oxidation-reduction process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)											0.178571	30.770569	38.942152	15	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56236046	56236046	15654	4	G	A	A	A	585	45	SRD5A3	2	2
NPFFR2	10886	broad.mit.edu	37	4	73013156	73013156	+	Missense_Mutation	SNP	C	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73013156C>T	uc003hgg.2	+	c.1196C>T	c.(1195-1197)TCA>TTA	p.S399L	NPFFR2_uc010iig.1_Missense_Mutation_p.S181L|NPFFR2_uc003hgi.2_Missense_Mutation_p.S300L|NPFFR2_uc003hgh.2_Missense_Mutation_p.S297L|NPFFR2_uc003hgj.2_Non-coding_Transcript	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	399	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)											0.296296	43.178248	45.182654	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73013156	73013156	10982	4	C	T	T	T	377	29	NPFFR2	2	2
SDAD1	55153	broad.mit.edu	37	4	76898821	76898821	+	Missense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76898821C>A	uc003hje.3	-	c.383G>T	c.(382-384)TGC>TTC	p.C128F	SDAD1_uc003hjf.3_Missense_Mutation_p.C31F|SDAD1_uc011cbr.1_Intron	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	128					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)											0.211538	26.794406	30.79637	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76898821	76898821	14435	4	C	A	A	A	325	25	SDAD1	2	2
TRIM36	55521	broad.mit.edu	37	5	114466398	114466398	+	Missense_Mutation	SNP	A	C	C			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:114466398A>C	uc003kqs.2	-	c.1723T>G	c.(1723-1725)TTC>GTC	p.F575V	TRIM36_uc011cwc.1_Missense_Mutation_p.F563V|TRIM36_uc003kqt.2_Missense_Mutation_p.F420V	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	575	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			ovary(4)|lung(2)|breast(2)	8		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)						304				0.252336	67.572673	73.534559	27	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114466398	114466398	17054	5	A	C	C	C	39	3	TRIM36	4	4
TXNDC15	79770	broad.mit.edu	37	5	134235280	134235280	+	Missense_Mutation	SNP	T	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134235280T>G	uc003lac.1	+	c.988T>G	c.(988-990)TTA>GTA	p.L330V	TXNDC15_uc010jdy.1_Non-coding_Transcript|TXNDC15_uc011cxv.1_Non-coding_Transcript	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	disulfide isomerase precursor	330	Helical; (Potential).				cell redox homeostasis	integral to membrane				ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.419643	147.105298	147.736638	47	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134235280	134235280	17350	5	T	G	G	G	725	56	TXNDC15	4	4
PCDHGB2	56103	broad.mit.edu	37	5	140741992	140741992	+	Nonsense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140741992G>T	uc003ljs.1	+	c.2290G>T	c.(2290-2292)GAG>TAG	p.E764*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Nonsense_Mutation_p.E764*|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	764	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.413265	229.51781	230.810308	81	115	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140741992	140741992	11983	5	G	T	T	T	429	33	PCDHGB2	5	2
MRPL22	29093	broad.mit.edu	37	5	154320812	154320812	+	Missense_Mutation	SNP	A	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154320812A>G	uc003lvy.3	+	c.64A>G	c.(64-66)AAG>GAG	p.K22E	MRPL22_uc003lvz.3_5'UTR	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22 isoform a	22					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.123288	16.660617	26.762321	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154320812	154320812	10181	5	A	G	G	G	117	9	MRPL22	4	4
FAM71B	153745	broad.mit.edu	37	5	156589711	156589711	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156589711G>T	uc003lwn.2	-	c.1565C>A	c.(1564-1566)TCT>TAT	p.S522Y		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	522						nucleus				ovary(3)|pancreas(1)	4	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.458333	159.393359	159.576581	55	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156589711	156589711	5831	5	G	T	T	T	429	33	FAM71B	2	2
CDHR2	54825	broad.mit.edu	37	5	176013823	176013823	+	Missense_Mutation	SNP	C	T	T	rs116138699	by1000genomes	TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176013823C>T	uc003mem.1	+	c.2836C>T	c.(2836-2838)CGG>TGG	p.R946W	CDHR2_uc003men.1_Missense_Mutation_p.R946W	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	946	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2														0.172414	11.056702	13.996731	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176013823	176013823	3248	5	C	T	T	T	295	23	CDHR2	1	1
ISL1	3670	broad.mit.edu	37	5	50683505	50683505	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:50683505G>A	uc003jor.2	+	c.400G>A	c.(400-402)GAT>AAT	p.D134N		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	134					generation of precursor metabolites and energy|multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)												0.195402	36.825544	44.351013	17	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50683505	50683505	8160	5	G	A	A	A	481	37	ISL1	1	1
DYNLT1	6993	broad.mit.edu	37	6	159065728	159065728	+	Missense_Mutation	SNP	G	C	C			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159065728G>C	uc003qrn.1	-	c.13C>G	c.(13-15)CAG>GAG	p.Q5E		NM_006519	NP_006510	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	5					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)										0.277778	13.366767	14.166874	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159065728	159065728	5038	6	G	C	C	C	611	47	DYNLT1	3	3
FKBPL	63943	broad.mit.edu	37	6	32097522	32097522	+	Missense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32097522C>A	uc003nzr.2	-	c.36G>T	c.(34-36)AAG>AAT	p.K12N	ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	12					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0														0.727273	73.709373	75.245289	24	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32097522	32097522	6154	6	C	A	A	A	311	24	FKBPL	2	2
DLD	1738	broad.mit.edu	37	7	107558381	107558381	+	Missense_Mutation	SNP	A	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107558381A>G	uc003vet.2	+	c.1249A>G	c.(1249-1251)AAA>GAA	p.K417E	DLD_uc011kmg.1_Missense_Mutation_p.K369E|DLD_uc011kmh.1_Missense_Mutation_p.K394E|DLD_uc011kmi.1_Missense_Mutation_p.K318E	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	417					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)									0.419355	80.543112	80.893627	26	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107558381	107558381	4731	7	A	G	G	G	65	5	DLD	4	4
SCIN	85477	broad.mit.edu	37	7	12668762	12668762	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:12668762G>A	uc003ssn.3	+	c.1234G>A	c.(1234-1236)GAC>AAC	p.D412N	SCIN_uc010ktt.2_Non-coding_Transcript|SCIN_uc003sso.3_Missense_Mutation_p.D165N	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	412	Ca(2+)-dependent actin binding.|Gelsolin-like 4.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)										0.236364	29.841699	33.341367	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12668762	12668762	14387	7	G	A	A	A	585	45	SCIN	2	2
GLI3	2737	broad.mit.edu	37	7	42012056	42012056	+	Missense_Mutation	SNP	C	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42012056C>G	uc011kbh.1	-	c.1983G>C	c.(1981-1983)CAG>CAC	p.Q661H	GLI3_uc011kbg.1_Missense_Mutation_p.Q602H	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	661					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8										806				0.247525	70.953564	76.793249	25	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42012056	42012056	6707	7	C	G	G	G	259	20	GLI3	3	3
RBAK	57786	broad.mit.edu	37	7	5105125	5105125	+	Nonsense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5105125G>T	uc010kss.1	+	c.2038G>T	c.(2038-2040)GAA>TAA	p.E680*	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Nonsense_Mutation_p.E680*	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	680	Interaction with AR.|C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription repressor activity|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)										0.311688	61.566587	64.001218	24	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5105125	5105125	13561	7	G	T	T	T	585	45	RBAK	5	2
ZNF12	7559	broad.mit.edu	37	7	6732203	6732203	+	Missense_Mutation	SNP	C	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6732203C>G	uc003sqt.1	-	c.370G>C	c.(370-372)GAA>CAA	p.E124Q	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Intron	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)										0.304598	167.726212	173.643838	53	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6732203	6732203	18309	7	C	G	G	G	416	32	ZNF12	3	3
LRP12	29967	broad.mit.edu	37	8	105509951	105509951	+	Missense_Mutation	SNP	C	G	G			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105509951C>G	uc003yma.2	-	c.829G>C	c.(829-831)GAC>CAC	p.D277H	LRP12_uc003ymb.2_Missense_Mutation_p.D258H|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	277	Extracellular (Potential).|CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.150943	18.263973	24.450528	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105509951	105509951	9327	8	C	G	G	G	416	32	LRP12	3	3
LZTS1	11178	broad.mit.edu	37	8	20110503	20110503	+	Silent	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:20110503G>A	uc003wzr.2	-	c.939C>T	c.(937-939)GGC>GGT	p.G313G	LZTS1_uc010ltg.1_Silent_p.G313G	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	313	Potential.				cell cycle|regulation of transcription, DNA-dependent|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)										0.306667	58.792394	61.295169	23	52	KEEP	---	---	---	---	capture		Silent	SNP	20110503	20110503	9515	8	G	A	A	A	483	38	LZTS1	1	1
ADAMTS13	11093	broad.mit.edu	37	9	136290667	136290667	+	Missense_Mutation	SNP	G	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136290667G>A	uc004cdv.3	+	c.349G>A	c.(349-351)GAC>AAC	p.D117N	ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D117N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D117N|ADAMTS13_uc004cdw.3_Missense_Mutation_p.D117N|ADAMTS13_uc004cdx.3_Missense_Mutation_p.D117N|ADAMTS13_uc004cdq.1_Missense_Mutation_p.D117N|ADAMTS13_uc004cds.1_5'UTR|ADAMTS13_uc004cdr.1_Non-coding_Transcript	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	117	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)										0.157895	11.023923	15.266065	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136290667	136290667	259	9	G	A	A	A	533	41	ADAMTS13	2	2
ADAMTS13	11093	broad.mit.edu	37	9	136291428	136291428	+	Missense_Mutation	SNP	G	C	C			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136291428G>C	uc004cdv.3	+	c.649G>C	c.(649-651)GAC>CAC	p.D217H	ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D217H|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D217H|ADAMTS13_uc004cdw.3_Missense_Mutation_p.D217H|ADAMTS13_uc004cdx.3_Missense_Mutation_p.D217H|ADAMTS13_uc004cdy.1_5'Flank|ADAMTS13_uc004cdq.1_Missense_Mutation_p.D217H|ADAMTS13_uc004cds.1_Silent_p.S46S|ADAMTS13_uc004cdr.1_Non-coding_Transcript	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	217	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)										0.216216	44.963856	50.457922	16	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136291428	136291428	259	9	G	C	C	C	481	37	ADAMTS13	3	3
CNTLN	54875	broad.mit.edu	37	9	17466001	17466001	+	Missense_Mutation	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:17466001G>T	uc003zmz.2	+	c.3551G>T	c.(3550-3552)TGT>TTT	p.C1184F	CNTLN_uc003zmy.2_Missense_Mutation_p.C1185F|CNTLN_uc010mio.2_Missense_Mutation_p.C864F	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1185	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)										0.25	10.891893	11.801082	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17466001	17466001	3777	9	G	T	T	T	624	48	CNTLN	2	2
PTCH1	5727	broad.mit.edu	37	9	98218671	98218671	+	Missense_Mutation	SNP	C	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:98218671C>A	uc004avk.3	-	c.3193G>T	c.(3193-3195)GTC>TTC	p.V1065F	PTCH1_uc010mro.2_Missense_Mutation_p.V914F|PTCH1_uc010mrp.2_Missense_Mutation_p.V914F|PTCH1_uc010mrq.2_Missense_Mutation_p.V914F|PTCH1_uc004avl.3_Missense_Mutation_p.V914F|PTCH1_uc010mrr.2_Missense_Mutation_p.V999F|PTCH1_uc004avm.3_Missense_Mutation_p.V1064F	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1065	Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1057_L1102del(1)		skin(229)|central_nervous_system(43)|bone(33)|upper_aerodigestive_tract(10)|lung(5)|large_intestine(4)|oesophagus(3)|ovary(3)|breast(2)|vulva(1)	333		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)								509				0.193548	12.532007	15.249305	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98218671	98218671	13184	9	C	A	A	A	234	18	PTCH1	2	2
NSDHL	50814	broad.mit.edu	37	X	152027454	152027454	+	Silent	SNP	G	T	T			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152027454G>T	uc004fgt.1	+	c.408G>T	c.(406-408)GGG>GGT	p.G136G	NSDHL_uc004fgs.1_Silent_p.G136G	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	136					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)									0.454545	60.094252	60.173391	20	24	KEEP	---	---	---	---	capture		Silent	SNP	152027454	152027454	11075	23	G	T	T	T	548	43	NSDHL	2	2
PLEKHG3	26030	broad.mit.edu	37	14	65204695	65204696	+	In_Frame_Ins	INS	-	GGA	GGA			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65204695_65204696insGGA	uc001xhp.2	+	c.1520_1521insGGA	c.(1519-1521)GTG>GTGGAG	p.517_518insE	PLEKHG3_uc001xhn.1_Intron|PLEKHG3_uc001xho.1_Intron|PLEKHG3_uc010aqh.1_Intron|PLEKHG3_uc001xhq.1_5'Flank	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	536_537					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)										0.33			2	4		---	---	---	---	capture_indel		In_Frame_Ins	INS	65204695	65204696	12496	14	-	GGA	GGA	GGA	755	59	PLEKHG3	5	5
RBM10	8241	broad.mit.edu	37	X	47034469	47034470	+	Frame_Shift_Ins	INS	-	A	A			TCGA-35-3615-01	TCGA-35-3615-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47034469_47034470insA	uc004dhi.2	+	c.749_750insA	c.(748-750)ACAfs	p.T250fs	RBM10_uc004dhe.1_Intron|RBM10_uc004dhf.2_Frame_Shift_Ins_p.T185fs|RBM10_uc004dhg.2_Frame_Shift_Ins_p.T108fs|RBM10_uc004dhh.2_Frame_Shift_Ins_p.T185fs|RBM10_uc010nhq.2_Frame_Shift_Ins_p.T108fs	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	185	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3						Melanoma(171;120 2705 19495 39241)								0.62			26	16		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	47034469	47034470	13572	23	-	A	A	A	221	17	RBM10	5	5
