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
SFXN2	118980	broad.mit.edu	37	10	104489099	104489099	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104489099C>G	uc001kwb.2	+	c.455C>G	c.(454-456)ACA>AGA	p.T152R	SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	152	Helical; (Potential).			QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 2).	iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)								OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.306452	59.899499	61.971879	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104489099	104489099	14686	10	C	G	G	G	221	17	SFXN2	3	3
SORCS3	22986	broad.mit.edu	37	10	107012615	107012615	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:107012615C>A	uc001kyi.1	+	c.3188C>A	c.(3187-3189)CCC>CAC	p.P1063H	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1063	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.22973	77.918147	87.799962	34	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107012615	107012615	15432	10	C	A	A	A	286	22	SORCS3	2	2
PRLHR	2834	broad.mit.edu	37	10	120353661	120353661	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:120353661C>T	uc001ldp.1	-	c.1096G>A	c.(1096-1098)GTC>ATC	p.V366I		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	366	Required for interaction with GRIP1, GRIP2 and PICK1.|Cytoplasmic (Potential).			V->A: No effect on binding to GRIP1.|Missing: Abolishes binding to GRIP1 and PICK1.	female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)										0.231707	39.576141	44.99034	19	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120353661	120353661	12973	10	C	T	T	T	247	19	PRLHR	1	1
MKI67	4288	broad.mit.edu	37	10	129905763	129905763	+	Silent	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129905763A>G	uc001lke.2	-	c.4341T>C	c.(4339-4341)AGT>AGC	p.S1447S	MKI67_uc001lkf.2_Silent_p.S1087S|MKI67_uc009yav.1_Silent_p.S1022S|MKI67_uc009yaw.1_Silent_p.S597S	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1447	16 X 122 AA approximate repeats.|4.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.267606	267.053926	284.380736	95	260	KEEP	---	---	---	---	capture		Silent	SNP	129905763	129905763	9988	10	A	G	G	G	76	6	MKI67	4	4
VENTX	27287	broad.mit.edu	37	10	135051638	135051638	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135051638G>A	uc010quy.1	+	c.220G>A	c.(220-222)GCG>ACG	p.A74T		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	74					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)										0.227273	10.56138	12.065271	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135051638	135051638	17720	10	G	A	A	A	598	46	VENTX	2	2
ARMC3	219681	broad.mit.edu	37	10	23287106	23287106	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23287106C>T	uc001irm.3	+	c.1205C>T	c.(1204-1206)CCA>CTA	p.P402L	ARMC3_uc010qcv.1_Missense_Mutation_p.P402L|ARMC3_uc010qcw.1_Missense_Mutation_p.P139L	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	402	ARM 10.						binding				0														0.175	13.697758	17.685744	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23287106	23287106	970	10	C	T	T	T	273	21	ARMC3	2	2
LYZL2	119180	broad.mit.edu	37	10	30915049	30915049	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30915049G>T	uc001ivk.2	-	c.421C>A	c.(421-423)CAC>AAC	p.H141N		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	95					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)												0.263889	94.674623	101.940808	38	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30915049	30915049	9509	10	G	T	T	T	611	47	LYZL2	2	2
ANKRD30A	91074	broad.mit.edu	37	10	37454083	37454083	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37454083G>T	uc001iza.1	+	c.1896G>T	c.(1894-1896)GAG>GAT	p.E632D		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	688					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.222222	29.681923	33.5072	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37454083	37454083	663	10	G	T	T	T	451	35	ANKRD30A	2	2
HNRNPF	3185	broad.mit.edu	37	10	43882166	43882166	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43882166G>A	uc009xmh.1	-	c.1167C>T	c.(1165-1167)TAC>TAT	p.Y389Y	HNRNPF_uc001jar.2_Silent_p.Y389Y|HNRNPF_uc001jas.2_Silent_p.Y389Y|HNRNPF_uc001jat.2_Silent_p.Y389Y|HNRNPF_uc001jav.2_Silent_p.Y389Y|HNRNPF_uc001jau.2_Silent_p.Y389Y	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	389					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0														0.409722	157.878228	158.90671	59	85	KEEP	---	---	---	---	capture		Silent	SNP	43882166	43882166	7557	10	G	A	A	A	620	48	HNRNPF	2	2
SYT15	83849	broad.mit.edu	37	10	46961994	46961994	+	Silent	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:46961994C>A	uc001jea.2	-	c.1242G>T	c.(1240-1242)GCG>GCT	p.A414A	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.2_Silent_p.A292A|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	414	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						Ovarian(57;1152 1428 19651 37745)								0.15625	47.192157	65.261266	25	135	KEEP	---	---	---	---	capture		Silent	SNP	46961994	46961994	15992	10	C	A	A	A	340	27	SYT15	1	1
MUC6	4588	broad.mit.edu	37	11	1019490	1019490	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1019490G>T	uc001lsw.2	-	c.3815C>A	c.(3814-3816)CCT>CAT	p.P1272H		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1272	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)										0.159236	45.473757	62.843739	25	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1019490	1019490	10374	11	G	T	T	T	455	35	MUC6	2	2
SC5DL	6309	broad.mit.edu	37	11	121174140	121174140	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121174140C>T	uc001pxu.2	+	c.56C>T	c.(55-57)CCA>CTA	p.P19L	SC5DL_uc001pxs.1_Missense_Mutation_p.P19L|SC5DL_uc001pxt.2_Missense_Mutation_p.P19L|SC5DL_uc001pxv.2_Missense_Mutation_p.P19L	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	19					fatty acid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)										0.146853	37.482913	54.616746	21	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121174140	121174140	14347	11	C	T	T	T	273	21	SC5DL	2	2
OR8B8	26493	broad.mit.edu	37	11	124310257	124310257	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124310257C>A	uc010sal.1	-	c.725G>T	c.(724-726)AGC>ATC	p.S242I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.181818	60.743986	76.443751	30	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124310257	124310257	11641	11	C	A	A	A	364	28	OR8B8	2	2
KCNJ5	3762	broad.mit.edu	37	11	128786413	128786413	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128786413C>A	uc001qet.2	+	c.1047C>A	c.(1045-1047)AAC>AAA	p.N349K	KCNJ5_uc009zck.2_Missense_Mutation_p.N349K|KCNJ5_uc001qew.2_Missense_Mutation_p.N349K	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	349	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding				0	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)								0.381356	276.894473	279.807998	90	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128786413	128786413	8359	11	C	A	A	A	220	17	KCNJ5	2	2
ART5	116969	broad.mit.edu	37	11	3661436	3661436	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:3661436A>G	uc001lyb.1	-	c.223T>C	c.(223-225)TGG>CGG	p.W75R	ART5_uc001lyc.1_Missense_Mutation_p.W75R|ART5_uc001lyd.2_Missense_Mutation_p.W75R|ART5_uc009yea.2_Missense_Mutation_p.W75R	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5 precursor	75						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.223404	52.407036	59.042253	21	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3661436	3661436	1018	11	A	G	G	G	91	7	ART5	4	4
OR51G1	79324	broad.mit.edu	37	11	4944840	4944840	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4944840C>A	uc010qyr.1	-	c.730G>T	c.(730-732)GTC>TTC	p.V244F		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	244	Helical; Name=6; (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;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.415842	129.929195	130.554556	42	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4944840	4944840	11508	11	C	A	A	A	221	17	OR51G1	2	2
OR52A5	390054	broad.mit.edu	37	11	5153632	5153632	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5153632G>A	uc010qyx.1	-	c.241C>T	c.(241-243)CCC>TCC	p.P81S		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	81	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)										0.385321	123.458643	124.702584	42	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5153632	5153632	11520	11	G	A	A	A	533	41	OR52A5	2	2
OR51B2	79345	broad.mit.edu	37	11	5345219	5345219	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5345219G>C	uc001mao.1	-	c.309C>G	c.(307-309)CAC>CAG	p.H103Q	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.377358	141.077535	142.475723	40	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5345219	5345219	11499	11	G	C	C	C	464	36	OR51B2	3	3
C11orf35	256329	broad.mit.edu	37	11	558709	558709	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:558709T>G	uc001lpx.2	-	c.216A>C	c.(214-216)GAA>GAC	p.E72D	RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank|RASSF7_uc001lqc.2_5'Flank|RASSF7_uc001lqd.2_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	72										pancreas(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.210526	9.686004	11.164036	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	558709	558709	1677	11	T	G	G	G	777	60	C11orf35	4	4
OR8J3	81168	broad.mit.edu	37	11	55904317	55904317	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55904317C>A	uc010riz.1	-	c.878G>T	c.(877-879)AGG>ATG	p.R293M		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00693)													0.318966	102.869396	106.229436	37	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55904317	55904317	11653	11	C	A	A	A	312	24	OR8J3	2	2
OR5B3	441608	broad.mit.edu	37	11	58170161	58170161	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58170161G>T	uc010rkf.1	-	c.722C>A	c.(721-723)TCT>TAT	p.S241Y		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.211382	55.073455	64.559044	26	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58170161	58170161	11562	11	G	T	T	T	429	33	OR5B3	2	2
GLYATL2	219970	broad.mit.edu	37	11	58601981	58601981	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58601981T>C	uc001nnd.3	-	c.806A>G	c.(805-807)CAG>CGG	p.Q269R	GLYATL2_uc009ymq.2_Missense_Mutation_p.Q269R	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	269						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)					196				0.137931	29.617355	44.327507	16	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58601981	58601981	6749	11	T	C	C	C	715	55	GLYATL2	4	4
SF3B2	10992	broad.mit.edu	37	11	65827268	65827268	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65827268G>T	uc001ogy.1	+	c.1417G>T	c.(1417-1419)GAT>TAT	p.D473Y		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	473					interspecies interaction between organisms|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3														0.307692	60.070113	62.643344	24	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65827268	65827268	14640	11	G	T	T	T	481	37	SF3B2	1	1
INPPL1	3636	broad.mit.edu	37	11	71949145	71949145	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71949145G>T	uc001osf.2	+	c.3612G>T	c.(3610-3612)TGG>TGT	p.W1204C	INPPL1_uc001osg.2_Missense_Mutation_p.W962C	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1204	SAM.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)	3												OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.5	27.593822	27.593822	11	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71949145	71949145	8062	11	G	T	T	T	546	42	INPPL1	2	2
OLFML1	283298	broad.mit.edu	37	11	7531000	7531000	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7531000C>A	uc001mfi.2	+	c.790C>A	c.(790-792)CAC>AAC	p.H264N	OLFML1_uc010raz.1_Missense_Mutation_p.H128N|OLFML1_uc010rba.1_Missense_Mutation_p.H264N	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1 precursor	264	Olfactomedin-like.					extracellular region				ovary(2)	2				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)										0.273973	50.865185	54.227237	20	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7531000	7531000	11261	11	C	A	A	A	325	25	OLFML1	2	2
FAT3	120114	broad.mit.edu	37	11	92531675	92531675	+	Silent	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92531675A>T	uc001pdj.3	+	c.5496A>T	c.(5494-5496)GCA>GCT	p.A1832A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1832	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.236842	21.854918	24.261077	9	29	KEEP	---	---	---	---	capture		Silent	SNP	92531675	92531675	5927	11	A	T	T	T	54	5	FAT3	3	3
FAM71C	196472	broad.mit.edu	37	12	100042185	100042185	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100042185C>A	uc001tgn.2	+	c.233C>A	c.(232-234)CCC>CAC	p.P78H	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	78											0				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)										0.445783	105.848991	106.063367	37	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100042185	100042185	5832	12	C	A	A	A	286	22	FAM71C	2	2
KIAA1033	23325	broad.mit.edu	37	12	105538144	105538144	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:105538144G>A	uc010swr.1	+	c.2093G>A	c.(2092-2094)CGA>CAA	p.R698Q	KIAA1033_uc001tld.2_Missense_Mutation_p.R697Q|KIAA1033_uc010sws.1_Missense_Mutation_p.R509Q	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	697					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2														0.372973	200.423778	203.047135	69	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105538144	105538144	8513	12	G	A	A	A	481	37	KIAA1033	1	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398284C>G	uc001rgp.1	-	c.35G>C	c.(34-36)GGT>GCT	p.G12A	KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(6894)|p.G12V(4601)|p.G12A(1119)|p.G12?(50)|p.G12F(33)|p.G12N(6)|p.G12L(5)|p.G12C(4)|p.G12I(3)|p.G12W(3)|p.G12E(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12S(1)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.428571	41.997207	42.121505	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398284	25398284	8753	12	C	G	G	G	234	18	KRAS	3	3
EFCAB4B	84766	broad.mit.edu	37	12	3805981	3805981	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:3805981C>G	uc010sen.1	-	c.185G>C	c.(184-186)TGT>TCT	p.C62S	EFCAB4B_uc010seo.1_Missense_Mutation_p.C62S|EFCAB4B_uc001qmj.2_Missense_Mutation_p.C62S	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform a	62	EF-hand 1.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)											0.396694	169.475472	170.605394	48	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3805981	3805981	5124	12	C	G	G	G	221	17	EFCAB4B	3	3
NEUROD4	58158	broad.mit.edu	37	12	55421178	55421178	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55421178C>G	uc001sgp.3	+	c.955C>G	c.(955-957)CAT>GAT	p.H319D		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			ovary(3)	3														0.433588	1035.210305	1037.728998	284	371	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55421178	55421178	10750	12	C	G	G	G	377	29	NEUROD4	3	3
OR6C68	403284	broad.mit.edu	37	12	55886519	55886519	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55886519C>A	uc010spo.1	+	c.373C>A	c.(373-375)CGC>AGC	p.R125S		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.396552	142.128726	143.21398	46	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55886519	55886519	11606	12	C	A	A	A	403	31	OR6C68	1	1
TMEM5	10329	broad.mit.edu	37	12	64202608	64202608	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64202608G>A	uc001srq.1	+	c.1068G>A	c.(1066-1068)GTG>GTA	p.V356V	TMEM5_uc001srr.1_Silent_p.V253V|TMEM5_uc001srs.1_Silent_p.V96V	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	356	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)										0.423077	130.278979	130.816729	44	60	KEEP	---	---	---	---	capture		Silent	SNP	64202608	64202608	16713	12	G	A	A	A	574	45	TMEM5	2	2
NALCN	259232	broad.mit.edu	37	13	101777019	101777019	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101777019A>T	uc001vox.1	-	c.2132T>A	c.(2131-2133)GTT>GAT	p.V711D		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	711	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.284444	170.399802	179.790955	64	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101777019	101777019	10544	13	A	T	T	T	26	2	NALCN	3	3
CYSLTR2	57105	broad.mit.edu	37	13	49281044	49281044	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:49281044T>A	uc010acx.1	+	c.91T>A	c.(91-93)TGC>AGC	p.C31S	CYSLTR2_uc010acy.1_Missense_Mutation_p.C31S|CYSLTR2_uc010acz.1_Missense_Mutation_p.C31S|CYSLTR2_uc010ada.1_Missense_Mutation_p.C31S|CYSLTR2_uc010adb.1_Missense_Mutation_p.C31S|CYSLTR2_uc010adc.1_Missense_Mutation_p.C31S|CYSLTR2_uc010add.1_Missense_Mutation_p.C31S|CYSLTR2_uc010acw.1_Missense_Mutation_p.C31S|CYSLTR2_uc001vck.2_Missense_Mutation_p.C31S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	31	Extracellular (Potential).				immune response	integral to membrane|plasma membrane				lung(2)	2		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)					46				0.321244	184.684249	190.160728	62	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49281044	49281044	4367	13	T	A	A	A	715	55	CYSLTR2	3	3
PCDH17	27253	broad.mit.edu	37	13	58298880	58298880	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58298880G>T	uc001vhq.1	+	c.2932G>T	c.(2932-2934)GTT>TTT	p.V978F	PCDH17_uc010aec.1_Missense_Mutation_p.V977F|PCDH17_uc001vhr.1_Missense_Mutation_p.V67F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	978	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.244444	85.40343	93.439462	33	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58298880	58298880	11932	13	G	T	T	T	468	36	PCDH17	2	2
CDH24	64403	broad.mit.edu	37	14	23523778	23523778	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23523778C>T	uc001wil.2	-	c.721G>A	c.(721-723)GGC>AGC	p.G241S	CDH24_uc010akf.2_Missense_Mutation_p.G241S|CDH24_uc001win.3_Missense_Mutation_p.G241S	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	241	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)								OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.258621	40.495221	43.558832	15	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23523778	23523778	3238	14	C	T	T	T	312	24	CDH24	2	2
LRFN5	145581	broad.mit.edu	37	14	42356688	42356688	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42356688C>A	uc001wvm.2	+	c.860C>A	c.(859-861)CCT>CAT	p.P287H	LRFN5_uc010ana.2_Missense_Mutation_p.P287H	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	287	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.282723	140.961327	149.066345	54	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42356688	42356688	9314	14	C	A	A	A	312	24	LRFN5	2	2
NID2	22795	broad.mit.edu	37	14	52505531	52505531	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52505531C>A	uc001wzo.2	-	c.2191G>T	c.(2191-2193)GCC>TCC	p.A731S	NID2_uc010tqs.1_Missense_Mutation_p.A731S|NID2_uc010tqt.1_Missense_Mutation_p.A731S|NID2_uc001wzp.2_Missense_Mutation_p.A731S	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	731	Nidogen G2 beta-barrel.				bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.205128	53.847672	63.274736	24	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52505531	52505531	10816	14	C	A	A	A	325	25	NID2	2	2
COX16	51241	broad.mit.edu	37	14	70793067	70793067	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70793067T>A	uc001xmb.2	-	c.304A>T	c.(304-306)AAG>TAG	p.K102*		NM_016468	NP_057552	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog	102						integral to membrane|mitochondrial membrane					0														0.25	6.71859	7.400978	3	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70793067	70793067	3903	14	T	A	A	A	793	61	COX16	5	3
PCNX	22990	broad.mit.edu	37	14	71443750	71443750	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71443750G>T	uc001xmo.2	+	c.696G>T	c.(694-696)TTG>TTT	p.L232F	PCNX_uc001xmn.3_Missense_Mutation_p.L232F|PCNX_uc010are.1_Missense_Mutation_p.L232F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	232						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)										0.328125	58.252197	59.929134	21	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71443750	71443750	12011	14	G	T	T	T	594	46	PCNX	2	2
PCNX	22990	broad.mit.edu	37	14	71502801	71502801	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71502801A>G	uc001xmo.2	+	c.3794A>G	c.(3793-3795)GAC>GGC	p.D1265G	PCNX_uc010are.1_Missense_Mutation_p.D1154G|PCNX_uc010arf.1_Missense_Mutation_p.D125G	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1265						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)										0.277778	263.888485	276.675695	80	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71502801	71502801	12011	14	A	G	G	G	130	10	PCNX	4	4
SIPA1L1	26037	broad.mit.edu	37	14	72138121	72138121	+	Silent	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72138121A>G	uc001xms.2	+	c.2541A>G	c.(2539-2541)CCA>CCG	p.P847P	SIPA1L1_uc001xmt.2_Silent_p.P847P|SIPA1L1_uc001xmu.2_Silent_p.P847P|SIPA1L1_uc001xmv.2_Silent_p.P847P|SIPA1L1_uc010ttm.1_Silent_p.P322P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	847					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.4	87.133729	87.789864	30	45	KEEP	---	---	---	---	capture		Silent	SNP	72138121	72138121	14824	14	A	G	G	G	93	8	SIPA1L1	4	4
C14orf145	145508	broad.mit.edu	37	14	80971348	80971348	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:80971348G>A	uc001xux.2	-	c.3088C>T	c.(3088-3090)CTG>TTG	p.L1030L	C14orf145_uc010asz.1_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CN145_HUMAN	hypothetical protein LOC145508	1030										central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0586)						1				0.325	38.660471	39.747856	13	27	KEEP	---	---	---	---	capture		Silent	SNP	80971348	80971348	1797	14	G	A	A	A	425	33	C14orf145	2	2
C14orf145	145508	broad.mit.edu	37	14	81304608	81304608	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81304608C>A	uc001xux.2	-	c.864G>T	c.(862-864)TTG>TTT	p.L288F	C14orf145_uc010asz.1_5'Flank|C14orf145_uc001xuz.2_Missense_Mutation_p.L288F|C14orf145_uc001xuy.1_Missense_Mutation_p.L146F	NM_152446	NP_689659	Q6ZU80	CN145_HUMAN	hypothetical protein LOC145508	288	Potential.									central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0586)						1				0.194915	46.016777	56.316955	23	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81304608	81304608	1797	14	C	A	A	A	272	21	C14orf145	2	2
GABRB3	2562	broad.mit.edu	37	15	26793116	26793116	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:26793116G>T	uc001zbb.2	-	c.1414C>A	c.(1414-1416)CTG>ATG	p.L472M	GABRB3_uc010uae.1_Missense_Mutation_p.L331M|GABRB3_uc001zaz.2_Missense_Mutation_p.L416M|GABRB3_uc001zba.2_Missense_Mutation_p.L416M	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	416	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	4		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.226415	53.743643	61.03002	24	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26793116	26793116	6419	15	G	T	T	T	451	35	GABRB3	2	2
ATP8B4	79895	broad.mit.edu	37	15	50168506	50168506	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50168506G>T	uc001zxu.2	-	c.2996C>A	c.(2995-2997)GCC>GAC	p.A999D	ATP8B4_uc010ber.2_Missense_Mutation_p.A872D|ATP8B4_uc010ufd.1_Missense_Mutation_p.A809D|ATP8B4_uc010ufe.1_Non-coding_Transcript|ATP8B4_uc001zxt.2_Missense_Mutation_p.A2D	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	999	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|breast(2)|large_intestine(1)	5		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)										0.228261	49.587764	55.77862	21	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50168506	50168506	1216	15	G	T	T	T	546	42	ATP8B4	2	2
VPS13C	54832	broad.mit.edu	37	15	62232961	62232961	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:62232961T>A	uc002agz.2	-	c.5486A>T	c.(5485-5487)GAC>GTC	p.D1829V	VPS13C_uc002aha.2_Missense_Mutation_p.D1786V|VPS13C_uc002ahb.1_Missense_Mutation_p.D1829V|VPS13C_uc002ahc.1_Missense_Mutation_p.D1786V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1829					protein localization					ovary(2)	2														0.134328	11.442737	20.12158	9	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62232961	62232961	17758	15	T	A	A	A	754	58	VPS13C	3	3
IGDCC4	57722	broad.mit.edu	37	15	65702515	65702515	+	Splice_Site_SNP	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65702515C>A	uc002aou.1	-	c.563_splice	c.e3+1	p.R188_splice		NM_020962	NP_066013			immunoglobulin superfamily, DCC subclass, member							integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2														0.42029	86.135945	86.523958	29	40	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	65702515	65702515	7870	15	C	A	A	A	234	18	IGDCC4	5	2
THSD4	79875	broad.mit.edu	37	15	72063533	72063533	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:72063533G>T	uc002atb.1	+	c.2900G>T	c.(2899-2901)TGT>TTT	p.C967F	THSD4_uc002ate.2_Missense_Mutation_p.C607F|THSD4_uc002atg.1_Missense_Mutation_p.C170F	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	967	TSP type-1 6.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2														0.207071	99.850481	115.608823	41	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72063533	72063533	16406	15	G	T	T	T	624	48	THSD4	2	2
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79059040A>G	uc002bej.3	-	c.3213T>C	c.(3211-3213)AAT>AAC	p.N1071N	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0														0.059701	-3.252972	10.330208	4	63	KEEP	---	---	---	---	capture		Silent	SNP	79059040	79059040	272	15	A	G	G	G	50	4	ADAMTS7	4	4
IL16	3603	broad.mit.edu	37	15	81517840	81517840	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81517840G>C	uc010unp.1	+	c.226G>C	c.(226-228)GGC>CGC	p.G76R	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.G34R|IL16_uc002bge.3_Non-coding_Transcript|IL16_uc002bgh.3_Missense_Mutation_p.G34R|IL16_uc002bgg.2_Missense_Mutation_p.G34R	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	34					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4														0.264368	67.684549	72.051528	23	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81517840	81517840	7934	15	G	C	C	C	611	47	IL16	3	3
ST8SIA2	8128	broad.mit.edu	37	15	92988003	92988003	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:92988003G>T	uc002bra.2	+	c.686G>T	c.(685-687)CGG>CTG	p.R229L	ST8SIA2_uc002brb.2_Missense_Mutation_p.R208L	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	229	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)											0.166667	5.3144	7.210382	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92988003	92988003	15750	15	G	T	T	T	507	39	ST8SIA2	1	1
SNX29	92017	broad.mit.edu	37	16	12571716	12571716	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:12571716G>T	uc002dby.3	+	c.1023G>T	c.(1021-1023)AAG>AAT	p.K341N		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	341	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1														0.333333	27.5411	28.27857	10	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12571716	12571716	15398	16	G	T	T	T	451	35	SNX29	2	2
ABCC11	85320	broad.mit.edu	37	16	48249206	48249206	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48249206A>T	uc002eff.1	-	c.1001T>A	c.(1000-1002)GTC>GAC	p.V334D	ABCC11_uc002efg.1_Missense_Mutation_p.V334D|ABCC11_uc002efh.1_Missense_Mutation_p.V334D|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	334	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.266667	38.974096	41.924474	16	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48249206	48249206	52	16	A	T	T	T	130	10	ABCC11	3	3
NUP93	9688	broad.mit.edu	37	16	56875616	56875616	+	Splice_Site_SNP	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:56875616G>T	uc002eka.2	+	c.2221_splice	c.e21-1	p.I741_splice	NUP93_uc002ekb.2_Splice_Site_SNP_p.I618_splice|NUP93_uc010vhi.1_Splice_Site_SNP_p.I618_splice	NM_014669	NP_055484			nucleoporin 93kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						Colon(33;610 796 1305 1705 38917)								0.159184	65.245635	92.392527	39	206	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	56875616	56875616	11177	16	G	T	T	T	429	33	NUP93	5	2
FUK	197258	broad.mit.edu	37	16	70503108	70503108	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70503108G>A	uc010cft.2	+	c.933G>A	c.(931-933)GAG>GAA	p.E311E	FUK_uc002eyy.2_Silent_p.E279E|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	279						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)												0.299465	163.73876	170.451649	56	131	KEEP	---	---	---	---	capture		Silent	SNP	70503108	70503108	6347	16	G	A	A	A	451	35	FUK	2	2
CNTNAP4	85445	broad.mit.edu	37	16	76501258	76501258	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76501258A>T	uc002fex.1	+	c.1502A>T	c.(1501-1503)GAC>GTC	p.D501V	CNTNAP4_uc002feu.1_Missense_Mutation_p.D498V|CNTNAP4_uc002fev.1_Missense_Mutation_p.D362V|CNTNAP4_uc010chb.1_Missense_Mutation_p.D425V|CNTNAP4_uc002few.2_Missense_Mutation_p.D473V	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	498	Extracellular (Potential).|Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.340909	42.412894	43.396491	15	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76501258	76501258	3787	16	A	T	T	T	130	10	CNTNAP4	3	3
MYH2	4620	broad.mit.edu	37	17	10435205	10435205	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10435205C>A	uc010coi.2	-	c.2442G>T	c.(2440-2442)AGG>AGT	p.R814S	MYH2_uc002gmp.3_Missense_Mutation_p.R814S|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	814	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.177215	49.863128	65.338678	28	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10435205	10435205	10430	17	C	A	A	A	285	22	MYH2	2	2
MYH2	4620	broad.mit.edu	37	17	10440622	10440622	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10440622C>A	uc010coi.2	-	c.1825G>T	c.(1825-1827)GTT>TTT	p.V609F	MYH2_uc002gmp.3_Missense_Mutation_p.V609F|MYH2_uc010coj.2_Missense_Mutation_p.V609F	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	609	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.367089	243.141721	246.830513	87	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10440622	10440622	10430	17	C	A	A	A	234	18	MYH2	2	2
DNAH9	1770	broad.mit.edu	37	17	11865334	11865334	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11865334G>C	uc002gne.2	+	c.12994G>C	c.(12994-12996)GAG>CAG	p.E4332Q	DNAH9_uc010coo.2_Missense_Mutation_p.E3550Q|DNAH9_uc002gnf.2_Missense_Mutation_p.E644Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4332					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.298507	64.15844	66.599985	20	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11865334	11865334	4791	17	G	C	C	C	429	33	DNAH9	3	3
NCOR1	9611	broad.mit.edu	37	17	16068459	16068459	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16068459C>T	uc002gpo.2	-	c.452G>A	c.(451-453)GGC>GAC	p.G151D	NCOR1_uc002gpn.2_Missense_Mutation_p.G151D|NCOR1_uc002gpp.1_Missense_Mutation_p.G42D|NCOR1_uc002gpr.2_Missense_Mutation_p.G42D|NCOR1_uc002gps.1_Missense_Mutation_p.G151D|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.G151D|NCOR1_uc010cpa.1_Missense_Mutation_p.G151D|NCOR1_uc002gpu.2_Missense_Mutation_p.G151D	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	151	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of JNK cascade|regulation of fatty acid transport|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	spindle microtubule|transcriptional repressor complex	histone deacetylase binding|promoter binding|transcription corepressor activity			ovary(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)										0.040323	-37.129054	19.292184	10	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16068459	16068459	10634	17	C	T	T	T	338	26	NCOR1	2	2
ZNF624	57547	broad.mit.edu	37	17	16526384	16526384	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16526384G>A	uc010cpi.1	-	c.1816C>T	c.(1816-1818)CAC>TAC	p.H606Y		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	606	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		NSCLC(186;1023 2134 13330 38202 39800)								0.355392	413.137778	420.665022	145	263	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16526384	16526384	18643	17	G	A	A	A	585	45	ZNF624	2	2
KIAA0664	23277	broad.mit.edu	37	17	2597328	2597328	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:2597328G>A	uc002fuy.1	-	c.2980C>T	c.(2980-2982)CTG>TTG	p.L994L	KIAA0664_uc002fux.1_Silent_p.L927L|KIAA0664_uc010ckc.1_5'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	994	TPR 1.						binding			breast(2)	2														0.233333	35.217051	39.124147	14	46	KEEP	---	---	---	---	capture		Silent	SNP	2597328	2597328	8496	17	G	A	A	A	451	35	KIAA0664	2	2
P2RX5	5026	broad.mit.edu	37	17	3591921	3591921	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3591921T>A	uc002fwh.1	-	c.883A>T	c.(883-885)AGA>TGA	p.R295*	P2RX5_uc002fwd.2_Non-coding_Transcript|P2RX5_uc010vrx.1_Nonsense_Mutation_p.R236*|P2RX5_uc002fwi.2_Nonsense_Mutation_p.R296*|P2RX5_uc002fwj.2_Nonsense_Mutation_p.R271*|P2RX5_uc002fwk.2_Nonsense_Mutation_p.R295*|P2RX5_uc002fwl.2_Nonsense_Mutation_p.R272*	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	296	Extracellular (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0														0.099099	9.846232	27.678426	11	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3591921	3591921	11756	17	T	A	A	A	713	55	P2RX5	5	3
DHX8	1659	broad.mit.edu	37	17	41601039	41601039	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41601039C>T	uc002idu.1	+	c.3487C>T	c.(3487-3489)CGT>TGT	p.R1163C	DHX8_uc010wig.1_Intron	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1163					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		NSCLC(56;1548 1661 49258 49987)								0.375	128.518586	130.173777	45	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41601039	41601039	4694	17	C	T	T	T	351	27	DHX8	1	1
ALOX15	246	broad.mit.edu	37	17	4536594	4536594	+	Missense_Mutation	SNP	C	A	A	rs61099320		TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4536594C>A	uc010vse.1	-	c.1331G>T	c.(1330-1332)GGG>GTG	p.G444V	ALOX15_uc002fyh.2_Missense_Mutation_p.G422V|ALOX15_uc010vsd.1_Missense_Mutation_p.G383V	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	422	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process|oxidation-reduction process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)|lung(1)|skin(1)	3				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)									0.326923	45.56122	46.940812	17	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4536594	4536594	541	17	C	A	A	A	286	22	ALOX15	2	2
HOXB3	3213	broad.mit.edu	37	17	46627830	46627830	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46627830C>T	uc002inn.2	-	c.1162G>A	c.(1162-1164)GGG>AGG	p.G388R	HOXB3_uc010wlm.1_Missense_Mutation_p.G315R|HOXB3_uc010dbf.2_Missense_Mutation_p.G388R|HOXB3_uc010dbg.2_Missense_Mutation_p.G388R|HOXB3_uc002ino.2_Missense_Mutation_p.G388R|HOXB3_uc010wlk.1_Missense_Mutation_p.G256R|HOXB3_uc010wll.1_Missense_Mutation_p.G315R	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	388					angiogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0												OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.162602	34.127154	47.438238	20	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46627830	46627830	7594	17	C	T	T	T	299	23	HOXB3	1	1
KIF2B	84643	broad.mit.edu	37	17	51900917	51900917	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51900917G>T	uc002iua.2	+	c.523G>T	c.(523-525)GCC>TCC	p.A175S		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	175	Potential.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.316239	100.89413	104.432588	37	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51900917	51900917	8609	17	G	T	T	T	494	38	KIF2B	1	1
MARCH10	162333	broad.mit.edu	37	17	60802397	60802397	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60802397G>T	uc010dds.2	-	c.2120C>A	c.(2119-2121)CCA>CAA	p.P707Q	MARCH10_uc010ddr.2_Missense_Mutation_p.P669Q|MARCH10_uc002jag.3_Missense_Mutation_p.P669Q|MARCH10_uc002jah.2_Missense_Mutation_p.P668Q	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	ring finger protein 190	669	RING-CH-type.						ligase activity|zinc ion binding				0														0.125	19.237974	35.729776	15	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60802397	60802397	9682	17	G	T	T	T	611	47	MARCH10	2	2
ACE	1636	broad.mit.edu	37	17	61574261	61574261	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61574261G>T	uc002jau.1	+	c.3606G>T	c.(3604-3606)AAG>AAT	p.K1202N	ACE_uc002jav.1_Missense_Mutation_p.K628N|ACE_uc010ddv.1_Missense_Mutation_p.K429N|ACE_uc010wpj.1_Missense_Mutation_p.K587N|ACE_uc002jaw.1_Non-coding_Transcript|ACE_uc010wpk.1_Missense_Mutation_p.K407N	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1202	Extracellular (Potential).|Peptidase M2 2.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)									0.333333	16.943573	17.386598	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61574261	61574261	137	17	G	T	T	T	438	34	ACE	2	2
ERN1	2081	broad.mit.edu	37	17	62175545	62175545	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62175545C>T	uc002jdz.2	-	c.111G>A	c.(109-111)ACG>ACA	p.T37T		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	37	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9										295				0.206897	53.536762	62.771819	24	92	KEEP	---	---	---	---	capture		Silent	SNP	62175545	62175545	5430	17	C	T	T	T	340	27	ERN1	1	1
ZNF750	79755	broad.mit.edu	37	17	80789581	80789581	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80789581G>A	uc002kga.2	-	c.750C>T	c.(748-750)CAC>CAT	p.H250H	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	250						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)											0.094737	4.404555	20.072319	9	86	KEEP	---	---	---	---	capture		Silent	SNP	80789581	80789581	18730	17	G	A	A	A	516	40	ZNF750	1	1
ZNF521	25925	broad.mit.edu	37	18	22804736	22804736	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22804736C>T	uc002kvk.2	-	c.3146G>A	c.(3145-3147)GGG>GAG	p.G1049E	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.G1049E|ZNF521_uc002kvl.2_Missense_Mutation_p.G829E	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1049					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.1625	26.033822	34.688513	13	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22804736	22804736	18559	18	C	T	T	T	286	22	ZNF521	2	2
ZNF521	25925	broad.mit.edu	37	18	22805482	22805482	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22805482G>A	uc002kvk.2	-	c.2400C>T	c.(2398-2400)TGC>TGT	p.C800C	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.C800C|ZNF521_uc002kvl.2_Silent_p.C580C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	800	C2H2-type 19.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.263158	123.180337	132.810057	50	140	KEEP	---	---	---	---	capture		Silent	SNP	22805482	22805482	18559	18	G	A	A	A	542	42	ZNF521	2	2
DSG1	1828	broad.mit.edu	37	18	28906930	28906930	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28906930G>A	uc002kwp.2	+	c.178G>A	c.(178-180)GAA>AAA	p.E60K		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	60	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.143646	41.821094	63.964949	26	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28906930	28906930	4960	18	G	A	A	A	585	45	DSG1	2	2
KLHL14	57565	broad.mit.edu	37	18	30350335	30350335	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30350335C>A	uc002kxm.1	-	c.220G>T	c.(220-222)GGC>TGC	p.G74C		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	74	BTB.									ovary(1)	1														0.181818	7.285467	9.379914	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30350335	30350335	8682	18	C	A	A	A	299	23	KLHL14	1	1
SETBP1	26040	broad.mit.edu	37	18	42618602	42618602	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42618602G>T	uc010dni.2	+	c.4153G>T	c.(4153-4155)GCA>TCA	p.A1385S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1385						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.376812	75.730459	76.650489	26	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42618602	42618602	14617	18	G	T	T	T	598	46	SETBP1	2	2
TCEB3B	51224	broad.mit.edu	37	18	44560052	44560052	+	Silent	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44560052C>A	uc002lcr.1	-	c.1584G>T	c.(1582-1584)ACG>ACT	p.T528T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	528	Activation domain (By similarity).|Interacting with Elongin BC complex (By similarity).				transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding|transcription elongation regulator activity			ovary(2)|large_intestine(1)|pancreas(1)	4														0.128378	27.35397	47.24509	19	129	KEEP	---	---	---	---	capture		Silent	SNP	44560052	44560052	16208	18	C	A	A	A	340	27	TCEB3B	1	1
TCEB3B	51224	broad.mit.edu	37	18	44560065	44560065	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44560065A>C	uc002lcr.1	-	c.1571T>G	c.(1570-1572)CTC>CGC	p.L524R	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	524	Activation domain (By similarity).				transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding|transcription elongation regulator activity			ovary(2)|large_intestine(1)|pancreas(1)	4														0.122449	25.968531	46.464245	18	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44560065	44560065	16208	18	A	C	C	C	143	11	TCEB3B	4	4
ZFP161	7541	broad.mit.edu	37	18	5291456	5291456	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5291456C>G	uc002kmq.2	-	c.751G>C	c.(751-753)GAA>CAA	p.E251Q	ZFP161_uc002kmr.2_Missense_Mutation_p.E251Q|ZFP161_uc010dkp.2_Missense_Mutation_p.E251Q	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	251					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.201754	61.87758	71.287708	23	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5291456	5291456	18228	18	C	G	G	G	377	29	ZFP161	3	3
RNF152	220441	broad.mit.edu	37	18	59483586	59483586	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59483586C>T	uc002lih.1	-	c.111G>A	c.(109-111)GTG>GTA	p.V37V		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	37	RING-type.				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)												0.407407	89.054923	89.66258	33	48	KEEP	---	---	---	---	capture		Silent	SNP	59483586	59483586	13930	18	C	T	T	T	210	17	RNF152	2	2
SERPINB4	6318	broad.mit.edu	37	18	61310714	61310714	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61310714C>T	uc002ljf.2	-	c.98G>A	c.(97-99)AGC>AAC	p.S33N	SERPINB4_uc002lje.2_Missense_Mutation_p.S33N|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	33					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2										163				0.336032	234.733982	240.616268	83	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61310714	61310714	14591	18	C	T	T	T	364	28	SERPINB4	2	2
KEAP1	9817	broad.mit.edu	37	19	10602719	10602719	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10602719T>A	uc002moq.1	-	c.859A>T	c.(859-861)AAG>TAG	p.K287*	KEAP1_uc002mop.1_Nonsense_Mutation_p.K5*|KEAP1_uc002mor.1_Nonsense_Mutation_p.K287*	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	287					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)											0.481481	71.839911	71.856287	26	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10602719	10602719	8447	19	T	A	A	A	806	62	KEAP1	5	3
LDLR	3949	broad.mit.edu	37	19	11230871	11230871	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11230871A>T	uc002mqk.3	+	c.1949A>T	c.(1948-1950)GAG>GTG	p.E650V	LDLR_uc010xlk.1_Missense_Mutation_p.E650V|LDLR_uc010xll.1_Missense_Mutation_p.E609V|LDLR_uc010xlm.1_Missense_Mutation_p.E503V|LDLR_uc010xln.1_Missense_Mutation_p.E523V|LDLR_uc010xlo.1_Missense_Mutation_p.E482V	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	650	LDL-receptor class B 6.|Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)	2		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GBM(18;201 575 7820 21545)				1109				0.553191	77.752436	77.868171	26	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11230871	11230871	9028	19	A	T	T	T	143	11	LDLR	3	3
OR7A17	26333	broad.mit.edu	37	19	14991993	14991993	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14991993T>A	uc010xob.1	-	c.175A>T	c.(175-177)ATG>TTG	p.M59L		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)													0.483333	95.173626	95.188048	29	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14991993	14991993	11626	19	T	A	A	A	663	51	OR7A17	3	3
SLC1A6	6511	broad.mit.edu	37	19	15079179	15079179	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15079179C>A	uc002naa.1	-	c.484G>T	c.(484-486)GGG>TGG	p.G162W	SLC1A6_uc010dzu.1_Missense_Mutation_p.G162W|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.2_Missense_Mutation_p.G162W|SLC1A6_uc002nac.2_Missense_Mutation_p.G162W|SLC1A6_uc002nad.1_Missense_Mutation_p.G162W	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	162	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)	5					L-Glutamic Acid(DB00142)									0.285714	20.499818	21.647187	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15079179	15079179	14932	19	C	A	A	A	286	22	SLC1A6	2	2
WDR88	126248	broad.mit.edu	37	19	33639782	33639782	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33639782C>T	uc002nui.2	+	c.645C>T	c.(643-645)GAC>GAT	p.D215D		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	215	WD 3.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)													0.455357	152.212739	152.406809	51	61	KEEP	---	---	---	---	capture		Silent	SNP	33639782	33639782	17909	19	C	T	T	T	246	19	WDR88	1	1
PSG6	5675	broad.mit.edu	37	19	43528992	43528992	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43528992G>T	uc002ovh.1	-	c.299C>A	c.(298-300)GCA>GAA	p.A100E	PSG11_uc002ouw.2_Missense_Mutation_p.A100E|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.A100E|PSG11_uc002ovm.1_Missense_Mutation_p.A94E|PSG11_uc002ovn.1_Missense_Mutation_p.A100E|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron	PSG6		Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	93	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00899)												0.310105	235.371075	244.590229	89	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43528992	43528992	13112	19	G	T	T	T	598	46	PSG6	2	2
ZNF404	342908	broad.mit.edu	37	19	44377779	44377779	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44377779A>T	uc002oxs.3	-	c.578T>A	c.(577-579)TTT>TAT	p.F193Y		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	196	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.426829	97.30616	97.689991	35	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44377779	44377779	18479	19	A	T	T	T	13	1	ZNF404	3	3
LILRA1	11024	broad.mit.edu	37	19	55107243	55107244	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55107243_55107244GC>AA	uc002qgh.1	+	c.801_802GC>AA	c.(799-804)CAGCTC>CAAATC	p.L268I	LILRA2_uc010yfg.1_Missense_Mutation_p.L266I|LILRA1_uc010yfh.1_Missense_Mutation_p.L268I	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	268	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0348)										0.439252	143.088243	143.435473	47	60	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	55107243	55107244	9110	19	GC	AA	AA	AA	438	34	LILRA1	2	2
KIR2DL1	3802	broad.mit.edu	37	19	55294945	55294945	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55294945G>A	uc010erz.1	+	c.903G>A	c.(901-903)GCG>GCA	p.A301A	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_5'Flank|KIR2DL3_uc010erw.1_Silent_p.A276A|KIR2DL1_uc002qgz.1_Silent_p.A185A|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc002qhb.1_Silent_p.A275A	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	275	Cytoplasmic (Potential).				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		GBM(72;624 1217 3963 34152 38303)								0.147541	17.236897	24.511756	9	52	KEEP	---	---	---	---	capture		Silent	SNP	55294945	55294945	8628	19	G	A	A	A	496	39	KIR2DL1	1	1
COL11A1	1301	broad.mit.edu	37	1	103480084	103480084	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103480084T>C	uc001dum.2	-	c.1591A>G	c.(1591-1593)ATT>GTT	p.I531V	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Missense_Mutation_p.I519V|COL11A1_uc001dun.2_Missense_Mutation_p.I480V|COL11A1_uc009weh.2_Missense_Mutation_p.I403V	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	519	Telopeptide.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.345455	64.911212	66.069865	19	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103480084	103480084	3805	1	T	C	C	C	637	49	COL11A1	4	4
FNDC7	163479	broad.mit.edu	37	1	109271373	109271373	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109271373C>G	uc001dvx.2	+	c.1489C>G	c.(1489-1491)CTG>GTG	p.L497V	FNDC7_uc010ova.1_Missense_Mutation_p.L264V	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	498	Fibronectin type-III 6.					extracellular region				ovary(1)	1		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)										0.388889	97.086527	97.864407	28	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109271373	109271373	6215	1	C	G	G	G	259	20	FNDC7	3	3
SLC6A17	388662	broad.mit.edu	37	1	110734729	110734729	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110734729G>T	uc009wfq.2	+	c.1000G>T	c.(1000-1002)GCC>TCC	p.A334S	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	334	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)										0.409091	55.643616	55.960773	18	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110734729	110734729	15177	1	G	T	T	T	494	38	SLC6A17	1	1
TRIM45	80263	broad.mit.edu	37	1	117660813	117660813	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117660813C>T	uc001egz.2	-	c.1065G>A	c.(1063-1065)AGG>AGA	p.R355R	TRIM45_uc009whe.2_Silent_p.R355R|TRIM45_uc001eha.2_Silent_p.R251R	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	355						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)										0.437956	174.563194	175.024832	60	77	KEEP	---	---	---	---	capture		Silent	SNP	117660813	117660813	17065	1	C	T	T	T	389	30	TRIM45	2	2
SPRR2G	6706	broad.mit.edu	37	1	153122400	153122400	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153122400G>T	uc009wod.1	-	c.187C>A	c.(187-189)CCC>ACC	p.P63T		NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	63					keratinization	cornified envelope|cytoplasm					0	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.330508	105.439593	108.417289	39	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153122400	153122400	15616	1	G	T	T	T	572	44	SPRR2G	2	2
NTRK1	4914	broad.mit.edu	37	1	156834152	156834152	+	Silent	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156834152C>A	uc001fqh.1	+	c.219C>A	c.(217-219)ATC>ATA	p.I73I	NTRK1_uc001fqf.1_Silent_p.I43I|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.I73I|NTRK1_uc009wsk.1_Silent_p.I73I	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	73	Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|stomach(1)|central_nervous_system(1)	16	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)				p.I73I(JHUEM7-Tumor)	290	TSP Lung(10;0.080)			0.481481	110.514679	110.53856	39	42	KEEP	---	---	---	---	capture		Silent	SNP	156834152	156834152	11111	1	C	A	A	A	395	31	NTRK1	1	1
PYHIN1	149628	broad.mit.edu	37	1	158911926	158911926	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158911926A>G	uc001ftb.2	+	c.739A>G	c.(739-741)ACA>GCA	p.T247A	PYHIN1_uc001ftc.2_Missense_Mutation_p.T238A|PYHIN1_uc001ftd.2_Missense_Mutation_p.T247A|PYHIN1_uc001fte.2_Missense_Mutation_p.T238A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	247	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.254545	85.654107	91.662611	28	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158911926	158911926	13323	1	A	G	G	G	130	10	PYHIN1	4	4
OR10J3	441911	broad.mit.edu	37	1	159284326	159284326	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159284326C>T	uc010piu.1	-	c.124G>A	c.(124-126)GGC>AGC	p.G42S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)													0.238739	273.813117	301.500821	106	338	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159284326	159284326	11317	1	C	T	T	T	273	21	OR10J3	2	2
OR10J5	127385	broad.mit.edu	37	1	159504984	159504984	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159504984C>A	uc010piw.1	-	c.814G>T	c.(814-816)GTT>TTT	p.V272F		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	272	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.235632	104.879269	116.005509	41	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159504984	159504984	11318	1	C	A	A	A	221	17	OR10J5	2	2
SLC9A11	284525	broad.mit.edu	37	1	173478718	173478718	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173478718G>T	uc001giz.2	-	c.3028C>A	c.(3028-3030)CTT>ATT	p.L1010I	SLC9A11_uc009wwe.2_Missense_Mutation_p.L568I	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	1010					sodium ion transport	integral to membrane	solute:hydrogen antiporter activity			ovary(2)	2														0.458333	32.72123	32.757647	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173478718	173478718	15208	1	G	T	T	T	429	33	SLC9A11	2	2
RC3H1	149041	broad.mit.edu	37	1	173953758	173953758	+	Splice_Site_SNP	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173953758C>A	uc010pmt.1	-	c.232_splice	c.e2-1	p.V78_splice	RC3H1_uc001gju.3_Splice_Site_SNP_p.V78_splice|RC3H1_uc010pms.1_Splice_Site_SNP_p.V78_splice|RC3H1_uc001gjv.2_Splice_Site_SNP_p.V78_splice	NM_172071	NP_742068			roquin							cytoplasm	RNA binding|zinc ion binding			ovary(2)	2														0.466667	128.039101	128.126486	42	48	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	173953758	173953758	13635	1	C	A	A	A	312	24	RC3H1	5	2
TNR	7143	broad.mit.edu	37	1	175334162	175334162	+	Silent	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175334162C>A	uc001gkp.1	-	c.2571G>T	c.(2569-2571)GTG>GTT	p.V857V	TNR_uc009wwu.1_Silent_p.V857V	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	857	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.246835	98.655714	107.867413	39	119	KEEP	---	---	---	---	capture		Silent	SNP	175334162	175334162	16879	1	C	A	A	A	262	21	TNR	2	2
PAPPA2	60676	broad.mit.edu	37	1	176668278	176668278	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176668278C>A	uc001gkz.2	+	c.2789C>A	c.(2788-2790)GCC>GAC	p.A930D	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	930					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														0.206522	83.906057	98.554442	38	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176668278	176668278	11850	1	C	A	A	A	338	26	PAPPA2	2	2
CFHR1	3078	broad.mit.edu	37	1	196794714	196794714	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196794714G>T	uc001gtn.2	+	c.166G>T	c.(166-168)GAA>TAA	p.E56*	CFHR1_uc001gtm.2_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	56	Sushi 1.				complement activation	extracellular space					0														0.401869	121.496469	122.399456	43	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	196794714	196794714	3417	1	G	T	T	T	585	45	CFHR1	5	2
LGR6	59352	broad.mit.edu	37	1	202287787	202287787	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202287787T>C	uc001gxu.2	+	c.2356T>C	c.(2356-2358)TAC>CAC	p.Y786H	LGR6_uc001gxv.2_Missense_Mutation_p.Y734H|LGR6_uc009xab.2_Non-coding_Transcript|LGR6_uc001gxw.2_Missense_Mutation_p.Y647H	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	786	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|pancreas(1)	8														0.197917	101.275523	117.561162	38	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202287787	202287787	9084	1	T	C	C	C	689	53	LGR6	4	4
USH2A	7399	broad.mit.edu	37	1	216595449	216595449	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216595449T>A	uc001hku.1	-	c.230A>T	c.(229-231)CAG>CTG	p.Q77L	USH2A_uc001hkv.2_Missense_Mutation_p.Q77L	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	77	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.212766	47.347698	54.515187	20	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216595449	216595449	17598	1	T	A	A	A	715	55	USH2A	3	3
SLC30A10	55532	broad.mit.edu	37	1	220088847	220088847	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220088847G>T	uc001hlw.2	-	c.1402C>A	c.(1402-1404)CAA>AAA	p.Q468K	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Missense_Mutation_p.Q223K|SLC30A10_uc001hlx.2_Missense_Mutation_p.Q243K	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	468	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		Colon(76;360 1614 43677 51136)								0.45738	703.903042	704.655782	220	261	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220088847	220088847	15051	1	G	T	T	T	624	48	SLC30A10	2	2
IARS2	55699	broad.mit.edu	37	1	220307795	220307795	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220307795G>T	uc001hmc.2	+	c.1889G>T	c.(1888-1890)GGT>GTT	p.G630V	IARS2_uc001hmd.2_5'Flank	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	630					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)									0.236641	77.054895	85.363047	31	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220307795	220307795	7774	1	G	T	T	T	572	44	IARS2	2	2
OBSCN	84033	broad.mit.edu	37	1	228482069	228482069	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228482069C>T	uc009xez.1	+	c.11348C>T	c.(11347-11349)TCG>TTG	p.S3783L	OBSCN_uc001hsn.2_Missense_Mutation_p.S3783L|OBSCN_uc001hsq.1_Missense_Mutation_p.S1039L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3783	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.19802	81.688855	98.86952	40	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228482069	228482069	11217	1	C	T	T	T	403	31	OBSCN	1	1
RYR2	6262	broad.mit.edu	37	1	237843841	237843841	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237843841G>T	uc001hyl.1	+	c.8981G>T	c.(8980-8982)GGA>GTA	p.G2994V	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2994	Modulator (Potential).|Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.216216	17.377757	20.128638	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237843841	237843841	14249	1	G	T	T	T	533	41	RYR2	2	2
AKT3	10000	broad.mit.edu	37	1	243663046	243663046	+	Nonstop_Mutation	SNP	T	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:243663046T>G	uc001hzz.1	-	c.1397A>C	c.(1396-1398)TAA>TCA	p.*466S	SDCCAG8_uc001hzw.2_Intron|SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron|SDCCAG8_uc001hzx.2_Intron	NM_181690	NP_859029	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 2	466	AGC-kinase C-terminal.				protein phosphorylation|signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			lung(1)|central_nervous_system(1)	2	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)							274				0.18254	61.759958	73.674256	23	103	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	243663046	243663046	484	1	T	G	G	G	790	61	AKT3	5	4
AKT3	10000	broad.mit.edu	37	1	243809238	243809238	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:243809238C>T	uc001iab.1	-	c.386G>A	c.(385-387)GGA>GAA	p.G129E	AKT3_uc001hzz.1_Missense_Mutation_p.G129E	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	129					protein phosphorylation|signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			lung(1)|central_nervous_system(1)	2	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)							274				0.038251	-28.144375	14.046998	7	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	243809238	243809238	484	1	C	T	T	T	390	30	AKT3	2	2
OR13G1	441933	broad.mit.edu	37	1	247836300	247836300	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247836300G>T	uc001idi.1	-	c.44C>A	c.(43-45)ACC>AAC	p.T15N		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.452632	277.328374	277.699839	86	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247836300	247836300	11348	1	G	T	T	T	572	44	OR13G1	2	2
OR11L1	391189	broad.mit.edu	37	1	248004939	248004939	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248004939G>T	uc001idn.1	-	c.260C>A	c.(259-261)TCC>TAC	p.S87Y		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.169014	19.448939	26.822437	12	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248004939	248004939	11336	1	G	T	T	T	533	41	OR11L1	2	2
OR2M4	26245	broad.mit.edu	37	1	248402357	248402357	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248402357A>T	uc010pzh.1	+	c.127A>T	c.(127-129)ATT>TTT	p.I43F		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|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;0.0245)											0.237458	181.900177	200.713722	71	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248402357	248402357	11418	1	A	T	T	T	208	16	OR2M4	3	3
E2F1	1869	broad.mit.edu	37	20	32267639	32267639	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:32267639C>T	uc002wzu.3	-	c.494G>A	c.(493-495)CGG>CAG	p.R165Q		NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	165	DEF box.|Leucine-zipper.|Potential.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription corepressor activity|transcription factor binding				0										66				0.420635	166.397468	167.078412	53	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32267639	32267639	5052	20	C	T	T	T	299	23	E2F1	1	1
GCFC1	94104	broad.mit.edu	37	21	34117919	34117919	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34117919G>A	uc002yqn.2	-	c.2034C>T	c.(2032-2034)ACC>ACT	p.T678T	GCFC1_uc002yql.2_Silent_p.T187T|GCFC1_uc002yqm.2_Silent_p.T172T|GCFC1_uc002yqo.2_Non-coding_Transcript|GCFC1_uc002yqp.2_Silent_p.T678T	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	678					regulation of transcription, DNA-dependent	cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2														0.265306	168.247654	180.455903	65	180	KEEP	---	---	---	---	capture		Silent	SNP	34117919	34117919	6555	21	G	A	A	A	600	47	GCFC1	2	2
PCNT	5116	broad.mit.edu	37	21	47836155	47836156	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47836155_47836156GC>TT	uc002zji.3	+	c.6323_6324GC>TT	c.(6322-6324)AGC>ATT	p.S2108I	PCNT_uc002zjj.2_Missense_Mutation_p.S1990I	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2108					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)													0.285714	58.412765	61.589259	22	55	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	47836155	47836156	12010	21	GC	TT	TT	TT	442	34	PCNT	2	2
GNAZ	2781	broad.mit.edu	37	22	23438217	23438217	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:23438217G>T	uc002zwu.1	+	c.335G>T	c.(334-336)GGC>GTC	p.G112V	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	112						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)										0.421053	120.588867	121.203808	48	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23438217	23438217	6783	22	G	T	T	T	546	42	GNAZ	2	2
IL1F10	84639	broad.mit.edu	37	2	113831983	113831983	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113831983G>A	uc002tiu.2	+	c.110G>A	c.(109-111)TGC>TAC	p.C37Y	IL1F10_uc002tiv.2_Missense_Mutation_p.C37Y|IL1F10_uc002tiw.2_5'Flank	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10	37						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)	1														0.105263	3.070562	8.958649	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113831983	113831983	7953	2	G	A	A	A	598	46	IL1F10	2	2
GREB1	9687	broad.mit.edu	37	2	11733003	11733004	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11733003_11733004CC>AA	uc002rbk.1	+	c.1447_1448CC>AA	c.(1447-1449)CCG>AAG	p.P483K	GREB1_uc002rbo.1_Missense_Mutation_p.P117K	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	483						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)								0.571429	12.000321	12.031412	4	3	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	11733003	11733004	7037	2	CC	AA	AA	AA	338	26	GREB1	2	2
CYP27C1	339761	broad.mit.edu	37	2	127952938	127952938	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:127952938A>G	uc002tod.2	-	c.692T>C	c.(691-693)GTC>GCC	p.V231A		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	231					oxidation-reduction process	membrane	electron carrier activity|heme binding|monooxygenase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)										0.341463	88.919298	90.81652	28	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127952938	127952938	4325	2	A	G	G	G	130	10	CYP27C1	4	4
MYO7B	4648	broad.mit.edu	37	2	128324318	128324318	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128324318A>G	uc002top.2	+	c.386A>G	c.(385-387)GAG>GGG	p.E129G		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	129	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)										0.26087	33.085916	35.464127	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128324318	128324318	10478	2	A	G	G	G	143	11	MYO7B	4	4
CFC1B	653275	broad.mit.edu	37	2	131356232	131356232	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131356232G>T	uc002tro.1	-	c.230C>A	c.(229-231)TCC>TAC	p.S77Y		NM_001079530	NP_001072998	P0CG36	CFC1B_HUMAN	cripto, FRL-1, cryptic family 1B	77					gastrulation	extracellular region					0	Colorectal(110;0.1)													0.12	8.125145	18.751874	9	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131356232	131356232	3413	2	G	T	T	T	533	41	CFC1B	2	2
GPR148	344561	broad.mit.edu	37	2	131486901	131486901	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131486901G>T	uc002trv.1	+	c.177G>T	c.(175-177)CTG>CTT	p.L59L		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	59	Helical; Name=1; (Potential).			CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Colorectal(110;0.1)													0.189189	13.80328	17.147788	7	30	KEEP	---	---	---	---	capture		Silent	SNP	131486901	131486901	6928	2	G	T	T	T	600	47	GPR148	2	2
NCKAP5	344148	broad.mit.edu	37	2	133541745	133541745	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133541745C>A	uc002ttp.2	-	c.2639G>T	c.(2638-2640)AGC>ATC	p.S880I	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	880							protein binding				0														0.140496	25.587457	40.689439	17	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133541745	133541745	10622	2	C	A	A	A	364	28	NCKAP5	2	2
ZRANB3	84083	broad.mit.edu	37	2	136033319	136033319	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136033319C>T	uc002tum.2	-	c.973G>A	c.(973-975)GCT>ACT	p.A325T	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.A325T|ZRANB3_uc002tun.1_Missense_Mutation_p.A265T	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	325	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(221;0.135)										0.294118	11.267305	11.912966	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136033319	136033319	18828	2	C	T	T	T	325	25	ZRANB3	2	2
RND3	390	broad.mit.edu	37	2	151328209	151328209	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:151328209G>T	uc002txe.2	-	c.415C>A	c.(415-417)CTG>ATG	p.L139M	RND3_uc002txf.2_Missense_Mutation_p.L138M|RND3_uc002txg.2_Missense_Mutation_p.L139M|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Missense_Mutation_p.L10M	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	139					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity				0				BRCA - Breast invasive adenocarcinoma(221;0.106)										0.14881	37.944172	57.858124	25	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151328209	151328209	13898	2	G	T	T	T	425	33	RND3	2	2
SCN3A	6328	broad.mit.edu	37	2	165984179	165984179	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165984179C>T	uc002ucx.2	-	c.3355G>A	c.(3355-3357)GAG>AAG	p.E1119K	SCN3A_uc002ucy.2_Missense_Mutation_p.E1070K|SCN3A_uc002ucz.2_Missense_Mutation_p.E1070K|SCN3A_uc002uda.1_Missense_Mutation_p.E939K|SCN3A_uc002udb.1_Missense_Mutation_p.E939K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1119						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.130081	25.507904	41.889377	16	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165984179	165984179	14400	2	C	T	T	T	416	32	SCN3A	2	2
PXDN	7837	broad.mit.edu	37	2	1668737	1668737	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1668737G>T	uc002qxa.2	-	c.1401C>A	c.(1399-1401)ACC>ACA	p.T467T	PXDN_uc002qxb.1_Silent_p.T467T|PXDN_uc002qxc.1_Silent_p.T284T	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	467	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response|oxidation-reduction process	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)						2093				0.222222	9.289389	10.567886	4	14	KEEP	---	---	---	---	capture		Silent	SNP	1668737	1668737	13305	2	G	T	T	T	600	47	PXDN	2	2
TTN	7273	broad.mit.edu	37	2	179404270	179404270	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179404270G>T	uc010zfg.1	-	c.90818C>A	c.(90817-90819)GCC>GAC	p.A30273D	TTN_uc010zfh.1_Missense_Mutation_p.A23968D|TTN_uc010zfi.1_Missense_Mutation_p.A23901D|TTN_uc010zfj.1_Missense_Mutation_p.A23776D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3270										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				0.306604	173.289372	180.363986	65	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179404270	179404270	17290	2	G	T	T	T	546	42	TTN	2	2
PARD3B	117583	broad.mit.edu	37	2	205986568	205986568	+	Nonsense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:205986568C>T	uc002var.1	+	c.1060C>T	c.(1060-1062)CGA>TGA	p.R354*	PARD3B_uc010fub.1_Nonsense_Mutation_p.R354*|PARD3B_uc002vao.1_Nonsense_Mutation_p.R354*|PARD3B_uc002vap.1_Nonsense_Mutation_p.R354*|PARD3B_uc002vaq.1_Nonsense_Mutation_p.R354*	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	354					cell cycle|cell division	endomembrane system|tight junction				ovary(1)|breast(1)	2		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)										0.30137	61.257635	63.80985	22	51	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	205986568	205986568	11861	2	C	T	T	T	295	23	PARD3B	5	1
CDK5R2	8941	broad.mit.edu	37	2	219824752	219824752	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219824752G>T	uc002vjf.2	+	c.210G>T	c.(208-210)GTG>GTT	p.V70V		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	70					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.52381	33.426242	33.436687	11	10	KEEP	---	---	---	---	capture		Silent	SNP	219824752	219824752	3273	2	G	T	T	T	600	47	CDK5R2	2	2
SPHKAP	80309	broad.mit.edu	37	2	228882330	228882330	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228882330G>T	uc002vpq.2	-	c.3240C>A	c.(3238-3240)GCC>GCA	p.A1080A	SPHKAP_uc002vpp.2_Silent_p.A1080A|SPHKAP_uc010zlx.1_Silent_p.A1080A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1080						cytoplasm	protein binding			ovary(4)|lung(1)	5		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)										0.346939	44.977734	45.982972	17	32	KEEP	---	---	---	---	capture		Silent	SNP	228882330	228882330	15560	2	G	T	T	T	444	35	SPHKAP	2	2
SPHKAP	80309	broad.mit.edu	37	2	228884754	228884754	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228884754G>T	uc002vpq.2	-	c.816C>A	c.(814-816)TAC>TAA	p.Y272*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.Y272*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.Y272*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	272						cytoplasm	protein binding			ovary(4)|lung(1)	5		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)										0.292434	412.196361	431.084544	143	346	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	228884754	228884754	15560	2	G	T	T	T	620	48	SPHKAP	5	2
SPP2	6694	broad.mit.edu	37	2	234975197	234975197	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234975197G>T	uc002vvk.1	+	c.465G>T	c.(463-465)TTG>TTT	p.L155F	SPP2_uc010fyl.1_Missense_Mutation_p.L75F	NM_006944	NP_008875	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa precursor	155					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity				0		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)										0.282828	150.499114	158.899437	56	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234975197	234975197	15600	2	G	T	T	T	607	47	SPP2	2	2
COL6A3	1293	broad.mit.edu	37	2	238244913	238244913	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238244913G>A	uc002vwl.2	-	c.8830C>T	c.(8830-8832)CCT>TCT	p.P2944S	COL6A3_uc002vwo.2_Missense_Mutation_p.P2738S|COL6A3_uc010znj.1_Missense_Mutation_p.P2337S|COL6A3_uc002vwj.2_Missense_Mutation_p.P325S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2944	Nonhelical region.|Ala-rich.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.35	18.719747	19.116405	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238244913	238244913	3839	2	G	A	A	A	546	42	COL6A3	2	2
STRN	6801	broad.mit.edu	37	2	37121062	37121062	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37121062C>A	uc002rpn.2	-	c.910G>T	c.(910-912)GCA>TCA	p.A304S	STRN_uc010ezx.2_Missense_Mutation_p.A304S	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	304					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(717;0.0129)|all_hematologic(82;0.21)												0.28013	227.599844	240.957573	86	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37121062	37121062	15849	2	C	A	A	A	325	25	STRN	2	2
ALLC	55821	broad.mit.edu	37	2	3743913	3743913	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3743913G>T	uc010ewt.2	+	c.716G>T	c.(715-717)AGG>ATG	p.R239M	ALLC_uc002qyf.2_Missense_Mutation_p.R10M	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	258							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)										0.464286	37.965713	37.997188	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3743913	3743913	537	2	G	T	T	T	455	35	ALLC	2	2
PROKR1	10887	broad.mit.edu	37	2	68882018	68882018	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:68882018G>T	uc010yqj.1	+	c.492G>T	c.(490-492)CTG>CTT	p.L164L	PROKR1_uc002ses.2_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	164	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1														0.17	29.552708	39.828238	17	83	KEEP	---	---	---	---	capture		Silent	SNP	68882018	68882018	12995	2	G	T	T	T	600	47	PROKR1	2	2
ARHGAP25	9938	broad.mit.edu	37	2	69002465	69002465	+	Silent	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69002465C>A	uc010fdg.2	+	c.174C>A	c.(172-174)TCC>TCA	p.S58S	ARHGAP25_uc010yqk.1_Silent_p.S32S|ARHGAP25_uc002seu.2_Silent_p.S58S|ARHGAP25_uc010yql.1_Silent_p.S58S|ARHGAP25_uc002sev.2_Silent_p.S51S|ARHGAP25_uc002sew.2_Silent_p.S51S|ARHGAP25_uc002sex.2_Silent_p.S51S|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	58	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.162712	88.309202	120.214511	48	247	KEEP	---	---	---	---	capture		Silent	SNP	69002465	69002465	886	2	C	A	A	A	262	21	ARHGAP25	2	2
LRRTM4	80059	broad.mit.edu	37	2	77745490	77745490	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:77745490C>A	uc002snr.2	-	c.1505G>T	c.(1504-1506)GGA>GTA	p.G502V	LRRTM4_uc002snq.2_Missense_Mutation_p.G502V|LRRTM4_uc002sns.2_Missense_Mutation_p.G502V|LRRTM4_uc002snt.2_Missense_Mutation_p.G503V	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	502	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.1	1.701059	6.498123	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77745490	77745490	9418	2	C	A	A	A	390	30	LRRTM4	2	2
MRPL35	51318	broad.mit.edu	37	2	86437740	86437740	+	Silent	SNP	C	T	T	rs1052060	byFrequency	TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86437740C>T	uc002srg.3	+	c.516C>T	c.(514-516)TAC>TAT	p.Y172Y	MRPL35_uc002srf.3_Intron	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	172					translation	mitochondrial ribosome	structural constituent of ribosome				0														0.317757	94.822071	97.975895	34	73	KEEP	---	---	---	---	capture		Silent	SNP	86437740	86437740	10191	2	C	T	T	T	246	19	MRPL35	1	1
FANCD2	2177	broad.mit.edu	37	3	10106488	10106488	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10106488C>T	uc003buw.2	+	c.2097C>T	c.(2095-2097)CTC>CTT	p.L699L	FANCD2_uc003bux.1_Silent_p.L699L|FANCD2_uc003buy.1_Silent_p.L699L|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	699					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)						587				0.266187	93.102889	99.975366	37	102	KEEP	---	---	---	---	capture		Silent	SNP	10106488	10106488	5901	3	C	T	T	T	379	30	FANCD2	2	2
DNAJB8	165721	broad.mit.edu	37	3	128181682	128181682	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128181682G>T	uc003ekk.1	-	c.407C>A	c.(406-408)GCA>GAA	p.A136E		NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	136					protein folding		heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(114;0.177)										0.386364	48.688987	49.178132	17	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128181682	128181682	4809	3	G	T	T	T	598	46	DNAJB8	2	2
EPHB1	2047	broad.mit.edu	37	3	134967276	134967276	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134967276C>G	uc003eqt.2	+	c.2615C>G	c.(2614-2616)GCG>GGG	p.A872G	EPHB1_uc003equ.2_Missense_Mutation_p.A433G	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	872	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.235294	22.183157	24.361902	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134967276	134967276	5367	3	C	G	G	G	351	27	EPHB1	3	3
PRKCI	5584	broad.mit.edu	37	3	170011269	170011269	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170011269C>A	uc003fgs.2	+	c.1390C>A	c.(1390-1392)CAG>AAG	p.Q464K	PRKCI_uc003fgt.2_Missense_Mutation_p.Q19K	NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	464	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein phosphorylation|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)							551				0.153846	24.785248	35.215854	14	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170011269	170011269	12957	3	C	A	A	A	273	21	PRKCI	2	2
NAALADL2	254827	broad.mit.edu	37	3	175520848	175520848	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:175520848G>T	uc003fit.2	+	c.2245G>T	c.(2245-2247)GCT>TCT	p.A749S		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	749	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)										0.226415	27.004863	30.624993	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175520848	175520848	10525	3	G	T	T	T	546	42	NAALADL2	2	2
USP13	8975	broad.mit.edu	37	3	179399708	179399708	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179399708G>T	uc003fkh.2	+	c.211G>T	c.(211-213)GCC>TCC	p.A71S	USP13_uc003fkf.2_Missense_Mutation_p.A71S	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	71					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)											0.302251	253.024422	263.88641	94	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179399708	179399708	17606	3	G	T	T	T	546	42	USP13	2	2
DVL3	1857	broad.mit.edu	37	3	183885808	183885808	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183885808A>T	uc003fms.2	+	c.1453A>T	c.(1453-1455)ACC>TCC	p.T485S	DVL3_uc011bqw.1_Missense_Mutation_p.T468S|DVL3_uc003fmt.2_Missense_Mutation_p.T156S|DVL3_uc003fmu.2_Missense_Mutation_p.T317S	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	485	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|breast(1)	2	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)											0.398601	179.25104	180.535075	57	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183885808	183885808	5023	3	A	T	T	T	78	6	DVL3	3	3
DNAJB11	51726	broad.mit.edu	37	3	186299261	186299261	+	Silent	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186299261A>G	uc003fqi.2	+	c.558A>G	c.(556-558)CAA>CAG	p.Q186Q		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	186					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)										0.355072	167.439904	169.992479	49	89	KEEP	---	---	---	---	capture		Silent	SNP	186299261	186299261	4799	3	A	G	G	G	11	1	DNAJB11	4	4
EFHB	151651	broad.mit.edu	37	3	19974919	19974919	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19974919G>C	uc003cbl.3	-	c.592C>G	c.(592-594)CAA>GAA	p.Q198E	EFHB_uc003cbm.2_Missense_Mutation_p.Q68E	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	198					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0														0.160839	49.14025	64.787983	23	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19974919	19974919	5133	3	G	C	C	C	611	47	EFHB	3	3
SUSD5	26032	broad.mit.edu	37	3	33194357	33194357	+	Silent	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33194357C>A	uc003cfo.1	-	c.1767G>T	c.(1765-1767)CTG>CTT	p.L589L		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	589	Helical; (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2														0.340426	43.984648	45.042962	16	31	KEEP	---	---	---	---	capture		Silent	SNP	33194357	33194357	15931	3	C	A	A	A	262	21	SUSD5	2	2
STAB1	23166	broad.mit.edu	37	3	52546617	52546617	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52546617G>T	uc003dej.2	+	c.2985G>T	c.(2983-2985)CTG>CTT	p.L995L		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	995	FAS1 3.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)										0.327869	56.877672	58.481145	20	41	KEEP	---	---	---	---	capture		Silent	SNP	52546617	52546617	15755	3	G	T	T	T	600	47	STAB1	2	2
EPHA6	285220	broad.mit.edu	37	3	96533570	96533570	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:96533570T>A	uc010how.1	+	c.103T>A	c.(103-105)TGC>AGC	p.C35S	EPHA6_uc003drp.1_Missense_Mutation_p.C35S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	Error:Variant_position_missing_in_Q9UF33_after_alignment					protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.15	5.912659	8.260529	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96533570	96533570	5364	3	T	A	A	A	767	59	EPHA6	3	3
QRFPR	84109	broad.mit.edu	37	4	122261765	122261765	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122261765C>A	uc010inj.1	-	c.341G>T	c.(340-342)GGT>GTT	p.G114V	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.G114V|QRFPR_uc010inl.1_Missense_Mutation_p.G114V	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	114	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity				0														0.070423	-2.582946	10.935397	5	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122261765	122261765	13336	4	C	A	A	A	234	18	QRFPR	2	2
PHF17	79960	broad.mit.edu	37	4	129793096	129793096	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:129793096A>C	uc003igk.2	+	c.2208A>C	c.(2206-2208)AAA>AAC	p.K736N	PHF17_uc003igl.2_Missense_Mutation_p.K724N|PHF17_uc011cgy.1_Missense_Mutation_p.K736N	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	736					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0														0.137931	12.458626	19.814385	8	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129793096	129793096	12251	4	A	C	C	C	37	3	PHF17	4	4
TRIM60	166655	broad.mit.edu	37	4	165961514	165961514	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:165961514G>T	uc003iqy.1	+	c.290G>T	c.(289-291)TGT>TTT	p.C97F	TRIM60_uc010iqx.1_Missense_Mutation_p.C97F	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	97	B box-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)										0.229885	48.852071	54.673358	20	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165961514	165961514	17081	4	G	T	T	T	624	48	TRIM60	2	2
GBA3	57733	broad.mit.edu	37	4	22748924	22748924	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:22748924G>T	uc003gqp.3	+	c.292G>T	c.(292-294)GAT>TAT	p.D98Y	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.D99Y	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	98					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0														0.098765	10.467155	36.563731	16	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22748924	22748924	6534	4	G	T	T	T	585	45	GBA3	2	2
PCDH7	5099	broad.mit.edu	37	4	30726120	30726120	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:30726120C>A	uc011bxx.1	+	c.3076C>A	c.(3076-3078)CCA>ACA	p.P1026T	PCDH7_uc011bxw.1_Missense_Mutation_p.P979T|PCDH7_uc003gsk.1_Missense_Mutation_p.P1026T	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	1026	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4														0.172414	29.265301	38.093079	15	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30726120	30726120	11936	4	C	A	A	A	234	18	PCDH7	2	2
RHOH	399	broad.mit.edu	37	4	40245040	40245040	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40245040G>T	uc003guz.2	+	c.34G>T	c.(34-36)GAC>TAC	p.D12Y		NM_004310	NP_004301	Q15669	RHOH_HUMAN	ras homolog gene family, member H precursor	12	GTP (By similarity).				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			ovary(1)	1										33				0.358974	80.478813	81.844547	28	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40245040	40245040	13815	4	G	T	T	T	481	37	RHOH	1	1
GABRG1	2565	broad.mit.edu	37	4	46043115	46043115	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46043115C>A	uc003gxb.2	-	c.1288G>T	c.(1288-1290)GGA>TGA	p.G430*		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	430	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)										0.138686	30.851814	48.122491	19	118	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46043115	46043115	6422	4	C	A	A	A	312	24	GABRG1	5	2
TECRL	253017	broad.mit.edu	37	4	65194246	65194246	+	Silent	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:65194246A>G	uc003hcv.2	-	c.315T>C	c.(313-315)GGT>GGC	p.G105G	TECRL_uc003hcw.2_Silent_p.G105G	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	105					lipid metabolic process|oxidation-reduction process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0														0.253333	59.591323	63.732166	19	56	KEEP	---	---	---	---	capture		Silent	SNP	65194246	65194246	16273	4	A	G	G	G	119	10	TECRL	4	4
MRFAP1	93621	broad.mit.edu	37	4	6642869	6642869	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:6642869G>A	uc003gjg.1	+	c.280G>A	c.(280-282)GCC>ACC	p.A94T	MRFAP1_uc003gjh.1_Missense_Mutation_p.A94T	NM_033296	NP_150638	Q9Y605	MOFA1_HUMAN	Mof4 family associated protein 1	94	Potential.					nucleus|perinuclear region of cytoplasm	protein binding				0														0.177778	29.042899	37.84749	16	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6642869	6642869	10153	4	G	A	A	A	546	42	MRFAP1	2	2
EPHA5	2044	broad.mit.edu	37	4	66467674	66467674	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66467674C>A	uc011cah.1	-	c.595G>T	c.(595-597)GTC>TTC	p.V199F	EPHA5_uc003hcx.2_Missense_Mutation_p.V130F|EPHA5_uc003hcy.2_Missense_Mutation_p.V199F|EPHA5_uc003hcz.2_Missense_Mutation_p.V199F|EPHA5_uc011cai.1_Missense_Mutation_p.V199F|EPHA5_uc003hda.2_Missense_Mutation_p.V199F	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	199	Extracellular (Potential).				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15									p.V199F(HCT116-Tumor)	537	TSP Lung(17;0.13)			0.18705	61.464219	74.216329	26	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66467674	66467674	5363	4	C	A	A	A	234	18	EPHA5	2	2
UGT2B11	10720	broad.mit.edu	37	4	70080244	70080244	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70080244G>C	uc003heh.2	-	c.197C>G	c.(196-198)CCC>CGC	p.P66R		NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	66					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.345745	189.524987	193.471431	65	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70080244	70080244	17515	4	G	C	C	C	559	43	UGT2B11	3	3
SH3TC1	54436	broad.mit.edu	37	4	8230363	8230363	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:8230363A>T	uc003gkv.3	+	c.2942A>T	c.(2941-2943)CAC>CTC	p.H981L	SH3TC1_uc003gkw.3_Missense_Mutation_p.H905L|SH3TC1_uc003gkx.3_Non-coding_Transcript|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	981							binding			large_intestine(2)|pancreas(1)	3						NSCLC(145;2298 2623 35616 37297)								0.5625	28.977429	29.032051	9	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8230363	8230363	14753	4	A	T	T	T	78	6	SH3TC1	3	3
GPRIN3	285513	broad.mit.edu	37	4	90170270	90170270	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90170270C>G	uc003hsm.1	-	c.992G>C	c.(991-993)AGA>ACA	p.R331T		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	331										ovary(2)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)										0.181818	33.332441	41.725802	16	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90170270	90170270	7007	4	C	G	G	G	416	32	GPRIN3	3	3
UNC5C	8633	broad.mit.edu	37	4	96123907	96123907	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96123907A>G	uc003htp.1	-	c.2111T>C	c.(2110-2112)CTG>CCG	p.L704P	UNC5C_uc010ilc.1_Missense_Mutation_p.L723P	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	704	Cytoplasmic (Potential).|Interaction with DCC (By similarity).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)										0.481481	78.648666	78.664464	26	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96123907	96123907	17551	4	A	G	G	G	91	7	UNC5C	4	4
DRD5	1816	broad.mit.edu	37	4	9784739	9784739	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9784739C>G	uc003gmb.3	+	c.1086C>G	c.(1084-1086)AAC>AAG	p.N362K		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	362	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.325	83.220481	85.395609	26	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9784739	9784739	4944	4	C	G	G	G	246	19	DRD5	3	3
SEMA6A	57556	broad.mit.edu	37	5	115783392	115783392	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115783392G>A	uc003krx.3	-	c.2061C>T	c.(2059-2061)GTC>GTT	p.V687V	SEMA6A_uc010jck.2_Silent_p.V670V|SEMA6A_uc011cwe.1_Silent_p.V49V|SEMA6A_uc003krv.3_Silent_p.V97V|SEMA6A_uc003krw.3_Silent_p.V147V|SEMA6A_uc010jcj.2_Silent_p.V214V	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	670	Helical; (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)										0.4	55.03983	55.433778	18	27	KEEP	---	---	---	---	capture		Silent	SNP	115783392	115783392	14525	5	G	A	A	A	418	33	SEMA6A	2	2
HSD17B4	3295	broad.mit.edu	37	5	118824886	118824886	+	Splice_Site_SNP	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118824886G>T	uc003ksj.2	+	c.623_splice	c.e9-1	p.D208_splice	HSD17B4_uc011cwg.1_Splice_Site_SNP_p.D184_splice|HSD17B4_uc011cwh.1_Splice_Site_SNP_p.D190_splice|HSD17B4_uc011cwi.1_Splice_Site_SNP_p.D233_splice|HSD17B4_uc003ksk.3_Splice_Site_SNP_p.D61_splice|HSD17B4_uc011cwj.1_Splice_Site_SNP_p.D61_splice|HSD17B4_uc010jcn.1_Splice_Site_SNP	NM_000414	NP_000405			hydroxysteroid (17-beta) dehydrogenase 4						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	Colon(35;490 801 34689 41394 43344)								0.15	34.773439	51.224625	21	119	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118824886	118824886	7681	5	G	T	T	T	429	33	HSD17B4	5	2
FBN2	2201	broad.mit.edu	37	5	127627262	127627262	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127627262G>T	uc003kuu.2	-	c.6251C>A	c.(6250-6252)CCC>CAC	p.P2084H		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2084	EGF-like 35; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.140704	38.413797	63.176074	28	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127627262	127627262	5939	5	G	T	T	T	559	43	FBN2	2	2
PHF15	23338	broad.mit.edu	37	5	133914427	133914427	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:133914427C>T	uc003kzk.2	+	c.1973C>T	c.(1972-1974)ACC>ATC	p.T658I	PHF15_uc011cxt.1_Missense_Mutation_p.T642I|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Missense_Mutation_p.T599I|PHF15_uc003kzn.2_3'UTR|PHF15_uc003kzo.1_Missense_Mutation_p.T598I	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	598					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.243243	20.568508	22.784248	9	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133914427	133914427	12249	5	C	T	T	T	234	18	PHF15	2	2
MYOT	9499	broad.mit.edu	37	5	137217708	137217708	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137217708C>A	uc011cye.1	+	c.730C>A	c.(730-732)CAG>AAG	p.Q244K	MYOT_uc003lbv.2_Missense_Mutation_p.Q244K|MYOT_uc011cyg.1_Missense_Mutation_p.Q60K|MYOT_uc011cyh.1_Missense_Mutation_p.Q129K	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	244	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.161677	50.210801	68.399599	27	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137217708	137217708	10489	5	C	A	A	A	273	21	MYOT	2	2
KDM3B	51780	broad.mit.edu	37	5	137721771	137721771	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137721771G>T	uc003lcy.1	+	c.841G>T	c.(841-843)GGG>TGG	p.G281W	KDM3B_uc010jew.1_5'UTR|KDM3B_uc011cys.1_5'Flank	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	281					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|lung(2)|kidney(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9														0.298077	162.576408	170.153954	62	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137721771	137721771	8433	5	G	T	T	T	559	43	KDM3B	2	2
SLC4A9	83697	broad.mit.edu	37	5	139742048	139742048	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139742048G>T	uc003lfm.2	+	c.810G>T	c.(808-810)CTG>CTT	p.L270L	SLC4A9_uc003lfj.2_Silent_p.L246L|SLC4A9_uc011czg.1_Silent_p.L246L|SLC4A9_uc003lfl.2_Silent_p.L246L|SLC4A9_uc003lfk.2_Silent_p.L246L	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	270	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.341667	114.529695	117.192215	41	79	KEEP	---	---	---	---	capture		Silent	SNP	139742048	139742048	15157	5	G	T	T	T	600	47	SLC4A9	2	2
PCDHA3	56145	broad.mit.edu	37	5	140182490	140182490	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140182490G>A	uc003lhf.2	+	c.1708G>A	c.(1708-1710)GTG>ATG	p.V570M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V570M	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	570	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(5)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.188034	41.241308	51.866361	22	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140182490	140182490	11945	5	G	A	A	A	572	44	PCDHA3	2	2
PCDHA5	56143	broad.mit.edu	37	5	140201397	140201397	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140201397C>A	uc003lhl.2	+	c.37C>A	c.(37-39)CTC>ATC	p.L13I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.L13I|PCDHA5_uc003lhj.1_Missense_Mutation_p.L13I	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	13					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.148515	22.062246	34.039902	15	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140201397	140201397	11947	5	C	A	A	A	364	28	PCDHA5	2	2
PCDHA7	56141	broad.mit.edu	37	5	140216113	140216113	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140216113G>T	uc003lhq.2	+	c.2145G>T	c.(2143-2145)CTG>CTT	p.L715L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.L715L	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	715	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			NSCLC(160;258 2013 5070 22440 28951)								0.172932	45.052105	58.483328	23	110	KEEP	---	---	---	---	capture		Silent	SNP	140216113	140216113	11949	5	G	T	T	T	587	46	PCDHA7	2	2
PCDHB10	56126	broad.mit.edu	37	5	140574291	140574291	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140574291C>T	uc003lix.2	+	c.2166C>T	c.(2164-2166)GCC>GCT	p.A722A		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	722	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.471264	126.436001	126.50059	41	46	KEEP	---	---	---	---	capture		Silent	SNP	140574291	140574291	11955	5	C	T	T	T	301	24	PCDHB10	2	2
SH3TC2	79628	broad.mit.edu	37	5	148406827	148406827	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148406827A>T	uc003lpu.2	-	c.2468T>A	c.(2467-2469)CTA>CAA	p.L823Q	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.2_Missense_Mutation_p.L467Q|SH3TC2_uc003lps.2_Non-coding_Transcript|SH3TC2_uc003lpt.2_Missense_Mutation_p.L370Q|SH3TC2_uc010jgx.2_Missense_Mutation_p.L816Q|SH3TC2_uc003lpv.1_Missense_Mutation_p.L370Q|SH3TC2_uc011dbz.1_Missense_Mutation_p.L708Q	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	823							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.155642	67.816904	96.961943	40	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148406827	148406827	14754	5	A	T	T	T	195	15	SH3TC2	3	3
SYNPO	11346	broad.mit.edu	37	5	150028579	150028579	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150028579C>T	uc003lsn.2	+	c.1474C>T	c.(1474-1476)CCA>TCA	p.P492S	SYNPO_uc003lso.3_Missense_Mutation_p.P248S|SYNPO_uc003lsp.2_Missense_Mutation_p.P248S	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	492					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.28777	95.234031	100.857278	40	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150028579	150028579	15977	5	C	T	T	T	338	26	SYNPO	2	2
LARP1	23367	broad.mit.edu	37	5	154183157	154183157	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154183157C>A	uc003lvp.2	+	c.2291C>A	c.(2290-2292)GCC>GAC	p.A764D	LARP1_uc003lvo.2_Missense_Mutation_p.A687D|LARP1_uc010jie.1_Missense_Mutation_p.A559D	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	764							protein binding|RNA binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.177419	19.282629	25.366165	11	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154183157	154183157	8951	5	C	A	A	A	338	26	LARP1	2	2
FBXL7	23194	broad.mit.edu	37	5	15928571	15928571	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15928571G>C	uc003jfn.1	+	c.700G>C	c.(700-702)GTG>CTG	p.V234L		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	234	LRR 3.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.154545	38.517197	51.050284	17	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15928571	15928571	5961	5	G	C	C	C	572	44	FBXL7	3	3
LCP2	3937	broad.mit.edu	37	5	169701312	169701312	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169701312G>T	uc003man.1	-	c.317C>A	c.(316-318)TCG>TAG	p.S106*	LCP2_uc011det.1_5'UTR	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	106					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)										0.25	15.939041	17.302118	6	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	169701312	169701312	9016	5	G	T	T	T	481	37	LCP2	5	1
HK3	3101	broad.mit.edu	37	5	176314590	176314590	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176314590C>A	uc003mfa.2	-	c.1462G>T	c.(1462-1464)GCC>TCC	p.A488S	HK3_uc003mez.2_Missense_Mutation_p.A44S	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	488	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|breast(1)	5	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.222222	37.059057	42.172279	16	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176314590	176314590	7483	5	C	A	A	A	338	26	HK3	2	2
BTNL9	153579	broad.mit.edu	37	5	180477326	180477326	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180477326T>A	uc003mmt.2	+	c.693T>A	c.(691-693)AAT>AAA	p.N231K	BTNL9_uc011dhi.1_Missense_Mutation_p.N162K	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	231	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.345324	133.556682	136.493786	48	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180477326	180477326	1602	5	T	A	A	A	647	50	BTNL9	3	3
HEATR7B2	133558	broad.mit.edu	37	5	41049501	41049501	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41049501G>T	uc003jmj.3	-	c.1382C>A	c.(1381-1383)GCA>GAA	p.A461E	HEATR7B2_uc003jmi.3_Missense_Mutation_p.A16E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	461							binding			ovary(6)|central_nervous_system(2)	8														0.113636	4.639339	11.124652	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41049501	41049501	7318	5	G	T	T	T	598	46	HEATR7B2	2	2
HCN1	348980	broad.mit.edu	37	5	45396799	45396799	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45396799C>A	uc003jok.2	-	c.1025G>T	c.(1024-1026)GGA>GTA	p.G342V		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	342	Extracellular (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.104348	8.329759	26.228665	12	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45396799	45396799	7278	5	C	A	A	A	390	30	HCN1	2	2
DDX4	54514	broad.mit.edu	37	5	55059013	55059013	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:55059013G>T	uc003jqg.3	+	c.216G>T	c.(214-216)GAG>GAT	p.E72D	DDX4_uc010ivz.2_Missense_Mutation_p.E72D|DDX4_uc003jqh.3_Missense_Mutation_p.E72D	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	72	Gly-rich.				multicellular organismal development|sperm motility	pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)												0.166667	32.003926	42.756483	17	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55059013	55059013	4531	5	G	T	T	T	464	36	DDX4	2	2
ADCY2	108	broad.mit.edu	37	5	7521012	7521012	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7521012G>C	uc003jdz.1	+	c.570G>C	c.(568-570)CAG>CAC	p.Q190H		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	190	Helical; (Potential).			VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.254545	71.129193	77.160787	28	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7521012	7521012	295	5	G	C	C	C	451	35	ADCY2	3	3
AP3B1	8546	broad.mit.edu	37	5	77409635	77409635	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:77409635C>T	uc003kfj.2	-	c.2190G>A	c.(2188-2190)CGG>CGA	p.R730R		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	730	Glu/Ser-rich.				endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)										0.084507	3.487633	40.809924	18	195	KEEP	---	---	---	---	capture		Silent	SNP	77409635	77409635	754	5	C	T	T	T	275	22	AP3B1	2	2
VCAN	1462	broad.mit.edu	37	5	82836721	82836722	+	Nonsense_Mutation	DNP	GG	CT	CT			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82836721_82836722GG>CT	uc003kii.3	+	c.7899_7900GG>CT	c.(7897-7902)GAGGAA>GACTAA	p.2633_2634EE>D*	VCAN_uc003kij.3_Nonsense_Mutation_p.1646_1647EE>D*|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Nonsense_Mutation_p.1297_1298EE>D*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2633_2634	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.196532	88.140932	102.994389	34	139	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	82836721	82836722	17703	5	GG	CT	CT	CT	451	35	VCAN	5	3
PTPRK	5796	broad.mit.edu	37	6	128388674	128388674	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128388674C>A	uc011ebu.1	-	c.2147G>T	c.(2146-2148)AGT>ATT	p.S716I	PTPRK_uc003qbj.2_Missense_Mutation_p.S716I|PTPRK_uc010kfc.2_Missense_Mutation_p.S716I|PTPRK_uc003qbk.2_Missense_Mutation_p.S716I|PTPRK_uc003qbl.1_Missense_Mutation_p.S586I|PTPRK_uc011ebv.1_Missense_Mutation_p.S716I	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	716	Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)										0.309859	61.81889	64.108569	22	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128388674	128388674	13262	6	C	A	A	A	260	20	PTPRK	2	2
IL20RA	53832	broad.mit.edu	37	6	137323091	137323091	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:137323091C>T	uc003qhj.2	-	c.1266G>A	c.(1264-1266)CAG>CAA	p.Q422Q	IL20RA_uc011edl.1_Silent_p.Q373Q|IL20RA_uc003qhk.2_Silent_p.Q311Q|IL20RA_uc003qhi.2_Silent_p.Q154Q	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	422	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)										0.306306	99.50617	103.220993	34	77	KEEP	---	---	---	---	capture		Silent	SNP	137323091	137323091	7969	6	C	T	T	T	311	24	IL20RA	2	2
OLIG3	167826	broad.mit.edu	37	6	137814889	137814889	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:137814889G>C	uc003qhp.1	-	c.419C>G	c.(418-420)TCC>TGC	p.S140C		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)										0.226667	49.154718	54.284958	17	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137814889	137814889	11267	6	G	C	C	C	533	41	OLIG3	3	3
SNX9	51429	broad.mit.edu	37	6	158363843	158363843	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:158363843G>T	uc003qqv.1	+	c.1761G>T	c.(1759-1761)CAG>CAT	p.Q587H		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	587	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)										0.194805	31.689157	38.372455	15	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158363843	158363843	15409	6	G	T	T	T	451	35	SNX9	2	2
WTAP	9589	broad.mit.edu	37	6	160176455	160176455	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160176455G>T	uc003qsl.2	+	c.1003G>T	c.(1003-1005)GGG>TGG	p.G335W	WTAP_uc003qso.2_Missense_Mutation_p.G216W	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	335					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)										0.327434	93.625408	96.615463	37	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160176455	160176455	17983	6	G	T	T	T	559	43	WTAP	2	2
KIF25	3834	broad.mit.edu	37	6	168434609	168434609	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:168434609G>C	uc003qwk.1	+	c.215G>C	c.(214-216)AGC>ACC	p.S72T	KIF25_uc003qwl.1_Missense_Mutation_p.S72T	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	72	Kinesin-motor.|ATP (By similarity).				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)										0.285714	78.077372	81.853023	26	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168434609	168434609	8604	6	G	C	C	C	442	34	KIF25	3	3
GPLD1	2822	broad.mit.edu	37	6	24467399	24467399	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24467399C>T	uc003ned.1	-	c.649G>A	c.(649-651)GAA>AAA	p.E217K	GPLD1_uc010jpr.1_Missense_Mutation_p.E54K|GPLD1_uc010jps.1_Missense_Mutation_p.E217K	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	217						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3														0.084211	0.922309	17.604989	8	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24467399	24467399	6888	6	C	T	T	T	416	32	GPLD1	2	2
ZNF184	7738	broad.mit.edu	37	6	27419486	27419486	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27419486C>A	uc003njj.2	-	c.1852G>T	c.(1852-1854)GAG>TAG	p.E618*	ZNF184_uc010jqv.2_Nonsense_Mutation_p.E618*|ZNF184_uc003nji.2_Nonsense_Mutation_p.E618*	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	618	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.430712	333.670181	334.790375	115	152	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27419486	27419486	18342	6	C	A	A	A	377	29	ZNF184	5	2
GPX5	2880	broad.mit.edu	37	6	28501750	28501750	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28501750C>A	uc003nll.2	+	c.472C>A	c.(472-474)CAT>AAT	p.H158N	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	glutathione peroxidase 5 isoform 1 precursor	158					lipid metabolic process|oxidation-reduction process|response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)									0.172018	138.618422	182.983389	75	361	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28501750	28501750	7019	6	C	A	A	A	377	29	GPX5	2	2
OR12D2	26529	broad.mit.edu	37	6	29364696	29364696	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29364696G>C	uc003nmf.3	+	c.220G>C	c.(220-222)GTG>CTG	p.V74L		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	74	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.214286	104.915281	117.571473	36	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29364696	29364696	11337	6	G	C	C	C	572	44	OR12D2	3	3
PPT2	9374	broad.mit.edu	37	6	32130715	32130715	+	Silent	SNP	T	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32130715T>G	uc003nzw.2	+	c.915T>G	c.(913-915)CCT>CCG	p.P305P	PPT2_uc003nzx.2_Silent_p.P299P|PPT2_uc011dpi.1_Intron|PPT2_uc003nzy.1_Intron|PPT2_uc003nzz.2_Silent_p.P299P|PPT2_uc003oaa.2_Silent_p.P299P|PPT2_uc010jtu.1_Intron|EGFL8_uc003oac.1_5'Flank|EGFL8_uc003oab.1_5'Flank	NM_138717	NP_619731	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform b	299					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0														0.260417	284.220796	304.177534	100	284	KEEP	---	---	---	---	capture		Silent	SNP	32130715	32130715	12848	6	T	G	G	G	717	56	PPT2	4	4
NOTCH4	4855	broad.mit.edu	37	6	32178542	32178542	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32178542C>A	uc003obb.2	-	c.2852G>T	c.(2851-2853)GGG>GTG	p.G951V	NOTCH4_uc011dpu.1_Non-coding_Transcript|NOTCH4_uc011dpv.1_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	951	Extracellular (Potential).|EGF-like 24.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.226994	86.700092	97.845411	37	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32178542	32178542	10954	6	C	A	A	A	286	22	NOTCH4	2	2
SYNGAP1	8831	broad.mit.edu	37	6	33406232	33406232	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33406232C>T	uc011dri.1	+	c.1423C>T	c.(1423-1425)CGG>TGG	p.R475W	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R460W|SYNGAP1_uc010juy.2_Missense_Mutation_p.R460W|SYNGAP1_uc010juz.2_Missense_Mutation_p.R187W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	475	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4														0.127413	48.845276	83.86151	33	226	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33406232	33406232	15968	6	C	T	T	T	295	23	SYNGAP1	1	1
CRIP3	401262	broad.mit.edu	37	6	43275371	43275371	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43275371C>A	uc010jyn.1	-	c.307G>T	c.(307-309)GGC>TGC	p.G103C	CRIP3_uc003ouu.1_Missense_Mutation_p.G103C	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	103						cytoplasm	zinc ion binding				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)											0.366279	177.979407	180.683658	63	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43275371	43275371	4015	6	C	A	A	A	273	21	CRIP3	2	2
TFAP2B	7021	broad.mit.edu	37	6	50791330	50791330	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50791330C>T	uc003pag.2	+	c.292C>T	c.(292-294)CTG>TTG	p.L98L		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	98	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter, global	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					Pancreas(116;1373 2332 5475 10752)								0.378788	68.153475	69.006115	25	41	KEEP	---	---	---	---	capture		Silent	SNP	50791330	50791330	16316	6	C	T	T	T	259	20	TFAP2B	2	2
LAMB1	3912	broad.mit.edu	37	7	107605017	107605017	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107605017C>G	uc003vev.2	-	c.1750G>C	c.(1750-1752)GAG>CAG	p.E584Q	LAMB1_uc003vew.2_Missense_Mutation_p.E560Q|LAMB1_uc003vex.2_Missense_Mutation_p.E560Q|LAMB1_uc010ljn.1_Missense_Mutation_p.E646Q	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	560	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)	4					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.425	242.879748	243.66382	68	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107605017	107605017	8933	7	C	G	G	G	390	30	LAMB1	3	3
LAMB4	22798	broad.mit.edu	37	7	107708514	107708514	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107708514C>T	uc010ljo.1	-	c.2393G>A	c.(2392-2394)TGC>TAC	p.C798Y	LAMB4_uc003vey.2_Missense_Mutation_p.C798Y	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	798	Laminin EGF-like 6.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.157635	49.853303	72.570835	32	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107708514	107708514	8936	7	C	T	T	T	325	25	LAMB4	2	2
NRCAM	4897	broad.mit.edu	37	7	107800925	107800925	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107800925C>A	uc003vfb.2	-	c.3479G>T	c.(3478-3480)CGG>CTG	p.R1160L	NRCAM_uc003vfc.2_Missense_Mutation_p.R1039L|NRCAM_uc011kmk.1_Missense_Mutation_p.R1062L|NRCAM_uc003vfd.2_Missense_Mutation_p.R1043L|NRCAM_uc003vfe.2_Missense_Mutation_p.R1031L|NRCAM_uc003vfa.2_Missense_Mutation_p.R4L|NRCAM_uc011kmj.1_Missense_Mutation_p.R6L	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	1160	Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5														0.313725	44.394273	45.962432	16	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107800925	107800925	11049	7	C	A	A	A	299	23	NRCAM	1	1
FOXP2	93986	broad.mit.edu	37	7	114271723	114271723	+	Silent	SNP	T	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:114271723T>A	uc003vgz.2	+	c.813T>A	c.(811-813)CCT>CCA	p.P271P	FOXP2_uc003vgu.2_Non-coding_Transcript|FOXP2_uc003vha.2_Silent_p.P154P|FOXP2_uc003vhb.2_Silent_p.P246P|FOXP2_uc011kmu.1_Silent_p.P263P|FOXP2_uc011kmv.1_Silent_p.P245P|FOXP2_uc010ljz.1_Silent_p.P154P|FOXP2_uc003vgt.1_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.P246P|FOXP2_uc003vgx.2_Silent_p.P246P|FOXP2_uc003vhd.2_Silent_p.P246P|FOXP2_uc003vhc.2_Silent_p.P271P	NM_148898	NP_683696	O15409	FOXP2_HUMAN	forkhead box P2 isoform II	246	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|lung(1)|breast(1)|pancreas(1)	7														0.409091	78.926917	79.397822	27	39	KEEP	---	---	---	---	capture		Silent	SNP	114271723	114271723	6273	7	T	A	A	A	704	55	FOXP2	3	3
LMOD2	442721	broad.mit.edu	37	7	123302395	123302395	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123302395C>A	uc003vky.2	+	c.755C>A	c.(754-756)GCC>GAC	p.A252D		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	252						cytoskeleton	actin binding|tropomyosin binding				0														0.071429	-2.044157	8.554411	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123302395	123302395	9186	7	C	A	A	A	338	26	LMOD2	2	2
NRF1	4899	broad.mit.edu	37	7	129348982	129348982	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129348982G>T	uc003vpa.2	+	c.674G>T	c.(673-675)GGG>GTG	p.G225V	NRF1_uc003voz.2_Missense_Mutation_p.G225V|NRF1_uc011kpa.1_Missense_Mutation_p.G64V|NRF1_uc003vpb.2_Missense_Mutation_p.G225V	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	225					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1														0.306122	354.585238	369.304773	135	306	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129348982	129348982	11051	7	G	T	T	T	559	43	NRF1	2	2
CPA1	1357	broad.mit.edu	37	7	130025024	130025024	+	Nonsense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130025024C>G	uc003vpx.2	+	c.825C>G	c.(823-825)TAC>TAG	p.Y275*	CPA1_uc003vpw.2_Nonsense_Mutation_p.Y109*	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	275					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.311475	64.104648	66.034065	19	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130025024	130025024	3927	7	C	G	G	G	233	18	CPA1	5	3
PLXNA4	91584	broad.mit.edu	37	7	131831381	131831381	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131831381C>A	uc003vra.3	-	c.4943G>T	c.(4942-4944)GGA>GTA	p.G1648V	PLXNA4_uc003vqz.3_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1648	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.341969	339.423993	347.922325	132	254	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131831381	131831381	12548	7	C	A	A	A	390	30	PLXNA4	2	2
TRPV5	56302	broad.mit.edu	37	7	142612698	142612698	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142612698C>T	uc003wby.1	-	c.1163G>A	c.(1162-1164)GGG>GAG	p.G388E		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	388	Helical; (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.222222	23.524334	26.719993	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142612698	142612698	17150	7	C	T	T	T	286	22	TRPV5	2	2
TAS2R39	259285	broad.mit.edu	37	7	142881280	142881280	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142881280C>T	uc011ksw.1	+	c.769C>T	c.(769-771)CAC>TAC	p.H257Y		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	257	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0	Melanoma(164;0.059)													0.343949	143.990097	147.37274	54	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142881280	142881280	16098	7	C	T	T	T	377	29	TAS2R39	2	2
CNTNAP2	26047	broad.mit.edu	37	7	146818081	146818081	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:146818081G>C	uc003weu.1	+	c.765G>C	c.(763-765)CAG>CAC	p.Q255H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	255	Laminin G-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.347826	80.77964	82.189805	24	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146818081	146818081	3785	7	G	C	C	C	438	34	CNTNAP2	3	3
ZNF862	643641	broad.mit.edu	37	7	149545230	149545230	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149545230G>T	uc010lpn.2	+	c.648G>T	c.(646-648)CGG>CGT	p.R216R	ZNF862_uc003wgm.2_Non-coding_Transcript	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	216	TTF-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1														0.121212	8.24487	17.546023	8	58	KEEP	---	---	---	---	capture		Silent	SNP	149545230	149545230	18798	7	G	T	T	T	561	44	ZNF862	2	2
ABP1	26	broad.mit.edu	37	7	150554475	150554475	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150554475A>G	uc003wia.1	+	c.917A>G	c.(916-918)CAC>CGC	p.H306R	ABP1_uc003why.1_Missense_Mutation_p.H306R|ABP1_uc003whz.1_Missense_Mutation_p.H306R	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	306					amine metabolic process|oxidation-reduction process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	Pancreas(195;1227 3054 24912 28503)								0.4	23.392792	23.56833	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150554475	150554475	99	7	A	G	G	G	78	6	ABP1	4	4
ABCF2	10061	broad.mit.edu	37	7	150918751	150918751	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150918751C>A	uc003wjo.1	-	c.834G>T	c.(832-834)TTG>TTT	p.L278F	ABCF2_uc003wjp.2_Missense_Mutation_p.L278F	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	278	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.338462	249.210189	255.214345	88	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150918751	150918751	67	7	C	A	A	A	272	21	ABCF2	2	2
TMEM195	392636	broad.mit.edu	37	7	15601460	15601460	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15601460G>T	uc003stb.1	-	c.11C>A	c.(10-12)CCA>CAA	p.P4Q		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	4					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0														0.358696	96.772799	98.380293	33	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15601460	15601460	16652	7	G	T	T	T	611	47	TMEM195	2	2
NCAPG2	54892	broad.mit.edu	37	7	158468325	158468325	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:158468325C>T	uc011kwe.1	-	c.1170G>A	c.(1168-1170)CCG>CCA	p.P390P	NCAPG2_uc010lqu.1_Silent_p.P182P|NCAPG2_uc003wnv.1_Silent_p.P390P|NCAPG2_uc003wnw.1_Intron|NCAPG2_uc003wnx.1_Silent_p.P390P	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	390					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)										0.151786	30.699507	43.704478	17	95	KEEP	---	---	---	---	capture		Silent	SNP	158468325	158468325	10607	7	C	T	T	T	392	31	NCAPG2	1	1
HERPUD2	64224	broad.mit.edu	37	7	35733804	35733804	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:35733804G>A	uc003tet.2	-	c.137C>T	c.(136-138)CCT>CTT	p.P46L	HERPUD2_uc003tes.3_Missense_Mutation_p.P46L	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	46	Ubiquitin-like.				response to unfolded protein	integral to membrane				ovary(3)	3														0.202703	109.547003	127.771228	45	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35733804	35733804	7347	7	G	A	A	A	455	35	HERPUD2	2	2
INHBA	3624	broad.mit.edu	37	7	41729879	41729879	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:41729879G>C	uc003thq.2	-	c.650C>G	c.(649-651)ACC>AGC	p.T217S	INHBA_uc003thr.2_Missense_Mutation_p.T217S	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	217					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway|regulation of gene-specific transcription from RNA polymerase II promoter	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity|transcription activator activity			lung(5)|ovary(1)	6										102	TSP Lung(11;0.080)			0.322034	63.106323	64.764643	19	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41729879	41729879	8042	7	G	C	C	C	572	44	INHBA	3	3
GCK	2645	broad.mit.edu	37	7	44189441	44189441	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44189441C>T	uc003tkk.1	-	c.600G>A	c.(598-600)GTG>GTA	p.V200V	GCK_uc003tkj.1_Silent_p.V198V|GCK_uc003tkl.2_Silent_p.V199V	NM_033507	NP_277042	P35557	HXK4_HUMAN	glucokinase isoform 2	199					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			lung(1)|skin(1)	2									p.V199V(MOLP2-Tumor)	356				0.352941	60.972995	62.272261	24	44	KEEP	---	---	---	---	capture		Silent	SNP	44189441	44189441	6559	7	C	T	T	T	262	21	GCK	2	2
NPC1L1	29881	broad.mit.edu	37	7	44579150	44579150	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44579150C>T	uc003tlb.2	-	c.846G>A	c.(844-846)CCG>CCA	p.P282P	NPC1L1_uc003tlc.2_Silent_p.P282P|NPC1L1_uc011kbw.1_Silent_p.P282P|NPC1L1_uc003tld.2_Silent_p.P282P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	282	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)	4					Ezetimibe(DB00973)									0.1875	32.091037	39.397187	15	65	KEEP	---	---	---	---	capture		Silent	SNP	44579150	44579150	10975	7	C	T	T	T	288	23	NPC1L1	1	1
ADCY1	107	broad.mit.edu	37	7	45743342	45743342	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45743342C>T	uc003tne.3	+	c.2715C>T	c.(2713-2715)GAC>GAT	p.D905D		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	905	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|central_nervous_system(1)	4					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.351064	93.447432	95.286413	33	61	KEEP	---	---	---	---	capture		Silent	SNP	45743342	45743342	293	7	C	T	T	T	246	19	ADCY1	1	1
LANCL2	55915	broad.mit.edu	37	7	55467749	55467749	+	Silent	SNP	G	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55467749G>C	uc003tqp.2	+	c.630G>C	c.(628-630)CTG>CTC	p.L210L		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	210					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)	1	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)											0.372222	233.797318	236.371984	67	113	KEEP	---	---	---	---	capture		Silent	SNP	55467749	55467749	8944	7	G	C	C	C	574	45	LANCL2	3	3
FKBP6	8468	broad.mit.edu	37	7	72756838	72756838	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72756838G>T	uc003tya.2	+	c.925G>T	c.(925-927)GAA>TAA	p.E309*	FKBP6_uc003twz.2_Nonsense_Mutation_p.E279*|FKBP6_uc011kew.1_Nonsense_Mutation_p.E304*	NM_003602	NP_003593	O75344	FKBP6_HUMAN	FK506 binding protein 6 isoform a	309					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)										OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.36036	213.720342	217.538494	80	142	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72756838	72756838	6150	7	G	T	T	T	429	33	FKBP6	5	2
GTPBP10	85865	broad.mit.edu	37	7	90003668	90003668	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:90003668G>T	uc003ukm.1	+	c.591G>T	c.(589-591)CAG>CAT	p.Q197H	GTPBP10_uc003uki.1_Missense_Mutation_p.Q214H|GTPBP10_uc003ukj.1_Missense_Mutation_p.Q188H|GTPBP10_uc003ukk.1_Non-coding_Transcript|GTPBP10_uc003ukl.1_Non-coding_Transcript|GTPBP10_uc003ukn.1_Missense_Mutation_p.Q118H|GTPBP10_uc003uko.1_Missense_Mutation_p.Q7H	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2	197					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0														0.340909	88.221694	90.190877	30	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90003668	90003668	7159	7	G	T	T	T	451	35	GTPBP10	2	2
CSMD3	114788	broad.mit.edu	37	8	113421166	113421166	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113421166G>A	uc003ynu.2	-	c.5491C>T	c.(5491-5493)CTC>TTC	p.L1831F	CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Missense_Mutation_p.L1791F|CSMD3_uc011lhx.1_Missense_Mutation_p.L1727F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1831	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.282143	229.198138	241.142884	79	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113421166	113421166	4087	8	G	A	A	A	455	35	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113484912	113484912	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113484912C>A	uc003ynu.2	-	c.5303G>T	c.(5302-5304)GGT>GTT	p.G1768V	CSMD3_uc003yns.2_Missense_Mutation_p.G1040V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1728V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1664V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1768	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.32381	93.617709	96.508841	34	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113484912	113484912	4087	8	C	A	A	A	234	18	CSMD3	2	2
ADCY8	114	broad.mit.edu	37	8	131833668	131833669	+	Splice_Site_DNP	DNP	TG	CT	CT			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131833668_131833669TG>CT	uc003ytd.3	-	c.2676_splice	c.e13-1	p.E892_splice	ADCY8_uc010mds.2_Splice_Site_DNP_p.E761_splice	NM_001115	NP_001106			adenylate cyclase 8						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.386364	61.66648	62.163988	17	27	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	131833668	131833669	301	8	TG	CT	CT	CT	715	55	ADCY8	5	4
OC90	729330	broad.mit.edu	37	8	133045310	133045310	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133045310C>G	uc003ytg.2	-	c.835G>C	c.(835-837)GAT>CAT	p.D279H	OC90_uc011lix.1_Missense_Mutation_p.D279H	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	295					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)											0.318182	23.016184	23.663188	7	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133045310	133045310	11219	8	C	G	G	G	377	29	OC90	3	3
PHF20L1	51105	broad.mit.edu	37	8	133858080	133858080	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133858080C>T	uc003ytt.2	+	c.2966C>T	c.(2965-2967)GCA>GTA	p.A989V	PHF20L1_uc011lja.1_Missense_Mutation_p.A963V	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	989							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)											0.223214	51.506533	59.406825	25	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133858080	133858080	12255	8	C	T	T	T	325	25	PHF20L1	2	2
ADAMDEC1	27299	broad.mit.edu	37	8	24249805	24249805	+	Missense_Mutation	SNP	C	A	A	rs61731546	by1000genomes	TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24249805C>A	uc003xdz.2	+	c.119C>A	c.(118-120)ACG>AAG	p.T40K	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_Intron	NM_014479	NP_055294	O15204	ADEC1_HUMAN	ADAM-like, decysin 1 isoform 1	40					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding				0		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		Ovarian(147;687 1849 3699 25981 31337)								0.169355	45.595661	58.429138	21	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24249805	24249805	255	8	C	A	A	A	247	19	ADAMDEC1	1	1
CSMD1	64478	broad.mit.edu	37	8	3038645	3038645	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3038645G>T	uc011kwk.1	-	c.5715C>A	c.(5713-5715)CAC>CAA	p.H1905Q	CSMD1_uc011kwj.1_Missense_Mutation_p.H1297Q|CSMD1_uc003wqe.2_Missense_Mutation_p.H1061Q|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1905	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.3	30.982314	32.413114	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3038645	3038645	4085	8	G	T	T	T	568	44	CSMD1	2	2
RAB11FIP1	80223	broad.mit.edu	37	8	37735015	37735015	+	Silent	SNP	A	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37735015A>T	uc003xkm.1	-	c.426T>A	c.(424-426)ATT>ATA	p.I142I	RAB11FIP1_uc010lvz.1_5'UTR|RAB11FIP1_uc003xkn.1_Silent_p.I142I|RAB11FIP1_uc003xkp.1_5'UTR	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	142					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)	1		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)											0.329949	182.230522	187.268469	65	132	KEEP	---	---	---	---	capture		Silent	SNP	37735015	37735015	13352	8	A	T	T	T	60	5	RAB11FIP1	3	3
ADAM18	8749	broad.mit.edu	37	8	39564357	39564357	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:39564357C>A	uc003xni.2	+	c.1951C>A	c.(1951-1953)CCA>ACA	p.P651T	ADAM18_uc010lww.2_Non-coding_Transcript|ADAM18_uc010lwx.2_Missense_Mutation_p.P627T	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	651	EGF-like.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|ovary(1)|kidney(1)|skin(1)	5		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)							493				0.23913	25.698807	28.559742	11	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39564357	39564357	240	8	C	A	A	A	390	30	ADAM18	2	2
PRKDC	5591	broad.mit.edu	37	8	48701799	48701799	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48701799C>A	uc003xqi.2	-	c.10671G>T	c.(10669-10671)AGG>AGT	p.R3557S	PRKDC_uc003xqj.2_Missense_Mutation_p.R3557S|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3557					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.384615	28.242658	28.546546	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48701799	48701799	12964	8	C	A	A	A	389	30	PRKDC	2	2
ST18	9705	broad.mit.edu	37	8	53079524	53079524	+	Silent	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53079524C>T	uc003xqz.2	-	c.1092G>A	c.(1090-1092)AGG>AGA	p.R364R	ST18_uc011ldq.1_Silent_p.R11R|ST18_uc011ldr.1_Silent_p.R329R|ST18_uc011lds.1_Silent_p.R269R|ST18_uc003xra.2_Silent_p.R364R|ST18_uc003xrb.2_Silent_p.R364R	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	364						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.315217	167.979354	173.570655	58	126	KEEP	---	---	---	---	capture		Silent	SNP	53079524	53079524	15730	8	C	T	T	T	285	22	ST18	2	2
RP1	6101	broad.mit.edu	37	8	55539921	55539921	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:55539921C>A	uc003xsd.1	+	c.3479C>A	c.(3478-3480)ACA>AAA	p.T1160K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1160					cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			Colon(91;1014 1389 7634 14542 40420)								0.291005	155.040868	162.441334	55	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55539921	55539921	14011	8	C	A	A	A	221	17	RP1	2	2
KCNB2	9312	broad.mit.edu	37	8	73480430	73480430	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:73480430G>A	uc003xzb.2	+	c.461G>A	c.(460-462)CGA>CAA	p.R154Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	154	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4	Breast(64;0.137)		Epithelial(68;0.105)											0.043333	-40.949186	26.081395	13	287	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73480430	73480430	8318	8	G	A	A	A	481	37	KCNB2	1	1
ZFHX4	79776	broad.mit.edu	37	8	77618080	77618080	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77618080C>G	uc003yav.2	+	c.1757C>G	c.(1756-1758)GCC>GGC	p.A586G	ZFHX4_uc003yat.1_Missense_Mutation_p.A586G|ZFHX4_uc003yau.1_Missense_Mutation_p.A586G|ZFHX4_uc003yaw.1_Missense_Mutation_p.A586G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	586					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.390476	135.620468	136.73118	41	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77618080	77618080	18223	8	C	G	G	G	338	26	ZFHX4	3	3
ZFHX4	79776	broad.mit.edu	37	8	77776737	77776737	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77776737C>T	uc003yav.2	+	c.10652C>T	c.(10651-10653)GCT>GTT	p.A3551V		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3547					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.269231	37.01936	39.524336	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77776737	77776737	18223	8	C	T	T	T	364	28	ZFHX4	2	2
SLC10A5	347051	broad.mit.edu	37	8	82606934	82606934	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:82606934T>C	uc011lfs.1	-	c.274A>G	c.(274-276)ACT>GCT	p.T92A		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	92	Extracellular (Potential).					integral to membrane	bile acid:sodium symporter activity				0														0.301818	265.918792	275.564094	83	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82606934	82606934	14872	8	T	C	C	C	754	58	SLC10A5	4	4
MMP16	4325	broad.mit.edu	37	8	89086945	89086945	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89086945G>T	uc003yeb.3	-	c.1110C>A	c.(1108-1110)AAC>AAA	p.N370K	MMP16_uc003yec.2_Missense_Mutation_p.N370K	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	370	Extracellular (Potential).|Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	5														0.303371	151.508773	157.636585	54	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89086945	89086945	10045	8	G	T	T	T	620	48	MMP16	2	2
RAD54B	25788	broad.mit.edu	37	8	95390503	95390503	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95390503T>C	uc003ygk.2	-	c.2420A>G	c.(2419-2421)GAA>GGA	p.E807G		NM_012415	NP_036547	Q9Y620	RA54B_HUMAN	RAD54 homolog B	807	Helicase C-terminal.				mitotic recombination|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA helicase activity|RNA helicase activity			kidney(2)|lung(1)	3	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)											0.314815	56.45746	58.103872	17	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95390503	95390503	13452	8	T	C	C	C	806	62	RAD54B	4	4
C9orf30	91283	broad.mit.edu	37	9	103213106	103213106	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:103213106A>G	uc004baw.2	+	c.686A>G	c.(685-687)GAG>GGG	p.E229G	TMEFF1_uc004bay.1_Intron|C9orf30_uc004bax.2_Non-coding_Transcript	NM_080655	NP_542386	Q96H12	CI030_HUMAN	hypothetical protein LOC91283	229	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(62;0.0527)												0.308824	69.551957	71.765316	21	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103213106	103213106	2593	9	A	G	G	G	143	11	C9orf30	4	4
OR13D1	286365	broad.mit.edu	37	9	107457008	107457008	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107457008C>A	uc011lvs.1	+	c.306C>A	c.(304-306)GAC>GAA	p.D102E		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	102	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.314286	431.425622	446.490383	154	336	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107457008	107457008	11346	9	C	A	A	A	220	17	OR13D1	2	2
SVEP1	79987	broad.mit.edu	37	9	113169069	113169069	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113169069C>A	uc010mtz.2	-	c.8811G>T	c.(8809-8811)TGG>TGT	p.W2937C	SVEP1_uc010mty.2_Missense_Mutation_p.W863C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2937	Sushi 25.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.38141	332.742298	336.592483	119	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113169069	113169069	15940	9	C	A	A	A	286	22	SVEP1	2	2
TLR4	7099	broad.mit.edu	37	9	120475067	120475067	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120475067G>A	uc004bjz.2	+	c.661G>A	c.(661-663)GGT>AGT	p.G221S	TLR4_uc004bka.2_Missense_Mutation_p.G181S|TLR4_uc004bkb.2_Missense_Mutation_p.G21S	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	221	LRR 7.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.180556	60.958491	74.775837	26	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120475067	120475067	16483	9	G	A	A	A	455	35	TLR4	2	2
TTF1	7270	broad.mit.edu	37	9	135278199	135278199	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135278199C>A	uc004cbl.2	-	c.10G>T	c.(10-12)GAA>TAA	p.E4*	TTF1_uc011mcp.1_Non-coding_Transcript|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	4	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|pancreas(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)										0.115789	11.454504	25.265424	11	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	135278199	135278199	17273	9	C	A	A	A	416	32	TTF1	5	2
C9orf173	441476	broad.mit.edu	37	9	140146898	140146898	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140146898G>A	uc004cmj.1	+	c.413G>A	c.(412-414)GGC>GAC	p.G138D	C9orf173_uc011meu.1_Non-coding_Transcript|C9orf173_uc004cmk.1_Missense_Mutation_p.G137D|C9orf173_uc010ncd.1_Non-coding_Transcript|C9orf173_uc011mev.1_Missense_Mutation_p.G137D|C9orf173_uc004cml.1_Missense_Mutation_p.G137D|COBRA1_uc004cmm.3_5'Flank	NM_001004353	NP_001004353	Q8N7X2	CI173_HUMAN	hypothetical protein LOC441476	138										pancreas(1)	1														0.230769	14.785994	16.478925	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140146898	140146898	2587	9	G	A	A	A	546	42	C9orf173	2	2
HAUS6	54801	broad.mit.edu	37	9	19082957	19082957	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:19082957C>A	uc003znk.2	-	c.784G>T	c.(784-786)GTT>TTT	p.V262F	HAUS6_uc011lmz.1_Missense_Mutation_p.V17F|HAUS6_uc003znl.1_Missense_Mutation_p.V126F|HAUS6_uc003znm.1_Missense_Mutation_p.V17F	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	262					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2														0.1	6.841355	19.627565	8	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19082957	19082957	7252	9	C	A	A	A	221	17	HAUS6	2	2
DNAI1	27019	broad.mit.edu	37	9	34500817	34500817	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34500817G>T	uc003zum.2	+	c.999G>T	c.(997-999)CTG>CTT	p.L333L		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	333					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)								OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.116279	6.94189	13.174383	5	38	KEEP	---	---	---	---	capture		Silent	SNP	34500817	34500817	4792	9	G	T	T	T	613	48	DNAI1	2	2
PGM5	5239	broad.mit.edu	37	9	71114208	71114208	+	Silent	SNP	G	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71114208G>A	uc004agr.2	+	c.1545G>A	c.(1543-1545)GTG>GTA	p.V515V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	515					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2														0.408537	179.908499	181.101466	67	97	KEEP	---	---	---	---	capture		Silent	SNP	71114208	71114208	12224	9	G	A	A	A	587	46	PGM5	2	2
PTPRD	5789	broad.mit.edu	37	9	8339047	8339047	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8339047C>A	uc003zkk.2	-	c.5254G>T	c.(5254-5256)GAG>TAG	p.E1752*	PTPRD_uc003zkp.2_Nonsense_Mutation_p.E1346*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.E1345*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.E1336*|PTPRD_uc003zks.2_Nonsense_Mutation_p.E1345*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.E1743*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.E1739*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.E1341*|PTPRD_uc003zko.2_Nonsense_Mutation_p.E1342*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1752	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.3125	40.80587	42.309038	15	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	8339047	8339047	13256	9	C	A	A	A	390	30	PTPRD	5	2
FGD3	89846	broad.mit.edu	37	9	95797636	95797636	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95797636G>T	uc004asw.2	+	c.1943G>T	c.(1942-1944)CGC>CTC	p.R648L	FGD3_uc004asx.2_Missense_Mutation_p.R647L|FGD3_uc004asz.2_Missense_Mutation_p.R648L|FGD3_uc011luc.1_Missense_Mutation_p.R251L	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	648	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(1)|breast(1)	2														0.307692	19.785845	20.645773	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95797636	95797636	6071	9	G	T	T	T	494	38	FGD3	1	1
KIAA1210	57481	broad.mit.edu	37	X	118222823	118222823	+	Silent	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118222823C>A	uc004era.3	-	c.2370G>T	c.(2368-2370)GGG>GGT	p.G790G		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	790										ovary(4)|skin(1)	5														0.424242	41.641877	41.80747	14	19	KEEP	---	---	---	---	capture		Silent	SNP	118222823	118222823	8522	23	C	A	A	A	275	22	KIAA1210	2	2
DCAF12L1	139170	broad.mit.edu	37	X	125685455	125685455	+	Silent	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125685455G>T	uc004eul.2	-	c.1137C>A	c.(1135-1137)GCC>GCA	p.A379A		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	379	WD 4.									skin(3)	3														0.368421	59.658773	60.526678	21	36	KEEP	---	---	---	---	capture		Silent	SNP	125685455	125685455	4435	23	G	T	T	T	548	43	DCAF12L1	2	2
MAGEA3	4102	broad.mit.edu	37	X	151935925	151935925	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151935925C>A	uc004fgp.2	-	c.242G>T	c.(241-243)AGC>ATC	p.S81I		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	81											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.655172	58.930722	59.54641	19	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151935925	151935925	9546	23	C	A	A	A	364	28	MAGEA3	2	2
MAGEB16	139604	broad.mit.edu	37	X	35820648	35820648	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:35820648C>T	uc010ngt.1	+	c.335C>T	c.(334-336)GCT>GTT	p.A112V		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	112										lung(3)|ovary(2)|breast(1)	6										43				0.533333	25.697715	25.712007	8	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35820648	35820648	9555	23	C	T	T	T	364	28	MAGEB16	2	2
FGD1	2245	broad.mit.edu	37	X	54497132	54497132	+	Silent	SNP	G	T	T	rs113204374		TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54497132G>T	uc004dtg.2	-	c.543C>A	c.(541-543)CCC>CCA	p.P181P	FGD1_uc011moi.1_5'Flank	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	181	SH3-binding (Potential).|Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6														0.6	15.744343	15.830496	6	4	KEEP	---	---	---	---	capture		Silent	SNP	54497132	54497132	6069	23	G	T	T	T	548	43	FGD1	2	2
TRO	7216	broad.mit.edu	37	X	54949684	54949684	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54949684A>G	uc004dtq.2	+	c.719A>G	c.(718-720)AAT>AGT	p.N240S	TRO_uc011moj.1_Missense_Mutation_p.N183S|TRO_uc004dts.2_Missense_Mutation_p.N240S|TRO_uc004dtr.2_Missense_Mutation_p.N240S|TRO_uc004dtt.2_Non-coding_Transcript|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	240					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1														0.666667	29.510309	29.81154	8	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54949684	54949684	17125	23	A	G	G	G	52	4	TRO	4	4
NLGN4X	57502	broad.mit.edu	37	X	6069150	6069150	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:6069150G>T	uc010ndi.2	-	c.358C>A	c.(358-360)CTG>ATG	p.L120M	NLGN4X_uc004crp.2_Missense_Mutation_p.L120M|NLGN4X_uc010ndh.2_Missense_Mutation_p.L120M|NLGN4X_uc004crq.2_Missense_Mutation_p.L120M|NLGN4X_uc004crr.2_Missense_Mutation_p.L120M|NLGN4X_uc010ndj.2_Missense_Mutation_p.L120M	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	120	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.37234	107.999579	109.345902	35	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6069150	6069150	10867	23	G	T	T	T	464	36	NLGN4X	2	2
NEDD4	4734	broad.mit.edu	37	15	56243739	56243739	+	Frame_Shift_Del	DEL	A	-	-			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:56243739_56243739delA	uc002adl.2	-	c.168_168delT	c.(166-168)CTTfs	p.L56fs		NM_006154	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	Error:Variant_position_missing_in_P46934_after_alignment					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	56243739	56243739	10709	15	A	-	-	-	158	13	NEDD4	5	5
OR6F1	343169	broad.mit.edu	37	1	247876030	247876030	+	Frame_Shift_Del	DEL	G	-	-			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247876030_247876030delG	uc001idj.1	-	c.28_28delC	c.(28-30)CAGfs	p.Q10fs		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.44			113	143		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	247876030	247876030	11611	1	G	-	-	-	611	47	OR6F1	5	5
SYN2	6854	broad.mit.edu	37	3	12228949	12228949	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4677-01	TCGA-73-4677-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12228949_12228949delC	uc003bwm.2	+	c.1450_1450delC	c.(1450-1452)CCAfs	p.P484fs	SYN2_uc003bwn.2_Frame_Shift_Del_p.P158fs	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	synapsin II isoform IIa	484					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	12228949	12228949	15962	3	C	-	-	-	338	26	SYN2	5	5
