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
PKD2L1	9033	broad.mit.edu	37	10	102054707	102054707	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102054707G>A	uc001kqx.1	-	c.1530C>T	c.(1528-1530)ATC>ATT	p.I510I	PKD2L1_uc009xwm.1_Silent_p.I463I	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	510	Extracellular (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)										0.354839	31.314934	31.891146	11	20	KEEP	---	---	---	---	capture		Silent	SNP	102054707	102054707	12392	10	G	A	A	A	577	45	PKD2L1	2	2
HPS6	79803	broad.mit.edu	37	10	103827022	103827022	+	Silent	SNP	A	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103827022A>C	uc001kuj.2	+	c.1791A>C	c.(1789-1791)GCA>GCC	p.A597A		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	597						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)										0.333333	14.612155	15.184732	7	14	KEEP	---	---	---	---	capture		Silent	SNP	103827022	103827022	7635	10	A	C	C	C	80	7	HPS6	4	4
AFAP1L2	84632	broad.mit.edu	37	10	116068192	116068192	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116068192C>T	uc010qse.1	-	c.1126G>A	c.(1126-1128)GTC>ATC	p.V376I	AFAP1L2_uc001lbn.2_Missense_Mutation_p.V323I|AFAP1L2_uc001lbo.2_Missense_Mutation_p.V323I|AFAP1L2_uc001lbp.2_Missense_Mutation_p.V351I|AFAP1L2_uc001lbr.1_Missense_Mutation_p.V323I	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	323					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)										0.25	11.23486	12.115709	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116068192	116068192	356	10	C	T	T	T	299	23	AFAP1L2	1	1
KCNK18	338567	broad.mit.edu	37	10	118969197	118969197	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118969197G>T	uc010qsr.1	+	c.542G>T	c.(541-543)TGC>TTC	p.C181F		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	181	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Colorectal(252;0.19)		all cancers(201;0.0211)										0.382353	36.058282	36.473391	13	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118969197	118969197	8370	10	G	T	T	T	598	46	KCNK18	2	2
NSMCE4A	54780	broad.mit.edu	37	10	123724810	123724810	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:123724810C>A	uc001lfs.2	-	c.744G>T	c.(742-744)ATG>ATT	p.M248I	NSMCE4A_uc009xzv.2_Missense_Mutation_p.M248I|NSMCE4A_uc001lft.2_Missense_Mutation_p.M89I|NSMCE4A_uc010qtu.1_Missense_Mutation_p.M89I|NSMCE4A_uc001lfu.1_Missense_Mutation_p.M248I	NM_017615	NP_060085	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A	248											0		all_neural(114;0.138)|Glioma(114;0.222)												0.311111	38.833071	40.263163	14	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123724810	123724810	11082	10	C	A	A	A	325	25	NSMCE4A	2	2
MKI67	4288	broad.mit.edu	37	10	129910277	129910277	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129910277C>A	uc001lke.2	-	c.2002G>T	c.(2002-2004)GGT>TGT	p.G668C	MKI67_uc001lkf.2_Missense_Mutation_p.G308C|MKI67_uc009yav.1_Missense_Mutation_p.G243C|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	668					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)												0.3	32.081743	33.512904	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129910277	129910277	9988	10	C	A	A	A	273	21	MKI67	2	2
MKI67	4288	broad.mit.edu	37	10	129911753	129911753	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129911753C>A	uc001lke.2	-	c.1594G>T	c.(1594-1596)GCC>TCC	p.A532S	MKI67_uc001lkf.2_Missense_Mutation_p.A172S|MKI67_uc009yav.1_Missense_Mutation_p.A107S|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	532					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)												0.241935	35.291217	39.059458	15	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129911753	129911753	9988	10	C	A	A	A	364	28	MKI67	2	2
NEBL	10529	broad.mit.edu	37	10	21108438	21108438	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21108438T>C	uc001iqi.2	-	c.1970A>G	c.(1969-1971)TAT>TGT	p.Y657C	NEBL_uc001iqj.2_Non-coding_Transcript|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_Non-coding_Transcript	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	657	Nebulin 18.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2														0.347458	131.555333	133.971636	41	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21108438	21108438	10702	10	T	C	C	C	637	49	NEBL	4	4
ARMC3	219681	broad.mit.edu	37	10	23287196	23287196	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23287196G>C	uc001irm.3	+	c.1295G>C	c.(1294-1296)CGC>CCC	p.R432P	ARMC3_uc010qcv.1_Missense_Mutation_p.R432P|ARMC3_uc010qcw.1_Missense_Mutation_p.R169P	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	432	ARM 11.						binding				0														0.352941	19.448274	19.770975	6	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23287196	23287196	970	10	G	C	C	C	494	38	ARMC3	3	3
PCDH15	65217	broad.mit.edu	37	10	56106161	56106161	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:56106161C>T	uc010qhy.1	-	c.573G>A	c.(571-573)CAG>CAA	p.Q191Q	PCDH15_uc010qhq.1_Silent_p.Q191Q|PCDH15_uc010qhr.1_Silent_p.Q186Q|PCDH15_uc010qhs.1_Silent_p.Q191Q|PCDH15_uc010qht.1_Silent_p.Q186Q|PCDH15_uc010qhu.1_Silent_p.Q186Q|PCDH15_uc001jjv.1_Silent_p.Q164Q|PCDH15_uc010qhv.1_Silent_p.Q186Q|PCDH15_uc010qhw.1_Silent_p.Q186Q|PCDH15_uc010qhx.1_Silent_p.Q186Q|PCDH15_uc010qhz.1_Silent_p.Q186Q|PCDH15_uc010qia.1_Silent_p.Q164Q|PCDH15_uc001jju.1_Silent_p.Q186Q|PCDH15_uc010qib.1_Silent_p.Q164Q|PCDH15_uc001jjw.2_Silent_p.Q186Q	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	186	Extracellular (Potential).|Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.261538	44.542058	47.889181	17	48	KEEP	---	---	---	---	capture		Silent	SNP	56106161	56106161	11931	10	C	T	T	T	415	32	PCDH15	2	2
PFKFB3	5209	broad.mit.edu	37	10	6268301	6268301	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:6268301G>T	uc010qaw.1	+	c.1530G>T	c.(1528-1530)CCG>CCT	p.P510P	PFKFB3_uc001ijd.2_Silent_p.P476P|PFKFB3_uc009xii.2_Non-coding_Transcript|PFKFB3_uc001ije.2_Silent_p.P496P|PFKFB3_uc001ijf.2_Silent_p.P496P|PFKFB3_uc001ijg.2_Non-coding_Transcript|PFKFB3_uc009xij.2_Non-coding_Transcript|PFKFB3_uc009xik.2_Non-coding_Transcript|PFKFB3_uc009xil.2_Intron	NM_001145443	NP_001138915	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	496	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3														0.1875	5.715015	7.178828	3	13	KEEP	---	---	---	---	capture		Silent	SNP	6268301	6268301	12184	10	G	T	T	T	496	39	PFKFB3	1	1
HKDC1	80201	broad.mit.edu	37	10	71008190	71008190	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71008190C>T	uc001jpf.3	+	c.1276C>T	c.(1276-1278)CGC>TGC	p.R426C	HKDC1_uc010qje.1_Missense_Mutation_p.R289C	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	426					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)	4														0.061224	-7.024693	12.667032	6	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71008190	71008190	7484	10	C	T	T	T	247	19	HKDC1	1	1
SFMBT2	57713	broad.mit.edu	37	10	7262396	7262396	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7262396C>A	uc009xio.1	-	c.1307G>T	c.(1306-1308)CGG>CTG	p.R436L	SFMBT2_uc001ijn.1_Missense_Mutation_p.R436L|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	436	MBT 4.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6														0.41	248.411667	249.825943	82	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7262396	7262396	14647	10	C	A	A	A	299	23	SFMBT2	1	1
EXOC6	54536	broad.mit.edu	37	10	94688096	94688096	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94688096G>T	uc010qnr.1	+	c.937G>T	c.(937-939)GGT>TGT	p.G313C	EXOC6_uc001kie.2_Missense_Mutation_p.G292C|EXOC6_uc001kig.2_Missense_Mutation_p.G297C|EXOC6_uc009xub.2_Missense_Mutation_p.G297C|EXOC6_uc009xuc.2_Missense_Mutation_p.G274C|EXOC6_uc001kih.2_Non-coding_Transcript	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform b	297					protein transport|vesicle docking involved in exocytosis	exocyst					0		Colorectal(252;0.123)												0.297872	34.928703	36.647217	14	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94688096	94688096	5501	10	G	T	T	T	559	43	EXOC6	2	2
SORBS1	10580	broad.mit.edu	37	10	97078177	97078177	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97078177T>A	uc001kkp.2	-	c.3711A>T	c.(3709-3711)CAA>CAT	p.Q1237H	SORBS1_uc001kkk.2_Missense_Mutation_p.Q493H|SORBS1_uc001kkl.2_Missense_Mutation_p.Q581H|SORBS1_uc001kkn.2_Missense_Mutation_p.Q744H|SORBS1_uc001kkm.2_Missense_Mutation_p.Q779H|SORBS1_uc001kko.2_Missense_Mutation_p.Q1096H|SORBS1_uc001kkq.2_Missense_Mutation_p.Q850H|SORBS1_uc001kkr.2_Missense_Mutation_p.Q685H|SORBS1_uc001kks.2_Missense_Mutation_p.Q629H|SORBS1_uc001kkt.2_Non-coding_Transcript|SORBS1_uc001kku.2_Missense_Mutation_p.Q726H|SORBS1_uc001kkv.2_Missense_Mutation_p.Q761H|SORBS1_uc001kkw.2_Missense_Mutation_p.Q1211H|SORBS1_uc010qoe.1_Missense_Mutation_p.Q694H	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	1237	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)										0.238095	47.355308	52.620822	20	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97078177	97078177	15427	10	T	A	A	A	725	56	SORBS1	3	3
DIXDC1	85458	broad.mit.edu	37	11	111853179	111853179	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111853179G>T	uc001pml.2	+	c.886G>T	c.(886-888)GAG>TAG	p.E296*	DIXDC1_uc001pmm.2_Nonsense_Mutation_p.E85*|DIXDC1_uc001pmn.2_Nonsense_Mutation_p.E2*	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	296	Potential.|Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)								OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.37037	27.241028	27.640418	10	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	111853179	111853179	4720	11	G	T	T	T	533	41	DIXDC1	5	2
NCAM1	4684	broad.mit.edu	37	11	113085193	113085193	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113085193C>A	uc009yyq.1	+	c.665C>A	c.(664-666)ACC>AAC	p.T222N	NCAM1_uc001pno.2_Missense_Mutation_p.T222N	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	340	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)						700				0.416667	29.244593	29.390341	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113085193	113085193	10601	11	C	A	A	A	234	18	NCAM1	2	2
OR8D2	283160	broad.mit.edu	37	11	124189594	124189594	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124189594G>A	uc010sah.1	-	c.500C>T	c.(499-501)TCA>TTA	p.S167L		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)										0.333333	93.912496	96.423512	34	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124189594	124189594	11643	11	G	A	A	A	585	45	OR8D2	2	2
INSC	387755	broad.mit.edu	37	11	15222402	15222402	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15222402C>A	uc001mly.2	+	c.867C>A	c.(865-867)TGC>TGA	p.C289*	INSC_uc001mlz.2_Nonsense_Mutation_p.C242*|INSC_uc001mma.2_Nonsense_Mutation_p.C242*|INSC_uc010rcs.1_Nonsense_Mutation_p.C277*|INSC_uc001mmb.2_Nonsense_Mutation_p.C242*|INSC_uc001mmc.2_Intron	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	289					cell differentiation|nervous system development	cytoplasm	binding			ovary(2)|central_nervous_system(1)	3														0.25	11.064442	12.201708	5	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	15222402	15222402	8065	11	C	A	A	A	337	26	INSC	5	2
NELL1	4745	broad.mit.edu	37	11	21581904	21581904	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:21581904C>A	uc009yid.2	+	c.2040C>A	c.(2038-2040)GAC>GAA	p.D680E	NELL1_uc001mqe.2_Missense_Mutation_p.D652E|NELL1_uc001mqf.2_Missense_Mutation_p.D605E|NELL1_uc010rdo.1_Missense_Mutation_p.D595E|NELL1_uc010rdp.1_Missense_Mutation_p.D365E|NELL1_uc001mqh.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	652	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.311111	38.732322	40.162841	14	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21581904	21581904	10732	11	C	A	A	A	220	17	NELL1	2	2
OR51D1	390038	broad.mit.edu	37	11	4661750	4661750	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4661750C>T	uc010qyk.1	+	c.730C>T	c.(730-732)CGG>TGG	p.R244W		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	244	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.331081	133.759921	137.484724	49	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4661750	4661750	11503	11	C	T	T	T	399	31	OR51D1	1	1
OR51E1	143503	broad.mit.edu	37	11	4674587	4674587	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4674587C>A	uc001lzi.3	+	c.831C>A	c.(829-831)ATC>ATA	p.I277I		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.289855	101.848595	107.30787	40	98	KEEP	---	---	---	---	capture		Silent	SNP	4674587	4674587	11504	11	C	A	A	A	408	32	OR51E1	2	2
OR51A7	119687	broad.mit.edu	37	11	4928962	4928962	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4928962C>T	uc010qyq.1	+	c.363C>T	c.(361-363)GAC>GAT	p.D121D		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.372549	54.612168	55.339752	19	32	KEEP	---	---	---	---	capture		Silent	SNP	4928962	4928962	11498	11	C	T	T	T	233	18	OR51A7	2	2
OR4C13	283092	broad.mit.edu	37	11	49974626	49974626	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49974626G>A	uc010rhz.1	+	c.652G>A	c.(652-654)GTC>ATC	p.V218I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	218	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.092308	3.323844	14.178262	6	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49974626	49974626	11453	11	G	A	A	A	572	44	OR4C13	2	2
OR51V1	283111	broad.mit.edu	37	11	5221254	5221254	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5221254G>T	uc010qyz.1	-	c.677C>A	c.(676-678)TCC>TAC	p.S226Y		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	226	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.27027	24.533083	26.295125	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5221254	5221254	11517	11	G	T	T	T	533	41	OR51V1	2	2
HBD	3045	broad.mit.edu	37	11	5254298	5254298	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5254298C>A	uc001maf.1	-	c.340G>T	c.(340-342)GTG>TTG	p.V114L		NM_000519	NP_000510	P02042	HBD_HUMAN	delta globin	114					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)						3				0.205479	32.832486	38.670834	15	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5254298	5254298	7261	11	C	A	A	A	221	17	HBD	2	2
OR5M3	219482	broad.mit.edu	37	11	56237803	56237803	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56237803C>T	uc010rjk.1	-	c.171G>A	c.(169-171)ATG>ATA	p.M57I		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.310811	60.896917	63.256488	23	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56237803	56237803	11585	11	C	T	T	T	221	17	OR5M3	2	2
OR1S2	219958	broad.mit.edu	37	11	57971642	57971642	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57971642C>G	uc010rkb.1	-	c.12G>C	c.(10-12)TTG>TTC	p.L4F		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)												0.37931	74.439107	75.179266	22	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57971642	57971642	11379	11	C	G	G	G	220	17	OR1S2	3	3
GLYATL1	92292	broad.mit.edu	37	11	58722338	58722338	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58722338C>A	uc001nnh.1	+	c.375C>A	c.(373-375)ATC>ATA	p.I125I	GLYATL1_uc001nnf.2_Silent_p.I94I|GLYATL1_uc001nni.1_Silent_p.I94I|GLYATL1_uc001nnj.1_Silent_p.I94I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	94						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)									0.28	20.115464	21.202632	7	18	KEEP	---	---	---	---	capture		Silent	SNP	58722338	58722338	6748	11	C	A	A	A	395	31	GLYATL1	1	1
TRIM3	10612	broad.mit.edu	37	11	6479487	6479487	+	Silent	SNP	T	C	C	rs41275192	by1000genomes	TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6479487T>C	uc001mdh.2	-	c.171A>G	c.(169-171)CTA>CTG	p.L57L	TRIM3_uc001mdi.2_Silent_p.L57L|TRIM3_uc010raj.1_5'UTR|TRIM3_uc009yfd.2_Silent_p.L57L|TRIM3_uc010rak.1_Silent_p.L57L|TRIM3_uc001mdj.2_5'UTR	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	57	RING-type.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Melanoma(6;5 510 1540 25169 29084)								0.066667	-3.183938	11.417762	5	70	KEEP	---	---	---	---	capture		Silent	SNP	6479487	6479487	17048	11	T	C	C	C	626	49	TRIM3	4	4
MTL5	9633	broad.mit.edu	37	11	68506246	68506246	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:68506246G>C	uc001ooc.2	-	c.839C>G	c.(838-840)GCC>GGC	p.A280G	MTL5_uc001ood.1_Missense_Mutation_p.A280G|MTL5_uc009ysi.1_3'UTR	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	280					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)											0.059524	-8.171121	9.272862	5	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68506246	68506246	10329	11	G	C	C	C	546	42	MTL5	3	3
ZNF215	7762	broad.mit.edu	37	11	6964854	6964854	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6964854C>T	uc001mey.2	+	c.694C>T	c.(694-696)CCA>TCA	p.P232S	ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.P232S	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	232	KRAB.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)										0.038462	-37.4139	16.448587	9	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6964854	6964854	18362	11	C	T	T	T	234	18	ZNF215	2	2
DLG2	1740	broad.mit.edu	37	11	84245670	84245670	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:84245670G>A	uc001pak.2	-	c.462C>T	c.(460-462)CTC>CTT	p.L154L	DLG2_uc001paj.2_Silent_p.L49L|DLG2_uc010rsz.1_Silent_p.L49L|DLG2_uc010rta.1_Silent_p.L49L|DLG2_uc001pal.1_Silent_p.L49L	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	49						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.304	108.299931	112.586434	38	87	KEEP	---	---	---	---	capture		Silent	SNP	84245670	84245670	4735	11	G	A	A	A	418	33	DLG2	2	2
FAT3	120114	broad.mit.edu	37	11	92430609	92430609	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92430609G>T	uc001pdj.3	+	c.3667G>T	c.(3667-3669)GAG>TAG	p.E1223*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1223	Cadherin 11.|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)			0.367347	48.83456	49.593533	18	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	92430609	92430609	5927	11	G	T	T	T	533	41	FAT3	5	2
ERC1	23085	broad.mit.edu	37	12	1137369	1137369	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1137369C>T	uc001qjb.2	+	c.300C>T	c.(298-300)TAC>TAT	p.Y100Y	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Silent_p.Y100Y|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Silent_p.Y100Y	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	100					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(1)	3	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)						p.Y100Y(TE441.T-Tumor)	378				0.054348	-9.796142	9.464006	5	87	KEEP	---	---	---	---	capture		Silent	SNP	1137369	1137369	5403	12	C	T	T	T	246	19	ERC1	1	1
MED13L	23389	broad.mit.edu	37	12	116409904	116409904	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:116409904C>T	uc001tvw.2	-	c.5869G>A	c.(5869-5871)GGG>AGG	p.G1957R		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1957					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)						497				0.302326	36.378308	37.867257	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116409904	116409904	9820	12	C	T	T	T	286	22	MED13L	2	2
CIT	11113	broad.mit.edu	37	12	120306959	120306959	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120306959C>T	uc001txj.1	-	c.143G>A	c.(142-144)CGA>CAA	p.R48Q	CIT_uc001txi.1_Missense_Mutation_p.R48Q	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	48					intracellular signal transduction|protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)					p.R48Q(COLO829-Tumor)|p.R48Q(HS675.T-Tumor)	1263				0.060811	-12.631428	17.188433	9	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120306959	120306959	3573	12	C	T	T	T	403	31	CIT	1	1
NCOR2	9612	broad.mit.edu	37	12	124886969	124886969	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124886969C>T	uc010tay.1	-	c.1621G>A	c.(1621-1623)GAC>AAC	p.D541N	NCOR2_uc010taz.1_Missense_Mutation_p.D541N|NCOR2_uc010tba.1_Missense_Mutation_p.D541N|NCOR2_uc010tbb.1_Missense_Mutation_p.D541N|NCOR2_uc010tbc.1_Missense_Mutation_p.D540N|NCOR2_uc001ugj.1_Missense_Mutation_p.D541N	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	541	Potential.				cellular lipid metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity			ovary(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)										0.37931	31.421197	31.790479	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124886969	124886969	10635	12	C	T	T	T	403	31	NCOR2	1	1
PLCZ1	89869	broad.mit.edu	37	12	18854458	18854458	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18854458C>T	uc010sid.1	-	c.994G>A	c.(994-996)GTA>ATA	p.V332I	PLCZ1_uc001rdv.3_Missense_Mutation_p.V228I|PLCZ1_uc001rdw.3_Missense_Mutation_p.V73I|PLCZ1_uc001rdu.1_Missense_Mutation_p.V114I|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	332					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)													0.258065	20.684915	22.329544	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18854458	18854458	12470	12	C	T	T	T	260	20	PLCZ1	2	2
PDE3A	5139	broad.mit.edu	37	12	20769264	20769264	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20769264C>A	uc001reh.1	+	c.1370C>A	c.(1369-1371)CCA>CAA	p.P457Q		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	457					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)	3	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)									0.345455	55.230477	56.380125	19	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20769264	20769264	12058	12	C	A	A	A	273	21	PDE3A	2	2
SLCO1C1	53919	broad.mit.edu	37	12	20874977	20874977	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20874977G>T	uc010sii.1	+	c.1015G>T	c.(1015-1017)GCA>TCA	p.A339S	SLCO1C1_uc010sij.1_Missense_Mutation_p.A290S|SLCO1C1_uc001rej.3_Missense_Mutation_p.A339S|SLCO1C1_uc009zip.2_Missense_Mutation_p.A173S|SLCO1C1_uc001rei.2_Missense_Mutation_p.A339S|SLCO1C1_uc010sik.1_Missense_Mutation_p.A221S	NM_001145946	NP_001139418	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	339	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)	6	Esophageal squamous(101;0.149)													0.121951	6.048305	11.786132	5	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20874977	20874977	15222	12	G	T	T	T	546	42	SLCO1C1	2	2
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.375	8.122235	8.232254	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
FOXM1	2305	broad.mit.edu	37	12	2968006	2968006	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2968006A>G	uc001qle.2	-	c.2204T>C	c.(2203-2205)ATA>ACA	p.I735T	FOXM1_uc001qlf.2_Missense_Mutation_p.I697T|FOXM1_uc001qlg.2_Missense_Mutation_p.I682T|FOXM1_uc009zea.2_Missense_Mutation_p.I682T|FOXM1_uc009zeb.2_Missense_Mutation_p.I681T	NM_202002	NP_973731	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 1	697					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|pattern specification process|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor 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			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)											0.26087	17.051107	18.234	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2968006	2968006	6264	12	A	G	G	G	208	16	FOXM1	4	4
TMTC1	83857	broad.mit.edu	37	12	29908755	29908756	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29908755_29908756CA>AG	uc001rjb.2	-	c.293_294TG>CT	c.(292-294)CTG>CCT	p.L98P	TMTC1_uc001rjc.1_Missense_Mutation_p.L98P	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	98	Helical; (Potential).					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.315789	52.83091	54.550502	18	39	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	29908755	29908756	16801	12	CA	AG	AG	AG	314	25	TMTC1	2	2
TMTC1	83857	broad.mit.edu	37	12	29908795	29908795	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29908795C>A	uc001rjb.2	-	c.254G>T	c.(253-255)GGG>GTG	p.G85V	TMTC1_uc001rjc.1_Missense_Mutation_p.G85V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	85						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.352941	32.789179	33.437849	12	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29908795	29908795	16801	12	C	A	A	A	286	22	TMTC1	2	2
FAM60A	58516	broad.mit.edu	37	12	31435657	31435657	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31435657G>C	uc001rkc.2	-	c.730C>G	c.(730-732)CAG>GAG	p.Q244E	FAM60A_uc010sjz.1_Missense_Mutation_p.Q219E|FAM60A_uc001rkd.2_Missense_Mutation_p.Q219E|FAM60A_uc010ska.1_Missense_Mutation_p.Q219E|FAM60A_uc001rke.2_Missense_Mutation_p.Q219E|FAM60A_uc010skb.1_Non-coding_Transcript	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	219											0	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)													0.090909	2.56419	9.989107	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31435657	31435657	5818	12	G	C	C	C	585	45	FAM60A	3	3
DDX23	9416	broad.mit.edu	37	12	49226245	49226245	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49226245C>A	uc001rsm.2	-	c.1915G>T	c.(1915-1917)GTG>TTG	p.V639L		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	639					cis assembly of pre-catalytic spliceosome	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)	5														0.347826	47.28982	48.228311	16	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49226245	49226245	4521	12	C	A	A	A	221	17	DDX23	2	2
KRT7	3855	broad.mit.edu	37	12	52639315	52639315	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52639315G>T	uc001saa.1	+	c.1104G>T	c.(1102-1104)ATG>ATT	p.M368I	KRT7_uc009zmf.1_Intron	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	368	Rod.|Coil 2.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)										0.064516	-4.050418	8.172652	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52639315	52639315	8798	12	G	T	T	T	611	47	KRT7	2	2
KRT6B	3854	broad.mit.edu	37	12	52841155	52841155	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52841155C>A	uc001sak.2	-	c.1514G>T	c.(1513-1515)AGT>ATT	p.S505I		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	505	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)										0.514286	57.25466	57.261105	18	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52841155	52841155	8796	12	C	A	A	A	260	20	KRT6B	2	2
KRT8	3856	broad.mit.edu	37	12	53293728	53293728	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53293728G>A	uc009zmk.1	-	c.896C>T	c.(895-897)GCC>GTC	p.A299V	KRT8_uc001sbd.2_Missense_Mutation_p.A271V|KRT8_uc009zmj.2_Missense_Mutation_p.A271V|KRT8_uc009zml.1_Missense_Mutation_p.A271V|KRT8_uc009zmm.1_Missense_Mutation_p.A271V	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	271	Necessary for interaction with PNN.|Rod.|Coil 2.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.096774	1.401224	6.453429	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53293728	53293728	8808	12	G	A	A	A	546	42	KRT8	2	2
MMP19	4327	broad.mit.edu	37	12	56231768	56231768	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56231768A>G	uc001sib.2	-	c.919T>C	c.(919-921)TTC>CTC	p.F307L	MMP19_uc001sia.2_Missense_Mutation_p.F21L|MMP19_uc001sid.2_Non-coding_Transcript|MMP19_uc010spw.1_Missense_Mutation_p.F260S	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	307	Hemopexin-like 1.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1														0.09375	4.714904	15.319129	6	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56231768	56231768	10047	12	A	G	G	G	13	1	MMP19	4	4
R3HDM2	22864	broad.mit.edu	37	12	57648586	57648586	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57648586C>A	uc001snt.2	-	c.2943G>T	c.(2941-2943)CTG>CTT	p.L981L	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.L662L|R3HDM2_uc001snr.2_Silent_p.L694L|R3HDM2_uc009zpm.1_Silent_p.L967L|R3HDM2_uc001sns.2_Silent_p.L967L|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	967						nucleus	nucleic acid binding			ovary(1)	1														0.069767	-1.908364	6.309337	3	40	KEEP	---	---	---	---	capture		Silent	SNP	57648586	57648586	13347	12	C	A	A	A	366	29	R3HDM2	2	2
PTPRB	5787	broad.mit.edu	37	12	70963665	70963665	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70963665G>T	uc001swc.3	-	c.3424C>A	c.(3424-3426)CTG>ATG	p.L1142M	PTPRB_uc001swb.3_Missense_Mutation_p.L924M|PTPRB_uc010sto.1_Missense_Mutation_p.L924M|PTPRB_uc010stp.1_Missense_Mutation_p.L834M|PTPRB_uc001swa.3_Missense_Mutation_p.L1054M|PTPRB_uc001swd.3_Missense_Mutation_p.L1141M|PTPRB_uc009zrr.1_Missense_Mutation_p.L1021M	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	924	Fibronectin type-III 11.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.315789	51.929773	53.649987	18	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70963665	70963665	13253	12	G	T	T	T	451	35	PTPRB	2	2
LGR5	8549	broad.mit.edu	37	12	71946972	71946972	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71946972G>C	uc001swl.2	+	c.548G>C	c.(547-549)AGA>ACA	p.R183T	LGR5_uc001swm.2_Missense_Mutation_p.R183T|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	183	Extracellular (Potential).|LRR 5.					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.257576	44.641429	48.159316	17	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71946972	71946972	9083	12	G	C	C	C	429	33	LGR5	3	3
ALX1	8092	broad.mit.edu	37	12	85677553	85677553	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85677553C>A	uc001tae.3	+	c.430C>A	c.(430-432)CTA>ATA	p.L144I		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	144	Homeobox.				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)										0.26506	57.009928	61.152088	22	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85677553	85677553	559	12	C	A	A	A	363	28	ALX1	2	2
AICDA	57379	broad.mit.edu	37	12	8758007	8758007	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8758007G>T	uc001qur.2	-	c.231C>A	c.(229-231)CGC>CGA	p.R77R	AICDA_uc001qup.1_Silent_p.R72R|AICDA_uc001quq.1_Silent_p.R72R|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	77					B cell differentiation|mRNA processing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			pancreas(1)	1	Lung SC(5;0.184)					GBM(62;896 1067 5527 26594 30137)								0.32	42.881525	44.321378	16	34	KEEP	---	---	---	---	capture		Silent	SNP	8758007	8758007	425	12	G	T	T	T	483	38	AICDA	1	1
RASA3	22821	broad.mit.edu	37	13	114786894	114786894	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114786894G>C	uc001vui.2	-	c.771C>G	c.(769-771)AGC>AGG	p.S257R	RASA3_uc010tkk.1_Missense_Mutation_p.S225R|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_Non-coding_Transcript|RASA3_uc010aha.1_Non-coding_Transcript	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	257					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(1)|skin(1)	2	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)							4289				0.277778	14.567885	15.367213	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114786894	114786894	13522	13	G	C	C	C	438	34	RASA3	3	3
ATP8A2	51761	broad.mit.edu	37	13	26133194	26133194	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:26133194C>T	uc001uqk.2	+	c.1347C>T	c.(1345-1347)ACC>ACT	p.T449T	ATP8A2_uc010tdi.1_Silent_p.T409T|ATP8A2_uc010tdj.1_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.T409T	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	409	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.12766	10.015322	16.368373	6	41	KEEP	---	---	---	---	capture		Silent	SNP	26133194	26133194	1212	13	C	T	T	T	301	24	ATP8A2	2	2
MTUS2	23281	broad.mit.edu	37	13	29600343	29600343	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29600343C>A	uc001usl.3	+	c.1538C>A	c.(1537-1539)ACC>AAC	p.T513N		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	503						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.24	30.175422	33.260172	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29600343	29600343	10359	13	C	A	A	A	234	18	MTUS2	2	2
STARD13	90627	broad.mit.edu	37	13	33680999	33680999	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:33680999C>A	uc001uuw.2	-	c.3120G>T	c.(3118-3120)CAG>CAT	p.Q1040H	STARD13_uc001uuu.2_Missense_Mutation_p.Q1032H|STARD13_uc001uuv.2_Missense_Mutation_p.Q922H|STARD13_uc001uux.2_Missense_Mutation_p.Q1005H|STARD13_uc010tec.1_Non-coding_Transcript	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	1040	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)	3	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)										0.284615	96.303624	101.668762	37	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33680999	33680999	15775	13	C	A	A	A	363	28	STARD13	2	2
ZC3H13	23091	broad.mit.edu	37	13	46554009	46554009	+	Silent	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46554009T>A	uc010tfw.1	-	c.1851A>T	c.(1849-1851)GCA>GCT	p.A617A	ZC3H13_uc001vas.1_Silent_p.A617A|ZC3H13_uc001vat.1_Silent_p.A617A	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	617	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		Esophageal Squamous(187;747 2077 11056 31291 44172)								0.051546	-10.58589	10.042426	5	92	KEEP	---	---	---	---	capture		Silent	SNP	46554009	46554009	18153	13	T	A	A	A	808	63	ZC3H13	3	3
CPB2	1361	broad.mit.edu	37	13	46638834	46638834	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46638834G>C	uc001vaw.2	-	c.745C>G	c.(745-747)CAT>GAT	p.H249D	CPB2_uc001vax.2_Missense_Mutation_p.H212D	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	249					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)										0.418182	77.716715	78.037912	23	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46638834	46638834	3935	13	G	C	C	C	585	45	CPB2	3	3
KLHL1	57626	broad.mit.edu	37	13	70314562	70314562	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70314562G>A	uc001vip.2	-	c.1766C>T	c.(1765-1767)GCT>GTT	p.A589V	KLHL1_uc010thm.1_Missense_Mutation_p.A528V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	589	Kelch 3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.277778	12.365528	13.16659	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70314562	70314562	8677	13	G	A	A	A	442	34	KLHL1	2	2
SLITRK5	26050	broad.mit.edu	37	13	88330261	88330261	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:88330261G>A	uc001vln.2	+	c.2618G>A	c.(2617-2619)AGC>AAC	p.S873N	SLITRK5_uc010tic.1_Missense_Mutation_p.S632N	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	873	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.26087	15.940613	17.130414	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88330261	88330261	15244	13	G	A	A	A	442	34	SLITRK5	2	2
TDRD9	122402	broad.mit.edu	37	14	104441751	104441751	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:104441751G>A	uc001yom.3	+	c.872G>A	c.(871-873)AGC>AAC	p.S291N	TDRD9_uc001yon.3_Missense_Mutation_p.S29N	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	291	Helicase ATP-binding.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)												0.090909	2.198751	7.766396	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104441751	104441751	16263	14	G	A	A	A	442	34	TDRD9	2	2
AHNAK2	113146	broad.mit.edu	37	14	105410567	105410567	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105410567C>A	uc010axc.1	-	c.11221G>T	c.(11221-11223)GTG>TTG	p.V3741L	AHNAK2_uc001ypx.2_Missense_Mutation_p.V3641L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3741						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.30303	27.737884	28.880442	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105410567	105410567	418	14	C	A	A	A	234	18	AHNAK2	2	2
AHNAK2	113146	broad.mit.edu	37	14	105418993	105418993	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105418993T>C	uc010axc.1	-	c.2795A>G	c.(2794-2796)AAG>AGG	p.K932R	AHNAK2_uc001ypx.2_Missense_Mutation_p.K832R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	932						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.216216	21.282721	24.029361	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105418993	105418993	418	14	T	C	C	C	728	56	AHNAK2	4	4
OR4L1	122742	broad.mit.edu	37	14	20528951	20528951	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20528951T>C	uc001vwn.1	+	c.748T>C	c.(748-750)TTC>CTC	p.F250L		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)										0.22449	29.100159	32.517144	11	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20528951	20528951	11484	14	T	C	C	C	780	60	OR4L1	4	4
FSCB	84075	broad.mit.edu	37	14	44975097	44975098	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44975097_44975098GC>TT	uc001wvn.2	-	c.1093_1094GC>AA	c.(1093-1095)GCT>AAT	p.A365N		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	365	Pro-rich.					cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.22973	43.135345	48.09193	17	57	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	44975097	44975098	6316	14	GC	TT	TT	TT	442	34	FSCB	2	2
FSCB	84075	broad.mit.edu	37	14	44975184	44975184	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44975184G>A	uc001wvn.2	-	c.1007C>T	c.(1006-1008)CCA>CTA	p.P336L		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	336	Pro-rich.					cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.242424	42.160355	46.160048	16	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44975184	44975184	6316	14	G	A	A	A	611	47	FSCB	2	2
WDHD1	11169	broad.mit.edu	37	14	55434069	55434069	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55434069G>A	uc001xbm.1	-	c.2107C>T	c.(2107-2109)CGC>TGC	p.R703C	WDHD1_uc010aom.1_Missense_Mutation_p.R220C|WDHD1_uc001xbn.1_Missense_Mutation_p.R580C	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	703						cytoplasm|nucleoplasm	DNA binding				0										606				0.064935	-4.823163	10.260012	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55434069	55434069	17844	14	G	A	A	A	520	40	WDHD1	1	1
PELI2	57161	broad.mit.edu	37	14	56763840	56763840	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:56763840G>A	uc001xch.2	+	c.1219G>A	c.(1219-1221)GAG>AAG	p.E407K		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	407					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1														0.217391	11.662947	13.356472	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56763840	56763840	12143	14	G	A	A	A	533	41	PELI2	2	2
C14orf50	145376	broad.mit.edu	37	14	65056006	65056006	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65056006C>T	uc001xhl.1	+	c.1219C>T	c.(1219-1221)CTG>TTG	p.L407L	C14orf50_uc001xhm.1_Silent_p.L137L	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	407											0				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)										0.25	46.114369	50.205536	18	54	KEEP	---	---	---	---	capture		Silent	SNP	65056006	65056006	1827	14	C	T	T	T	259	20	C14orf50	2	2
GPHN	10243	broad.mit.edu	37	14	67646332	67646332	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:67646332A>G	uc010tss.1	+	c.2156A>G	c.(2155-2157)TAC>TGC	p.Y719C	GPHN_uc001xix.2_Missense_Mutation_p.Y706C|GPHN_uc001xiy.2_Missense_Mutation_p.Y673C|GPHN_uc010tst.1_Missense_Mutation_p.Y642C|GPHN_uc010tsu.1_Missense_Mutation_p.Y596C	NM_020806	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 1	673	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)						590				0.36	28.469051	28.90002	9	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67646332	67646332	6884	14	A	G	G	G	182	14	GPHN	4	4
NPC2	10577	broad.mit.edu	37	14	74947404	74947404	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74947404C>T	uc001xpy.2	-	c.441_splice	c.e4+1	p.I147_splice	NPC2_uc010tus.1_Intron	NM_006432	NP_006423			epididymal secretory protein E1 precursor						cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding				0				BRCA - Breast invasive adenocarcinoma(234;0.00149)		Pancreas(93;260 1497 8575 30964 48133)								0.046256	-60.375593	39.412627	21	433	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	74947404	74947404	10976	14	C	T	T	T	247	19	NPC2	5	1
ZC3H14	79882	broad.mit.edu	37	14	89029996	89029996	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:89029996G>C	uc001xww.2	+	c.38G>C	c.(37-39)AGT>ACT	p.S13T	ZC3H14_uc010twd.1_Missense_Mutation_p.S13T|ZC3H14_uc010twe.1_Missense_Mutation_p.S13T|ZC3H14_uc001xwx.2_Missense_Mutation_p.S13T|ZC3H14_uc010twf.1_5'UTR|ZC3H14_uc001xwy.2_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	13						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)	2														0.277778	45.502327	47.901076	15	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89029996	89029996	18154	14	G	C	C	C	468	36	ZC3H14	3	3
TDP1	55775	broad.mit.edu	37	14	90450944	90450944	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90450944C>A	uc001xxy.2	+	c.969C>A	c.(967-969)CTC>CTA	p.L323L	TDP1_uc010atm.2_Non-coding_Transcript|TDP1_uc001xxz.2_Silent_p.L323L|TDP1_uc010atn.2_Silent_p.L323L|TDP1_uc001xya.2_Silent_p.L84L|TDP1_uc001xyb.2_Non-coding_Transcript|TDP1_uc010ato.2_Silent_p.L323L|TDP1_uc001xyd.1_5'Flank	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	323					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)										0.336735	92.139241	94.452671	33	65	KEEP	---	---	---	---	capture		Silent	SNP	90450944	90450944	16254	14	C	A	A	A	366	29	TDP1	2	2
PPP4R4	57718	broad.mit.edu	37	14	94731783	94731783	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94731783G>T	uc001ycs.1	+	c.2257G>T	c.(2257-2259)GGA>TGA	p.G753*		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	753						cytoplasm|protein serine/threonine phosphatase complex	protein binding				0														0.2	11.160214	13.253272	5	20	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	94731783	94731783	12841	14	G	T	T	T	611	47	PPP4R4	5	2
GABRG3	2567	broad.mit.edu	37	15	27222232	27222232	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27222232A>T	uc001zbg.1	+	c.137A>T	c.(136-138)GAC>GTC	p.D46V	GABRG3_uc001zbf.2_Missense_Mutation_p.D46V	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	46	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		NSCLC(114;800 1656 7410 37729 45293)								0.283582	46.596741	49.415372	19	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27222232	27222232	6424	15	A	T	T	T	130	10	GABRG3	3	3
SPG11	80208	broad.mit.edu	37	15	44914426	44914426	+	Silent	SNP	T	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:44914426T>G	uc001ztx.2	-	c.2436A>C	c.(2434-2436)TCA>TCC	p.S812S	SPG11_uc010ueh.1_Silent_p.S812S|SPG11_uc010uei.1_Silent_p.S812S|SPG11_uc001ztz.1_5'Flank	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	812	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)	4		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)										0.125	5.877458	10.276048	4	28	KEEP	---	---	---	---	capture		Silent	SNP	44914426	44914426	15553	15	T	G	G	G	652	51	SPG11	4	4
SLC30A4	7782	broad.mit.edu	37	15	45814446	45814446	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45814446C>A	uc001zvj.2	-	c.107G>T	c.(106-108)GGG>GTG	p.G36V	C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter),	36	Cytoplasmic (Potential).|Asp-rich (acidic).				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity				0		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)						11				0.326087	37.753488	38.965562	15	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45814446	45814446	15054	15	C	A	A	A	286	22	SLC30A4	2	2
CGNL1	84952	broad.mit.edu	37	15	57816936	57816936	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:57816936A>T	uc002aeg.2	+	c.3026A>T	c.(3025-3027)AAA>ATA	p.K1009I	CGNL1_uc010bfw.2_Missense_Mutation_p.K1009I	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1009	Potential.					myosin complex|tight junction	motor activity			ovary(4)|central_nervous_system(1)	5				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)										0.326531	86.464468	89.081348	32	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57816936	57816936	3437	15	A	T	T	T	13	1	CGNL1	3	3
CCNB2	9133	broad.mit.edu	37	15	59408904	59408904	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:59408904C>T	uc002afz.2	+	c.613C>T	c.(613-615)CGG>TGG	p.R205W	CCNB2_uc010bge.2_Missense_Mutation_p.R124W	NM_004701	NP_004692	O95067	CCNB2_HUMAN	cyclin B2	205					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol|microtubule cytoskeleton|nucleus	protein binding				0														0.075758	-0.472751	11.699191	5	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59408904	59408904	3040	15	C	T	T	T	295	23	CCNB2	1	1
VPS13C	54832	broad.mit.edu	37	15	62276023	62276023	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:62276023T>A	uc002agz.2	-	c.1910A>T	c.(1909-1911)GAT>GTT	p.D637V	VPS13C_uc002aha.2_Missense_Mutation_p.D594V|VPS13C_uc002ahb.1_Missense_Mutation_p.D637V|VPS13C_uc002ahc.1_Missense_Mutation_p.D594V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	637					protein localization					ovary(2)	2														0.333333	43.410477	44.517267	15	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62276023	62276023	17758	15	T	A	A	A	650	50	VPS13C	3	3
UACA	55075	broad.mit.edu	37	15	70960708	70960708	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:70960708G>T	uc002asr.2	-	c.2315C>A	c.(2314-2316)ACA>AAA	p.T772K	UACA_uc010uke.1_Missense_Mutation_p.T663K|UACA_uc002asq.2_Missense_Mutation_p.T759K|UACA_uc010bin.1_Missense_Mutation_p.T747K	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	772	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)	3														0.25	23.664791	25.705214	9	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70960708	70960708	17381	15	G	T	T	T	624	48	UACA	2	2
KIF7	374654	broad.mit.edu	37	15	90188282	90188282	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90188282C>G	uc002bof.2	-	c.2153G>C	c.(2152-2154)CGC>CCC	p.R718P	KIF7_uc010upw.1_Missense_Mutation_p.R204P	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	718	Potential.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)											0.037559	-31.263684	18.015729	8	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90188282	90188282	8620	15	C	G	G	G	351	27	KIF7	3	3
IGF1R	3480	broad.mit.edu	37	15	99440124	99440124	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:99440124C>G	uc002bul.2	+	c.1092C>G	c.(1090-1092)ATC>ATG	p.I364M	IGF1R_uc010urq.1_Missense_Mutation_p.I364M|IGF1R_uc010bon.2_Missense_Mutation_p.I364M	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	364					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	integral to plasma membrane|microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.I364M(1)		lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)					471				0.28	37.529031	39.704942	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99440124	99440124	7872	15	C	G	G	G	382	30	IGF1R	3	3
NOMO1	23420	broad.mit.edu	37	16	14958479	14958479	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14958479C>T	uc002dcv.2	+	c.1433C>T	c.(1432-1434)ACG>ATG	p.T478M		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	478	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1														0.053763	-27.739994	30.802752	15	264	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14958479	14958479	10934	16	C	T	T	T	247	19	NOMO1	1	1
TMC5	79838	broad.mit.edu	37	16	19452068	19452068	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19452068C>T	uc002dgc.3	+	c.708C>T	c.(706-708)AGC>AGT	p.S236S	TMC5_uc010vaq.1_Silent_p.S236S|TMC5_uc002dgb.3_Silent_p.S236S|TMC5_uc010var.1_Silent_p.S236S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	236	Extracellular (Potential).					integral to membrane					0														0.060976	-7.195093	9.31771	5	77	KEEP	---	---	---	---	capture		Silent	SNP	19452068	19452068	16518	16	C	T	T	T	324	25	TMC5	2	2
C16orf62	57020	broad.mit.edu	37	16	19592895	19592895	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19592895C>T	uc002dgn.1	+	c.559C>T	c.(559-561)CGC>TGC	p.R187C	C16orf62_uc002dgo.1_Missense_Mutation_p.R187C|C16orf62_uc002dgp.1_5'UTR|C16orf62_uc010vas.1_Missense_Mutation_p.R61C|C16orf62_uc002dgm.1_Missense_Mutation_p.R187C	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	187						integral to membrane				ovary(1)	1														0.053435	-11.632965	15.886258	7	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19592895	19592895	1878	16	C	T	T	T	299	23	C16orf62	1	1
CDR2	1039	broad.mit.edu	37	16	22360698	22360698	+	Silent	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22360698C>G	uc002dkn.2	-	c.408G>C	c.(406-408)CTG>CTC	p.L136L		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	136	Potential.					nucleus	protein binding				0				GBM - Glioblastoma multiforme(48;0.0188)										0.090909	4.962341	17.958121	7	70	KEEP	---	---	---	---	capture		Silent	SNP	22360698	22360698	3301	16	C	G	G	G	366	29	CDR2	3	3
SRRM2	23524	broad.mit.edu	37	16	2815038	2815038	+	Silent	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2815038A>T	uc002crk.2	+	c.4509A>T	c.(4507-4509)CCA>CCT	p.P1503P	SRRM2_uc002crj.1_Silent_p.P1407P|SRRM2_uc002crl.1_Silent_p.P1503P|SRRM2_uc010bsu.1_Silent_p.P1407P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1503	Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.245455	353.051669	385.508243	135	415	KEEP	---	---	---	---	capture		Silent	SNP	2815038	2815038	15683	16	A	T	T	T	80	7	SRRM2	3	3
SALL1	6299	broad.mit.edu	37	16	51175927	51175927	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51175927T>A	uc010vgs.1	-	c.206A>T	c.(205-207)CAA>CTA	p.Q69L	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	69					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.351852	156.316757	159.456739	57	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51175927	51175927	14290	16	T	A	A	A	819	63	SALL1	3	3
FHOD1	29109	broad.mit.edu	37	16	67265199	67265199	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67265199C>T	uc002esl.2	-	c.2559G>A	c.(2557-2559)ACG>ACA	p.T853T	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Silent_p.T660T	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	853	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)										0.057971	-5.649089	8.482884	4	65	KEEP	---	---	---	---	capture		Silent	SNP	67265199	67265199	6120	16	C	T	T	T	288	23	FHOD1	1	1
SF3B3	23450	broad.mit.edu	37	16	70562833	70562833	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70562833C>T	uc002ezf.2	+	c.128C>T	c.(127-129)CCA>CTA	p.P43L	SNORD111B_uc010cfv.1_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	43					nuclear mRNA splicing, via spliceosome|protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)												0.333333	35.147281	36.114106	13	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70562833	70562833	14641	16	C	T	T	T	273	21	SF3B3	2	2
PMFBP1	83449	broad.mit.edu	37	16	72184620	72184620	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72184620C>G	uc002fcc.3	-	c.523G>C	c.(523-525)GAG>CAG	p.E175Q	PMFBP1_uc002fcd.2_Missense_Mutation_p.E175Q|PMFBP1_uc002fce.2_Non-coding_Transcript|PMFBP1_uc002fcf.2_Missense_Mutation_p.E30Q	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	175	Potential.									ovary(1)	1		Ovarian(137;0.179)												0.057692	-8.940728	12.414879	6	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72184620	72184620	12560	16	C	G	G	G	416	32	PMFBP1	3	3
CNTNAP4	85445	broad.mit.edu	37	16	76532538	76532538	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76532538G>T	uc002fex.1	+	c.2321G>T	c.(2320-2322)CGA>CTA	p.R774L	CNTNAP4_uc002feu.1_Missense_Mutation_p.R771L|CNTNAP4_uc002fev.1_Missense_Mutation_p.R635L|CNTNAP4_uc010chb.1_Missense_Mutation_p.R698L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	771	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.205882	15.109082	17.834505	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76532538	76532538	3787	16	G	T	T	T	481	37	CNTNAP4	1	1
MYH4	4622	broad.mit.edu	37	17	10366661	10366661	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10366661C>A	uc002gmn.2	-	c.799G>T	c.(799-801)GAA>TAA	p.E267*		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	267	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(10)|central_nervous_system(1)	11														0.34375	30.014342	30.704822	11	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10366661	10366661	10432	17	C	A	A	A	377	29	MYH4	5	2
MYH2	4620	broad.mit.edu	37	17	10428863	10428863	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10428863C>T	uc010coi.2	-	c.4442G>A	c.(4441-4443)CGT>CAT	p.R1481H	MYH2_uc002gmp.3_Missense_Mutation_p.R1481H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1481	Potential.				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														0.130435	3.710714	6.766075	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10428863	10428863	10430	17	C	T	T	T	247	19	MYH2	1	1
TTC19	54902	broad.mit.edu	37	17	15930734	15930734	+	Silent	SNP	A	G	G	rs77955179		TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:15930734A>G	uc002gph.1	+	c.1404A>G	c.(1402-1404)CAA>CAG	p.Q468Q	TTC19_uc010cox.1_Non-coding_Transcript|TTC19_uc002gpk.3_3'UTR|TTC19_uc002gpj.2_Silent_p.Q110Q	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	347	TPR 5.				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)										0.089744	5.463241	18.713733	7	71	KEEP	---	---	---	---	capture		Silent	SNP	15930734	15930734	17240	17	A	G	G	G	37	3	TTC19	4	4
TRPV2	51393	broad.mit.edu	37	17	16321143	16321143	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16321143T>A	uc002gpy.2	+	c.161T>A	c.(160-162)ATA>AAA	p.I54K	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	54	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)										0.285714	38.230964	40.249317	14	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16321143	16321143	17147	17	T	A	A	A	637	49	TRPV2	3	3
ZNF207	7756	broad.mit.edu	37	17	30677325	30677325	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30677325G>A	uc002hhj.3	+	c.21G>A	c.(19-21)AAG>AAA	p.K7K	ZNF207_uc002hhh.3_Silent_p.K7K|ZNF207_uc002hhi.3_Silent_p.K7K|ZNF207_uc010csz.2_5'UTR|ZNF207_uc002hhk.1_Silent_p.K7K	NM_001098507	NP_001091977	O43670	ZN207_HUMAN	zinc finger protein 207 isoform c	7					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)											0.112245	8.749551	23.320698	11	87	KEEP	---	---	---	---	capture		Silent	SNP	30677325	30677325	18356	17	G	A	A	A	438	34	ZNF207	2	2
MYO1D	4642	broad.mit.edu	37	17	31107615	31107615	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31107615C>A	uc002hho.1	-	c.283G>T	c.(283-285)GAC>TAC	p.D95Y	MYO1D_uc002hhp.1_Missense_Mutation_p.D95Y|MYO1D_uc010wcb.1_Missense_Mutation_p.D95Y	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	95	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)											0.196721	25.365257	30.592696	12	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31107615	31107615	10466	17	C	A	A	A	416	32	MYO1D	2	2
OR3A2	4995	broad.mit.edu	37	17	3181724	3181724	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3181724G>T	uc002fvg.2	-	c.506C>A	c.(505-507)ACT>AAT	p.T169N		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	169	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)								0.493827	244.389697	244.39516	80	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3181724	3181724	11444	17	G	T	T	T	468	36	OR3A2	2	2
OR3A3	8392	broad.mit.edu	37	17	3324477	3324477	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3324477C>A	uc010vrd.1	+	c.616C>A	c.(616-618)CTG>ATG	p.L206M		NM_012373	NP_036505	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.318841	59.923516	61.937159	22	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3324477	3324477	11445	17	C	A	A	A	363	28	OR3A3	2	2
KCNH4	23415	broad.mit.edu	37	17	40321497	40321497	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40321497C>A	uc002hzb.2	-	c.1588G>T	c.(1588-1590)GAG>TAG	p.E530*		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	530	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		NSCLC(117;707 1703 2300 21308 31858)								0.125	3.209205	6.507044	3	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40321497	40321497	8339	17	C	A	A	A	403	31	KCNH4	5	1
ITGA3	3675	broad.mit.edu	37	17	48153085	48153085	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48153085G>T	uc010dbm.2	+	c.1660G>T	c.(1660-1662)GAG>TAG	p.E554*	ITGA3_uc010dbl.2_Nonsense_Mutation_p.E554*	NM_005501	NP_005492	P26006	ITA3_HUMAN	integrin alpha 3 isoform b precursor	554	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3														0.361702	45.559328	46.351586	17	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48153085	48153085	8181	17	G	T	T	T	533	41	ITGA3	5	2
NUP88	4927	broad.mit.edu	37	17	5319963	5319963	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5319963G>C	uc010vsx.1	-	c.337C>G	c.(337-339)CAA>GAA	p.Q113E	NUP88_uc002gbo.1_Missense_Mutation_p.Q113E|NUP88_uc010cle.1_Missense_Mutation_p.Q113E|NUP88_uc010vsy.1_Missense_Mutation_p.Q113E|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	113					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1										6				0.214286	17.134304	19.244797	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5319963	5319963	11176	17	G	C	C	C	585	45	NUP88	3	3
ABCA9	10350	broad.mit.edu	37	17	66985229	66985229	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66985229C>A	uc002jhu.2	-	c.3986G>T	c.(3985-3987)GGA>GTA	p.G1329V	ABCA9_uc010dez.2_Missense_Mutation_p.G1291V	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1329	ABC transporter 2.|ATP 2 (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|central_nervous_system(1)	5	Breast(10;1.47e-12)													0.258824	53.809573	58.289362	22	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66985229	66985229	40	17	C	A	A	A	390	30	ABCA9	2	2
ABCA6	23460	broad.mit.edu	37	17	67129805	67129805	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67129805C>A	uc002jhw.1	-	c.768G>T	c.(766-768)ATG>ATT	p.M256I		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	256					transport	integral to membrane	ATP binding|ATPase activity			large_intestine(2)|ovary(2)	4	Breast(10;5.65e-12)													0.230769	14.234548	15.963503	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67129805	67129805	37	17	C	A	A	A	273	21	ABCA6	2	2
SEPT9	10801	broad.mit.edu	37	17	75398286	75398286	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:75398286G>T	uc002jts.3	+	c.222G>T	c.(220-222)TCG>TCT	p.S74S	SEPT9_uc010wtk.1_Silent_p.S55S|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Silent_p.S56S|SEPT9_uc002jtv.2_Silent_p.S67S|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	74					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.153)							329				0.235294	20.391639	22.564192	8	26	KEEP	---	---	---	---	capture		Silent	SNP	75398286	75398286	14557	17	G	T	T	T	496	39	SEPT9	1	1
CEP192	55125	broad.mit.edu	37	18	13059281	13059281	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13059281C>T	uc010xac.1	+	c.4458C>T	c.(4456-4458)CTC>CTT	p.L1486L	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.1_Silent_p.L1011L|CEP192_uc002kru.2_Non-coding_Transcript|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.L1227L	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1486										ovary(4)|pancreas(1)	5														0.337662	68.516693	70.315963	26	51	KEEP	---	---	---	---	capture		Silent	SNP	13059281	13059281	3384	18	C	T	T	T	366	29	CEP192	2	2
NPC1	4864	broad.mit.edu	37	18	21141409	21141409	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21141409G>A	uc002kum.3	-	c.546C>T	c.(544-546)GAC>GAT	p.D182D	NPC1_uc010xaz.1_5'Flank|NPC1_uc010xba.1_Silent_p.D27D	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	182					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)													0.052083	-21.247756	19.431523	10	182	KEEP	---	---	---	---	capture		Silent	SNP	21141409	21141409	10974	18	G	A	A	A	516	40	NPC1	1	1
ASXL3	80816	broad.mit.edu	37	18	31314310	31314310	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31314310A>T	uc010dmg.1	+	c.1013A>T	c.(1012-1014)CAA>CTA	p.Q338L	ASXL3_uc002kxq.2_Missense_Mutation_p.Q45L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.302326	37.259308	38.758933	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31314310	31314310	1087	18	A	T	T	T	65	5	ASXL3	3	3
MAPRE2	10982	broad.mit.edu	37	18	32682116	32682116	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:32682116C>T	uc002kyg.2	+	c.603C>T	c.(601-603)CCC>CCT	p.P201P	MAPRE2_uc010xcb.1_Silent_p.P158P|MAPRE2_uc010xcc.1_Silent_p.P189P|MAPRE2_uc002kyf.2_Silent_p.P201P|MAPRE2_uc002kyh.2_Silent_p.P148P|MAPRE2_uc010xcd.1_Silent_p.P158P	NM_014268	NP_055083	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family,	201	DCTN1-binding.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			ovary(1)	1														0.414634	51.667331	51.928297	17	24	KEEP	---	---	---	---	capture		Silent	SNP	32682116	32682116	9678	18	C	T	T	T	262	21	MAPRE2	2	2
DLGAP1	9229	broad.mit.edu	37	18	3879412	3879412	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:3879412C>A	uc002kmf.2	-	c.657G>T	c.(655-657)TCG>TCT	p.S219S	DLGAP1_uc010wyz.1_Silent_p.S219S|DLGAP1_uc002kmk.2_Silent_p.S219S	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	219					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)												0.266667	30.77427	32.993416	12	33	KEEP	---	---	---	---	capture		Silent	SNP	3879412	3879412	4739	18	C	A	A	A	288	23	DLGAP1	1	1
RIT2	6014	broad.mit.edu	37	18	40503566	40503566	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:40503566T>A	uc002lav.2	-	c.397A>T	c.(397-399)AAC>TAC	p.N133Y	RIT2_uc010dnf.2_Missense_Mutation_p.N133Y	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	133	GTP (By similarity).				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1														0.291262	76.224145	80.235837	30	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40503566	40503566	13864	18	T	A	A	A	793	61	RIT2	3	3
TCF4	6925	broad.mit.edu	37	18	52928766	52928766	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:52928766T>A	uc002lga.2	-	c.1229_splice	c.e13-1	p.A410_splice	TCF4_uc002lfw.3_Splice_Site_SNP_p.A148_splice|TCF4_uc010xdu.1_Splice_Site_SNP_p.A178_splice|TCF4_uc010xdv.1_Splice_Site_SNP_p.A178_splice|TCF4_uc002lfx.2_Splice_Site_SNP_p.A237_splice|TCF4_uc010xdw.1_Splice_Site_SNP_p.A178_splice|TCF4_uc002lfy.2_Splice_Site_SNP_p.A266_splice|TCF4_uc010xdx.1_Splice_Site_SNP_p.A284_splice|TCF4_uc002lfz.2_Splice_Site_SNP_p.A308_splice|TCF4_uc010dph.1_Splice_Site_SNP_p.A308_splice|TCF4_uc010xdy.1_Splice_Site_SNP_p.A284_splice|TCF4_uc002lgb.1_Splice_Site_SNP_p.A148_splice|TCF4_uc010dpi.2_Splice_Site_SNP_p.A314_splice|TCF4_uc002lfv.2_Splice_Site_SNP_p.A92_splice	NM_001083962	NP_001077431			transcription factor 4 isoform a						protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|transcription initiation factor activity			ovary(1)	1				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)										0.29	84.449458	88.392478	29	71	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	52928766	52928766	16221	18	T	A	A	A	715	55	TCF4	5	3
CDH7	1005	broad.mit.edu	37	18	63511157	63511157	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63511157T>A	uc002ljz.2	+	c.1091T>A	c.(1090-1092)GTG>GAG	p.V364E	CDH7_uc002lka.2_Missense_Mutation_p.V364E|CDH7_uc002lkb.2_Missense_Mutation_p.V364E	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	364	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.22	25.29887	28.909087	11	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63511157	63511157	3244	18	T	A	A	A	767	59	CDH7	3	3
LAMA1	284217	broad.mit.edu	37	18	7015845	7015845	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7015845G>T	uc002knm.2	-	c.3002C>A	c.(3001-3003)CCA>CAA	p.P1001Q	LAMA1_uc010wzj.1_Missense_Mutation_p.P477Q	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1001	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.235294	30.072935	33.341879	12	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7015845	7015845	8928	18	G	T	T	T	611	47	LAMA1	2	2
PTPRM	5797	broad.mit.edu	37	18	7888171	7888171	+	Silent	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7888171A>G	uc010dkv.2	+	c.264A>G	c.(262-264)CAA>CAG	p.Q88Q	PTPRM_uc002knn.3_Silent_p.Q88Q	NM_001105244	NP_001098714	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	88	MAM.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(1)|central_nervous_system(1)	5		Colorectal(10;0.234)												0.044643	-13.110065	11.716222	5	107	KEEP	---	---	---	---	capture		Silent	SNP	7888171	7888171	13263	18	A	G	G	G	24	2	PTPRM	4	4
KIAA0802	23255	broad.mit.edu	37	18	8798155	8798155	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:8798155G>A	uc002knr.2	+	c.2302G>A	c.(2302-2304)GCG>ACG	p.A768T	KIAA0802_uc002knq.2_Missense_Mutation_p.A727T|KIAA0802_uc002kns.2_Missense_Mutation_p.A98T	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	1078										ovary(6)|central_nervous_system(1)	7										468				0.227273	8.052991	9.569628	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8798155	8798155	8501	18	G	A	A	A	546	42	KIAA0802	2	2
KEAP1	9817	broad.mit.edu	37	19	10602596	10602596	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10602596T>A	uc002moq.1	-	c.982A>T	c.(982-984)ATC>TTC	p.I328F	KEAP1_uc002mop.1_Missense_Mutation_p.I46F|KEAP1_uc002mor.1_Missense_Mutation_p.I328F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	328	Kelch 1.				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)											0.5	8.424311	8.424311	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10602596	10602596	8447	19	T	A	A	A	650	50	KEAP1	3	3
ZNF20	7568	broad.mit.edu	37	19	12243846	12243846	+	Silent	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12243846A>G	uc002mtf.1	-	c.1155T>C	c.(1153-1155)CAT>CAC	p.H385H	ZNF20_uc002mte.1_Silent_p.H350H|ZNF20_uc002mtg.1_Silent_p.H385H	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	385	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.096774	1.801548	6.852894	3	28	KEEP	---	---	---	---	capture		Silent	SNP	12243846	12243846	18352	19	A	G	G	G	102	8	ZNF20	4	4
ZNF536	9745	broad.mit.edu	37	19	30934691	30934691	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30934691C>A	uc002nsu.1	+	c.222C>A	c.(220-222)GGC>GGA	p.G74G	ZNF536_uc010edd.1_Silent_p.G74G	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.5	23.397831	23.397831	8	8	KEEP	---	---	---	---	capture		Silent	SNP	30934691	30934691	18568	19	C	A	A	A	327	26	ZNF536	2	2
ZNF536	9745	broad.mit.edu	37	19	31040367	31040367	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31040367G>C	uc002nsu.1	+	c.3841G>C	c.(3841-3843)GGA>CGA	p.G1281R	ZNF536_uc010edd.1_Missense_Mutation_p.G1281R	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.5	13.500704	13.500704	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31040367	31040367	18568	19	G	C	C	C	507	39	ZNF536	3	3
GPATCH1	55094	broad.mit.edu	37	19	33587217	33587217	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33587217G>T	uc002nug.1	+	c.717G>T	c.(715-717)AAG>AAT	p.K239N		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	239					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	nucleic acid binding				0	Esophageal squamous(110;0.137)					Pancreas(67;88 1713 4567 18227)								0.245283	32.360286	35.48457	13	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33587217	33587217	6864	19	G	T	T	T	451	35	GPATCH1	2	2
ZNF599	148103	broad.mit.edu	37	19	35250996	35250996	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35250996C>T	uc010edn.1	-	c.710G>A	c.(709-711)CGT>CAT	p.R237H	ZNF599_uc010edm.1_Missense_Mutation_p.R200H	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	237	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)											0.039062	-19.833065	9.525295	5	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35250996	35250996	18624	19	C	T	T	T	247	19	ZNF599	1	1
FFAR3	2865	broad.mit.edu	37	19	35850556	35850556	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35850556C>A	uc002nzd.2	+	c.764C>A	c.(763-765)CCG>CAG	p.P255Q	FFAR3_uc010xsu.1_Intron	NM_005304	NP_005295	O14843	FFAR3_HUMAN	free fatty acid receptor 3	255	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding				0	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			Esophageal Squamous(185;1742 2042 21963 24215 27871)								0.13986	33.947066	51.830391	20	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35850556	35850556	6066	19	C	A	A	A	299	23	FFAR3	1	1
KIRREL2	84063	broad.mit.edu	37	19	36349405	36349405	+	Missense_Mutation	SNP	T	A	A	rs117351170	by1000genomes	TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36349405T>A	uc002ocb.3	+	c.307T>A	c.(307-309)TGT>AGT	p.C103S	KIRREL2_uc002obz.3_Missense_Mutation_p.C103S|KIRREL2_uc002oca.3_Missense_Mutation_p.C53S|KIRREL2_uc002occ.3_Missense_Mutation_p.C50S|KIRREL2_uc002ocd.3_Missense_Mutation_p.C100S	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	103	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.057971	-5.344214	8.780374	4	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36349405	36349405	8637	19	T	A	A	A	663	51	KIRREL2	3	3
ZNF585A	199704	broad.mit.edu	37	19	37643330	37643330	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37643330C>A	uc002ofo.1	-	c.1471G>T	c.(1471-1473)GAG>TAG	p.E491*	ZNF585A_uc002ofm.1_Nonsense_Mutation_p.E436*|ZNF585A_uc002ofn.1_Nonsense_Mutation_p.E436*	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.314607	70.170867	72.891282	28	61	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	37643330	37643330	18612	19	C	A	A	A	416	32	ZNF585A	5	2
ZNF585A	199704	broad.mit.edu	37	19	37646803	37646803	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37646803C>A	uc002ofo.1	-	c.256G>T	c.(256-258)GCA>TCA	p.A86S	ZNF585A_uc002ofm.1_Missense_Mutation_p.A31S|ZNF585A_uc002ofn.1_Missense_Mutation_p.A31S	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.27027	99.531347	106.580024	40	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37646803	37646803	18612	19	C	A	A	A	338	26	ZNF585A	2	2
ZNF570	148268	broad.mit.edu	37	19	37974825	37974825	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37974825G>A	uc010efl.1	+	c.469G>A	c.(469-471)GAT>AAT	p.D157N	ZNF570_uc002ogk.1_Missense_Mutation_p.D101N|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.365217	122.374754	124.189206	42	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37974825	37974825	18597	19	G	A	A	A	533	41	ZNF570	2	2
TEX101	83639	broad.mit.edu	37	19	43920394	43920394	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43920394G>T	uc002owk.2	+	c.262G>T	c.(262-264)GGG>TGG	p.G88W	TEX101_uc010xwo.1_Missense_Mutation_p.G70W	NM_031451	NP_113639	Q9BY14	TX101_HUMAN	testis expressed 101 isoform 1	70						anchored to membrane|plasma membrane				ovary(1)	1		Prostate(69;0.0199)												0.263158	52.464582	56.320694	20	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43920394	43920394	16300	19	G	T	T	T	455	35	TEX101	2	2
PPM1N	147699	broad.mit.edu	37	19	46002480	46002480	+	Silent	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46002480C>G	uc002pce.2	+	c.750C>G	c.(748-750)CTC>CTG	p.L250L	RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	protein phosphatase 1B-like	250	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity				0														0.384615	32.546788	32.849198	10	16	KEEP	---	---	---	---	capture		Silent	SNP	46002480	46002480	12781	19	C	G	G	G	392	31	PPM1N	3	3
PPFIA3	8541	broad.mit.edu	37	19	49641551	49641551	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49641551G>A	uc002pmr.2	+	c.1943G>A	c.(1942-1944)CGC>CAC	p.R648H	PPFIA3_uc010yai.1_Intron|PPFIA3_uc010yaj.1_Intron|PPFIA3_uc002pms.2_Missense_Mutation_p.R516H	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	648						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)										0.1875	5.820334	7.280015	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49641551	49641551	12741	19	G	A	A	A	494	38	PPFIA3	1	1
ALDH16A1	126133	broad.mit.edu	37	19	49972188	49972188	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49972188G>A	uc002pnt.2	+	c.2192G>A	c.(2191-2193)CGC>CAC	p.R731H	ALDH16A1_uc010yar.1_Missense_Mutation_p.R680H|ALDH16A1_uc010yas.1_Missense_Mutation_p.R566H|ALDH16A1_uc010yat.1_Missense_Mutation_p.R568H	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	731					oxidation-reduction process		oxidoreductase activity|protein binding				0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)										0.148936	9.990867	15.557209	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49972188	49972188	491	19	G	A	A	A	494	38	ALDH16A1	1	1
LIM2	3982	broad.mit.edu	37	19	51890651	51890651	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51890651G>C	uc002pwl.2	-	c.47C>G	c.(46-48)ACC>AGC	p.T16S	LIM2_uc002pwm.2_Missense_Mutation_p.T16S	NM_030657	NP_085915	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa isoform	16	Helical; (Potential).				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens				0		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)										0.428571	18.752522	18.813641	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51890651	51890651	9121	19	G	C	C	C	572	44	LIM2	3	3
BIRC8	112401	broad.mit.edu	37	19	53793596	53793596	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53793596A>G	uc002qbk.2	-	c.32T>C	c.(31-33)TTT>TCT	p.F11S		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	11	BIR.				apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)										0.315789	18.543559	19.116793	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53793596	53793596	1465	19	A	G	G	G	13	1	BIRC8	4	4
PRKCG	5582	broad.mit.edu	37	19	54385787	54385787	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54385787G>T	uc010yeg.1	+	c.39G>T	c.(37-39)GGG>GGT	p.G13G	PRKCG_uc010eqz.1_Silent_p.G13G|PRKCG_uc010yef.1_Silent_p.G13G|PRKCG_uc002qcq.1_Silent_p.G13G|PRKCG_uc010yeh.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	13					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|protein phosphorylation|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)						505				0.404762	94.005273	94.617823	34	50	KEEP	---	---	---	---	capture		Silent	SNP	54385787	54385787	12955	19	G	T	T	T	548	43	PRKCG	2	2
NLRP5	126206	broad.mit.edu	37	19	56538701	56538701	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56538701G>T	uc002qmj.2	+	c.1102G>T	c.(1102-1104)GGC>TGC	p.G368C	NLRP5_uc002qmi.2_Missense_Mutation_p.G349C	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	368	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)										0.583333	20.925882	20.998712	7	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56538701	56538701	10883	19	G	T	T	T	559	43	NLRP5	2	2
MTOR	2475	broad.mit.edu	37	1	11307989	11307989	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11307989C>T	uc001asd.2	-	c.1003G>A	c.(1003-1005)GGG>AGG	p.G335R		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	335					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|ovary(4)|kidney(3)|large_intestine(2)|skin(2)|lung(1)	19										1389				0.246377	41.734115	45.78371	17	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11307989	11307989	10347	1	C	T	T	T	286	22	MTOR	2	2
HAO2	51179	broad.mit.edu	37	1	119927521	119927521	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119927521C>A	uc001ehq.1	+	c.406C>A	c.(406-408)CAG>AAG	p.Q136K	HAO2_uc001ehr.1_Missense_Mutation_p.Q136K	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	136	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(1)	1	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)										0.537313	112.806619	112.888347	36	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119927521	119927521	7234	1	C	A	A	A	325	25	HAO2	2	2
PHGDH	26227	broad.mit.edu	37	1	120279825	120279825	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120279825G>A	uc001ehz.2	+	c.881G>A	c.(880-882)CGC>CAC	p.R294H	PHGDH_uc009whm.2_Missense_Mutation_p.R192H|PHGDH_uc001eia.2_Missense_Mutation_p.R294H|PHGDH_uc009whn.2_Missense_Mutation_p.R294H|PHGDH_uc001eib.2_Missense_Mutation_p.R260H	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	294					brain development|L-serine biosynthetic process|oxidation-reduction process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)									0.173913	7.815008	10.100875	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120279825	120279825	12264	1	G	A	A	A	494	38	PHGDH	1	1
ADAM30	11085	broad.mit.edu	37	1	120437439	120437439	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120437439G>A	uc001eij.2	-	c.1521C>T	c.(1519-1521)TGC>TGT	p.C507C		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	507	Cys-rich.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)										0.517241	43.318197	43.325422	15	14	KEEP	---	---	---	---	capture		Silent	SNP	120437439	120437439	249	1	G	A	A	A	542	42	ADAM30	2	2
TXNIP	10628	broad.mit.edu	37	1	145440739	145440739	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145440739C>T	uc001enn.3	+	c.939C>T	c.(937-939)ACC>ACT	p.T313T	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.T258T	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	313					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.219298	117.127984	133.678292	50	178	KEEP	---	---	---	---	capture		Silent	SNP	145440739	145440739	17359	1	C	T	T	T	262	21	TXNIP	2	2
GJA8	2703	broad.mit.edu	37	1	147380507	147380507	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:147380507G>T	uc001epu.1	+	c.425G>T	c.(424-426)CGG>CTG	p.R142L		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	142	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)	5	all_hematologic(923;0.0276)					Melanoma(76;1255 1795 8195 52096)								0.173333	26.440731	33.988603	13	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147380507	147380507	6673	1	G	T	T	T	507	39	GJA8	1	1
NTRK1	4914	broad.mit.edu	37	1	156834171	156834171	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156834171C>T	uc001fqh.1	+	c.238C>T	c.(238-240)CAG>TAG	p.Q80*	NTRK1_uc001fqf.1_Nonsense_Mutation_p.Q50*|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Nonsense_Mutation_p.Q80*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.Q80*	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	80	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	p.Q80*(1)		lung(8)|ovary(6)|stomach(1)|central_nervous_system(1)	16	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)					290	TSP Lung(10;0.080)			0.412698	74.440744	74.859296	26	37	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	156834171	156834171	11111	1	C	T	T	T	325	25	NTRK1	5	2
FCRL1	115350	broad.mit.edu	37	1	157773808	157773808	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157773808T>C	uc001frg.2	-	c.146A>G	c.(145-147)CAG>CGG	p.Q49R	FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.Q49R|FCRL1_uc001fri.2_Missense_Mutation_p.Q49R|FCRL1_uc001frj.2_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	49	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			ovary(3)	3	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GBM(54;482 1003 11223 30131 35730)								0.448276	114.588118	114.792871	39	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157773808	157773808	6031	1	T	C	C	C	715	55	FCRL1	4	4
CD5L	922	broad.mit.edu	37	1	157805856	157805856	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157805856A>T	uc001frk.3	-	c.145T>A	c.(145-147)TGT>AGT	p.C49S		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	49	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.183333	23.495971	29.138605	11	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157805856	157805856	3155	1	A	T	T	T	78	6	CD5L	3	3
PYHIN1	149628	broad.mit.edu	37	1	158913621	158913621	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158913621T>A	uc001ftb.2	+	c.1044T>A	c.(1042-1044)GAT>GAA	p.D348E	PYHIN1_uc001ftc.2_Missense_Mutation_p.D339E|PYHIN1_uc001ftd.2_Missense_Mutation_p.D348E|PYHIN1_uc001fte.2_Missense_Mutation_p.D339E	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	348	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.186047	16.473183	20.448226	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158913621	158913621	13323	1	T	A	A	A	634	49	PYHIN1	3	3
C1orf110	339512	broad.mit.edu	37	1	162824962	162824962	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162824962C>A	uc001gck.2	-	c.502G>T	c.(502-504)GAC>TAC	p.D168Y	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.D167Y	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	hypothetical protein LOC339512	168											0														0.757732	908.65346	932.127709	294	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162824962	162824962	2050	1	C	A	A	A	390	30	C1orf110	2	2
GPA33	10223	broad.mit.edu	37	1	167059522	167059522	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167059522C>A	uc001gea.1	-	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	1						integral to plasma membrane	receptor activity				0														0.604396	178.537648	179.404334	55	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167059522	167059522	6860	1	C	A	A	A	273	21	GPA33	2	2
F5	2153	broad.mit.edu	37	1	169487795	169487795	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169487795G>T	uc001ggg.1	-	c.6200C>A	c.(6199-6201)TCC>TAC	p.S2067Y		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	2067	F5/8 type C 2.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.621622	69.929456	70.408648	23	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169487795	169487795	5542	1	G	T	T	T	533	41	F5	2	2
TNN	63923	broad.mit.edu	37	1	175092665	175092665	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175092665G>C	uc001gkl.1	+	c.2780G>C	c.(2779-2781)AGG>ACG	p.R927T		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	927	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.192727	108.424987	132.666179	53	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175092665	175092665	16864	1	G	C	C	C	455	35	TNN	3	3
TDRD5	163589	broad.mit.edu	37	1	179609087	179609087	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179609087T>A	uc010pnp.1	+	c.1634T>A	c.(1633-1635)GTC>GAC	p.V545D	TDRD5_uc001gnf.1_Missense_Mutation_p.V545D|TDRD5_uc001gnh.1_Missense_Mutation_p.V100D	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	545	Tudor.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.526946	265.490686	265.595551	88	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179609087	179609087	16260	1	T	A	A	A	754	58	TDRD5	3	3
HMCN1	83872	broad.mit.edu	37	1	186045751	186045751	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186045751C>T	uc001grq.1	+	c.8482C>T	c.(8482-8484)CCA>TCA	p.P2828S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2828	Ig-like C2-type 26.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.072727	-1.174627	9.091542	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186045751	186045751	7511	1	C	T	T	T	338	26	HMCN1	2	2
HMCN1	83872	broad.mit.edu	37	1	186072648	186072648	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186072648G>A	uc001grq.1	+	c.10618G>A	c.(10618-10620)GTA>ATA	p.V3540I		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3540	Ig-like C2-type 34.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.061224	-2.816999	7.031927	3	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186072648	186072648	7511	1	G	A	A	A	468	36	HMCN1	2	2
KCNT2	343450	broad.mit.edu	37	1	196397241	196397241	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196397241C>A	uc001gtd.1	-	c.978G>T	c.(976-978)AGG>AGT	p.R326S	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R326S|KCNT2_uc001gtf.1_Missense_Mutation_p.R326S|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.R326S|KCNT2_uc009wyv.1_Missense_Mutation_p.R301S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	326	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.137931	6.1794	9.856979	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196397241	196397241	8397	1	C	A	A	A	337	26	KCNT2	2	2
CRB1	23418	broad.mit.edu	37	1	197390775	197390775	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197390775G>A	uc001gtz.2	+	c.1817G>A	c.(1816-1818)TGT>TAT	p.C606Y	CRB1_uc010poz.1_Missense_Mutation_p.C537Y|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.C494Y|CRB1_uc010ppb.1_Missense_Mutation_p.C606Y|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.C87Y|CRB1_uc001gub.1_Missense_Mutation_p.C255Y	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	606	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.68	215.22562	218.101561	68	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197390775	197390775	3987	1	G	A	A	A	624	48	CRB1	2	2
CR2	1380	broad.mit.edu	37	1	207639899	207639899	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207639899C>A	uc001hfv.2	+	c.87C>A	c.(85-87)ATC>ATA	p.I29I	CR2_uc001hfw.2_Silent_p.I29I|CR2_uc009xch.2_Silent_p.I29I	NM_001006658	NP_001006659	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	29	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(1)|urinary_tract(1)|ovary(1)	3														0.217687	68.71621	79.522486	32	115	KEEP	---	---	---	---	capture		Silent	SNP	207639899	207639899	3981	1	C	A	A	A	382	30	CR2	2	2
CAMK1G	57172	broad.mit.edu	37	1	209785514	209785514	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209785514C>T	uc001hhd.2	+	c.1293C>T	c.(1291-1293)TCC>TCT	p.S431S	CAMK1G_uc001hhf.3_Silent_p.S431S|CAMK1G_uc001hhe.2_Silent_p.S431S	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	431						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		Ovarian(163;530 1939 9680 28669 48710)				224				0.038462	-19.634166	10.28842	5	125	KEEP	---	---	---	---	capture		Silent	SNP	209785514	209785514	2715	1	C	T	T	T	301	24	CAMK1G	2	2
KCNH1	3756	broad.mit.edu	37	1	211256134	211256134	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:211256134G>A	uc001hib.2	-	c.546C>T	c.(544-546)TCC>TCT	p.S182S	KCNH1_uc001hic.2_Silent_p.S182S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	182	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)										0.678261	261.812904	265.098443	78	37	KEEP	---	---	---	---	capture		Silent	SNP	211256134	211256134	8336	1	G	A	A	A	548	43	KCNH1	2	2
EIF4G3	8672	broad.mit.edu	37	1	21205910	21205910	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21205910C>A	uc001bef.2	-	c.2468G>T	c.(2467-2469)CGG>CTG	p.R823L	EIF4G3_uc010odi.1_Missense_Mutation_p.R391L|EIF4G3_uc010odj.1_Missense_Mutation_p.R786L|EIF4G3_uc009vpz.2_Missense_Mutation_p.R507L|EIF4G3_uc001bec.2_Missense_Mutation_p.R787L|EIF4G3_uc001bed.2_Missense_Mutation_p.R787L|EIF4G3_uc001bee.2_Missense_Mutation_p.R793L	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	787	eIF3/EIF4A-binding (By similarity).|MIF4G.|HEAT 2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity				0		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)										0.298969	159.69883	166.692341	58	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21205910	21205910	5229	1	C	A	A	A	299	23	EIF4G3	1	1
RYR2	6262	broad.mit.edu	37	1	237753238	237753238	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237753238C>A	uc001hyl.1	+	c.3744C>A	c.(3742-3744)ACC>ACA	p.T1248T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1248	Cytoplasmic (By similarity).|4 X approximate repeats.				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)											0.548387	53.774872	53.837714	17	14	KEEP	---	---	---	---	capture		Silent	SNP	237753238	237753238	14249	1	C	A	A	A	262	21	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237961378	237961378	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237961378C>T	uc001hyl.1	+	c.13998C>T	c.(13996-13998)ATC>ATT	p.I4666I	RYR2_uc010pyb.1_Silent_p.I99I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4666					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)											0.111111	4.373116	9.756313	4	32	KEEP	---	---	---	---	capture		Silent	SNP	237961378	237961378	14249	1	C	T	T	T	369	29	RYR2	2	2
OR1C1	26188	broad.mit.edu	37	1	247920989	247920989	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247920989G>T	uc010pza.1	-	c.720C>A	c.(718-720)ACC>ACA	p.T240T		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.193548	23.864284	29.30312	12	50	KEEP	---	---	---	---	capture		Silent	SNP	247920989	247920989	11358	1	G	T	T	T	444	35	OR1C1	2	2
AHDC1	27245	broad.mit.edu	37	1	27874050	27874050	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27874050C>T	uc009vsy.2	-	c.4577G>A	c.(4576-4578)GGC>GAC	p.G1526D	AHDC1_uc009vsz.1_Missense_Mutation_p.G1526D	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1526							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)										1	14.768017	14.707341	4	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27874050	27874050	415	1	C	T	T	T	338	26	AHDC1	2	2
YTHDF2	51441	broad.mit.edu	37	1	29070254	29070254	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29070254G>T	uc001brc.2	+	c.1472G>T	c.(1471-1473)TGG>TTG	p.W491L	YTHDF2_uc001brd.2_Missense_Mutation_p.W488L|YTHDF2_uc010ofx.1_Missense_Mutation_p.W441L|YTHDF2_uc001bre.2_Missense_Mutation_p.W441L	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	491	YTH.				humoral immune response					ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)										0.294118	38.782084	40.732892	15	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29070254	29070254	18082	1	G	T	T	T	611	47	YTHDF2	2	2
RNF19B	127544	broad.mit.edu	37	1	33415229	33415229	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33415229G>C	uc010oho.1	-	c.782C>G	c.(781-783)ACT>AGT	p.T261S	RNF19B_uc001bwm.3_Missense_Mutation_p.T261S|RNF19B_uc010ohp.1_Missense_Mutation_p.T261S	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	261						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)												0.057143	-5.455199	8.955518	4	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33415229	33415229	13949	1	G	C	C	C	468	36	RNF19B	3	3
CSMD2	114784	broad.mit.edu	37	1	33985175	33985175	+	Silent	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33985175T>A	uc001bxm.1	-	c.10839A>T	c.(10837-10839)ACA>ACT	p.T3613T	CSMD2_uc001bxn.1_Silent_p.T3469T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3469	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.344828	148.695444	151.783613	50	95	KEEP	---	---	---	---	capture		Silent	SNP	33985175	33985175	4086	1	T	A	A	A	704	55	CSMD2	3	3
THRAP3	9967	broad.mit.edu	37	1	36748273	36748273	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36748273C>G	uc001cae.3	+	c.109C>G	c.(109-111)CTC>GTC	p.L37V	THRAP3_uc001caf.3_Missense_Mutation_p.L37V|THRAP3_uc001cag.1_Missense_Mutation_p.L37V	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	37	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(5)|lung(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				Pancreas(129;785 1795 20938 23278 32581)				199				0.340426	50.485682	51.543528	16	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36748273	36748273	16402	1	C	G	G	G	416	32	THRAP3	3	3
THRAP3	9967	broad.mit.edu	37	1	36752695	36752695	+	Silent	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36752695G>C	uc001cae.3	+	c.864G>C	c.(862-864)CCG>CCC	p.P288P	THRAP3_uc001caf.3_Silent_p.P288P|THRAP3_uc001cag.1_Silent_p.P288P	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	288	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(5)|lung(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				Pancreas(129;785 1795 20938 23278 32581)				199				0.252427	71.40342	77.134997	26	77	KEEP	---	---	---	---	capture		Silent	SNP	36752695	36752695	16402	1	G	C	C	C	470	37	THRAP3	3	3
INPP5B	3633	broad.mit.edu	37	1	38341323	38341323	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38341323C>T	uc001ccg.1	-	c.1743G>A	c.(1741-1743)AAG>AAA	p.K581K	INPP5B_uc009vvk.1_Silent_p.K522K|INPP5B_uc001ccf.1_Silent_p.K417K|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	661					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.384615	26.92819	27.236409	10	16	KEEP	---	---	---	---	capture		Silent	SNP	38341323	38341323	8056	1	C	T	T	T	415	32	INPP5B	2	2
LRP8	7804	broad.mit.edu	37	1	53736899	53736900	+	Missense_Mutation	DNP	CG	AA	AA			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:53736899_53736900CG>AA	uc001cvi.1	-	c.1125_1126CG>TT	c.(1123-1128)GGCGAC>GGTTAC	p.D376Y	LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Missense_Mutation_p.D206Y|LRP8_uc001cvj.1_Missense_Mutation_p.D376Y|LRP8_uc001cvl.1_Missense_Mutation_p.D247Y|LRP8_uc001cvm.1_5'Flank	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	376	EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola|integral to membrane	apolipoprotein E binding|calcium ion binding|very-low-density lipoprotein particle receptor activity				0														0.296296	43.081363	45.083992	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	53736899	53736900	9336	1	CG	AA	AA	AA	299	23	LRP8	1	1
ACOT11	26027	broad.mit.edu	37	1	55059696	55059696	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55059696G>T	uc001cxm.1	+	c.455G>T	c.(454-456)CGC>CTC	p.R152L	ACOT11_uc001cxj.1_Missense_Mutation_p.R30L|ACOT11_uc001cxk.2_Missense_Mutation_p.R118L|ACOT11_uc001cxl.1_Missense_Mutation_p.R152L	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	152	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold	cytoplasm	acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						Ovarian(148;1440 1861 22015 32453 51933)								0.346939	47.561606	48.574291	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55059696	55059696	150	1	G	T	T	T	494	38	ACOT11	1	1
DNAJC6	9829	broad.mit.edu	37	1	65871552	65871552	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65871552G>T	uc001dce.1	+	c.2228_splice	c.e16-1	p.G743_splice	DNAJC6_uc001dcd.1_Splice_Site_SNP_p.G686_splice|DNAJC6_uc010opc.1_Splice_Site_SNP_p.G673_splice	NM_014787	NP_055602			DnaJ (Hsp40) homolog, subfamily C, member 6						cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3														0.310345	24.362904	25.292869	9	20	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	65871552	65871552	4836	1	G	T	T	T	455	35	DNAJC6	5	2
C1orf173	127254	broad.mit.edu	37	1	75037193	75037193	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75037193C>A	uc001dgg.2	-	c.4201G>T	c.(4201-4203)GGG>TGG	p.G1401W		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1401	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.490741	165.069209	165.077324	53	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75037193	75037193	2081	1	C	A	A	A	312	24	C1orf173	2	2
GBP4	115361	broad.mit.edu	37	1	89658674	89658674	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89658674C>G	uc001dnb.2	-	c.583G>C	c.(583-585)GTT>CTT	p.V195L		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	195						cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)										0.4375	73.369946	73.533167	21	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89658674	89658674	6542	1	C	G	G	G	221	17	GBP4	3	3
OTOR	56914	broad.mit.edu	37	20	16729156	16729156	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:16729156G>T	uc002wpj.2	+	c.110G>T	c.(109-111)TGT>TTT	p.C37F	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	37					sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2														0.274809	97.641007	103.625566	36	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16729156	16729156	11720	20	G	T	T	T	624	48	OTOR	2	2
HCK	3055	broad.mit.edu	37	20	30662513	30662513	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30662513G>T	uc002wxh.2	+	c.417G>T	c.(415-417)CTG>CTT	p.L139L	HCK_uc010gdy.2_Silent_p.L118L|HCK_uc002wxi.2_Silent_p.L117L	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	139					interspecies interaction between organisms|mesoderm development|protein phosphorylation|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)							262				0.232558	25.327985	28.143971	10	33	KEEP	---	---	---	---	capture		Silent	SNP	30662513	30662513	7276	20	G	T	T	T	600	47	HCK	2	2
ZHX3	23051	broad.mit.edu	37	20	39831710	39831710	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39831710T>C	uc010ggg.1	-	c.1847A>G	c.(1846-1848)TAC>TGC	p.Y616C	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.Y616C|ZHX3_uc002xjs.1_Missense_Mutation_p.Y616C|ZHX3_uc002xjt.1_Missense_Mutation_p.Y616C|ZHX3_uc002xju.1_Missense_Mutation_p.Y616C|ZHX3_uc002xjv.1_Missense_Mutation_p.Y616C|ZHX3_uc002xjw.1_Missense_Mutation_p.Y616C	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	616	Homeobox 3.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		Myeloproliferative disorder(115;0.00425)												0.117647	8.331791	15.644777	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39831710	39831710	18268	20	T	C	C	C	741	57	ZHX3	4	4
NCOA3	8202	broad.mit.edu	37	20	46264353	46264353	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:46264353C>A	uc002xtk.2	+	c.1400C>A	c.(1399-1401)CCA>CAA	p.P467Q	NCOA3_uc010ght.1_Missense_Mutation_p.P477Q|NCOA3_uc002xtl.2_Missense_Mutation_p.P467Q|NCOA3_uc002xtm.2_Missense_Mutation_p.P467Q|NCOA3_uc002xtn.2_Missense_Mutation_p.P467Q|NCOA3_uc010zyc.1_Missense_Mutation_p.P262Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	467					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding|transcription regulator activity			ovary(3)|lung(1)|skin(1)	5									p.P467Q(KMS20-Tumor)	361				0.089552	1.599426	12.995985	6	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46264353	46264353	10629	20	C	A	A	A	273	21	NCOA3	2	2
MOCS3	27304	broad.mit.edu	37	20	49576528	49576528	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49576528G>A	uc002xvy.1	+	c.1149G>A	c.(1147-1149)GCG>GCA	p.A383A	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	383	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			ovary(1)|skin(1)	2														0.064935	-6.867886	23.404686	10	144	KEEP	---	---	---	---	capture		Silent	SNP	49576528	49576528	10083	20	G	A	A	A	496	39	MOCS3	1	1
MOCS3	27304	broad.mit.edu	37	20	49576693	49576693	+	Silent	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49576693A>T	uc002xvy.1	+	c.1314A>T	c.(1312-1314)ACA>ACT	p.T438T	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	438	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			ovary(1)|skin(1)	2														0.305085	50.728257	52.727552	18	41	KEEP	---	---	---	---	capture		Silent	SNP	49576693	49576693	10083	20	A	T	T	T	80	7	MOCS3	3	3
BCAS1	8537	broad.mit.edu	37	20	52601943	52601943	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52601943T>A	uc002xws.2	-	c.1023A>T	c.(1021-1023)AAA>AAT	p.K341N	BCAS1_uc010zza.1_Missense_Mutation_p.K99N|BCAS1_uc010zzb.1_Missense_Mutation_p.K289N|BCAS1_uc010gim.2_Missense_Mutation_p.K289N|BCAS1_uc002xwt.2_Missense_Mutation_p.K341N|BCAS1_uc010gil.1_Missense_Mutation_p.K341N	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	341						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)											0.247126	101.629178	111.76516	43	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52601943	52601943	1371	20	T	A	A	A	725	56	BCAS1	3	3
ZNF831	128611	broad.mit.edu	37	20	57769437	57769437	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57769437C>T	uc002yan.2	+	c.3363C>T	c.(3361-3363)GGC>GGT	p.G1121G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1121						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.190476	6.787314	8.669545	4	17	KEEP	---	---	---	---	capture		Silent	SNP	57769437	57769437	18784	20	C	T	T	T	327	26	ZNF831	2	2
DIDO1	11083	broad.mit.edu	37	20	61511020	61511020	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61511020T>G	uc002ydr.1	-	c.6288A>C	c.(6286-6288)AAA>AAC	p.K2096N	DIDO1_uc002yds.1_Missense_Mutation_p.K2096N	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2096					apoptosis	cytoplasm|nucleus	zinc ion binding			ovary(3)	3	Breast(26;5.68e-08)					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)								0.5	12.770074	12.770074	5	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61511020	61511020	4701	20	T	G	G	G	725	56	DIDO1	4	4
ADAMTS5	11096	broad.mit.edu	37	21	28304421	28304421	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28304421C>T	uc002ymg.2	-	c.1951G>A	c.(1951-1953)GAA>AAA	p.E651K		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	651	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.267857	39.202407	41.92563	15	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28304421	28304421	270	21	C	T	T	T	390	30	ADAMTS5	2	2
BRWD1	54014	broad.mit.edu	37	21	40569063	40569063	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:40569063C>A	uc002yxk.1	-	c.5932G>T	c.(5932-5934)GAT>TAT	p.D1978Y	BRWD1_uc010goc.1_Missense_Mutation_p.D621Y|BRWD1_uc002yxl.2_Missense_Mutation_p.D1978Y	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1978					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				Melanoma(170;988 1986 4794 16843 39731)								0.346154	48.022319	49.114332	18	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40569063	40569063	1556	21	C	A	A	A	377	29	BRWD1	2	2
UMODL1	89766	broad.mit.edu	37	21	43524055	43524055	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43524055G>T	uc002zag.1	+	c.1377G>T	c.(1375-1377)CAG>CAT	p.Q459H	UMODL1_uc002zad.1_Missense_Mutation_p.Q387H|UMODL1_uc002zae.1_Missense_Mutation_p.Q387H|UMODL1_uc002zaf.1_Missense_Mutation_p.Q459H|UMODL1_uc010gow.1_Missense_Mutation_p.Q251H|UMODL1_uc002zai.1_Missense_Mutation_p.Q110H|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.Q110H|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.Q204H|C21orf128_uc002zak.2_Missense_Mutation_p.L60M	NM_173568	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 2 precursor	459	Extracellular (Potential).|SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)	2						Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)								0.333333	33.487987	34.373616	12	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43524055	43524055	17538	21	G	T	T	T	451	35	UMODL1	2	2
CCT8L2	150160	broad.mit.edu	37	22	17072667	17072667	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17072667C>A	uc002zlp.1	-	c.774G>T	c.(772-774)ACG>ACT	p.T258T		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	258					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.25	26.237183	28.505337	10	30	KEEP	---	---	---	---	capture		Silent	SNP	17072667	17072667	3088	22	C	A	A	A	288	23	CCT8L2	1	1
ZNF280A	129025	broad.mit.edu	37	22	22869426	22869426	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22869426C>G	uc002zwe.2	-	c.529G>C	c.(529-531)GAT>CAT	p.D177H	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)										0.259843	95.815185	102.448375	33	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22869426	22869426	18406	22	C	G	G	G	416	32	ZNF280A	3	3
MYO18B	84700	broad.mit.edu	37	22	26239765	26239765	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26239765G>A	uc003abz.1	+	c.3272G>A	c.(3271-3273)TGG>TAG	p.W1091*	MYO18B_uc003aca.1_Nonsense_Mutation_p.W972*|MYO18B_uc010guy.1_Nonsense_Mutation_p.W973*|MYO18B_uc010guz.1_Nonsense_Mutation_p.W972*|MYO18B_uc011aka.1_Nonsense_Mutation_p.W245*|MYO18B_uc011akb.1_Nonsense_Mutation_p.W604*	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1091	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.213115	32.342286	36.980194	13	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	26239765	26239765	10461	22	G	A	A	A	611	47	MYO18B	5	2
HPS4	89781	broad.mit.edu	37	22	26859981	26859982	+	Missense_Mutation	DNP	CG	AA	AA	rs116241923	by1000genomes	TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26859981_26859982CG>AA	uc003acl.2	-	c.1614_1615CG>TT	c.(1612-1617)CTCGTG>CTTTTG	p.V539L	HPS4_uc003aci.2_Missense_Mutation_p.V534L|HPS4_uc003acj.2_Missense_Mutation_p.V403L|HPS4_uc003ack.2_Missense_Mutation_p.V330L|HPS4_uc003acn.2_Missense_Mutation_p.V385L|HPS4_uc010gvd.1_Missense_Mutation_p.V557L|HPS4_uc003ach.2_Missense_Mutation_p.V274L	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	539					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0														0.363636	49.303187	50.016603	16	28	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	26859981	26859982	7633	22	CG	AA	AA	AA	247	19	HPS4	1	1
NPTXR	23467	broad.mit.edu	37	22	39222545	39222545	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39222545T>A	uc003awk.2	-	c.1058A>T	c.(1057-1059)GAG>GTG	p.E353V		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	353	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					Pancreas(139;2521 3281 36965)								0.413043	49.793225	50.101568	19	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39222545	39222545	11009	22	T	A	A	A	702	54	NPTXR	3	3
GTSE1	51512	broad.mit.edu	37	22	46719141	46719141	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46719141C>T	uc011aqy.1	+	c.1487C>T	c.(1486-1488)TCG>TTG	p.S496L	GTSE1_uc011aqz.1_Missense_Mutation_p.S343L|GTSE1_uc003bhl.1_Missense_Mutation_p.S121L|GTSE1_uc003bhm.1_Missense_Mutation_p.S121L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	477					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GBM(153;542 1915 12487 29016 50495)			p.S477L(HCC1954-Tumor)|p.S477L(SW1353-Tumor)|p.S477L(PECAPJ34CLONEC12-Tumor)|p.S477L(SIGM5-Tumor)	471				0.04065	-17.584713	10.312694	5	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46719141	46719141	7165	22	C	T	T	T	403	31	GTSE1	1	1
POU3F3	5455	broad.mit.edu	37	2	105472929	105472929	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:105472929G>T	uc010ywg.1	+	c.961G>T	c.(961-963)GAC>TAC	p.D321Y		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	321	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|transcription activator activity|transcription repressor activity			ovary(1)	1														0.305556	31.019507	32.229044	11	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105472929	105472929	12706	2	G	T	T	T	481	37	POU3F3	1	1
GCC2	9648	broad.mit.edu	37	2	109085455	109085455	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:109085455A>G	uc002tec.2	+	c.236A>G	c.(235-237)GAT>GGT	p.D79G	GCC2_uc002ted.2_5'UTR	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	79					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1														0.071429	-1.043984	9.553063	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109085455	109085455	6552	2	A	G	G	G	156	12	GCC2	4	4
UGGT1	56886	broad.mit.edu	37	2	128870689	128870689	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128870689A>T	uc002tps.2	+	c.553A>T	c.(553-555)AGA>TGA	p.R185*	UGGT1_uc010fme.1_Nonsense_Mutation_p.R60*|UGGT1_uc002tpr.2_Nonsense_Mutation_p.R161*	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	185					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1														0.290323	25.662815	26.883809	9	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	128870689	128870689	17499	2	A	T	T	T	88	7	UGGT1	5	3
UGGT1	56886	broad.mit.edu	37	2	128947302	128947302	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128947302C>T	uc002tps.2	+	c.4654C>T	c.(4654-4656)CGT>TGT	p.R1552C	UGGT1_uc002tpr.2_Missense_Mutation_p.R1528C	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1552	Glucosyltransferase (By similarity).|Prevents secretion from ER (Potential).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1														0.233333	18.21301	20.163236	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128947302	128947302	17499	2	C	T	T	T	247	19	UGGT1	1	1
MBD5	55777	broad.mit.edu	37	2	149247917	149247917	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:149247917C>T	uc002twm.3	+	c.4017C>T	c.(4015-4017)GAC>GAT	p.D1339D	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.D1339D|MBD5_uc002two.2_Silent_p.D597D|MBD5_uc002twp.2_Silent_p.D389D	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1339						chromosome|nucleus	chromatin binding|DNA binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0569)										0.341463	41.43867	42.348765	14	27	KEEP	---	---	---	---	capture		Silent	SNP	149247917	149247917	9735	2	C	T	T	T	259	20	MBD5	2	2
EPC2	26122	broad.mit.edu	37	2	149542538	149542538	+	Silent	SNP	T	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:149542538T>G	uc010zbt.1	+	c.2319T>G	c.(2317-2319)GTT>GTG	p.V773V		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	773					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)										0.333333	16.743173	17.186399	6	12	KEEP	---	---	---	---	capture		Silent	SNP	149542538	149542538	5354	2	T	G	G	G	782	61	EPC2	4	4
CYTIP	9595	broad.mit.edu	37	2	158283863	158283863	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:158283863C>A	uc002tzj.1	-	c.546G>T	c.(544-546)AAG>AAT	p.K182N	CYTIP_uc010zcl.1_Missense_Mutation_p.K76N	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	182	Interaction with CYTH1.|Potential.				regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)	2														0.266667	10.402615	11.134345	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158283863	158283863	4372	2	C	A	A	A	311	24	CYTIP	2	2
MARCH7	64844	broad.mit.edu	37	2	160604494	160604494	+	Silent	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160604494A>G	uc002uax.2	+	c.693A>G	c.(691-693)TCA>TCG	p.S231S	MARCH7_uc010foq.2_Silent_p.S231S|MARCH7_uc010zcn.1_Silent_p.S175S|MARCH7_uc010for.2_Silent_p.S193S|MARCH7_uc002uay.2_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	231	Ser-rich.						ligase activity|zinc ion binding				0														0.078947	0.894655	7.774439	3	35	KEEP	---	---	---	---	capture		Silent	SNP	160604494	160604494	9689	2	A	G	G	G	80	7	MARCH7	4	4
HOXD12	3238	broad.mit.edu	37	2	176964979	176964979	+	Silent	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176964979G>C	uc010zev.1	+	c.450G>C	c.(448-450)ACG>ACC	p.T150T	HOXD12_uc010zew.1_Silent_p.T150T	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	150					regulation of transcription, DNA-dependent	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)										0.55	37.828712	37.872588	11	9	KEEP	---	---	---	---	capture		Silent	SNP	176964979	176964979	7613	2	G	C	C	C	470	37	HOXD12	3	3
TTN	7273	broad.mit.edu	37	2	179406246	179406246	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179406246A>T	uc010zfg.1	-	c.89854T>A	c.(89854-89856)TGG>AGG	p.W29952R	TTN_uc010zfh.1_Missense_Mutation_p.W23647R|TTN_uc010zfi.1_Missense_Mutation_p.W23580R|TTN_uc010zfj.1_Missense_Mutation_p.W23455R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3090										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				0.558824	59.827843	59.930245	19	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179406246	179406246	17290	2	A	T	T	T	65	5	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179490092	179490092	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179490092G>C	uc010zfg.1	-	c.36752C>G	c.(36751-36753)ACA>AGA	p.T12251R	TTN_uc010zfh.1_Missense_Mutation_p.T5946R|TTN_uc010zfi.1_Missense_Mutation_p.T5879R|TTN_uc010zfj.1_Missense_Mutation_p.T5754R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2588										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				0.241935	44.496499	48.259956	15	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179490092	179490092	17290	2	G	C	C	C	624	48	TTN	3	3
SSFA2	6744	broad.mit.edu	37	2	182781062	182781062	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182781062C>G	uc002uoi.2	+	c.2695C>G	c.(2695-2697)CGA>GGA	p.R899G	SSFA2_uc002uoh.2_Missense_Mutation_p.R899G|SSFA2_uc002uoj.2_Missense_Mutation_p.R899G|SSFA2_uc002uok.2_Non-coding_Transcript|SSFA2_uc010zfo.1_Missense_Mutation_p.R746G|SSFA2_uc002uol.2_Missense_Mutation_p.R746G|SSFA2_uc002uom.2_Missense_Mutation_p.R367G	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	899						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)											0.181818	38.930677	48.318044	18	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182781062	182781062	15699	2	C	G	G	G	295	23	SSFA2	3	3
CRYGB	1419	broad.mit.edu	37	2	209010586	209010586	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209010586T>A	uc002vcp.3	-	c.164A>T	c.(163-165)CAG>CTG	p.Q55L		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	55	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)										0.322581	30.440865	31.306384	10	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209010586	209010586	4054	2	T	A	A	A	715	55	CRYGB	3	3
OTOS	150677	broad.mit.edu	37	2	241078680	241078680	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241078680G>T	uc002vyv.2	-	c.177C>A	c.(175-177)GCC>GCA	p.A59A	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	otospiralin precursor	59						extracellular region					0		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)										0.410959	87.653346	88.153731	30	43	KEEP	---	---	---	---	capture		Silent	SNP	241078680	241078680	11721	2	G	T	T	T	444	35	OTOS	2	2
FOSL2	2355	broad.mit.edu	37	2	28635045	28635045	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28635045G>A	uc002rma.2	+	c.711G>A	c.(709-711)GGG>GGA	p.G237G	FOSL2_uc010ymi.1_Silent_p.G198G	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	237					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)													0.125	3.121474	7.486958	4	28	KEEP	---	---	---	---	capture		Silent	SNP	28635045	28635045	6230	2	G	A	A	A	535	42	FOSL2	2	2
SLC3A1	6519	broad.mit.edu	37	2	44507912	44507912	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44507912C>A	uc002ruc.3	+	c.488C>A	c.(487-489)ACT>AAT	p.T163N	SLC3A1_uc002rty.2_Missense_Mutation_p.T163N|SLC3A1_uc002rtz.2_Missense_Mutation_p.T163N|SLC3A1_uc002rua.2_Missense_Mutation_p.T163N|SLC3A1_uc002rub.2_Missense_Mutation_p.T163N	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	163	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)									0.307692	34.500614	35.777924	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44507912	44507912	15123	2	C	A	A	A	260	20	SLC3A1	2	2
KIAA1407	57577	broad.mit.edu	37	3	113697048	113697048	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113697048G>A	uc003eax.2	-	c.2591C>T	c.(2590-2592)GCG>GTG	p.A864V	KIAA1407_uc011bin.1_Non-coding_Transcript	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	864										ovary(2)	2														0.121622	11.026204	21.403481	9	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113697048	113697048	8538	3	G	A	A	A	494	38	KIAA1407	1	1
STXBP5L	9515	broad.mit.edu	37	3	120998717	120998717	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120998717G>T	uc003eec.3	+	c.2024G>T	c.(2023-2025)AGC>ATC	p.S675I	STXBP5L_uc011bji.1_Missense_Mutation_p.S675I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	675	WD 10.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.5	33.22368	33.22368	11	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120998717	120998717	15877	3	G	T	T	T	442	34	STXBP5L	2	2
MCM2	4171	broad.mit.edu	37	3	127339645	127339645	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:127339645C>T	uc003ejp.2	+	c.2370C>T	c.(2368-2370)GAC>GAT	p.D790D	MCM2_uc011bkm.1_Silent_p.D660D|MCM2_uc010hsl.2_Non-coding_Transcript|MCM2_uc011bkn.1_Silent_p.D743D	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	790					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4														0.075472	-1.532219	8.255113	4	49	KEEP	---	---	---	---	capture		Silent	SNP	127339645	127339645	9775	3	C	T	T	T	246	19	MCM2	1	1
MRAS	22808	broad.mit.edu	37	3	138119381	138119381	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138119381G>A	uc003esh.3	+	c.453G>A	c.(451-453)CCG>CCA	p.P151P	MRAS_uc011bmi.1_Silent_p.P75P|MRAS_uc003esi.3_Silent_p.P151P|MRAS_uc011bmj.1_Silent_p.P75P	NM_012219	NP_036351	O14807	RASM_HUMAN	muscle RAS oncogene homolog precursor	151					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3														0.067568	-8.053096	20.590478	10	138	KEEP	---	---	---	---	capture		Silent	SNP	138119381	138119381	10147	3	G	A	A	A	509	40	MRAS	1	1
FGD5	152273	broad.mit.edu	37	3	14964666	14964666	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14964666C>A	uc003bzc.2	+	c.3921C>A	c.(3919-3921)GTC>GTA	p.V1307V	FGD5_uc011avk.1_Silent_p.V1307V|FGD5_uc003bzd.2_Silent_p.V385V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1307					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.444444	11.799126	11.823258	4	5	KEEP	---	---	---	---	capture		Silent	SNP	14964666	14964666	6073	3	C	A	A	A	379	30	FGD5	2	2
GALNTL2	117248	broad.mit.edu	37	3	16237376	16237376	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:16237376A>G	uc003car.3	+	c.649A>G	c.(649-651)ACA>GCA	p.T217A	GALNTL2_uc003caq.3_5'UTR	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	217	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1														0.48	32.20118	32.209417	12	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16237376	16237376	6486	3	A	G	G	G	78	6	GALNTL2	4	4
SI	6476	broad.mit.edu	37	3	164781289	164781289	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164781289C>G	uc003fei.2	-	c.848G>C	c.(847-849)TGT>TCT	p.C283S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	283	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.25	12.092217	13.00112	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164781289	164781289	14792	3	C	G	G	G	221	17	SI	3	3
BCHE	590	broad.mit.edu	37	3	165548032	165548032	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:165548032G>C	uc003fem.3	-	c.790C>G	c.(790-792)CTT>GTT	p.L264V	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	264					acetylcholine catabolic process|choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)									0.405405	49.318224	49.607575	15	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165548032	165548032	1379	3	G	C	C	C	429	33	BCHE	3	3
ADIPOQ	9370	broad.mit.edu	37	3	186572035	186572036	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186572035_186572036GG>TT	uc003fra.2	+	c.277_278GG>TT	c.(277-279)GGC>TTC	p.G93F	ADIPOQ_uc010hyy.2_Missense_Mutation_p.G93F	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	adiponectin precursor	93	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)										0.333333	66.478022	68.24826	24	48	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	186572035	186572036	318	3	GG	TT	TT	TT	455	35	ADIPOQ	2	2
LMLN	89782	broad.mit.edu	37	3	197712706	197712706	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:197712706G>T	uc010iar.2	+	c.874G>T	c.(874-876)GAT>TAT	p.D292Y	LMLN_uc003fyt.2_Missense_Mutation_p.D240Y|LMLN_uc010ias.2_Missense_Mutation_p.D240Y|LMLN_uc011buo.1_Missense_Mutation_p.D292Y|LMLN_uc003fyu.2_Missense_Mutation_p.D52Y	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 1	292					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)										0.722222	125.140211	127.536553	39	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197712706	197712706	9176	3	G	T	T	T	429	33	LMLN	2	2
SUSD5	26032	broad.mit.edu	37	3	33194834	33194834	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33194834G>T	uc003cfo.1	-	c.1290C>A	c.(1288-1290)GGC>GGA	p.G430G		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	430	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2														0.15	9.425824	14.122693	6	34	KEEP	---	---	---	---	capture		Silent	SNP	33194834	33194834	15931	3	G	T	T	T	587	46	SUSD5	2	2
XIRP1	165904	broad.mit.edu	37	3	39227957	39227957	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39227957G>T	uc003cjk.1	-	c.2980C>A	c.(2980-2982)CCT>ACT	p.P994T	XIRP1_uc003cji.2_Missense_Mutation_p.P994T|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	994							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)										0.5	43.810803	43.810803	16	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39227957	39227957	18010	3	G	T	T	T	559	43	XIRP1	2	2
LRIG1	26018	broad.mit.edu	37	3	66436685	66436685	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:66436685G>T	uc003dmx.2	-	c.1509C>A	c.(1507-1509)ACC>ACA	p.T503T	SLC25A26_uc011bft.1_Non-coding_Transcript|LRIG1_uc011bfu.1_Silent_p.T123T|LRIG1_uc003dmw.2_Silent_p.T169T|LRIG1_uc010hnz.2_Silent_p.T219T|LRIG1_uc010hoa.2_Silent_p.T527T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	503	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane				ovary(2)|skin(1)	3		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)										0.09	3.356277	20.268401	9	91	KEEP	---	---	---	---	capture		Silent	SNP	66436685	66436685	9317	3	G	T	T	T	600	47	LRIG1	2	2
CRYBG3	131544	broad.mit.edu	37	3	97617768	97617768	+	Silent	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97617768A>G	uc003drx.2	+	c.1899A>G	c.(1897-1899)CTA>CTG	p.L633L		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0														0.7	25.72924	26.086757	7	3	KEEP	---	---	---	---	capture		Silent	SNP	97617768	97617768	4052	3	A	G	G	G	184	15	CRYBG3	4	4
TACR3	6870	broad.mit.edu	37	4	104510918	104510918	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104510918G>T	uc003hxe.1	-	c.1319C>A	c.(1318-1320)TCT>TAT	p.S440Y		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	440	Cytoplasmic (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)										0.372093	43.889735	44.507277	16	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104510918	104510918	16028	4	G	T	T	T	429	33	TACR3	2	2
GRIA2	2891	broad.mit.edu	37	4	158257526	158257527	+	Splice_Site_DNP	DNP	CA	AT	AT			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158257526_158257527CA>AT	uc003ipm.3	+	c.1474_splice	c.e11-2	p.K492_splice	GRIA2_uc011cit.1_Splice_Site_DNP_p.K445_splice|GRIA2_uc003ipl.3_Splice_Site_DNP_p.K492_splice|GRIA2_uc003ipk.3_Splice_Site_DNP_p.K445_splice|GRIA2_uc010iqh.1_Splice_Site_DNP	NM_001083619	NP_001077088			glutamate receptor, ionotropic, AMPA 2 isoform 2						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.232558	25.52797	28.344002	10	33	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	158257526	158257527	7046	4	CA	AT	AT	AT	209	17	GRIA2	5	2
FAM198B	51313	broad.mit.edu	37	4	159091677	159091677	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159091677C>A	uc003ipq.3	-	c.851G>T	c.(850-852)AGG>ATG	p.R284M	FAM198B_uc003ipp.3_Missense_Mutation_p.R284M|FAM198B_uc003ipr.3_Missense_Mutation_p.R284M|FAM198B_uc003ips.2_Missense_Mutation_p.R284M	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 1	284	Extracellular (Potential).					Golgi membrane|integral to membrane					0												OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.344828	55.980427	57.214685	20	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159091677	159091677	5743	4	C	A	A	A	312	24	FAM198B	2	2
WDR17	116966	broad.mit.edu	37	4	177049933	177049933	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177049933A>T	uc003iuj.2	+	c.907A>T	c.(907-909)ACA>TCA	p.T303S	WDR17_uc003iuk.2_Missense_Mutation_p.T279S|WDR17_uc003ium.3_Missense_Mutation_p.T279S|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	303	WD 5.									ovary(2)|pancreas(1)	3		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)										0.461538	17.648074	17.664869	6	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177049933	177049933	17850	4	A	T	T	T	26	2	WDR17	3	3
VEGFC	7424	broad.mit.edu	37	4	177608492	177608492	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177608492G>T	uc003ius.1	-	c.994C>A	c.(994-996)CGA>AGA	p.R332R		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	332	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|3.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(2)	2		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)						148				0.290698	69.857718	73.222778	25	61	KEEP	---	---	---	---	capture		Silent	SNP	177608492	177608492	17719	4	G	T	T	T	506	39	VEGFC	1	1
VEGFC	7424	broad.mit.edu	37	4	177608587	177608587	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177608587C>A	uc003ius.1	-	c.899G>T	c.(898-900)CGG>CTG	p.R300L		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	300	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.R300L(1)		lung(2)	2		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)						148				0.157895	11.73239	15.967597	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177608587	177608587	17719	4	C	A	A	A	299	23	VEGFC	1	1
C4orf14	84273	broad.mit.edu	37	4	57832821	57832821	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57832821G>A	uc003hck.2	-	c.1729C>T	c.(1729-1731)CTG>TTG	p.L577L		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	577							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)													0.368421	84.55782	85.722535	28	48	KEEP	---	---	---	---	capture		Silent	SNP	57832821	57832821	2346	4	G	A	A	A	425	33	C4orf14	2	2
GC	2638	broad.mit.edu	37	4	72623860	72623860	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:72623860G>T	uc010iif.2	-	c.787C>A	c.(787-789)CCT>ACT	p.P263T	GC_uc003hgd.2_Missense_Mutation_p.P122T|GC_uc010iie.2_Missense_Mutation_p.P244T|GC_uc003hge.2_Missense_Mutation_p.P244T	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	244	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)	2		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)									0.283333	41.936283	44.477045	17	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72623860	72623860	6548	4	G	T	T	T	546	42	GC	2	2
ZNF595	152687	broad.mit.edu	37	4	85696	85696	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85696A>C	uc003fzv.1	+	c.301A>C	c.(301-303)AAA>CAA	p.K101Q	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	101					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)										0.065934	-3.021556	14.763783	6	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85696	85696	18620	4	A	C	C	C	117	9	ZNF595	4	4
UNC5C	8633	broad.mit.edu	37	4	96171636	96171636	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96171636A>T	uc003htp.1	-	c.775_splice	c.e5+1	p.V259_splice	UNC5C_uc010ilc.1_Splice_Site_SNP_p.V259_splice|UNC5C_uc003htq.2_Splice_Site_SNP_p.V259_splice	NM_003728	NP_003719			unc5C precursor						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)										0.363636	60.387061	61.286039	20	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	96171636	96171636	17551	4	A	T	T	T	78	6	UNC5C	5	3
PPIC	5480	broad.mit.edu	37	5	122359589	122359589	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:122359589A>G	uc003kth.2	-	c.620T>C	c.(619-621)GTT>GCT	p.V207A		NM_000943	NP_000934	P45877	PPIC_HUMAN	peptidylprolyl isomerase C	207					protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			ovary(1)	1		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	Ovarian(99;690 1502 20765 45543 49568)								0.039062	-18.334619	11.021566	5	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122359589	122359589	12755	5	A	G	G	G	26	2	PPIC	4	4
LRRTM2	26045	broad.mit.edu	37	5	138209593	138209593	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:138209593C>G	uc011cyz.1	-	c.657G>C	c.(655-657)AAG>AAC	p.K219N	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Missense_Mutation_p.K85N|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	219	Extracellular (Potential).|LRR 7.					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											0.333333	271.454512	278.099431	90	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138209593	138209593	9416	5	C	G	G	G	415	32	LRRTM2	3	3
LRRTM2	26045	broad.mit.edu	37	5	138209614	138209614	+	Silent	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:138209614T>C	uc011cyz.1	-	c.636A>G	c.(634-636)CTA>CTG	p.L212L	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Silent_p.L78L|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	212	Extracellular (Potential).|LRR 7.					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											0.321429	253.792981	260.926634	81	171	KEEP	---	---	---	---	capture		Silent	SNP	138209614	138209614	9416	5	T	C	C	C	678	53	LRRTM2	4	4
PCDHA4	56144	broad.mit.edu	37	5	140188732	140188732	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140188732C>A	uc003lhi.2	+	c.1960C>A	c.(1960-1962)CAC>AAC	p.H654N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.H654N|PCDHA4_uc011daa.1_Missense_Mutation_p.H654N	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	654	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.184211	12.789829	16.371514	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140188732	140188732	11946	5	C	A	A	A	273	21	PCDHA4	2	2
PCDHB9	56127	broad.mit.edu	37	5	140568931	140568931	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140568931G>T	uc003liw.1	+	c.2040G>T	c.(2038-2040)CAG>CAT	p.Q680H		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	680	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.172414	18.813725	24.695318	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140568931	140568931	11969	5	G	T	T	T	455	35	PCDHB9	2	2
PCDHB14	56122	broad.mit.edu	37	5	140605042	140605042	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140605042C>T	uc003ljb.2	+	c.1965C>T	c.(1963-1965)ACC>ACT	p.T655T	PCDHB14_uc011dal.1_Silent_p.T502T	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	655	Cadherin 6.|Extracellular (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)			Ovarian(141;50 1831 27899 33809 37648)								0.333333	15.070855	15.439437	5	10	KEEP	---	---	---	---	capture		Silent	SNP	140605042	140605042	11959	5	C	T	T	T	288	23	PCDHB14	1	1
PCDHGA2	56113	broad.mit.edu	37	5	140718666	140718666	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140718666C>G	uc003ljk.1	+	c.128C>G	c.(127-129)TCC>TGC	p.S43C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.S43C	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	43	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)									OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.242857	44.494268	48.762947	17	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140718666	140718666	11974	5	C	G	G	G	390	30	PCDHGA2	3	3
PCDHGA8	9708	broad.mit.edu	37	5	140773068	140773068	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140773068G>T	uc003lkd.1	+	c.688G>T	c.(688-690)GTG>TTG	p.V230L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V230L	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	230	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.405405	46.92133	47.209633	15	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140773068	140773068	11980	5	G	T	T	T	520	40	PCDHGA8	1	1
SH3RF2	153769	broad.mit.edu	37	5	145428763	145428763	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145428763G>T	uc003lnt.2	+	c.1277G>T	c.(1276-1278)GGG>GTG	p.G426V	SH3RF2_uc011dbl.1_Missense_Mutation_p.G426V|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.2_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	426	SH3 3.						ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)									OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.396552	64.523818	65.062873	23	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145428763	145428763	14751	5	G	T	T	T	559	43	SH3RF2	2	2
ABLIM3	22885	broad.mit.edu	37	5	148577839	148577839	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148577839G>C	uc003lpy.2	+	c.209G>C	c.(208-210)TGC>TCC	p.C70S	ABLIM3_uc003lpz.1_Missense_Mutation_p.C70S|ABLIM3_uc003lqa.1_Missense_Mutation_p.A52P|ABLIM3_uc003lqb.2_Missense_Mutation_p.C70S|ABLIM3_uc003lqc.1_Missense_Mutation_p.C70S|ABLIM3_uc003lqd.1_Missense_Mutation_p.C70S|ABLIM3_uc003lqf.2_Missense_Mutation_p.C70S|ABLIM3_uc003lqe.1_Missense_Mutation_p.C70S	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	70	LIM zinc-binding 1.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.214286	32.273061	36.491024	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148577839	148577839	97	5	G	C	C	C	598	46	ABLIM3	3	3
PDE6A	5145	broad.mit.edu	37	5	149301211	149301211	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149301211G>T	uc003lrg.3	-	c.920C>A	c.(919-921)ACT>AAT	p.T307N		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	307	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)											0.22449	25.403945	28.819058	11	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149301211	149301211	12066	5	G	T	T	T	468	36	PDE6A	2	2
ATP10B	23120	broad.mit.edu	37	5	160097655	160097655	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160097655G>T	uc003lym.1	-	c.490C>A	c.(490-492)CAG>AAG	p.Q164K	ATP10B_uc003lyp.2_Missense_Mutation_p.Q164K|ATP10B_uc011deg.1_Missense_Mutation_p.Q208K|ATP10B_uc003lyo.2_Missense_Mutation_p.Q136K	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	164	Cytoplasmic (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(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.571429	89.904561	90.122277	28	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160097655	160097655	1136	5	G	T	T	T	598	46	ATP10B	2	2
DOCK2	1794	broad.mit.edu	37	5	169186708	169186708	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169186708G>T	uc003maf.2	+	c.2377_splice	c.e24-1	p.V793_splice	DOCK2_uc011der.1_Splice_Site_SNP|DOCK2_uc010jjm.2_Splice_Site_SNP_p.V285_splice	NM_004946	NP_004937			dedicator of cytokinesis 2						actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.264706	22.758367	24.460742	9	25	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	169186708	169186708	4871	5	G	T	T	T	455	35	DOCK2	5	2
STK10	6793	broad.mit.edu	37	5	171481638	171481638	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:171481638C>G	uc003mbo.1	-	c.2587G>C	c.(2587-2589)GAG>CAG	p.E863Q		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	863	Gln-rich.|Potential.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity	p.E863Q(1)		ovary(3)|testis(1)|lung(1)|pancreas(1)	6	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)							570				0.276596	74.427349	78.639401	26	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171481638	171481638	15806	5	C	G	G	G	403	31	STK10	3	3
CDH10	1008	broad.mit.edu	37	5	24488165	24488165	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24488165G>C	uc003jgr.1	-	c.1974C>G	c.(1972-1974)AAC>AAG	p.N658K	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	658	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.075	-0.204635	7.206433	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24488165	24488165	3225	5	G	C	C	C	516	40	CDH10	3	3
CDH10	1008	broad.mit.edu	37	5	24498602	24498602	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24498602C>A	uc003jgr.1	-	c.1420G>T	c.(1420-1422)GCT>TCT	p.A474S	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	474	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.157895	4.211749	6.334583	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24498602	24498602	3225	5	C	A	A	A	338	26	CDH10	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33546180	33546180	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33546180G>T	uc003jia.1	-	c.4430C>A	c.(4429-4431)ACT>AAT	p.T1477N	ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1392N	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1477	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.276923	46.919126	49.83225	18	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33546180	33546180	258	5	G	T	T	T	468	36	ADAMTS12	2	2
SPEF2	79925	broad.mit.edu	37	5	35806912	35806912	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35806912A>T	uc003jjo.2	+	c.5114A>T	c.(5113-5115)CAG>CTG	p.Q1705L	SPEF2_uc003jjp.1_Missense_Mutation_p.Q1191L|SPEF2_uc003jjr.2_Missense_Mutation_p.Q760L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1705	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.390244	46.384274	46.818775	16	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35806912	35806912	15547	5	A	T	T	T	91	7	SPEF2	3	3
IRX1	79192	broad.mit.edu	37	5	3599550	3599550	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:3599550T>C	uc003jde.2	+	c.488T>C	c.(487-489)CTG>CCG	p.L163P		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	163	Homeobox; TALE-type.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|pancreas(1)	2														0.172414	10.356995	13.29716	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3599550	3599550	8147	5	T	C	C	C	715	55	IRX1	4	4
TPPP	11076	broad.mit.edu	37	5	665282	665282	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:665282A>G	uc003jbg.3	-	c.595T>C	c.(595-597)TCA>CCA	p.S199P	TPPP_uc003jbh.3_Missense_Mutation_p.S199P	NM_007030	NP_008961	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	199					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding				0		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)						304				0.217391	10.061191	11.757195	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	665282	665282	16957	5	A	G	G	G	130	10	TPPP	4	4
CMYA5	202333	broad.mit.edu	37	5	79033557	79033557	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79033557C>T	uc003kgc.2	+	c.8969C>T	c.(8968-8970)CCA>CTA	p.P2990L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2990						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)										0.3	50.336312	52.475039	18	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79033557	79033557	3728	5	C	T	T	T	273	21	CMYA5	2	2
SIM1	6492	broad.mit.edu	37	6	100838958	100838959	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100838958_100838959TG>AT	uc003pqj.3	-	c.1579_1580CA>AT	c.(1579-1581)CAT>ATT	p.H527I	SIM1_uc010kcu.2_Missense_Mutation_p.H527I	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	527	Single-minded C-terminal.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)										0.3	16.742108	17.456902	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	100838958	100838959	14818	6	TG	AT	AT	AT	663	51	SIM1	3	3
ARMC2	84071	broad.mit.edu	37	6	109175689	109175689	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:109175689G>T	uc003pss.3	+	c.218_splice	c.e2+1	p.S73_splice	ARMC2_uc011eao.1_Splice_Site_SNP	NM_032131	NP_115507			armadillo repeat containing 2								binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)										0.322222	85.144493	87.669803	29	61	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	109175689	109175689	969	6	G	T	T	T	572	44	ARMC2	5	2
KIAA1919	91749	broad.mit.edu	37	6	111583510	111583510	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:111583510C>T	uc003puv.3	+	c.78C>T	c.(76-78)AAC>AAT	p.N26N		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	26	Extracellular (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)										0.060606	-7.088529	12.841839	6	93	KEEP	---	---	---	---	capture		Silent	SNP	111583510	111583510	8573	6	C	T	T	T	246	19	KIAA1919	1	1
THEMIS	387357	broad.mit.edu	37	6	128134734	128134734	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128134734G>T	uc011ebt.1	-	c.1052C>A	c.(1051-1053)ACG>AAG	p.T351K	THEMIS_uc010kfa.2_Missense_Mutation_p.T254K|THEMIS_uc003qbi.2_Missense_Mutation_p.T351K|THEMIS_uc010kfb.2_Missense_Mutation_p.T316K	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	351	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)	2														0.106383	6.047591	13.270725	5	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128134734	128134734	16388	6	G	T	T	T	520	40	THEMIS	1	1
LAMA2	3908	broad.mit.edu	37	6	129609021	129609021	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129609021C>T	uc003qbn.2	+	c.2567C>T	c.(2566-2568)TCT>TTT	p.S856F	LAMA2_uc003qbo.2_Missense_Mutation_p.S856F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	856	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.337079	86.719755	88.810662	30	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129609021	129609021	8929	6	C	T	T	T	416	32	LAMA2	2	2
VNN1	8876	broad.mit.edu	37	6	133032955	133032955	+	Silent	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:133032955T>C	uc003qdo.2	-	c.234A>G	c.(232-234)CCA>CCG	p.P78P		NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	78	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)										0.074468	-4.3488	13.140951	7	87	KEEP	---	---	---	---	capture		Silent	SNP	133032955	133032955	17749	6	T	C	C	C	704	55	VNN1	4	4
SYNE1	23345	broad.mit.edu	37	6	152751709	152751709	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152751709C>T	uc010kiw.2	-	c.4597G>A	c.(4597-4599)GGG>AGG	p.G1533R	SYNE1_uc003qot.3_Missense_Mutation_p.G1540R|SYNE1_uc003qou.3_Missense_Mutation_p.G1533R|SYNE1_uc010kjb.1_Missense_Mutation_p.G1516R|SYNE1_uc003qow.2_Missense_Mutation_p.G828R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1533	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.105263	3.771768	9.657238	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152751709	152751709	15966	6	C	T	T	T	299	23	SYNE1	1	1
SYNE1	23345	broad.mit.edu	37	6	152949425	152949425	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152949425G>A	uc010kiw.2	-	c.42C>T	c.(40-42)ATC>ATT	p.I14I	SYNE1_uc003qot.3_Silent_p.I14I|SYNE1_uc003qou.3_Silent_p.I14I|SYNE1_uc010kjb.1_Silent_p.I14I|SYNE1_uc003qpa.1_Silent_p.I14I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	14	Actin-binding.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.054054	-6.861811	8.654407	4	70	KEEP	---	---	---	---	capture		Silent	SNP	152949425	152949425	15966	6	G	A	A	A	473	37	SYNE1	1	1
LPA	4018	broad.mit.edu	37	6	160999577	160999577	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160999577G>T	uc003qtl.2	-	c.4449C>A	c.(4447-4449)AGC>AGA	p.S1483R		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3991	Kringle 35.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.308642	69.342104	71.987027	25	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160999577	160999577	9276	6	G	T	T	T	594	46	LPA	2	2
MAP3K4	4216	broad.mit.edu	37	6	161470818	161470818	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161470818G>T	uc003qtn.2	+	c.1514G>T	c.(1513-1515)GGC>GTC	p.G505V	MAP3K4_uc010kkc.1_Missense_Mutation_p.G505V|MAP3K4_uc003qto.2_Missense_Mutation_p.G505V|MAP3K4_uc011efz.1_Non-coding_Transcript|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	505					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.G505V(1)		ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)						511				0.176471	10.728909	14.083993	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161470818	161470818	9635	6	G	T	T	T	546	42	MAP3K4	2	2
THBS2	7058	broad.mit.edu	37	6	169640650	169640650	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169640650C>A	uc003qwt.2	-	c.929G>T	c.(928-930)GGC>GTC	p.G310V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	310					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		Esophageal Squamous(91;219 1934 18562 44706)								0.583333	22.326952	22.399774	7	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169640650	169640650	16382	6	C	A	A	A	338	26	THBS2	2	2
HSPA1L	3305	broad.mit.edu	37	6	31778903	31778903	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31778903T>C	uc003nxh.2	-	c.847A>G	c.(847-849)AAC>GAC	p.N283D	HSPA1L_uc010jte.2_Missense_Mutation_p.N283D	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	283					response to unfolded protein		ATP binding			ovary(3)|kidney(1)|pleura(1)	5										2				0.071429	-3.809527	12.086167	6	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31778903	31778903	7709	6	T	C	C	C	819	63	HSPA1L	4	4
TAP2	6891	broad.mit.edu	37	6	32797253	32797253	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32797253C>T	uc011dqf.1	-	c.1856G>A	c.(1855-1857)CGG>CAG	p.R619Q	TAP2_uc003ocb.1_Missense_Mutation_p.R619Q|TAP2_uc003occ.2_Missense_Mutation_p.R619Q|TAP2_uc003ocd.2_Missense_Mutation_p.R619Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	619	ABC transporter.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0														0.081081	-0.038491	6.518315	3	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32797253	32797253	16072	6	C	T	T	T	299	23	TAP2	1	1
PRPH2	5961	broad.mit.edu	37	6	42689526	42689526	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42689526G>A	uc003osk.2	-	c.547C>T	c.(547-549)CGC>TGC	p.R183C		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	183	Lumenal (Potential).				cell adhesion|response to stimulus|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)											0.042553	-13.265135	7.833191	4	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42689526	42689526	13020	6	G	A	A	A	481	37	PRPH2	1	1
BAI3	577	broad.mit.edu	37	6	69349085	69349085	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69349085C>A	uc003pev.3	+	c.518C>A	c.(517-519)ACT>AAT	p.T173N	BAI3_uc010kak.2_Missense_Mutation_p.T173N	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	173	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.254902	33.949952	36.730101	13	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69349085	69349085	1321	6	C	A	A	A	260	20	BAI3	2	2
RREB1	6239	broad.mit.edu	37	6	7231500	7231500	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7231500C>T	uc003mxb.2	+	c.3168C>T	c.(3166-3168)CCC>CCT	p.P1056P	RREB1_uc003mxc.2_Silent_p.P1056P|RREB1_uc010jnx.2_Silent_p.P1056P	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1056	Pro-rich.				multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.093023	1.785447	8.934018	4	39	KEEP	---	---	---	---	capture		Silent	SNP	7231500	7231500	14159	6	C	T	T	T	275	22	RREB1	2	2
TTK	7272	broad.mit.edu	37	6	80751919	80751919	+	Nonstop_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80751919A>G	uc003pjc.2	+	c.2574A>G	c.(2572-2574)TGA>TGG	p.*858W	TTK_uc003pjb.3_Nonstop_Mutation_p.*857W	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	858					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|large_intestine(2)|pancreas(1)	9		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)						471				0.3125	14.368946	14.869844	5	11	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	80751919	80751919	17275	6	A	G	G	G	156	12	TTK	5	4
BACH2	60468	broad.mit.edu	37	6	90660046	90660046	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90660046G>T	uc011eab.1	-	c.1779C>A	c.(1777-1779)TCC>TCA	p.S593S	BACH2_uc003pnw.2_Silent_p.S593S|BACH2_uc010kch.2_Silent_p.S593S	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	593					regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|lung(1)|pancreas(1)	5		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)										0.273585	78.33971	83.169117	29	77	KEEP	---	---	---	---	capture		Silent	SNP	90660046	90660046	1305	6	G	T	T	T	496	39	BACH2	1	1
FUT9	10690	broad.mit.edu	37	6	96651197	96651197	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96651197A>T	uc003pop.3	+	c.166A>T	c.(166-168)ACC>TCC	p.T56S		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	56	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)	1		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		Melanoma(98;1369 1476 6592 22940 26587)								0.208333	11.763416	13.652985	5	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96651197	96651197	6362	6	A	T	T	T	78	6	FUT9	3	3
PUS7	54517	broad.mit.edu	37	7	105142947	105142947	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:105142947C>A	uc010lji.2	-	c.650G>T	c.(649-651)GGA>GTA	p.G217V	PUS7_uc003vcx.2_Missense_Mutation_p.G217V|PUS7_uc003vcy.2_Missense_Mutation_p.G217V|PUS7_uc003vcz.1_Missense_Mutation_p.G217V	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	217					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						Colon(138;2387 3051 17860)								0.212121	14.605626	17.135116	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105142947	105142947	13291	7	C	A	A	A	390	30	PUS7	2	2
TMEM168	64418	broad.mit.edu	37	7	112423881	112423881	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112423881T>A	uc003vgn.2	-	c.1000A>T	c.(1000-1002)AGG>TGG	p.R334W	TMEM168_uc010lju.2_Missense_Mutation_p.R334W|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	334						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2														0.033493	-35.560229	14.040475	7	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112423881	112423881	16617	7	T	A	A	A	713	55	TMEM168	3	3
TAS2R16	50833	broad.mit.edu	37	7	122635601	122635601	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122635601C>A	uc003vkl.1	-	c.88G>T	c.(88-90)GCA>TCA	p.A30S		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	30	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|integral to membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)	1														0.339623	51.736105	52.940103	18	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122635601	122635601	16091	7	C	A	A	A	325	25	TAS2R16	2	2
FLNC	2318	broad.mit.edu	37	7	128477515	128477515	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128477515T>G	uc003vnz.3	+	c.763T>G	c.(763-765)TCC>GCC	p.S255A	FLNC_uc003voa.3_Missense_Mutation_p.S255A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	255	CH 2.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.291667	19.715462	20.648374	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128477515	128477515	6177	7	T	G	G	G	754	58	FLNC	4	4
CPA4	51200	broad.mit.edu	37	7	129962469	129962469	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129962469C>G	uc003vpr.2	+	c.1219C>G	c.(1219-1221)CTG>GTG	p.L407V	CPA4_uc011kpd.1_Missense_Mutation_p.L374V|CPA4_uc011kpe.1_Missense_Mutation_p.L303V	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	407					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.052632	-6.544614	9.506482	4	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129962469	129962469	3930	7	C	G	G	G	363	28	CPA4	3	3
BRAF	673	broad.mit.edu	37	7	140482873	140482873	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140482873C>A	uc003vwc.3	-	c.1262G>T	c.(1261-1263)GGA>GTA	p.G421V		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	421					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G421V(1)	KIAA1549/BRAF(211)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(7681)|large_intestine(4665)|skin(3221)|NS(366)|central_nervous_system(264)|ovary(219)|lung(77)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(27)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(16)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	16798	Melanoma(164;0.00956)				Sorafenib(DB00398)	Colon(40;35 892 2973 5743 27438)		61		451				0.27027	24.544189	26.299277	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140482873	140482873	1527	7	C	A	A	A	390	30	BRAF	2	2
OR9A4	130075	broad.mit.edu	37	7	141618813	141618813	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141618813G>T	uc003vwu.1	+	c.138G>T	c.(136-138)ATG>ATT	p.M46I		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	46	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0171)													0.307692	194.20447	201.923732	72	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141618813	141618813	11660	7	G	T	T	T	585	45	OR9A4	2	2
MGAM	8972	broad.mit.edu	37	7	141736753	141736753	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141736753C>T	uc003vwy.2	+	c.2207C>T	c.(2206-2208)ACG>ATG	p.T736M		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	736	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.33945	106.047991	108.528799	37	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141736753	141736753	9931	7	C	T	T	T	247	19	MGAM	1	1
KCNH2	3757	broad.mit.edu	37	7	150646098	150646098	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150646098G>C	uc003wic.2	-	c.2438C>G	c.(2437-2439)GCA>GGA	p.A813G	KCNH2_uc003wib.2_Missense_Mutation_p.A473G|KCNH2_uc011kux.1_Missense_Mutation_p.A717G	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	813	Cytoplasmic (Potential).|cNMP.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			ovary(1)|skin(1)	2	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GBM(137;110 1844 13671 20123 45161)				314				0.351852	59.509677	60.554655	19	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150646098	150646098	8337	7	G	C	C	C	598	46	KCNH2	3	3
HOXA2	3199	broad.mit.edu	37	7	27140790	27140790	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27140790T>C	uc003syh.2	-	c.686A>G	c.(685-687)GAG>GGG	p.E229G		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	229						nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.289855	59.173761	61.903315	20	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27140790	27140790	7584	7	T	C	C	C	702	54	HOXA2	4	4
HOXA3	3200	broad.mit.edu	37	7	27149733	27149734	+	Splice_Site_DNP	DNP	CC	AA	AA			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27149733_27149734CC>AA	uc011jzl.1	-	c.526_splice	c.e2+1	p.G176_splice	HOXA3_uc011jzk.1_Splice_Site_DNP_p.G18_splice|HOXA3_uc003syk.2_Splice_Site_DNP_p.G176_splice	NM_030661	NP_109377			homeobox A3 isoform a						angiogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(2)	2						Esophageal Squamous(136;1368 1743 5685 7935 50360)								0.313433	58.962615	61.031829	21	46	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	27149733	27149734	7585	7	CC	AA	AA	AA	234	18	HOXA3	5	2
CCDC129	223075	broad.mit.edu	37	7	31617678	31617678	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31617678G>C	uc011kae.1	+	c.878G>C	c.(877-879)CGG>CCG	p.R293P	CCDC129_uc011kad.1_Missense_Mutation_p.R277P|CCDC129_uc003tcj.1_Missense_Mutation_p.R267P|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.R175P	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	267											0														0.483333	81.363899	81.378565	29	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31617678	31617678	2884	7	G	C	C	C	507	39	CCDC129	3	3
CCDC129	223075	broad.mit.edu	37	7	31682401	31682401	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31682401G>C	uc011kae.1	+	c.1495G>C	c.(1495-1497)GAT>CAT	p.D499H	CCDC129_uc011kad.1_Missense_Mutation_p.D483H|CCDC129_uc003tcj.1_Missense_Mutation_p.D473H|CCDC129_uc003tci.1_Missense_Mutation_p.D324H|CCDC129_uc003tck.1_Missense_Mutation_p.D381H	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	473											0														0.25	44.223322	48.313131	18	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31682401	31682401	2884	7	G	C	C	C	533	41	CCDC129	3	3
ZNF479	90827	broad.mit.edu	37	7	57188282	57188282	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57188282G>T	uc010kzo.2	-	c.840C>A	c.(838-840)CGC>CGA	p.R280R		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	280	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.179487	12.377733	16.187825	7	32	KEEP	---	---	---	---	capture		Silent	SNP	57188282	57188282	18527	7	G	T	T	T	431	34	ZNF479	2	2
WBSCR28	135886	broad.mit.edu	37	7	73279405	73279405	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73279405A>G	uc003tzk.2	+	c.155A>G	c.(154-156)CAG>CGG	p.Q52R	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	52						integral to membrane				breast(1)	1		Lung NSC(55;0.159)												0.055556	-6.657374	8.32605	4	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73279405	73279405	17839	7	A	G	G	G	91	7	WBSCR28	4	4
KIAA1324L	222223	broad.mit.edu	37	7	86554857	86554857	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:86554857G>T	uc011kha.1	-	c.1386C>A	c.(1384-1386)TGC>TGA	p.C462*	KIAA1324L_uc003uif.1_Nonsense_Mutation_p.C222*|KIAA1324L_uc011kgz.1_Nonsense_Mutation_p.C348*|KIAA1324L_uc003uie.2_Nonsense_Mutation_p.C295*	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	462	Extracellular (Potential).					integral to membrane				ovary(6)	6	Esophageal squamous(14;0.0058)													0.25641	26.737613	28.831994	10	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	86554857	86554857	8533	7	G	T	T	T	490	38	KIAA1324L	5	1
ABCB1	5243	broad.mit.edu	37	7	87174141	87174141	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87174141G>T	uc003uiz.1	-	c.2062C>A	c.(2062-2064)CTG>ATG	p.L688M	ABCB1_uc011khc.1_Missense_Mutation_p.L624M	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	688	Cytoplasmic (Potential).					apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.296296	42.377132	44.382223	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87174141	87174141	41	7	G	T	T	T	425	33	ABCB1	2	2
C7orf64	84060	broad.mit.edu	37	7	92158154	92158154	+	Silent	SNP	G	A	A	rs117787377	by1000genomes	TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92158154G>A	uc003ulz.2	+	c.27G>A	c.(25-27)GGG>GGA	p.G9G	PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Silent_p.G9G|C7orf64_uc003uma.2_Silent_p.G9G	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	9							nucleotide binding			ovary(2)	2														0.157895	4.511643	6.633823	3	16	KEEP	---	---	---	---	capture		Silent	SNP	92158154	92158154	2517	7	G	A	A	A	522	41	C7orf64	2	2
TRRAP	8295	broad.mit.edu	37	7	98519392	98519392	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98519392T>C	uc003upp.2	+	c.2639T>C	c.(2638-2640)TTA>TCA	p.L880S	TRRAP_uc011kis.1_Missense_Mutation_p.L880S|TRRAP_uc003upr.2_Missense_Mutation_p.L572S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	880					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)							1847				0.045918	-22.680008	20.443012	9	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98519392	98519392	17152	7	T	C	C	C	793	61	TRRAP	4	4
CYP3A5	1577	broad.mit.edu	37	7	99250236	99250236	+	Missense_Mutation	SNP	G	T	T	rs28365083	byFrequency;by1000genomes	TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99250236G>T	uc003urq.2	-	c.1193C>A	c.(1192-1194)ACT>AAT	p.T398N	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Missense_Mutation_p.T218N|CYP3A5_uc003urr.2_Missense_Mutation_p.T285N|CYP3A5_uc011kiy.1_Missense_Mutation_p.T388N|CYP3A5_uc003urs.2_Missense_Mutation_p.T46N|CYP3A5_uc010lgg.2_Intron	NM_000777	NP_000768	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A,	398					alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)									0.04717	-13.210191	9.942798	5	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99250236	99250236	4345	7	G	T	T	T	468	36	CYP3A5	2	2
XKR6	286046	broad.mit.edu	37	8	10756253	10756253	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10756253C>A	uc003wtk.1	-	c.1135G>T	c.(1135-1137)GCT>TCT	p.A379S		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	379	Helical; (Potential).					integral to membrane				ovary(1)	1				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)										0.242187	73.923711	81.722581	31	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10756253	10756253	18016	8	C	A	A	A	325	25	XKR6	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110457470	110457470	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110457470T>C	uc003yne.2	+	c.5372T>C	c.(5371-5373)ATA>ACA	p.I1791T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1791	Extracellular (Potential).|IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.232143	33.947098	37.626406	13	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110457470	110457470	12397	8	T	C	C	C	637	49	PKHD1L1	4	4
CSMD3	114788	broad.mit.edu	37	8	113516162	113516162	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113516162C>A	uc003ynu.2	-	c.4940G>T	c.(4939-4941)GGA>GTA	p.G1647V	CSMD3_uc003yns.2_Missense_Mutation_p.G919V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1607V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1543V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1647	Extracellular (Potential).|CUB 9.					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)			0.407407	31.719589	31.921911	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113516162	113516162	4087	8	C	A	A	A	390	30	CSMD3	2	2
CSMD1	64478	broad.mit.edu	37	8	2820853	2820853	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2820853C>T	uc011kwk.1	-	c.9348G>A	c.(9346-9348)TGG>TGA	p.W3116*	CSMD1_uc011kwj.1_Nonsense_Mutation_p.W2445*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.W1007*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3116	Sushi 25.|Extracellular (Potential).					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)										0.241379	34.620384	38.160014	14	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2820853	2820853	4085	8	C	T	T	T	286	22	CSMD1	5	2
FZD3	7976	broad.mit.edu	37	8	28420374	28420374	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:28420374G>C	uc003xgx.2	+	c.1847G>C	c.(1846-1848)CGA>CCA	p.R616P	FZD3_uc010lvb.2_Missense_Mutation_p.R616P	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	616	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)										0.318182	21.220425	21.865146	7	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28420374	28420374	6382	8	G	C	C	C	481	37	FZD3	3	3
TEX15	56154	broad.mit.edu	37	8	30700988	30700988	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30700988G>T	uc003xil.2	-	c.5546C>A	c.(5545-5547)CCA>CAA	p.P1849Q		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1849										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.189189	16.202201	19.546487	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30700988	30700988	16306	8	G	T	T	T	611	47	TEX15	2	2
CSMD1	64478	broad.mit.edu	37	8	3165914	3165914	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3165914T>C	uc011kwk.1	-	c.3746A>G	c.(3745-3747)TAC>TGC	p.Y1249C	CSMD1_uc011kwj.1_Missense_Mutation_p.Y641C|CSMD1_uc003wqe.2_Missense_Mutation_p.Y405C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1249	Extracellular (Potential).|Sushi 7.					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)										0.269231	18.716135	19.96416	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3165914	3165914	4085	8	T	C	C	C	741	57	CSMD1	4	4
PROSC	11212	broad.mit.edu	37	8	37635546	37635546	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37635546A>G	uc003xkh.2	+	c.752A>G	c.(751-753)GAT>GGT	p.D251G		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog	251							pyridoxal phosphate binding			central_nervous_system(1)	1		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)									0.354839	31.200619	31.782632	11	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37635546	37635546	13002	8	A	G	G	G	156	12	PROSC	4	4
SNTG1	54212	broad.mit.edu	37	8	51617216	51617216	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51617216G>A	uc010lxy.1	+	c.1095G>A	c.(1093-1095)GGG>GGA	p.G365G	SNTG1_uc003xqs.1_Silent_p.G365G|SNTG1_uc010lxz.1_Silent_p.G365G|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	365	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.323529	32.113399	33.053205	11	23	KEEP	---	---	---	---	capture		Silent	SNP	51617216	51617216	15374	8	G	A	A	A	548	43	SNTG1	2	2
PXDNL	137902	broad.mit.edu	37	8	52321726	52321726	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52321726C>A	uc003xqu.3	-	c.2458G>T	c.(2458-2460)GCG>TCG	p.A820S	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	820					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.5	6.549961	6.549961	2	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52321726	52321726	13306	8	C	A	A	A	325	25	PXDNL	2	2
PRDM14	63978	broad.mit.edu	37	8	70978583	70978583	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70978583T>C	uc003xym.2	-	c.1070A>G	c.(1069-1071)CAT>CGT	p.H357R		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	357	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			NSCLC(129;99 1813 5906 40656 46114)								0.232558	22.526239	25.345372	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70978583	70978583	12897	8	T	C	C	C	663	51	PRDM14	4	4
CNBD1	168975	broad.mit.edu	37	8	88218364	88218364	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88218364C>A	uc003ydy.2	+	c.575C>A	c.(574-576)ACA>AAA	p.T192K		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	192										ovary(3)	3														0.291667	18.815102	19.74825	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88218364	88218364	3729	8	C	A	A	A	221	17	CNBD1	2	2
UQCRB	7381	broad.mit.edu	37	8	97244118	97244118	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97244118T>C	uc003yhq.3	-	c.142A>G	c.(142-144)ATA>GTA	p.I48V	UQCRB_uc011lgt.1_Non-coding_Transcript|UQCRB_uc010mbc.2_Non-coding_Transcript	NM_006294	NP_006285	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding	48					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			ovary(1)	1	Breast(36;5.16e-05)													0.138889	5.648531	10.190693	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97244118	97244118	17579	8	T	C	C	C	663	51	UQCRB	4	4
TSTD2	158427	broad.mit.edu	37	9	100365004	100365004	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100365004G>C	uc004axn.2	-	c.1298C>G	c.(1297-1299)TCT>TGT	p.S433C	TSTD2_uc004axo.2_Missense_Mutation_p.S207C	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like	433				S -> C (in Ref. 2; BAC87530).						ovary(2)	2														0.105263	2.465796	8.369214	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100365004	100365004	17229	9	G	C	C	C	429	33	TSTD2	3	3
MURC	347273	broad.mit.edu	37	9	103348495	103348495	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:103348495A>T	uc004bba.2	+	c.857A>T	c.(856-858)GAG>GTG	p.E286V		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	286					cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)												0.403509	66.613613	67.077285	23	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103348495	103348495	10381	9	A	T	T	T	143	11	MURC	3	3
GRIN3A	116443	broad.mit.edu	37	9	104433196	104433196	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104433196C>A	uc004bbp.1	-	c.1498G>T	c.(1498-1500)GCC>TCC	p.A500S	GRIN3A_uc004bbq.1_Missense_Mutation_p.A500S	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	500	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|central_nervous_system(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)					27				0.333333	35.166501	36.123685	13	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104433196	104433196	7062	9	C	A	A	A	338	26	GRIN3A	2	2
WDR31	114987	broad.mit.edu	37	9	116091203	116091203	+	Missense_Mutation	SNP	A	C	C	rs35305327		TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116091203A>C	uc004bhe.2	-	c.282T>G	c.(280-282)AAT>AAG	p.N94K	WDR31_uc004bhc.2_Missense_Mutation_p.N93K|WDR31_uc004bhd.2_5'UTR|WDR31_uc004bhf.2_Non-coding_Transcript	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	94	WD 1.										0														0.090909	2.899908	8.466154	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116091203	116091203	17859	9	A	C	C	C	102	8	WDR31	4	4
OR1L4	254973	broad.mit.edu	37	9	125486939	125486939	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125486939T>A	uc004bmu.1	+	c.671T>A	c.(670-672)GTC>GAC	p.V224D		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.21608	90.411995	105.22474	43	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125486939	125486939	11371	9	T	A	A	A	754	58	OR1L4	3	3
SMARCA2	6595	broad.mit.edu	37	9	2161702	2161702	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:2161702A>G	uc003zhc.2	+	c.3998A>G	c.(3997-3999)AAT>AGT	p.N1333S	SMARCA2_uc003zhd.2_Missense_Mutation_p.N1333S|SMARCA2_uc010mha.2_Missense_Mutation_p.N1266S|SMARCA2_uc011llw.1_Missense_Mutation_p.N37S|SMARCA2_uc003zhf.2_5'UTR|SMARCA2_uc011llx.1_5'UTR|SMARCA2_uc003zhe.2_Missense_Mutation_p.N39S|SMARCA2_uc003zhg.2_5'UTR|SMARCA2_uc010mhb.2_Missense_Mutation_p.N21S	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1333					chromatin remodeling|negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein binding|transcription activator activity|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)										0.4375	68.269672	68.432849	21	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2161702	2161702	15267	9	A	G	G	G	52	4	SMARCA2	4	4
TEK	7010	broad.mit.edu	37	9	27203075	27203075	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:27203075C>A	uc003zqi.3	+	c.2167C>A	c.(2167-2169)CCA>ACA	p.P723T	TEK_uc011lno.1_Missense_Mutation_p.P680T|TEK_uc011lnp.1_Missense_Mutation_p.P576T|TEK_uc003zqj.1_Missense_Mutation_p.P657T	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	723	Extracellular (Potential).|Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P723T(1)		ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)						493				0.68	55.782435	56.501686	17	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27203075	27203075	16278	9	C	A	A	A	286	22	TEK	2	2
KIAA1539	80256	broad.mit.edu	37	9	35107405	35107405	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35107405C>A	uc003zwl.2	-	c.867G>T	c.(865-867)CTG>CTT	p.L289L	KIAA1539_uc003zwm.2_Silent_p.L289L|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Silent_p.L289L|KIAA1539_uc003zwp.1_Silent_p.L289L|KIAA1539_uc010mkk.1_Non-coding_Transcript	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	289						nucleus				ovary(1)	1	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.521739	258.438219	258.507663	84	77	KEEP	---	---	---	---	capture		Silent	SNP	35107405	35107405	8551	9	C	A	A	A	314	25	KIAA1539	2	2
RLN2	6019	broad.mit.edu	37	9	5300143	5300143	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5300143A>C	uc003zja.1	-	c.513T>G	c.(511-513)TGT>TGG	p.C171W	RLN2_uc003ziz.1_3'UTR	NM_134441	NP_604390	P04090	REL2_HUMAN	relaxin 2 isoform 1 preproprotein	171					female pregnancy	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)										0.366667	33.216722	33.685772	11	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5300143	5300143	13869	9	A	C	C	C	24	2	RLN2	4	4
FXN	2395	broad.mit.edu	37	9	71661353	71661353	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71661353T>A	uc004aha.2	+	c.218T>A	c.(217-219)GTC>GAC	p.V73D	FXN_uc011lrr.1_Missense_Mutation_p.V73D|FXN_uc004agz.2_Missense_Mutation_p.V73D	NM_000144	NP_000135	Q16595	FRDA_HUMAN	frataxin isoform 1 preproprotein	73					cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding				0														0.4	28.044141	28.26298	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71661353	71661353	6365	9	T	A	A	A	754	58	FXN	3	3
SECISBP2	79048	broad.mit.edu	37	9	91965658	91965658	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:91965658G>A	uc004aqj.1	+	c.2004G>A	c.(2002-2004)AAG>AAA	p.K668K	SECISBP2_uc011ltk.1_Silent_p.K667K|SECISBP2_uc004aqk.1_Silent_p.K595K|SECISBP2_uc010mqo.1_Silent_p.K373K|SECISBP2_uc011ltl.1_Silent_p.K600K	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	668					translation	nucleus	mRNA 3'-UTR binding			ovary(2)	2														0.451327	157.119699	157.35143	51	62	KEEP	---	---	---	---	capture		Silent	SNP	91965658	91965658	14492	9	G	A	A	A	425	33	SECISBP2	2	2
ARMCX1	51309	broad.mit.edu	37	X	100808037	100808037	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100808037G>T	uc004ehv.2	+	c.124G>T	c.(124-126)GAG>TAG	p.E42*	ARMCX1_uc004ehw.2_Nonsense_Mutation_p.E42*	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	42						integral to membrane	binding			ovary(3)|pancreas(1)	4														0.482759	129.741484	129.764068	42	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100808037	100808037	977	23	G	T	T	T	481	37	ARMCX1	5	1
ARMCX3	51566	broad.mit.edu	37	X	100879977	100879977	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100879977A>G	uc004ehz.1	+	c.8A>G	c.(7-9)TAC>TGC	p.Y3C	ARMCX3_uc004eia.1_Missense_Mutation_p.Y3C|ARMCX3_uc004eib.1_Missense_Mutation_p.Y3C|ARMCX3_uc004eic.1_Missense_Mutation_p.Y3C	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	3						integral to membrane	binding			ovary(1)|lung(1)	2														0.175141	68.022285	85.647841	31	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100879977	100879977	979	23	A	G	G	G	182	14	ARMCX3	4	4
RAB40AL	282808	broad.mit.edu	37	X	102192374	102192374	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102192374A>T	uc004ejs.2	+	c.128A>T	c.(127-129)TAC>TTC	p.Y43F		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	43					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			ovary(2)	2														0.390476	119.359547	120.459557	41	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102192374	102192374	13399	23	A	T	T	T	182	14	RAB40AL	3	3
RAB40AL	282808	broad.mit.edu	37	X	102192870	102192870	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102192870G>T	uc004ejs.2	+	c.624G>T	c.(622-624)CTG>CTT	p.L208L		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	208	SOCS box.				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			ovary(2)	2														0.321101	99.284873	102.384504	35	74	KEEP	---	---	---	---	capture		Silent	SNP	102192870	102192870	13399	23	G	T	T	T	600	47	RAB40AL	2	2
TEX13A	56157	broad.mit.edu	37	X	104465043	104465043	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:104465043C>A	uc004ema.2	-	c.39G>T	c.(37-39)CGG>CGT	p.R13R	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Silent_p.R13R	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	13						intracellular	zinc ion binding			ovary(2)	2														0.216216	16.781145	19.529983	8	29	KEEP	---	---	---	---	capture		Silent	SNP	104465043	104465043	16303	23	C	A	A	A	327	26	TEX13A	2	2
COL4A6	1288	broad.mit.edu	37	X	107408699	107408699	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107408699C>A	uc004enw.3	-	c.3712G>T	c.(3712-3714)GGC>TGC	p.G1238C	COL4A6_uc004env.3_Missense_Mutation_p.G1237C|COL4A6_uc011msn.1_Missense_Mutation_p.G1213C|COL4A6_uc010npk.2_Missense_Mutation_p.G1213C|COL4A6_uc010npj.2_5'Flank	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1238	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.5	48.671275	48.671275	17	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107408699	107408699	3833	23	C	A	A	A	286	22	COL4A6	2	2
TRPC5	7224	broad.mit.edu	37	X	111195610	111195610	+	Silent	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111195610C>T	uc004epl.1	-	c.39G>A	c.(37-39)CCG>CCA	p.P13P	TRPC5_uc004epm.1_Silent_p.P13P	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	13	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.067416	-4.516471	12.727291	6	83	KEEP	---	---	---	---	capture		Silent	SNP	111195610	111195610	17133	23	C	T	T	T	236	19	TRPC5	1	1
KIAA1210	57481	broad.mit.edu	37	X	118250614	118250614	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118250614G>T	uc004era.3	-	c.495C>A	c.(493-495)TGC>TGA	p.C165*		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	165										ovary(4)|skin(1)	5														0.368421	21.120024	21.409189	7	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	118250614	118250614	8522	23	G	T	T	T	594	46	KIAA1210	5	2
NKRF	55922	broad.mit.edu	37	X	118724465	118724465	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118724465G>T	uc004erq.2	-	c.923C>A	c.(922-924)CCT>CAT	p.P308H	NKRF_uc004err.2_Missense_Mutation_p.P308H	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	308					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding|specific transcriptional repressor activity			ovary(1)|central_nervous_system(1)	2														0.186047	30.646069	38.595075	16	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118724465	118724465	10848	23	G	T	T	T	455	35	NKRF	2	2
ODZ1	10178	broad.mit.edu	37	X	123839100	123839100	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123839100G>A	uc010nqy.2	-	c.778C>T	c.(778-780)CAT>TAT	p.H260Y	ODZ1_uc011muj.1_Missense_Mutation_p.H260Y|ODZ1_uc004euj.2_Missense_Mutation_p.H260Y	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	260	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.333333	115.667392	119.141448	47	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123839100	123839100	11239	23	G	A	A	A	598	46	ODZ1	2	2
SPANXN2	494119	broad.mit.edu	37	X	142795335	142795335	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142795335G>T	uc004fbz.2	-	c.343C>A	c.(343-345)CTG>ATG	p.L115M		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	115										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.108225	42.387294	112.733016	50	412	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142795335	142795335	15499	23	G	T	T	T	451	35	SPANXN2	2	2
NHS	4810	broad.mit.edu	37	X	17745613	17745613	+	Silent	SNP	G	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:17745613G>C	uc011mix.1	+	c.3387G>C	c.(3385-3387)CCG>CCC	p.P1129P	NHS_uc004cxx.2_Silent_p.P1108P|NHS_uc004cxy.2_Silent_p.P952P|NHS_uc004cxz.2_Silent_p.P931P|NHS_uc004cya.2_Silent_p.P831P	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 2	1108						nucleus				ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6	Hepatocellular(33;0.183)													0.355932	198.790788	202.020513	63	114	KEEP	---	---	---	---	capture		Silent	SNP	17745613	17745613	10811	23	G	C	C	C	509	40	NHS	3	3
ARSF	416	broad.mit.edu	37	X	3002452	3002452	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3002452G>T	uc004cre.1	+	c.575G>T	c.(574-576)TGT>TTT	p.C192F	ARSF_uc004crf.1_Missense_Mutation_p.C192F	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	192						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.27027	26.232786	27.994875	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3002452	3002452	1009	23	G	T	T	T	624	48	ARSF	2	2
MAGEB2	4113	broad.mit.edu	37	X	30236757	30236757	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30236757T>A	uc004dbz.2	+	c.60T>A	c.(58-60)GAT>GAA	p.D20E		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	20							protein binding			ovary(1)	1														0.185185	11.659379	14.167744	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30236757	30236757	9557	23	T	A	A	A	660	51	MAGEB2	3	3
PPP2R3B	28227	broad.mit.edu	37	X	322287	322287	+	Silent	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:322287C>A	uc004cpg.2	-	c.363G>T	c.(361-363)ACG>ACT	p.T121T	PPP2R3B_uc011mha.1_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	121					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.377358	60.534037	61.215485	20	33	KEEP	---	---	---	---	capture		Silent	SNP	322287	322287	12825	23	C	A	A	A	392	31	PPP2R3B	1	1
FAM47B	170062	broad.mit.edu	37	X	34961712	34961712	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34961712G>A	uc004ddi.1	+	c.764G>A	c.(763-765)GGA>GAA	p.G255E		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	255	Pro-rich.									ovary(3)|breast(1)	4														0.302752	86.034103	89.820048	33	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34961712	34961712	5791	23	G	A	A	A	533	41	FAM47B	2	2
MAOA	4128	broad.mit.edu	37	X	43571958	43571958	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:43571958A>T	uc004dfy.2	+	c.418A>T	c.(418-420)ACT>TCT	p.T140S	MAOA_uc011mkw.1_Missense_Mutation_p.T7S	NM_000240	NP_000231	P21397	AOFA_HUMAN	monoamine oxidase A	140	Cytoplasmic.				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|oxidation-reduction process|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			breast(2)|ovary(1)	3					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)									0.238095	12.364348	13.680217	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43571958	43571958	9608	23	A	T	T	T	26	2	MAOA	3	3
SLC38A5	92745	broad.mit.edu	37	X	48319079	48319079	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48319079C>T	uc010nid.2	-	c.1024G>A	c.(1024-1026)GTG>ATG	p.V342M	SLC38A5_uc004djk.3_Missense_Mutation_p.V291M	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	342	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3														0.181818	18.342162	23.556576	10	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48319079	48319079	15104	23	C	T	T	T	247	19	SLC38A5	1	1
ERAS	3266	broad.mit.edu	37	X	48688026	48688026	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48688026G>T	uc004dky.1	+	c.493G>T	c.(493-495)GCT>TCT	p.A165S		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	ES cell expressed Ras precursor	165					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.A165S(1)		lung(2)|urinary_tract(1)	3														0.555556	16.576046	16.600272	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48688026	48688026	5398	23	G	T	T	T	494	38	ERAS	1	1
HUWE1	10075	broad.mit.edu	37	X	53629544	53629544	+	Silent	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53629544G>T	uc004dsp.2	-	c.2952C>A	c.(2950-2952)ACC>ACA	p.T984T		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	984					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.238095	11.063134	12.38015	5	16	KEEP	---	---	---	---	capture		Silent	SNP	53629544	53629544	7761	23	G	T	T	T	548	43	HUWE1	2	2
VSIG4	11326	broad.mit.edu	37	X	65253413	65253413	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65253413C>A	uc004dwh.2	-	c.315G>T	c.(313-315)ATG>ATT	p.M105I	VSIG4_uc004dwi.2_Missense_Mutation_p.M105I|VSIG4_uc010nkq.1_Missense_Mutation_p.M105I|VSIG4_uc004dwj.2_Missense_Mutation_p.M105I|VSIG4_uc011moy.1_Missense_Mutation_p.M105I|VSIG4_uc004dwk.2_Missense_Mutation_p.M105I|VSIG4_uc004dwl.2_Missense_Mutation_p.M1I	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	105	Ig-like 1.|Extracellular (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0														0.371901	129.396592	131.119943	45	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65253413	65253413	17793	23	C	A	A	A	273	21	VSIG4	2	2
ERCC6L	54821	broad.mit.edu	37	X	71425426	71425426	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:71425426G>A	uc004eaq.1	-	c.3191C>T	c.(3190-3192)CCC>CTC	p.P1064L	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.P941L	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	1064					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)													0.054054	-6.658698	8.855208	4	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71425426	71425426	5411	23	G	A	A	A	559	43	ERCC6L	2	2
RLIM	51132	broad.mit.edu	37	X	73812627	73812627	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73812627G>T	uc004ebu.2	-	c.523C>A	c.(523-525)CAA>AAA	p.Q175K	RLIM_uc004ebw.2_Missense_Mutation_p.Q175K	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	175					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						Esophageal Squamous(169;1899 1923 14997 18818 32118)								0.148936	11.839973	17.360569	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73812627	73812627	13867	23	G	T	T	T	598	46	RLIM	2	2
KIAA2022	340533	broad.mit.edu	37	X	73965459	73965459	+	Silent	SNP	A	T	T			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73965459A>T	uc004eby.2	-	c.27T>A	c.(25-27)ATT>ATA	p.I9I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	9					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.3	16.842424	17.55704	6	14	KEEP	---	---	---	---	capture		Silent	SNP	73965459	73965459	8580	23	A	T	T	T	60	5	KIAA2022	3	3
ATRX	546	broad.mit.edu	37	X	76764011	76764011	+	Silent	SNP	G	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:76764011G>A	uc004ecp.3	-	c.7297C>T	c.(7297-7299)CTG>TTG	p.L2433L	ATRX_uc004ecq.3_Silent_p.L2395L|ATRX_uc004eco.3_Silent_p.L2218L	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2433					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)					2				0.310345	73.296389	76.08242	27	60	KEEP	---	---	---	---	capture		Silent	SNP	76764011	76764011	1227	23	G	A	A	A	464	36	ATRX	2	2
POU3F4	5456	broad.mit.edu	37	X	82763391	82763391	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:82763391C>A	uc004eeg.2	+	c.59C>A	c.(58-60)GCG>GAG	p.A20E		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	20					regulation of transcription, DNA-dependent|sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.318841	63.330543	65.340426	22	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82763391	82763391	12707	23	C	A	A	A	351	27	POU3F4	1	1
MMP25	64386	broad.mit.edu	37	16	3108967	3108968	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3108967_3108968insC	uc002cth.2	+	c.1557_1558insC	c.(1555-1560)AGGCCCfs	p.R519fs		NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	519_520					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)								0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	3108967	3108968	10053	16	-	C	C	C	542	42	MMP25	5	5
SF4	57794	broad.mit.edu	37	19	19390997	19390999	+	In_Frame_Del	DEL	CTG	-	-			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19390997_19390999delCTG	uc002nmh.2	-	c.1345_1347delCAG	c.(1345-1347)CAGdel	p.Q449del	SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_In_Frame_Del_p.Q239del|SF4_uc002nmj.2_In_Frame_Del_p.Q239del|SF4_uc002nme.2_5'UTR	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	449	Gln/Met-rich.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0														0.42			8	11		---	---	---	---	capture_indel		In_Frame_Del	DEL	19390997	19390999	14644	19	CTG	-	-	-	311	24	SF4	5	5
TAL1	6886	broad.mit.edu	37	1	47691474	47691475	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47691474_47691475insG	uc001cqx.2	-	c.86_87insC	c.(85-87)CCGfs	p.P29fs	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Frame_Shift_Ins_p.P29fs|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	29					cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity				0										17				0.31			5	11		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	47691474	47691475	16062	1	-	G	G	G	340	27	TAL1	5	5
CHD5	26038	broad.mit.edu	37	1	6214889	6214889	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6214889_6214889delC	uc001amb.1	-	c.576_576delG	c.(574-576)TGGfs	p.W192fs		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	192					chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)					p.W192*(TE1-Tumor)	2304				0.36			4	7		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	6214889	6214889	3462	1	C	-	-	-	338	26	CHD5	5	5
TRDN	10345	broad.mit.edu	37	6	123759209	123759209	+	Frame_Shift_Del	DEL	T	-	-			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123759209_123759209delT	uc003pzj.1	-	c.1050_1050delA	c.(1048-1050)AAAfs	p.K350fs	TRDN_uc003pzk.1_Frame_Shift_Del_p.K351fs|TRDN_uc003pzl.1_Frame_Shift_Del_p.K351fs	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	350	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	123759209	123759209	17012	6	T	-	-	-	725	56	TRDN	5	5
IQSEC2	23096	broad.mit.edu	37	X	53263917	53263917	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53263917_53263917delC	uc004dsd.2	-	c.3951_3951delG	c.(3949-3951)GGGfs	p.G1317fs	IQSEC2_uc004dsc.2_3'UTR	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	1307	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	53263917	53263917	8121	23	C	-	-	-	327	26	IQSEC2	5	5
FAM9A	171482	broad.mit.edu	37	X	8767029	8767029	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z008-01	TCGA-17-Z008-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:8767029_8767029delG	uc004csg.2	-	c.198_198delC	c.(196-198)GCCfs	p.A66fs		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	66						nucleolus					0		Hepatocellular(5;0.219)												0.33			4	8		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	8767029	8767029	5895	23	G	-	-	-	496	39	FAM9A	5	5
