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
SORCS3	22986	broad.mit.edu	37	10	106974254	106974254	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106974254C>T	uc001kyi.1	+	c.2430C>T	c.(2428-2430)ACC>ACT	p.T810T	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	810	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.097561	6.944655	20.235967	8	74	KEEP	---	---	---	---	capture		Silent	SNP	106974254	106974254	15432	10	C	T	T	T	288	23	SORCS3	1	1
SORCS1	114815	broad.mit.edu	37	10	108923814	108923814	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108923814C>G	uc001kyl.2	-	c.471G>C	c.(469-471)GAG>GAC	p.E157D	SORCS1_uc001kym.2_Missense_Mutation_p.E157D|SORCS1_uc009xxs.2_Missense_Mutation_p.E157D|SORCS1_uc001kyn.1_Missense_Mutation_p.E157D|SORCS1_uc001kyo.2_Missense_Mutation_p.E157D	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	157	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.070796	-5.675085	16.192351	8	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108923814	108923814	15430	10	C	G	G	G	363	28	SORCS1	3	3
DMBT1	1755	broad.mit.edu	37	10	124377659	124377659	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124377659A>T	uc001lgk.1	+	c.4631A>T	c.(4630-4632)AAC>ATC	p.N1544I	DMBT1_uc001lgl.1_Missense_Mutation_p.N1534I|DMBT1_uc001lgm.1_Missense_Mutation_p.N916I|DMBT1_uc009xzz.1_Missense_Mutation_p.N1544I|DMBT1_uc010qtx.1_Missense_Mutation_p.N395I|DMBT1_uc009yab.1_Missense_Mutation_p.N247I|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1544	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				Ovarian(182;93 2026 18125 22222 38972)								0.114865	51.14386	116.021049	51	393	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124377659	124377659	4757	10	A	T	T	T	26	2	DMBT1	3	3
CPXM2	119587	broad.mit.edu	37	10	125521609	125521609	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:125521609C>A	uc001lhk.1	-	c.1556G>T	c.(1555-1557)GGC>GTC	p.G519V	CPXM2_uc001lhj.2_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	519					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)										0.098446	8.153175	39.150107	19	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125521609	125521609	3977	10	C	A	A	A	338	26	CPXM2	2	2
FAM196A	642938	broad.mit.edu	37	10	128974376	128974376	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:128974376G>T	uc001lju.1	-	c.284C>A	c.(283-285)TCC>TAC	p.S95Y	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.S95Y|FAM196A_uc001ljv.1_Missense_Mutation_p.S95Y|FAM196A_uc009yap.1_Missense_Mutation_p.S95Y	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	95										ovary(2)	2														0.2	20.150953	24.315161	10	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128974376	128974376	5740	10	G	T	T	T	533	41	FAM196A	2	2
SLC39A12	221074	broad.mit.edu	37	10	18254557	18254557	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18254557C>T	uc001ipo.2	+	c.689C>T	c.(688-690)CCA>CTA	p.P230L	SLC39A12_uc001ipn.2_Missense_Mutation_p.P230L|SLC39A12_uc001ipp.2_Missense_Mutation_p.P230L|SLC39A12_uc010qck.1_Missense_Mutation_p.P96L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	230	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.151724	30.681889	47.687562	22	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18254557	18254557	15112	10	C	T	T	T	273	21	SLC39A12	2	2
BMI1	648	broad.mit.edu	37	10	22606898	22606899	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22606898_22606899GC>TT	uc009xkg.2	+	c.225_226GC>TT	c.(223-228)AAGCAC>AATTAC	p.75_76KH>NY	COMMD3_uc001ire.2_Missense_Mutation_p.75_76KH>NY|COMMD3_uc001irf.2_Missense_Mutation_p.75_76KH>NY|COMMD3_uc001irg.2_Non-coding_Transcript	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	Error:Variant_position_missing_in_P35226_after_alignment					hemopoiesis|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)	1										116				0.138889	7.95361	12.488608	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	22606898	22606899	1480	10	GC	TT	TT	TT	438	34	BMI1	2	2
ARMC3	219681	broad.mit.edu	37	10	23319719	23319719	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23319719T>A	uc001irm.3	+	c.2240T>A	c.(2239-2241)CTG>CAG	p.L747Q	ARMC3_uc010qcv.1_Missense_Mutation_p.L740Q|ARMC3_uc010qcw.1_Missense_Mutation_p.L484Q	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	747							binding				0														0.045752	-18.701038	15.001307	7	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23319719	23319719	970	10	T	A	A	A	715	55	ARMC3	3	3
MYO3A	53904	broad.mit.edu	37	10	26432511	26432511	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26432511C>T	uc001isn.2	+	c.2397C>T	c.(2395-2397)GCC>GCT	p.A799A	MYO3A_uc009xko.1_Silent_p.A799A|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	799	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.042373	-16.329052	10.203672	5	113	KEEP	---	---	---	---	capture		Silent	SNP	26432511	26432511	10471	10	C	T	T	T	262	21	MYO3A	2	2
ARHGAP12	94134	broad.mit.edu	37	10	32097632	32097632	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:32097632G>C	uc001ivz.1	-	c.2311C>G	c.(2311-2313)CAG>GAG	p.Q771E	ARHGAP12_uc001ivy.1_Missense_Mutation_p.Q717E|ARHGAP12_uc009xls.2_Missense_Mutation_p.Q722E|ARHGAP12_uc001iwb.1_Missense_Mutation_p.Q764E|ARHGAP12_uc001iwc.1_Missense_Mutation_p.Q739E|ARHGAP12_uc009xlq.1_Missense_Mutation_p.Q692E|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_Missense_Mutation_p.Q70E	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	771	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)												0.09058	22.76364	69.410893	25	251	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32097632	32097632	876	10	G	C	C	C	624	48	ARHGAP12	3	3
AKR1E2	83592	broad.mit.edu	37	10	4889419	4889419	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:4889419C>T	uc001ihi.2	+	c.917C>T	c.(916-918)CCC>CTC	p.P306L	AKR1E2_uc001ihl.1_Intron|AKR1E2_uc001ihh.1_Missense_Mutation_p.P249L|AKR1E2_uc009xhw.2_Missense_Mutation_p.P208L|AKR1E2_uc001ihj.2_Non-coding_Transcript|AKR1E2_uc001ihk.2_Missense_Mutation_p.P249L	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	306					oxidation-reduction process	cytoplasm	1,5-anhydro-D-fructose reductase activity				0						NSCLC(43;343 1097 20371 28813 45509)								0.059649	-21.681791	36.062216	17	268	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4889419	4889419	477	10	C	T	T	T	286	22	AKR1E2	2	2
PCDH15	65217	broad.mit.edu	37	10	55582806	55582806	+	Silent	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55582806A>G	uc010qhy.1	-	c.4701T>C	c.(4699-4701)AGT>AGC	p.S1567S	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.S1557S|PCDH15_uc010qhw.1_Silent_p.S1520S|PCDH15_uc010qhx.1_Silent_p.S1491S|PCDH15_uc010qhz.1_Silent_p.S1562S|PCDH15_uc010qia.1_Silent_p.S1540S|PCDH15_uc001jju.1_Silent_p.S1560S|PCDH15_uc010qib.1_Silent_p.S1537S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1560	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.098039	28.257831	69.422443	25	230	KEEP	---	---	---	---	capture		Silent	SNP	55582806	55582806	11931	10	A	G	G	G	180	14	PCDH15	4	4
FAM13C	220965	broad.mit.edu	37	10	61014147	61014147	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61014147G>C	uc010qif.1	-	c.1359C>G	c.(1357-1359)ATC>ATG	p.I453M	FAM13C_uc001jkn.2_Missense_Mutation_p.I431M|FAM13C_uc001jko.2_Missense_Mutation_p.I333M|FAM13C_uc010qid.1_Missense_Mutation_p.I348M|FAM13C_uc010qie.1_Missense_Mutation_p.I348M|FAM13C_uc001jkp.2_Missense_Mutation_p.I348M	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	431										ovary(1)	1														0.066667	-8.742931	105.111137	39	546	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61014147	61014147	5651	10	G	C	C	C	577	45	FAM13C	3	3
ARID5B	84159	broad.mit.edu	37	10	63852413	63852413	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:63852413G>C	uc001jlt.1	+	c.3191G>C	c.(3190-3192)GGC>GCC	p.G1064A		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1064					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			ovary(2)|kidney(1)	3	Prostate(12;0.016)|all_hematologic(501;0.215)													0.07438	-1.304556	21.200082	9	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63852413	63852413	937	10	G	C	C	C	546	42	ARID5B	3	3
JMJD1C	221037	broad.mit.edu	37	10	64953137	64953137	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64953137C>T	uc001jmn.2	-	c.5830G>A	c.(5830-5832)GGA>AGA	p.G1944R	JMJD1C_uc001jml.2_Missense_Mutation_p.G1725R|JMJD1C_uc001jmm.2_Missense_Mutation_p.G1656R|JMJD1C_uc010qiq.1_Missense_Mutation_p.G1762R|JMJD1C_uc009xpi.2_Missense_Mutation_p.G1762R|JMJD1C_uc009xpj.1_Non-coding_Transcript|JMJD1C_uc001jmo.2_5'Flank|JMJD1C_uc009xpk.1_Missense_Mutation_p.G842R	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1944					blood coagulation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.095238	1.266587	8.178477	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64953137	64953137	8254	10	C	T	T	T	273	21	JMJD1C	2	2
DDIT4	54541	broad.mit.edu	37	10	74034654	74034654	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:74034654A>G	uc001jsx.1	+	c.407A>G	c.(406-408)TAC>TGC	p.Y136C		NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	RTP801	136					apoptosis					pancreas(1)	1												OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.333333	8.625893	8.845356	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74034654	74034654	4502	10	A	G	G	G	182	14	DDIT4	4	4
ITIH5	80760	broad.mit.edu	37	10	7697622	7697622	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7697622G>A	uc001ijq.2	-	c.107C>T	c.(106-108)CCG>CTG	p.P36L	ITIH5_uc001ijr.1_Missense_Mutation_p.P36L	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	36	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.073529	-0.274217	12.431092	5	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7697622	7697622	8211	10	G	A	A	A	507	39	ITIH5	1	1
LRIT2	340745	broad.mit.edu	37	10	85981770	85981770	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85981770G>A	uc010qmc.1	-	c.1589C>T	c.(1588-1590)TCC>TTC	p.S530F	LRIT2_uc001kcy.2_Missense_Mutation_p.S520F	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	520						integral to membrane				ovary(2)	2														0.097826	7.757644	37.483073	18	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85981770	85981770	9321	10	G	A	A	A	533	41	LRIT2	2	2
SLC16A12	387700	broad.mit.edu	37	10	91195875	91195875	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:91195875C>T	uc001kgm.2	-	c.1140G>A	c.(1138-1140)GCG>GCA	p.A380A	SLC16A12_uc001kgl.2_Silent_p.A52A	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	solute carrier family 16 (monocarboxylic acid	380	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity				0														0.1	1.780962	9.742484	5	45	KEEP	---	---	---	---	capture		Silent	SNP	91195875	91195875	14901	10	C	T	T	T	340	27	SLC16A12	1	1
TNKS2	80351	broad.mit.edu	37	10	93596694	93596694	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:93596694A>T	uc001khp.2	+	c.1466A>T	c.(1465-1467)AAT>ATT	p.N489I		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	489					positive regulation of telomere maintenance via telomerase|protein ADP-ribosylation|protein localization to chromosome, telomeric region	Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity			kidney(3)|skin(2)|ovary(1)|lung(1)	7		Colorectal(252;0.162)								718				0.101266	5.843683	18.374575	8	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93596694	93596694	16862	10	A	T	T	T	52	4	TNKS2	3	3
MYOF	26509	broad.mit.edu	37	10	95069778	95069778	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95069778G>T	uc001kin.2	-	c.6146C>A	c.(6145-6147)CCG>CAG	p.P2049Q	MYOF_uc001kio.2_Missense_Mutation_p.P2036Q|MYOF_uc009xue.2_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	2049	Extracellular (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.093023	2.615389	9.736354	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95069778	95069778	10484	10	G	T	T	T	507	39	MYOF	1	1
TCTN3	26123	broad.mit.edu	37	10	97440280	97440280	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97440280C>A	uc001klb.3	-	c.1539G>T	c.(1537-1539)CCG>CCT	p.P513P	TCTN3_uc001kla.3_Silent_p.P357P|TCTN3_uc010qoi.1_Silent_p.P365P	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	tectonic 3 isoform a precursor	513	Extracellular (Potential).				apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)										0.083004	5.473711	50.114397	21	232	KEEP	---	---	---	---	capture		Silent	SNP	97440280	97440280	16250	10	C	A	A	A	340	27	TCTN3	1	1
GOLGA7B	401647	broad.mit.edu	37	10	99619326	99619326	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99619326G>C	uc001kos.2	+	c.124G>C	c.(124-126)GAG>CAG	p.E42Q		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	golgi autoantigen, golgin subfamily a, 7B	42						Golgi membrane					0														0.084746	-0.553144	10.069148	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99619326	99619326	6835	10	G	C	C	C	429	33	GOLGA7B	3	3
KIAA1377	57562	broad.mit.edu	37	11	101833557	101833557	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101833557G>T	uc001pgm.2	+	c.1791G>T	c.(1789-1791)CAG>CAT	p.Q597H	KIAA1377_uc001pgn.2_Missense_Mutation_p.Q553H|KIAA1377_uc010run.1_Missense_Mutation_p.Q398H|KIAA1377_uc009yxa.1_Missense_Mutation_p.Q398H	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	597							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)										0.165468	40.739632	55.500246	23	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101833557	101833557	8536	11	G	T	T	T	425	33	KIAA1377	2	2
MUC6	4588	broad.mit.edu	37	11	1019491	1019491	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1019491G>T	uc001lsw.2	-	c.3814C>A	c.(3814-3816)CCT>ACT	p.P1272T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1272	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.212121	18.134404	20.642114	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1019491	1019491	10374	11	G	T	T	T	572	44	MUC6	2	2
GUCY1A2	2977	broad.mit.edu	37	11	106647225	106647225	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:106647225C>A	uc009yxn.1	-	c.1776G>T	c.(1774-1776)ATG>ATT	p.M592I	GUCY1A2_uc001pjg.1_Missense_Mutation_p.M592I|GUCY1A2_uc010rvo.1_Missense_Mutation_p.M613I	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	592	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|pancreas(2)|ovary(1)	6		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)						248				0.243902	24.828053	27.280126	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106647225	106647225	7173	11	C	A	A	A	273	21	GUCY1A2	2	2
MLL	4297	broad.mit.edu	37	11	118376154	118376154	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118376154C>A	uc001ptb.2	+	c.9547C>A	c.(9547-9549)CCT>ACT	p.P3183T	MLL_uc001pta.2_Missense_Mutation_p.P3180T	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3180					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)						723				0.168675	65.774678	91.702558	42	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118376154	118376154	10010	11	C	A	A	A	390	30	MLL	2	2
BSX	390259	broad.mit.edu	37	11	122850098	122850098	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122850098G>T	uc010rzs.1	-	c.330C>A	c.(328-330)CGC>CGA	p.R110R		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	110	Homeobox.						transcription regulator activity				0		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)										0.210526	23.159812	27.591311	12	45	KEEP	---	---	---	---	capture		Silent	SNP	122850098	122850098	1567	11	G	T	T	T	535	42	BSX	2	2
OR10G8	219869	broad.mit.edu	37	11	123900935	123900935	+	Silent	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123900935T>G	uc001pzp.1	+	c.606T>G	c.(604-606)GTT>GTG	p.V202V		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)										0.080972	7.530592	51.700076	20	227	KEEP	---	---	---	---	capture		Silent	SNP	123900935	123900935	11309	11	T	G	G	G	808	63	OR10G8	4	4
OR8G2	26492	broad.mit.edu	37	11	124095447	124095447	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124095447G>T	uc010saf.1	+	c.50G>T	c.(49-51)GGA>GTA	p.G17V		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	olfactory receptor, family 8, subfamily G,	17						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)										0.169231	16.487026	23.222705	11	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124095447	124095447	11646	11	G	T	T	T	533	41	OR8G2	2	2
PATE1	160065	broad.mit.edu	37	11	125616206	125616206	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125616206A>T	uc001qct.2	+	c.7A>T	c.(7-9)AAG>TAG	p.K3*	PATE1_uc009zbr.2_Nonsense_Mutation_p.K3*	NM_138294	NP_612151	Q8WXA2	PATE1_HUMAN	expressed in prostate and testis precursor	3						extracellular region					0														0.162637	140.697367	189.902004	74	381	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125616206	125616206	11890	11	A	T	T	T	65	5	PATE1	5	3
SNX19	399979	broad.mit.edu	37	11	130785061	130785061	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:130785061G>A	uc001qgk.3	-	c.774C>T	c.(772-774)GAC>GAT	p.D258D	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.D258D|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	258	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)						728				0.095238	7.897568	35.503726	16	152	KEEP	---	---	---	---	capture		Silent	SNP	130785061	130785061	15390	11	G	A	A	A	464	36	SNX19	2	2
NCAPD3	23310	broad.mit.edu	37	11	134072754	134072754	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:134072754C>A	uc001qhd.1	-	c.1572G>T	c.(1570-1572)GGG>GGT	p.G524G	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	524					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|lung(1)|kidney(1)	4	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)						861				0.084848	0.068184	28.889831	14	151	KEEP	---	---	---	---	capture		Silent	SNP	134072754	134072754	10605	11	C	A	A	A	275	22	NCAPD3	2	2
MRGPRX4	117196	broad.mit.edu	37	11	18195254	18195254	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18195254C>A	uc001mnv.1	+	c.451C>A	c.(451-453)CTG>ATG	p.L151M		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	151	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.081545	-1.166207	40.40044	19	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18195254	18195254	10162	11	C	A	A	A	311	24	MRGPRX4	2	2
ANO5	203859	broad.mit.edu	37	11	22272495	22272495	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22272495A>T	uc001mqi.2	+	c.1120_splice	c.e12-2	p.F374_splice	ANO5_uc001mqj.2_Splice_Site_SNP_p.F373_splice	NM_213599	NP_998764			anoctamin 5 isoform a							chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4														0.107143	8.311953	21.180109	9	75	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	22272495	22272495	708	11	A	T	T	T	91	7	ANO5	5	3
ANO3	63982	broad.mit.edu	37	11	26664852	26664852	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26664852G>T	uc001mqt.3	+	c.2399G>T	c.(2398-2400)AGG>ATG	p.R800M	ANO3_uc010rdr.1_Missense_Mutation_p.R784M|ANO3_uc010rds.1_Missense_Mutation_p.R639M|ANO3_uc010rdt.1_Missense_Mutation_p.R654M	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	800	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.136752	21.102046	36.105033	16	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26664852	26664852	706	11	G	T	T	T	455	35	ANO3	2	2
KIF18A	81930	broad.mit.edu	37	11	28113014	28113014	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:28113014A>T	uc001msc.2	-	c.530T>A	c.(529-531)CTT>CAT	p.L177H		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	177	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2														0.045593	-43.057509	29.511445	15	314	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28113014	28113014	8591	11	A	T	T	T	39	3	KIF18A	3	3
OR52B4	143496	broad.mit.edu	37	11	4388801	4388801	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4388801G>A	uc010qye.1	-	c.725C>T	c.(724-726)ACA>ATA	p.T242I		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.092199	6.329305	53.56673	26	256	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4388801	4388801	11522	11	G	A	A	A	624	48	OR52B4	2	2
OR52B4	143496	broad.mit.edu	37	11	4389218	4389218	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4389218A>T	uc010qye.1	-	c.308T>A	c.(307-309)CTC>CAC	p.L103H		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.060241	-14.591371	19.024295	10	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4389218	4389218	11522	11	A	T	T	T	143	11	OR52B4	3	3
MADD	8567	broad.mit.edu	37	11	47304430	47304430	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47304430A>G	uc001ner.1	+	c.1772A>G	c.(1771-1773)CAC>CGC	p.H591R	MADD_uc001neq.2_Missense_Mutation_p.H591R|MADD_uc001nev.1_Missense_Mutation_p.H591R|MADD_uc001nes.1_Missense_Mutation_p.H591R|MADD_uc001net.1_Missense_Mutation_p.H591R|MADD_uc009yln.1_Missense_Mutation_p.H591R|MADD_uc001neu.1_Missense_Mutation_p.H591R|MADD_uc001nex.2_Missense_Mutation_p.H591R|MADD_uc001nez.2_Missense_Mutation_p.H591R|MADD_uc001new.2_Missense_Mutation_p.H591R	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	591					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(3)|central_nervous_system(2)	10				Lung(87;0.182)						5				0.132075	10.1929	17.159718	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47304430	47304430	9529	11	A	G	G	G	78	6	MADD	4	4
CELF1	10658	broad.mit.edu	37	11	47498401	47498401	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47498401C>A	uc001nfp.2	-	c.1084G>T	c.(1084-1086)GCA>TCA	p.A362S	CELF1_uc001nfl.2_Missense_Mutation_p.A334S|CELF1_uc001nfm.2_Missense_Mutation_p.A331S|CELF1_uc001nfn.2_Missense_Mutation_p.A330S|CELF1_uc001nfo.1_Missense_Mutation_p.A360S|CELF1_uc010rhm.1_Missense_Mutation_p.A333S|CELF1_uc001nfq.1_Missense_Mutation_p.A334S|CELF1_uc001nfr.1_Missense_Mutation_p.A334S	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	334					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						Pancreas(163;1949 1966 9906 43218 43785)								0.097222	4.286337	15.973285	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47498401	47498401	3348	11	C	A	A	A	338	26	CELF1	2	2
TRIM48	79097	broad.mit.edu	37	11	55032389	55032389	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55032389G>A	uc010rid.1	+	c.58G>A	c.(58-60)GGA>AGA	p.G20R		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	4						intracellular	zinc ion binding				0														0.037383	-34.179022	15.407411	8	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55032389	55032389	17068	11	G	A	A	A	611	47	TRIM48	2	2
OR4C6	219432	broad.mit.edu	37	11	55433325	55433325	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55433325C>A	uc001nht.3	+	c.683C>A	c.(682-684)TCT>TAT	p.S228Y	OR4C6_uc010rik.1_Missense_Mutation_p.S228Y	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.111984	42.767642	118.605091	57	452	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55433325	55433325	11459	11	C	A	A	A	416	32	OR4C6	2	2
OR5D14	219436	broad.mit.edu	37	11	55563767	55563767	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563767C>T	uc010rim.1	+	c.736C>T	c.(736-738)CAC>TAC	p.H246Y		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.142857	14.275772	23.742383	11	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55563767	55563767	11565	11	C	T	T	T	273	21	OR5D14	2	2
OR5L2	26338	broad.mit.edu	37	11	55595398	55595398	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55595398A>T	uc001nhy.1	+	c.704A>T	c.(703-705)CAC>CTC	p.H235L		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.144876	62.499061	96.858103	41	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55595398	55595398	11581	11	A	T	T	T	78	6	OR5L2	3	3
OR8I2	120586	broad.mit.edu	37	11	55861056	55861056	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55861056C>A	uc010rix.1	+	c.273C>A	c.(271-273)TCC>TCA	p.S91S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)													0.105455	22.064947	64.632498	29	246	KEEP	---	---	---	---	capture		Silent	SNP	55861056	55861056	11651	11	C	A	A	A	262	21	OR8I2	2	2
OR8H2	390151	broad.mit.edu	37	11	55872529	55872529	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55872529G>T	uc010riy.1	+	c.11G>T	c.(10-12)AGA>ATA	p.R4I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.068421	-32.559546	77.294977	39	531	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55872529	55872529	11649	11	G	T	T	T	429	33	OR8H2	2	2
OR5AP2	338675	broad.mit.edu	37	11	56409618	56409618	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56409618A>T	uc001njb.1	-	c.298T>A	c.(298-300)TTT>ATT	p.F100I		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3														0.196429	44.285093	53.905444	22	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56409618	56409618	11554	11	A	T	T	T	13	1	OR5AP2	3	3
TRIM5	85363	broad.mit.edu	37	11	5699520	5699520	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5699520C>G	uc001mbm.1	-	c.658G>C	c.(658-660)GAG>CAG	p.E220Q	TRIM5_uc001mbq.1_Missense_Mutation_p.E220Q|TRIM5_uc001mbl.1_Non-coding_Transcript|TRIM5_uc001mbn.2_Missense_Mutation_p.E220Q|TRIM5_uc001mbo.2_Missense_Mutation_p.E220Q|TRIM5_uc001mbp.2_Missense_Mutation_p.E220Q	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	220	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)										0.092857	13.365711	36.712541	13	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5699520	5699520	17071	11	C	G	G	G	377	29	TRIM5	3	3
GLYAT	10249	broad.mit.edu	37	11	58478151	58478151	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58478151A>G	uc001nnb.2	-	c.400T>C	c.(400-402)TAT>CAT	p.Y134H	GLYAT_uc001nnc.2_Missense_Mutation_p.Y134H	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	134					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)					191				0.115207	34.161617	65.804366	25	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58478151	58478151	6747	11	A	G	G	G	195	15	GLYAT	4	4
DAGLA	747	broad.mit.edu	37	11	61502411	61502411	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61502411G>A	uc001nsa.2	+	c.1065G>A	c.(1063-1065)CGG>CGA	p.R355R		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	355	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)										0.14966	32.037966	49.278909	22	125	KEEP	---	---	---	---	capture		Silent	SNP	61502411	61502411	4393	11	G	A	A	A	535	42	DAGLA	2	2
AHNAK	79026	broad.mit.edu	37	11	62284652	62284652	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62284652G>A	uc001ntl.2	-	c.17237C>T	c.(17236-17238)TCA>TTA	p.S5746L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5746					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.069182	-11.188826	19.35885	11	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62284652	62284652	417	11	G	A	A	A	585	45	AHNAK	2	2
SLC22A10	387775	broad.mit.edu	37	11	63057976	63057976	+	Silent	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63057976A>T	uc009yor.2	+	c.339A>T	c.(337-339)ACA>ACT	p.T113T	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.T61T	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	113	Extracellular (Potential).				transmembrane transport	integral to membrane	transporter activity			ovary(2)	2														0.049751	-22.217931	21.042458	10	191	KEEP	---	---	---	---	capture		Silent	SNP	63057976	63057976	14937	11	A	T	T	T	80	7	SLC22A10	3	3
C2CD3	26005	broad.mit.edu	37	11	73850838	73850838	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73850838G>A	uc001ouu.2	-	c.519C>T	c.(517-519)TAC>TAT	p.Y173Y	C2CD3_uc001ouv.2_Silent_p.Y173Y	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	173										ovary(3)|pancreas(2)	5	Breast(11;4.16e-06)													0.047904	-21.428111	14.886717	8	159	KEEP	---	---	---	---	capture		Silent	SNP	73850838	73850838	2237	11	G	A	A	A	516	40	C2CD3	1	1
RPL27A	6157	broad.mit.edu	37	11	8706410	8706410	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:8706410G>T	uc001mgs.3	+	c.289G>T	c.(289-291)GCT>TCT	p.A97S	SNORA45_uc001mgr.1_5'Flank	NM_000990	NP_000981	P46776	RL27A_HUMAN	ribosomal protein L27a	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.04	-28.576221	11.338858	7	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8706410	8706410	14055	11	G	T	T	T	546	42	RPL27A	2	2
GRM5	2915	broad.mit.edu	37	11	88301013	88301013	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88301013G>C	uc001pcq.2	-	c.1838C>G	c.(1837-1839)TCA>TGA	p.S613*	GRM5_uc009yvm.2_Nonsense_Mutation_p.S613*	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	613	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(1)	5		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)									0.07483	4.112567	31.37252	11	136	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88301013	88301013	7079	11	G	C	C	C	585	45	GRM5	5	3
FAT3	120114	broad.mit.edu	37	11	92523332	92523332	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92523332C>A	uc001pdj.3	+	c.4559C>A	c.(4558-4560)ACT>AAT	p.T1520N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1520	Cadherin 14.|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)			0.167702	105.945845	139.639701	54	268	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92523332	92523332	5927	11	C	A	A	A	260	20	FAT3	2	2
GOLGA2B	55592	broad.mit.edu	37	12	100551026	100551026	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100551026T>G	uc001tgs.2	-	c.299A>C	c.(298-300)CAT>CCT	p.H100P	GOLGA2B_uc001tgt.2_Non-coding_Transcript|GOLGA2B_uc001tgu.2_Missense_Mutation_p.H100P	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0														0.06383	-1.410757	7.887541	3	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100551026	100551026	6822	12	T	G	G	G	663	51	GOLGA2B	4	4
STAB2	55576	broad.mit.edu	37	12	104099498	104099498	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104099498C>A	uc001tjw.2	+	c.3989C>A	c.(3988-3990)ACC>AAC	p.T1330N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1330	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.189189	42.107046	52.142578	21	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104099498	104099498	15756	12	C	A	A	A	234	18	STAB2	2	2
TCP11L2	255394	broad.mit.edu	37	12	106715430	106715430	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106715430G>C	uc001tln.2	+	c.581G>C	c.(580-582)CGA>CCA	p.R194P	TCP11L2_uc001tll.2_Missense_Mutation_p.R194P|TCP11L2_uc001tlm.2_Missense_Mutation_p.R194P	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	194										ovary(2)	2														0.06087	-5.368162	17.789764	7	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106715430	106715430	16241	12	G	C	C	C	481	37	TCP11L2	3	3
BTBD11	121551	broad.mit.edu	37	12	107914306	107914306	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:107914306C>A	uc001tmk.1	+	c.1178C>A	c.(1177-1179)CCA>CAA	p.P393Q	BTBD11_uc009zut.1_Missense_Mutation_p.P393Q|BTBD11_uc001tmj.2_Missense_Mutation_p.P393Q	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	393						integral to membrane	DNA binding			ovary(1)	1														0.153509	56.66146	82.783296	35	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107914306	107914306	1571	12	C	A	A	A	273	21	BTBD11	2	2
ATP2A2	488	broad.mit.edu	37	12	110764236	110764236	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:110764236G>A	uc001tqk.3	+	c.586G>A	c.(586-588)GAC>AAC	p.D196N	ATP2A2_uc001tql.3_Missense_Mutation_p.D196N|ATP2A2_uc010sxy.1_Missense_Mutation_p.D169N	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	196	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)	3														0.066667	-2.108175	6.647381	3	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110764236	110764236	1156	12	G	A	A	A	585	45	ATP2A2	2	2
ATP2A2	488	broad.mit.edu	37	12	110777088	110777088	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:110777088C>T	uc001tqk.3	+	c.1422C>T	c.(1420-1422)GTC>GTT	p.V474V	ATP2A2_uc001tql.3_Silent_p.V474V|ATP2A2_uc010sxy.1_Silent_p.V447V	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	474	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)	3														0.195402	33.070257	40.676929	17	70	KEEP	---	---	---	---	capture		Silent	SNP	110777088	110777088	1156	12	C	T	T	T	366	29	ATP2A2	2	2
CUX2	23316	broad.mit.edu	37	12	111786100	111786100	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111786100C>A	uc001tsa.1	+	c.4432C>A	c.(4432-4434)CGG>AGG	p.R1478R		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1478						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4														0.098039	3.536634	11.785779	5	46	KEEP	---	---	---	---	capture		Silent	SNP	111786100	111786100	4225	12	C	A	A	A	399	31	CUX2	1	1
C12orf51	283450	broad.mit.edu	37	12	112701973	112701973	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112701973T>A	uc009zwc.2	-	c.1367A>T	c.(1366-1368)CAC>CTC	p.H456L	C12orf51_uc010syk.1_Missense_Mutation_p.H279L|C12orf51_uc001tts.2_Missense_Mutation_p.H279L|C12orf51_uc001ttt.3_Missense_Mutation_p.H279L	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.142857	5.612042	8.191878	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112701973	112701973	1740	12	T	A	A	A	767	59	C12orf51	3	3
RBM19	9904	broad.mit.edu	37	12	114395746	114395746	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114395746C>G	uc009zwi.2	-	c.681G>C	c.(679-681)GAG>GAC	p.E227D	RBM19_uc001tvn.3_Missense_Mutation_p.E227D|RBM19_uc001tvm.2_Missense_Mutation_p.E227D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	227	Poly-Glu.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(2)|ovary(1)|liver(1)|central_nervous_system(1)	5	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.038095	-32.742065	15.676576	8	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114395746	114395746	13582	12	C	G	G	G	311	24	RBM19	3	3
TBX3	6926	broad.mit.edu	37	12	115120697	115120698	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:115120697_115120698GG>TT	uc001tvt.1	-	c.308_309CC>AA	c.(307-309)CCC>CAA	p.P103Q	TBX3_uc001tvu.1_Missense_Mutation_p.P103Q|TBX3_uc010syw.1_Missense_Mutation_p.P103Q	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	103					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	general transcriptional repressor activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(2)	2	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)										0.16	30.078524	41.053785	16	84	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	115120697	115120698	16185	12	GG	TT	TT	TT	600	47	TBX3	2	2
CCDC60	160777	broad.mit.edu	37	12	119966424	119966424	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:119966424C>A	uc001txe.2	+	c.1234C>A	c.(1234-1236)CAA>AAA	p.Q412K		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	412										ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)										0.184655	290.823492	362.550277	142	627	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119966424	119966424	2954	12	C	A	A	A	273	21	CCDC60	2	2
UBC	7316	broad.mit.edu	37	12	125397084	125397084	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:125397084C>T	uc001ugs.3	-	c.1234G>A	c.(1234-1236)GAC>AAC	p.D412N	UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Intron|UBC_uc001ugt.2_Intron|UBC_uc001ugv.2_Intron	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	412	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)										0.045918	-26.4806	16.662568	9	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125397084	125397084	17399	12	C	T	T	T	416	32	UBC	2	2
UBC	7316	broad.mit.edu	37	12	125397091	125397091	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:125397091C>G	uc001ugs.3	-	c.1227G>C	c.(1225-1227)AAG>AAC	p.K409N	UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Intron|UBC_uc001ugt.2_Intron|UBC_uc001ugv.2_Intron	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	409	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)										0.047619	-21.029648	24.718734	10	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125397091	125397091	17399	12	C	G	G	G	415	32	UBC	3	3
TMEM132B	114795	broad.mit.edu	37	12	126128651	126128651	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:126128651G>T	uc001uhe.1	+	c.1452G>T	c.(1450-1452)GTG>GTT	p.V484V	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	484	Extracellular (Potential).					integral to membrane				ovary(5)|large_intestine(1)|breast(1)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)										0.140845	15.301155	24.141549	10	61	KEEP	---	---	---	---	capture		Silent	SNP	126128651	126128651	16577	12	G	T	T	T	574	45	TMEM132B	2	2
TMEM132D	121256	broad.mit.edu	37	12	129559150	129559150	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129559150G>T	uc009zyl.1	-	c.2570C>A	c.(2569-2571)ACA>AAA	p.T857K	TMEM132D_uc001uia.2_Missense_Mutation_p.T395K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	857	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.085106	1.832309	18.241494	8	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129559150	129559150	16579	12	G	T	T	T	624	48	TMEM132D	2	2
PUS1	80324	broad.mit.edu	37	12	132426187	132426187	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132426187G>A	uc001ujf.2	+	c.895G>A	c.(895-897)GGC>AGC	p.G299S	PUS1_uc001ujg.2_Missense_Mutation_p.G271S|PUS1_uc001ujh.2_Missense_Mutation_p.G271S|PUS1_uc001uji.2_Missense_Mutation_p.G246S	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	299						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		Esophageal Squamous(102;671 2009 17384 45666)								0.195652	39.688353	47.656652	18	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132426187	132426187	13288	12	G	A	A	A	507	39	PUS1	1	1
LST-3TM12	338821	broad.mit.edu	37	12	21201840	21201840	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21201840G>T	uc010sim.1	+	c.1330G>T	c.(1330-1332)GGA>TGA	p.G444*	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sin.1_Nonsense_Mutation_p.G397*	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	397						membrane	transporter activity				0														0.141176	16.834382	27.408121	12	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21201840	21201840	9442	12	G	T	T	T	611	47	LST-3TM12	5	2
KCNJ8	3764	broad.mit.edu	37	12	21926239	21926239	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21926239G>A	uc001rff.2	-	c.312C>T	c.(310-312)TAC>TAT	p.Y104Y		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	104	Extracellular (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)							OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.46379	864.821376	865.55908	301	348	KEEP	---	---	---	---	capture		Silent	SNP	21926239	21926239	8361	12	G	A	A	A	620	48	KCNJ8	2	2
CACNA1C	775	broad.mit.edu	37	12	2714278	2714278	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2714278C>T	uc009zdu.1	+	c.3052C>T	c.(3052-3054)CGA>TGA	p.R1018*	CACNA1C_uc009zdv.1_Nonsense_Mutation_p.R995*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qkc.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.R998*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.R998*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.R1018*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.R1018*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.R998*|CACNA1C_uc001qka.1_Nonsense_Mutation_p.R533*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.R734*|CACNA1C_uc001qkj.1_Nonsense_Mutation_p.R734*|CACNA1C_uc001qkk.1_Nonsense_Mutation_p.R734*|CACNA1C_uc001qkm.1_Nonsense_Mutation_p.R734*	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1018	III.|Helical; Name=S4 of repeat III; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.101523	12.881992	43.981292	20	177	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2714278	2714278	2656	12	C	T	T	T	347	27	CACNA1C	5	1
DENND5B	160518	broad.mit.edu	37	12	31605212	31605212	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31605212C>T	uc001rkh.1	-	c.1396G>A	c.(1396-1398)GAC>AAC	p.D466N	DENND5B_uc001rki.1_Missense_Mutation_p.D431N|DENND5B_uc009zjq.1_Missense_Mutation_p.D350N|DENND5B_uc001rkj.2_Missense_Mutation_p.D453N|DENND5B_uc001rkk.1_Missense_Mutation_p.D353N	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	431						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.110092	17.765649	50.59465	24	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31605212	31605212	4616	12	C	T	T	T	377	29	DENND5B	2	2
C12orf40	283461	broad.mit.edu	37	12	40044092	40044092	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40044092C>A	uc001rmc.2	+	c.622C>A	c.(622-624)CAA>AAA	p.Q208K	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	208										ovary(6)	6														0.129032	4.175208	8.335002	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40044092	40044092	1730	12	C	A	A	A	377	29	C12orf40	2	2
LRRK2	120892	broad.mit.edu	37	12	40745422	40745422	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40745422A>T	uc001rmg.3	+	c.6463A>T	c.(6463-6465)ATG>TTG	p.M2155L	LRRK2_uc009zjw.2_Missense_Mutation_p.M993L|LRRK2_uc001rmi.2_Missense_Mutation_p.M988L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2155					activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771				0.1625	27.631898	36.287718	13	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40745422	40745422	9409	12	A	T	T	T	104	8	LRRK2	3	3
CNTN1	1272	broad.mit.edu	37	12	41421699	41421699	+	Silent	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41421699T>A	uc001rmm.1	+	c.2751T>A	c.(2749-2751)TCT>TCA	p.S917S	CNTN1_uc001rmn.1_Silent_p.S906S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	917	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.039106	-25.934196	15.112988	7	172	KEEP	---	---	---	---	capture		Silent	SNP	41421699	41421699	3778	12	T	A	A	A	704	55	CNTN1	3	3
PRICKLE1	144165	broad.mit.edu	37	12	42858653	42858653	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:42858653C>T	uc010skv.1	-	c.1183G>A	c.(1183-1185)GGC>AGC	p.G395S	PRICKLE1_uc001rnl.2_Missense_Mutation_p.G395S|PRICKLE1_uc010skw.1_Missense_Mutation_p.G395S|PRICKLE1_uc001rnm.2_Missense_Mutation_p.G395S	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	395					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination	cytosol|nuclear membrane	zinc ion binding			ovary(3)	3	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)										0.072727	-0.646144	9.684876	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42858653	42858653	12929	12	C	T	T	T	312	24	PRICKLE1	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43896100	43896101	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43896100_43896101GG>AT	uc010skx.1	-	c.721_722CC>AT	c.(721-723)CCA>ATA	p.P241I		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	241						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.053435	-15.190099	12.395594	7	124	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	43896100	43896101	267	12	GG	AT	AT	AT	611	47	ADAMTS20	2	2
KIAA0748	9840	broad.mit.edu	37	12	55356979	55356979	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55356979A>T	uc001sgn.3	-	c.703T>A	c.(703-705)TTC>ATC	p.F235I	KIAA0748_uc001sgl.3_Missense_Mutation_p.F97I|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_Missense_Mutation_p.F97I|KIAA0748_uc010spd.1_Missense_Mutation_p.F235I|KIAA0748_uc001sgo.3_Non-coding_Transcript	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	235										ovary(1)|central_nervous_system(1)	2														0.214286	36.999088	43.337556	18	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55356979	55356979	8497	12	A	T	T	T	39	3	KIAA0748	3	3
PA2G4	5036	broad.mit.edu	37	12	56500854	56500854	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56500854C>T	uc001sjm.2	+	c.298C>T	c.(298-300)CTC>TTC	p.L100F	PA2G4_uc009zol.2_Missense_Mutation_p.L100F|PA2G4_uc009zom.2_Missense_Mutation_p.L100F	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	100					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)											0.056	-13.390786	12.564435	7	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56500854	56500854	11774	12	C	T	T	T	416	32	PA2G4	2	2
PA2G4	5036	broad.mit.edu	37	12	56500856	56500856	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56500856C>T	uc001sjm.2	+	c.300C>T	c.(298-300)CTC>CTT	p.L100L	PA2G4_uc009zol.2_Silent_p.L100L|PA2G4_uc009zom.2_Silent_p.L100L	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	100					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)											0.056911	-15.224874	10.400304	7	116	KEEP	---	---	---	---	capture		Silent	SNP	56500856	56500856	11774	12	C	T	T	T	366	29	PA2G4	2	2
RDH16	8608	broad.mit.edu	37	12	57351181	57351181	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57351181C>T	uc001smi.3	-	c.66G>A	c.(64-66)CAG>CAA	p.Q22Q	RDH16_uc009zpa.2_5'UTR|RDH16_uc010sqx.1_Non-coding_Transcript	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	22	Cytoplasmic (Potential).				lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						GBM(179;741 2921 43105 45298)								0.193548	56.729519	67.595812	24	100	KEEP	---	---	---	---	capture		Silent	SNP	57351181	57351181	13663	12	C	T	T	T	311	24	RDH16	2	2
MBD6	114785	broad.mit.edu	37	12	57919610	57919610	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57919610C>G	uc001soj.1	+	c.859C>G	c.(859-861)CAG>GAG	p.Q287E	MBD6_uc001sok.1_Missense_Mutation_p.Q154E|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	287	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4														0.111111	9.309708	17.383101	6	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57919610	57919610	9736	12	C	G	G	G	377	29	MBD6	3	3
ANO2	57101	broad.mit.edu	37	12	6030514	6030514	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6030514C>T	uc001qnm.2	-	c.214G>A	c.(214-216)GAT>AAT	p.D72N		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	76	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.063694	-9.303824	21.725281	10	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6030514	6030514	705	12	C	T	T	T	390	30	ANO2	2	2
CPM	1368	broad.mit.edu	37	12	69265736	69265736	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:69265736T>A	uc001sup.2	-	c.259A>T	c.(259-261)ACT>TCT	p.T87S	CPM_uc001sur.2_Missense_Mutation_p.T87S|CPM_uc001suq.2_Missense_Mutation_p.T87S	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	87					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)											0.298507	99.242811	104.108972	40	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69265736	69265736	3946	12	T	A	A	A	754	58	CPM	3	3
LRRC10	376132	broad.mit.edu	37	12	70004207	70004207	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70004207C>A	uc001svc.2	-	c.412G>T	c.(412-414)GAT>TAT	p.D138Y		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	138	LRR 4.					nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)											0.133333	6.036056	11.903524	6	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70004207	70004207	9340	12	C	A	A	A	390	30	LRRC10	2	2
PTPRB	5787	broad.mit.edu	37	12	71016238	71016238	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71016238T>A	uc001swc.3	-	c.640A>T	c.(640-642)ATG>TTG	p.M214L	PTPRB_uc001swa.3_Missense_Mutation_p.M214L|PTPRB_uc001swd.3_Missense_Mutation_p.M213L|PTPRB_uc009zrr.1_Missense_Mutation_p.M93L|PTPRB_uc001swe.2_Missense_Mutation_p.M214L	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	Error:Variant_position_missing_in_P23467_after_alignment					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)											0.206897	69.793348	81.335414	30	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71016238	71016238	13253	12	T	A	A	A	663	51	PTPRB	3	3
TRHDE	29953	broad.mit.edu	37	12	72956678	72956678	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72956678G>C	uc001sxa.2	+	c.1765G>C	c.(1765-1767)GAT>CAT	p.D589H		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	589	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)	2														0.04918	-16.865819	22.615911	9	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72956678	72956678	17023	12	G	C	C	C	533	41	TRHDE	3	3
NAV3	89795	broad.mit.edu	37	12	78401054	78401054	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78401054G>T	uc001syp.2	+	c.1736G>T	c.(1735-1737)TGT>TTT	p.C579F	NAV3_uc001syo.2_Missense_Mutation_p.C579F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	579						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.204082	90.608118	106.524347	40	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78401054	78401054	10581	12	G	T	T	T	624	48	NAV3	2	2
ALX1	8092	broad.mit.edu	37	12	85694976	85694976	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85694976T>A	uc001tae.3	+	c.704T>A	c.(703-705)GTG>GAG	p.V235E		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	235					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)										0.035156	-43.523011	16.626813	9	247	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85694976	85694976	559	12	T	A	A	A	767	59	ALX1	3	3
CLEC4D	338339	broad.mit.edu	37	12	8670788	8670788	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8670788G>C	uc001qun.2	+	c.150G>C	c.(148-150)AAG>AAC	p.K50N		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	50	Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)													0.189189	18.60191	21.946274	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8670788	8670788	3652	12	G	C	C	C	425	33	CLEC4D	3	3
C12orf12	196477	broad.mit.edu	37	12	91348302	91348303	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91348302_91348303GG>TT	uc001tbj.2	-	c.217_218CC>AA	c.(217-219)CCG>AAG	p.P73K		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	73										central_nervous_system(1)|pancreas(1)	2														0.266667	22.388773	23.862644	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	91348302	91348303	1720	12	GG	TT	TT	TT	507	39	C12orf12	1	1
FGD6	55785	broad.mit.edu	37	12	95483427	95483427	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:95483427G>C	uc001tdp.3	-	c.3896C>G	c.(3895-3897)TCT>TGT	p.S1299C	FGD6_uc009zsx.2_Missense_Mutation_p.S432C|FGD6_uc001tdq.1_Missense_Mutation_p.S335C	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1299					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(2)|breast(1)	3														0.068966	-4.916239	34.089738	14	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95483427	95483427	6074	12	G	C	C	C	429	33	FGD6	3	3
CDK17	5128	broad.mit.edu	37	12	96704920	96704920	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:96704920G>T	uc001tep.1	-	c.453C>A	c.(451-453)ATC>ATA	p.I151I	CDK17_uc009ztk.2_Silent_p.I151I|CDK17_uc010svb.1_Silent_p.I98I	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	151					protein phosphorylation		ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7										253				0.251852	81.181431	88.736315	34	101	KEEP	---	---	---	---	capture		Silent	SNP	96704920	96704920	3262	12	G	T	T	T	577	45	CDK17	2	2
KLRB1	3820	broad.mit.edu	37	12	9751094	9751094	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9751094C>T	uc010sgt.1	-	c.414_splice	c.e4+1	p.L138_splice		NM_002258	NP_002249			killer cell lectin-like receptor subfamily B,						cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0														0.215311	99.259569	114.897751	45	164	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	9751094	9751094	8728	12	C	T	T	T	234	18	KLRB1	5	2
WNK1	65125	broad.mit.edu	37	12	991215	991215	+	Silent	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:991215A>T	uc001qio.3	+	c.3348A>T	c.(3346-3348)TCA>TCT	p.S1116S	WNK1_uc001qip.3_Silent_p.S869S|WNK1_uc001qir.3_Silent_p.S289S	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1116					intracellular protein kinase cascade|ion transport|neuron development|protein phosphorylation	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			ovary(5)|breast(4)|large_intestine(1)|lung(1)|central_nervous_system(1)	12	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			Colon(19;451 567 6672 12618 28860)				913				0.166667	5.514286	7.410617	3	15	KEEP	---	---	---	---	capture		Silent	SNP	991215	991215	17951	12	A	T	T	T	67	6	WNK1	3	3
NALCN	259232	broad.mit.edu	37	13	101762987	101762987	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101762987C>T	uc001vox.1	-	c.2347G>A	c.(2347-2349)GAA>AAA	p.E783K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	783	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.056738	-26.433899	31.772416	16	266	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101762987	101762987	10544	13	C	T	T	T	377	29	NALCN	2	2
MYO16	23026	broad.mit.edu	37	13	109817277	109817277	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109817277C>G	uc010agk.1	+	c.5193C>G	c.(5191-5193)AGC>AGG	p.S1731R	MYO16_uc001vqt.1_Missense_Mutation_p.S1709R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1709					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.090909	3.866638	11.288224	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109817277	109817277	10459	13	C	G	G	G	337	26	MYO16	3	3
CUL4A	8451	broad.mit.edu	37	13	113907476	113907476	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113907476G>T	uc010tjy.1	+	c.1719G>T	c.(1717-1719)TTG>TTT	p.L573F	CUL4A_uc010tjx.1_Missense_Mutation_p.L473F|CUL4A_uc010agu.2_Missense_Mutation_p.L434F|CUL4A_uc010tjz.1_Missense_Mutation_p.L252F	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	573					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)											0.170732	57.940458	74.721664	28	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113907476	113907476	4217	13	G	T	T	T	607	47	CUL4A	2	2
SKA3	221150	broad.mit.edu	37	13	21742500	21742500	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:21742500A>T	uc001unt.2	-	c.370T>A	c.(370-372)TCT>ACT	p.S124T	SKA3_uc001unv.2_Missense_Mutation_p.S42T|SKA3_uc001unu.2_Missense_Mutation_p.S124T	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	124					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0														0.1125	8.82216	20.681356	9	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21742500	21742500	14849	13	A	T	T	T	130	10	SKA3	3	3
FLT1	2321	broad.mit.edu	37	13	29001430	29001430	+	Silent	SNP	G	T	T	rs61763178	by1000genomes	TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29001430G>T	uc001usb.3	-	c.1302C>A	c.(1300-1302)GCC>GCA	p.A434A	FLT1_uc010aar.1_Silent_p.A434A|FLT1_uc001usc.3_Silent_p.A434A|FLT1_uc010tdp.1_Silent_p.A434A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	434	Ig-like C2-type 5.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)				p.A434A(EB2-Tumor)|p.A434A(MDAPCA2B-Tumor)	738				0.050505	-10.530128	10.596683	5	94	KEEP	---	---	---	---	capture		Silent	SNP	29001430	29001430	6183	13	G	T	T	T	496	39	FLT1	1	1
FOXO1	2308	broad.mit.edu	37	13	41134738	41134738	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:41134738G>T	uc001uxl.3	-	c.890C>A	c.(889-891)GCA>GAA	p.A297E	FOXO1_uc010acc.1_Missense_Mutation_p.A112E	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	297					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|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		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|central_nervous_system(1)	947		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)						55				0.088496	2.893214	22.20691	10	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41134738	41134738	6269	13	G	T	T	T	598	46	FOXO1	2	2
ATP7B	540	broad.mit.edu	37	13	52548394	52548394	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52548394C>T	uc001vfw.2	-	c.962G>A	c.(961-963)GGG>GAG	p.G321E	ATP7B_uc010adv.2_Missense_Mutation_p.G321E|ATP7B_uc001vfx.2_Missense_Mutation_p.G321E|ATP7B_uc001vfy.2_Intron|ATP7B_uc010tgt.1_Missense_Mutation_p.G321E|ATP7B_uc010tgu.1_Missense_Mutation_p.G321E|ATP7B_uc010tgv.1_Missense_Mutation_p.G321E|ATP7B_uc010tgw.1_Missense_Mutation_p.G289E	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	321	HMA 3.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										0.130435	22.864438	38.128116	15	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52548394	52548394	1210	13	C	T	T	T	286	22	ATP7B	2	2
ATP7B	540	broad.mit.edu	37	13	52548417	52548417	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52548417C>G	uc001vfw.2	-	c.939G>C	c.(937-939)AGG>AGC	p.R313S	ATP7B_uc010adv.2_Missense_Mutation_p.R313S|ATP7B_uc001vfx.2_Missense_Mutation_p.R313S|ATP7B_uc001vfy.2_Intron|ATP7B_uc010tgt.1_Missense_Mutation_p.R313S|ATP7B_uc010tgu.1_Missense_Mutation_p.R313S|ATP7B_uc010tgv.1_Missense_Mutation_p.R313S|ATP7B_uc010tgw.1_Missense_Mutation_p.R281S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	313	HMA 3.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										0.064	-8.124534	16.527243	8	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52548417	52548417	1210	13	C	G	G	G	285	22	ATP7B	3	3
LECT1	11061	broad.mit.edu	37	13	53277900	53277900	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53277900C>T	uc001vhf.2	-	c.835G>A	c.(835-837)GAA>AAA	p.E279K	LECT1_uc001vhg.2_Missense_Mutation_p.E278K|LECT1_uc001vhh.2_Missense_Mutation_p.E268K	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	279					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(1)	1		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)										0.04902	-11.503532	10.526365	5	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53277900	53277900	9036	13	C	T	T	T	403	31	LECT1	1	1
OLFM4	10562	broad.mit.edu	37	13	53603113	53603113	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53603113T>A	uc001vhl.2	+	c.142T>A	c.(142-144)TCC>ACC	p.S48T	OLFM4_uc001vhk.1_Missense_Mutation_p.S48T	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	48	Ser-rich.				cell adhesion	extracellular space					0		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)						717				0.111111	11.129985	31.338757	15	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53603113	53603113	11260	13	T	A	A	A	702	54	OLFM4	3	3
PCDH17	27253	broad.mit.edu	37	13	58240938	58240938	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58240938C>T	uc001vhq.1	+	c.2768C>T	c.(2767-2769)ACT>ATT	p.T923I	PCDH17_uc010aec.1_Missense_Mutation_p.T922I|PCDH17_uc001vhr.1_Missense_Mutation_p.T12I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	923	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.046875	-14.591082	13.354836	6	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58240938	58240938	11932	13	C	T	T	T	260	20	PCDH17	2	2
PCDH17	27253	broad.mit.edu	37	13	58299211	58299211	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58299211C>G	uc001vhq.1	+	c.3263C>G	c.(3262-3264)CCT>CGT	p.P1088R	PCDH17_uc010aec.1_Missense_Mutation_p.P1087R|PCDH17_uc001vhr.1_Missense_Mutation_p.P177R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1088	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.120603	28.911552	56.956555	24	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58299211	58299211	11932	13	C	G	G	G	312	24	PCDH17	3	3
KLHL1	57626	broad.mit.edu	37	13	70681450	70681450	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70681450C>A	uc001vip.2	-	c.382G>T	c.(382-384)GAG>TAG	p.E128*	KLHL1_uc010thm.1_Nonsense_Mutation_p.E128*|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	128					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.148148	20.112634	32.984421	16	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70681450	70681450	8677	13	C	A	A	A	390	30	KLHL1	5	2
DACH1	1602	broad.mit.edu	37	13	72063200	72063200	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:72063200G>A	uc010thn.1	-	c.1651C>T	c.(1651-1653)CCA>TCA	p.P551S	DACH1_uc010tho.1_Missense_Mutation_p.P403S|DACH1_uc010thp.1_Missense_Mutation_p.P349S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	603					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)						202				0.165775	232.937604	312.23555	124	624	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72063200	72063200	4386	13	G	A	A	A	533	41	DACH1	2	2
TBC1D4	9882	broad.mit.edu	37	13	75886873	75886873	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:75886873C>G	uc001vjl.1	-	c.2383_splice	c.e13+1	p.D795_splice	TBC1D4_uc010tht.1_Splice_Site_SNP_p.D5_splice|TBC1D4_uc010thu.1_Splice_Site_SNP_p.D5_splice|TBC1D4_uc010aer.2_Splice_Site_SNP_p.D787_splice|TBC1D4_uc010aes.2_Splice_Site_SNP_p.D732_splice	NM_014832	NP_055647			TBC1 domain family, member 4							cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)	5		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)										0.045872	-11.11894	12.874725	5	104	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	75886873	75886873	16148	13	C	G	G	G	234	18	TBC1D4	5	3
SLITRK5	26050	broad.mit.edu	37	13	88329956	88329956	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:88329956C>A	uc001vln.2	+	c.2313C>A	c.(2311-2313)AAC>AAA	p.N771K	SLITRK5_uc010tic.1_Missense_Mutation_p.N530K	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	771	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.178295	40.9383	53.544502	23	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88329956	88329956	15244	13	C	A	A	A	259	20	SLITRK5	2	2
UGGT2	55757	broad.mit.edu	37	13	96505871	96505871	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:96505871C>A	uc001vmt.2	-	c.4210G>T	c.(4210-4212)GGA>TGA	p.G1404*	UGGT2_uc001vms.2_Nonsense_Mutation_p.G124*	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1404	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3														0.191781	57.812407	70.77351	28	118	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	96505871	96505871	17500	13	C	A	A	A	273	21	UGGT2	5	2
OR11H4	390442	broad.mit.edu	37	14	20711551	20711551	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20711551C>A	uc010tld.1	+	c.601C>A	c.(601-603)CCA>ACA	p.P201T		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	201	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)										0.168776	69.179377	93.786522	40	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20711551	20711551	11334	14	C	A	A	A	286	22	OR11H4	2	2
CMA1	1215	broad.mit.edu	37	14	24977420	24977420	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24977420G>T	uc001wpp.1	-	c.22C>A	c.(22-24)CTG>ATG	p.L8M	CMA1_uc010alx.1_De_novo_Start_OutOfFrame	NM_001836	NP_001827	P23946	CMA1_HUMAN	chymase 1, mast cell preproprotein	8					interleukin-1 beta biosynthetic process|proteolysis|regulation of inflammatory response	extracellular region	serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.0271)										0.045113	-17.642261	11.753352	6	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24977420	24977420	3712	14	G	T	T	T	451	35	CMA1	2	2
PRKD1	5587	broad.mit.edu	37	14	30108094	30108094	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30108094T>G	uc001wqh.2	-	c.713A>C	c.(712-714)GAG>GCG	p.E238A		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	238					cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)						428				0.065217	-8.765164	18.525374	9	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30108094	30108094	12961	14	T	G	G	G	702	54	PRKD1	4	4
LRFN5	145581	broad.mit.edu	37	14	42356224	42356224	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42356224C>A	uc001wvm.2	+	c.396C>A	c.(394-396)AAC>AAA	p.N132K	LRFN5_uc010ana.2_Missense_Mutation_p.N132K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	132	Extracellular (Potential).|LRR 4.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.06	-6.530547	13.710407	6	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42356224	42356224	9314	14	C	A	A	A	220	17	LRFN5	2	2
FANCM	57697	broad.mit.edu	37	14	45645649	45645649	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45645649C>T	uc001wwd.3	+	c.3692C>T	c.(3691-3693)ACC>ATC	p.T1231I	FANCM_uc010anf.2_Missense_Mutation_p.T1205I|FANCM_uc001wwe.3_Missense_Mutation_p.T767I|FANCM_uc010ang.2_Missense_Mutation_p.T445I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1231					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.135135	13.696954	23.249777	10	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45645649	45645649	5907	14	C	T	T	T	234	18	FANCM	2	2
MDGA2	161357	broad.mit.edu	37	14	47343335	47343335	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47343335C>A	uc001wwj.3	-	c.2299G>T	c.(2299-2301)GAC>TAC	p.D767Y	MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.D538Y|MDGA2_uc010ani.2_Missense_Mutation_p.D327Y	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	767	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.070796	-3.8964	17.575557	8	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47343335	47343335	9796	14	C	A	A	A	377	29	MDGA2	2	2
ZFYVE1	53349	broad.mit.edu	37	14	73490891	73490891	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:73490891G>A	uc001xnm.2	-	c.326C>T	c.(325-327)TCT>TTT	p.S109F	ZFYVE1_uc010arj.2_Missense_Mutation_p.S109F	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	109						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding				0		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)										0.048544	-22.832249	21.807707	10	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73490891	73490891	18253	14	G	A	A	A	429	33	ZFYVE1	2	2
LTBP2	4053	broad.mit.edu	37	14	74999205	74999205	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74999205A>T	uc001xqa.2	-	c.1911T>A	c.(1909-1911)TGT>TGA	p.C637*		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	637	EGF-like 3; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)										0.095238	1.672014	8.575964	4	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	74999205	74999205	9450	14	A	T	T	T	76	6	LTBP2	5	3
NGB	58157	broad.mit.edu	37	14	77734877	77734877	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77734877G>T	uc001xtg.1	-	c.253C>A	c.(253-255)CTG>ATG	p.L85M		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	neuroglobin	85	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)										0.153846	32.427125	48.874577	22	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77734877	77734877	10792	14	G	T	T	T	464	36	NGB	2	2
KCNK13	56659	broad.mit.edu	37	14	90651009	90651009	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90651009G>T	uc001xye.1	+	c.889G>T	c.(889-891)GGG>TGG	p.G297W		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		all_cancers(154;0.186)												0.134615	20.664273	34.179026	14	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90651009	90651009	8366	14	G	T	T	T	507	39	KCNK13	1	1
SLC24A4	123041	broad.mit.edu	37	14	92908474	92908475	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:92908474_92908475GG>TT	uc001yak.2	+	c.384_385GG>TT	c.(382-387)ATGGCT>ATTTCT	p.128_129MA>IS	SLC24A4_uc001yai.2_Missense_Mutation_p.81_82MA>IS|SLC24A4_uc010twm.1_Missense_Mutation_p.145_146MA>IS|SLC24A4_uc001yaj.2_Missense_Mutation_p.128_129MA>IS|SLC24A4_uc010auj.2_Missense_Mutation_p.36_37MA>IS|SLC24A4_uc010twn.1_5'Flank	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	128_129	Alpha-1.|Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		NSCLC(10;315 435 10383 28450 38798)								0.064935	-3.690701	11.455575	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	92908474	92908475	14965	14	GG	TT	TT	TT	611	47	SLC24A4	2	2
KIAA1409	57578	broad.mit.edu	37	14	94041498	94041498	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94041498G>A	uc001ybv.1	+	c.1634G>A	c.(1633-1635)AGA>AAA	p.R545K	KIAA1409_uc001ybs.1_Missense_Mutation_p.R545K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	722						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.106667	12.862695	35.998776	16	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94041498	94041498	8539	14	G	A	A	A	429	33	KIAA1409	2	2
C15orf2	23742	broad.mit.edu	37	15	24922552	24922552	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24922552G>C	uc001ywo.2	+	c.1538G>C	c.(1537-1539)AGG>ACG	p.R513T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	513	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.186475	195.930659	240.88826	91	397	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24922552	24922552	1834	15	G	C	C	C	455	35	C15orf2	3	3
HERC2	8924	broad.mit.edu	37	15	28544618	28544618	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28544618C>A	uc001zbj.2	-	c.117G>T	c.(115-117)ATG>ATT	p.M39I	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	39	WD 1.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.119403	20.597727	39.65546	16	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28544618	28544618	7341	15	C	A	A	A	273	21	HERC2	2	2
TJP1	7082	broad.mit.edu	37	15	30053914	30053914	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:30053914C>A	uc010azl.2	-	c.716G>T	c.(715-717)AGG>ATG	p.R239M	TJP1_uc001zcq.2_Missense_Mutation_p.R255M|TJP1_uc001zcr.2_Missense_Mutation_p.R251M|TJP1_uc001zcs.2_Missense_Mutation_p.R251M	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	251	PDZ 2.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|pancreas(1)	5		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		Melanoma(77;681 1843 6309 6570)								0.153846	11.265502	17.22797	8	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30053914	30053914	16458	15	C	A	A	A	312	24	TJP1	2	2
RYR3	6263	broad.mit.edu	37	15	33954735	33954735	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33954735C>A	uc001zhi.2	+	c.5004C>A	c.(5002-5004)TCC>TCA	p.S1668S	RYR3_uc010bar.2_Silent_p.S1668S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1668	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.15625	16.328492	23.706689	10	54	KEEP	---	---	---	---	capture		Silent	SNP	33954735	33954735	14250	15	C	A	A	A	262	21	RYR3	2	2
C15orf24	56851	broad.mit.edu	37	15	34382622	34382622	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34382622C>G	uc001zhm.2	-	c.391G>C	c.(391-393)GTT>CTT	p.V131L	C15orf24_uc001zhn.2_Missense_Mutation_p.V14L	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	chromosome 15 open reading frame 24 precursor	131	Extracellular (Potential).					cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding				0		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)										0.154472	37.020816	50.999386	19	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34382622	34382622	1836	15	C	G	G	G	234	18	C15orf24	3	3
ACTC1	70	broad.mit.edu	37	15	35086895	35086895	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35086895G>A	uc001ziu.1	-	c.115C>T	c.(115-117)CGC>TGC	p.R39C		NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	39					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			ovary(1)	1		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)										0.148148	6.486969	9.693445	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35086895	35086895	196	15	G	A	A	A	507	39	ACTC1	1	1
AQR	9716	broad.mit.edu	37	15	35196688	35196688	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35196688T>A	uc001ziv.2	-	c.1850A>T	c.(1849-1851)AAT>ATT	p.N617I		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	617					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)										0.0875	3.725088	31.272183	14	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35196688	35196688	846	15	T	A	A	A	676	52	AQR	3	3
DUOXA1	90527	broad.mit.edu	37	15	45412317	45412317	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45412317C>A	uc001zup.2	-	c.756G>T	c.(754-756)TGG>TGT	p.W252C	DUOXA1_uc010uem.1_Missense_Mutation_p.W207C|DUOXA1_uc010bec.2_Missense_Mutation_p.W252C|DUOXA1_uc001zuq.1_Missense_Mutation_p.W252C|DUOXA1_uc001zur.1_Missense_Mutation_p.W207C|DUOXA1_uc010bed.1_Missense_Mutation_p.W207C	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Numb-interacting protein	252	Helical; (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)										0.148	47.438479	77.183391	37	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45412317	45412317	4987	15	C	A	A	A	390	30	DUOXA1	2	2
UACA	55075	broad.mit.edu	37	15	70959204	70959204	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:70959204A>T	uc002asr.2	-	c.3819T>A	c.(3817-3819)GAT>GAA	p.D1273E	UACA_uc010uke.1_Missense_Mutation_p.D1164E|UACA_uc002asq.2_Missense_Mutation_p.D1260E|UACA_uc010bin.1_Missense_Mutation_p.D1248E	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	1273	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)	3														0.138	117.657931	181.006318	69	431	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70959204	70959204	17381	15	A	T	T	T	102	8	UACA	3	3
IL16	3603	broad.mit.edu	37	15	81585315	81585315	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81585315G>C	uc010unp.1	+	c.1965G>C	c.(1963-1965)AAG>AAC	p.K655N	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Intron|IL16_uc002bge.3_Non-coding_Transcript|IL16_uc002bgh.3_Missense_Mutation_p.K613N|IL16_uc002bgg.2_Missense_Mutation_p.K613N|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Missense_Mutation_p.K107N|IL16_uc002bgk.2_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	613					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4														0.166667	37.268796	46.747739	15	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81585315	81585315	7934	15	G	C	C	C	425	33	IL16	3	3
DET1	55070	broad.mit.edu	37	15	89074105	89074105	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89074105C>A	uc002bmq.2	-	c.865G>T	c.(865-867)GAC>TAC	p.D289Y	DET1_uc002bmp.3_Non-coding_Transcript|DET1_uc010bnk.2_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.D278Y	NM_017996	NP_060466	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 1	278						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)											0.170732	11.9977	16.204191	7	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89074105	89074105	4629	15	C	A	A	A	390	30	DET1	2	2
ACAN	176	broad.mit.edu	37	15	89400993	89400993	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89400993G>T	uc010upo.1	+	c.5177G>T	c.(5176-5178)AGT>ATT	p.S1726I	ACAN_uc010upp.1_Missense_Mutation_p.S1726I|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)											0.057377	-10.061776	15.008143	7	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89400993	89400993	118	15	G	T	T	T	468	36	ACAN	2	2
IFT140	9742	broad.mit.edu	37	16	1639764	1639764	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1639764C>T	uc002cmb.2	-	c.652G>A	c.(652-654)GAT>AAT	p.D218N		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	218										ovary(3)|pancreas(1)	4		Hepatocellular(780;0.219)												0.103774	9.260628	25.813321	11	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1639764	1639764	7857	16	C	T	T	T	390	30	IFT140	2	2
PDILT	204474	broad.mit.edu	37	16	20370859	20370859	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20370859C>G	uc002dhc.1	-	c.1537G>C	c.(1537-1539)GAA>CAA	p.E513Q		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	513					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1														0.076613	2.045429	47.555892	19	229	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20370859	20370859	12095	16	C	G	G	G	416	32	PDILT	3	3
ACSM1	116285	broad.mit.edu	37	16	20696552	20696552	+	Silent	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20696552A>G	uc002dhm.1	-	c.366T>C	c.(364-366)CCT>CCC	p.P122P	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.P122P	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	122					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)	1														0.08867	1.793212	36.51991	18	185	KEEP	---	---	---	---	capture		Silent	SNP	20696552	20696552	183	16	A	G	G	G	80	7	ACSM1	4	4
PGP	283871	broad.mit.edu	37	16	2264177	2264177	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2264177T>C	uc002cpk.1	-	c.602A>G	c.(601-603)GAC>GGC	p.D201G	PGP_uc010uvz.1_Non-coding_Transcript	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	201					carbohydrate metabolic process		phosphoglycolate phosphatase activity				0						GBM(63;906 1080 2092 17773 18795)								0.333333	6.449827	6.596518	2	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2264177	2264177	12225	16	T	C	C	C	754	58	PGP	4	4
ITGAL	3683	broad.mit.edu	37	16	30500667	30500667	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30500667G>T	uc002dyi.3	+	c.1173G>T	c.(1171-1173)GGG>GGT	p.G391G	ITGAL_uc002dyj.3_Silent_p.G308G|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	391	FG-GAP 4.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(1)	7					Efalizumab(DB00095)	NSCLC(110;1462 1641 3311 33990 49495)								0.157576	40.275027	58.709921	26	139	KEEP	---	---	---	---	capture		Silent	SNP	30500667	30500667	8190	16	G	T	T	T	522	41	ITGAL	2	2
PRSS36	146547	broad.mit.edu	37	16	31155149	31155149	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31155149C>A	uc002ebd.2	-	c.730G>T	c.(730-732)GGG>TGG	p.G244W	PRSS36_uc010vff.1_Missense_Mutation_p.G19W|PRSS36_uc010vfg.1_Missense_Mutation_p.G244W|PRSS36_uc010vfh.1_Missense_Mutation_p.G244W	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	244	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1														0.16	6.456092	9.152116	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31155149	31155149	13075	16	C	A	A	A	273	21	PRSS36	2	2
DNASE1	1773	broad.mit.edu	37	16	3706127	3706127	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3706127C>A	uc002cvr.2	+	c.261C>A	c.(259-261)TAC>TAA	p.Y87*		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	87					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)									0.25	31.67896	34.404727	12	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3706127	3706127	4843	16	C	A	A	A	246	19	DNASE1	5	1
ABCC11	85320	broad.mit.edu	37	16	48226495	48226495	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48226495G>T	uc002eff.1	-	c.2642C>A	c.(2641-2643)TCA>TAA	p.S881*	ABCC11_uc002efg.1_Nonsense_Mutation_p.S881*|ABCC11_uc002efh.1_Nonsense_Mutation_p.S881*|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	881	Helical; (Potential).|ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.236842	81.818444	91.444495	36	116	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48226495	48226495	52	16	G	T	T	T	585	45	ABCC11	5	2
CCL17	6361	broad.mit.edu	37	16	57448996	57448996	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57448996G>A	uc010ccz.1	+	c.161G>A	c.(160-162)CGA>CAA	p.R54Q	CCL17_uc002elj.1_Missense_Mutation_p.R25Q	NM_002987	NP_002978	Q92583	CCL17_HUMAN	small inducible cytokine A17 precursor	25					cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development	extracellular space	chemokine activity			ovary(1)	1														0.154696	47.738601	68.321939	28	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57448996	57448996	3013	16	G	A	A	A	481	37	CCL17	1	1
ZFP90	146198	broad.mit.edu	37	16	68598296	68598296	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68598296C>A	uc010cff.2	+	c.1606C>A	c.(1606-1608)CGA>AGA	p.R536R	ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Silent_p.R536R|ZFP90_uc002ewe.2_Silent_p.R536R	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	536	C2H2-type 10.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)										0.104895	10.4174	32.624487	15	128	KEEP	---	---	---	---	capture		Silent	SNP	68598296	68598296	18243	16	C	A	A	A	399	31	ZFP90	1	1
WWP2	11060	broad.mit.edu	37	16	69970320	69970320	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:69970320C>T	uc002exu.1	+	c.2082C>T	c.(2080-2082)ATC>ATT	p.I694I	WWP2_uc002exv.1_Silent_p.I694I|WWP2_uc010vlm.1_Silent_p.I578I|WWP2_uc010vln.1_Silent_p.I312I|WWP2_uc002exw.1_Silent_p.I255I	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	694	HECT.				entry of virus into host cell|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			skin(1)	1														0.1	2.029047	6.800995	3	27	KEEP	---	---	---	---	capture		Silent	SNP	69970320	69970320	17990	16	C	T	T	T	382	30	WWP2	2	2
ZNF23	7571	broad.mit.edu	37	16	71482972	71482972	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71482972A>T	uc002fai.2	-	c.1073T>A	c.(1072-1074)GTT>GAT	p.V358D	ZNF23_uc002fad.2_Missense_Mutation_p.V261D|ZNF23_uc002fae.2_Missense_Mutation_p.V261D|ZNF23_uc002faf.2_Missense_Mutation_p.V319D|ZNF23_uc010vmf.1_Missense_Mutation_p.V261D|ZNF23_uc002fag.2_Missense_Mutation_p.V261D|ZNF23_uc002fah.2_Missense_Mutation_p.V319D	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	319	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)										0.107692	18.935648	48.698275	21	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71482972	71482972	18374	16	A	T	T	T	26	2	ZNF23	3	3
CA5A	763	broad.mit.edu	37	16	87960443	87960443	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:87960443C>T	uc002fkn.1	-	c.251G>A	c.(250-252)AGG>AAG	p.R84K		NM_001739	NP_001730	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial precursor	84					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0513)										0.1875	7.115394	8.57844	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87960443	87960443	2635	16	C	T	T	T	312	24	CA5A	2	2
C16orf55	124045	broad.mit.edu	37	16	89735693	89735693	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89735693G>C	uc010vpk.1	+	c.212_splice	c.e3-1	p.E71_splice	C16orf55_uc002fnw.1_Splice_Site_SNP_p.E70_splice|C16orf55_uc002fny.1_Splice_Site_SNP	NM_153025	NP_694570			hypothetical protein LOC124045												0		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)										0.270833	36.975349	39.316159	13	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	89735693	89735693	1873	16	G	C	C	C	429	33	C16orf55	5	3
FANCA	2175	broad.mit.edu	37	16	89818612	89818612	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89818612G>A	uc002fou.1	-	c.3000C>T	c.(2998-3000)CAC>CAT	p.H1000H	FANCA_uc010vpn.1_Silent_p.H1000H|FANCA_uc010vpo.1_Silent_p.H86H	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1000					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)						1099				0.063745	-17.587464	32.01552	16	235	KEEP	---	---	---	---	capture		Silent	SNP	89818612	89818612	5898	16	G	A	A	A	464	36	FANCA	2	2
MYH1	4619	broad.mit.edu	37	17	10409183	10409183	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10409183C>A	uc002gmo.2	-	c.2120G>T	c.(2119-2121)CGC>CTC	p.R707L		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	707	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.04878	-8.857606	8.871587	4	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10409183	10409183	10424	17	C	A	A	A	351	27	MYH1	1	1
MYOCD	93649	broad.mit.edu	37	17	12666854	12666854	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12666854T>A	uc002gno.2	+	c.2854T>A	c.(2854-2856)TTT>ATT	p.F952I	MYOCD_uc002gnn.2_Missense_Mutation_p.F904I|MYOCD_uc002gnq.2_Missense_Mutation_p.F628I	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	myocardin isoform 1	904					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)										0.073394	-3.479308	16.909112	8	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12666854	12666854	10482	17	T	A	A	A	728	56	MYOCD	3	3
PRPF8	10594	broad.mit.edu	37	17	1584926	1584926	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:1584926G>A	uc002fte.2	-	c.712C>T	c.(712-714)CTC>TTC	p.L238F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	238					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			ovary(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)										0.077586	-4.750255	37.664837	18	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1584926	1584926	13018	17	G	A	A	A	429	33	PRPF8	2	2
TRPV2	51393	broad.mit.edu	37	17	16321065	16321065	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16321065G>T	uc002gpy.2	+	c.83G>T	c.(82-84)GGA>GTA	p.G28V	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	28	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)										0.160714	13.070258	19.188301	9	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16321065	16321065	17147	17	G	T	T	T	533	41	TRPV2	2	2
KIAA0100	9703	broad.mit.edu	37	17	26960922	26960922	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26960922C>A	uc002hbu.2	-	c.3253G>T	c.(3253-3255)GAC>TAC	p.D1085Y		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1085						extracellular region				ovary(2)|breast(1)	3	Lung NSC(42;0.00431)													0.081081	-1.193054	12.028327	6	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26960922	26960922	8461	17	C	A	A	A	377	29	KIAA0100	2	2
ACCN1	40	broad.mit.edu	37	17	31355401	31355401	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31355401G>T	uc002hht.2	-	c.997C>A	c.(997-999)CTG>ATG	p.L333M	ACCN1_uc002hhu.2_Missense_Mutation_p.L282M	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	282	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)									0.13253	15.186154	26.057077	11	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31355401	31355401	129	17	G	T	T	T	451	35	ACCN1	2	2
OR1E1	8387	broad.mit.edu	37	17	3301516	3301516	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3301516G>T	uc002fvj.1	-	c.189C>A	c.(187-189)CTC>CTA	p.L63L		NM_003553	NP_003544	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.050209	-29.914865	21.482537	12	227	KEEP	---	---	---	---	capture		Silent	SNP	3301516	3301516	11360	17	G	T	T	T	574	45	OR1E1	2	2
NLE1	54475	broad.mit.edu	37	17	33463193	33463193	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33463193C>A	uc002hiy.1	-	c.1006G>T	c.(1006-1008)GTG>TTG	p.V336L	NLE1_uc010ctn.1_Missense_Mutation_p.V44L|NLE1_uc002hiz.1_Missense_Mutation_p.V44L	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	336	WD 5.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)												0.09596	10.049426	42.461308	19	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33463193	33463193	10863	17	C	A	A	A	247	19	NLE1	1	1
WNK4	65266	broad.mit.edu	37	17	40948532	40948532	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40948532G>C	uc002ibj.2	+	c.3665G>C	c.(3664-3666)AGC>ACC	p.S1222T	WNK4_uc010wgx.1_Missense_Mutation_p.S886T|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1222					intracellular protein kinase cascade|protein phosphorylation	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		Esophageal Squamous(6;201 374 4964 23855 42828)				263				0.162162	11.648159	15.646794	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40948532	40948532	17954	17	G	C	C	C	442	34	WNK4	3	3
CDK5RAP3	80279	broad.mit.edu	37	17	46054172	46054172	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46054172C>T	uc010wlc.1	+	c.953C>T	c.(952-954)CCG>CTG	p.P318L	CDK5RAP3_uc002imq.1_Missense_Mutation_p.P73L|CDK5RAP3_uc002imr.2_Missense_Mutation_p.P298L|CDK5RAP3_uc002imu.2_Missense_Mutation_p.P142L|CDK5RAP3_uc002ims.2_Missense_Mutation_p.P211L|CDK5RAP3_uc002imv.2_Missense_Mutation_p.P142L|CDK5RAP3_uc002imw.2_Missense_Mutation_p.P142L|CDK5RAP3_uc002imx.2_Missense_Mutation_p.P73L	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	298					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0														0.073171	-3.072779	12.255223	6	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46054172	46054172	3276	17	C	T	T	T	299	23	CDK5RAP3	1	1
SKAP1	8631	broad.mit.edu	37	17	46259763	46259763	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46259763C>A	uc002ini.1	-	c.624G>T	c.(622-624)TTG>TTT	p.L208F	SKAP1_uc002inj.1_Missense_Mutation_p.L208F|SKAP1_uc010dbd.1_Missense_Mutation_p.L114F|SKAP1_uc010dbe.1_Missense_Mutation_p.L208F	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	208	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding|SH3/SH2 adaptor activity|transcription activator activity				0														0.115044	60.050987	125.990087	52	400	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46259763	46259763	14850	17	C	A	A	A	220	17	SKAP1	2	2
CACNA1G	8913	broad.mit.edu	37	17	48699064	48699064	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48699064T>C	uc002irk.1	+	c.5969T>C	c.(5968-5970)ATT>ACT	p.I1990T	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Intron|CACNA1G_uc002irq.1_Missense_Mutation_p.I1967T|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Missense_Mutation_p.I1919T|CACNA1G_uc002iru.1_Missense_Mutation_p.I1956T|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.I1892T|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1990	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)									0.176471	6.014625	7.691987	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48699064	48699064	2660	17	T	C	C	C	676	52	CACNA1G	4	4
ZNF594	84622	broad.mit.edu	37	17	5085319	5085319	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5085319C>A	uc010cla.1	-	c.2233G>T	c.(2233-2235)GAT>TAT	p.D745Y		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	745	C2H2-type 23; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.077994	-10.087411	55.215042	28	331	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5085319	5085319	18619	17	C	A	A	A	390	30	ZNF594	2	2
HLF	3131	broad.mit.edu	37	17	53398040	53398040	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:53398040G>T	uc002iug.1	+	c.688G>T	c.(688-690)GCA>TCA	p.A230S	HLF_uc010dce.1_Missense_Mutation_p.A145S|HLF_uc002iuh.2_Missense_Mutation_p.A145S|HLF_uc010wni.1_Missense_Mutation_p.A177S	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	230					multicellular organismal development|regulation of transcription, DNA-dependent|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2										60				0.136986	13.144795	22.420623	10	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53398040	53398040	7505	17	G	T	T	T	546	42	HLF	2	2
TEX14	56155	broad.mit.edu	37	17	56659003	56659003	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56659003G>A	uc010dcz.1	-	c.3278C>T	c.(3277-3279)TCC>TTC	p.S1093F	TEX14_uc002iwr.1_Missense_Mutation_p.S1087F|TEX14_uc002iws.1_Intron|TEX14_uc010dda.1_Intron	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1093					protein phosphorylation	cytoplasm	ATP binding|protein kinase activity			stomach(4)|ovary(3)|large_intestine(1)|lung(1)|skin(1)|pancreas(1)	11	Medulloblastoma(34;0.127)|all_neural(34;0.237)									598				0.072917	-1.943032	16.058821	7	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56659003	56659003	16305	17	G	A	A	A	533	41	TEX14	2	2
RGS9	8787	broad.mit.edu	37	17	63204048	63204048	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:63204048T>A	uc002jfe.2	+	c.1212T>A	c.(1210-1212)TAT>TAA	p.Y404*	RGS9_uc010dem.2_Nonsense_Mutation_p.Y401*|RGS9_uc002jfd.2_Nonsense_Mutation_p.Y401*|RGS9_uc002jff.2_Non-coding_Transcript|RGS9_uc002jfg.2_Nonsense_Mutation_p.Y175*	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	404	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)	2														0.209524	53.807573	61.995879	22	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	63204048	63204048	13787	17	T	A	A	A	660	51	RGS9	5	3
SLC25A19	60386	broad.mit.edu	37	17	73273565	73273565	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73273565C>G	uc002jns.3	-	c.644_splice	c.e5-1	p.E215_splice	SLC25A19_uc010dge.2_Splice_Site_SNP_p.E158_splice|SLC25A19_uc002jnv.3_Splice_Site_SNP_p.E215_splice|SLC25A19_uc002jnu.3_Splice_Site_SNP_p.E215_splice|SLC25A19_uc002jnw.3_Splice_Site_SNP_p.E215_splice|SLC25A19_uc002jnt.3_Splice_Site_SNP_p.E215_splice	NM_021734	NP_068380			solute carrier family 25, member 19							integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)											0.125	5.607378	8.904668	3	21	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	73273565	73273565	14978	17	C	G	G	G	416	32	SLC25A19	5	3
SHBG	6462	broad.mit.edu	37	17	7536069	7536069	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7536069G>A	uc002gie.2	+	c.853_splice	c.e7-1	p.K285_splice	SHBG_uc010cmo.2_Splice_Site_SNP_p.K173_splice|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Splice_Site_SNP_p.K227_splice|SHBG_uc010cmu.2_Intron|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Splice_Site_SNP_p.K227_splice|SHBG_uc002gid.3_Intron|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Splice_Site_SNP_p.K267_splice|SHBG_uc010vuf.1_Intron|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Intron	NM_001040	NP_001031			sex hormone-binding globulin isoform 1						hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)			0		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)							OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.059524	-5.576729	11.45843	5	79	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7536069	7536069	14761	17	G	A	A	A	429	33	SHBG	5	2
TP53	7157	broad.mit.edu	37	17	7577118	7577118	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577118C>A	uc002gim.2	-	c.820G>T	c.(820-822)GTT>TTT	p.V274F	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.V274F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V142F|TP53_uc010cng.1_Missense_Mutation_p.V142F|TP53_uc002gii.1_Missense_Mutation_p.V142F|TP53_uc010cnh.1_Missense_Mutation_p.V274F|TP53_uc010cni.1_Missense_Mutation_p.V274F|TP53_uc002gij.2_Missense_Mutation_p.V274F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	274	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.V274F(16)|p.V274L(9)|p.0?(6)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.V274F(DU145-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.155844	20.947375	29.658577	12	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577118	7577118	16923	17	C	A	A	A	221	17	TP53	2	2
SLC26A11	284129	broad.mit.edu	37	17	78225181	78225181	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78225181C>T	uc002jyb.1	+	c.1710C>T	c.(1708-1710)TTC>TTT	p.F570F	SLC26A11_uc002jyc.1_Silent_p.F570F|SLC26A11_uc002jyd.1_Silent_p.F570F|SLC26A11_uc010dhv.1_Silent_p.F570F	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	570	Extracellular (Potential).|STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)											0.144737	16.761079	26.017904	11	65	KEEP	---	---	---	---	capture		Silent	SNP	78225181	78225181	15013	17	C	T	T	T	415	32	SLC26A11	2	2
ALOX15B	247	broad.mit.edu	37	17	7950631	7950631	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7950631G>A	uc002gju.2	+	c.1513G>A	c.(1513-1515)GAC>AAC	p.D505N	ALOX15B_uc002gjv.2_Missense_Mutation_p.D476N|ALOX15B_uc002gjw.2_Intron|ALOX15B_uc010vun.1_Missense_Mutation_p.D493N|ALOX15B_uc010cnp.2_Missense_Mutation_p.D311N	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	505	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|oxidation-reduction process|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1														0.07362	-6.626658	23.843159	12	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7950631	7950631	542	17	G	A	A	A	585	45	ALOX15B	2	2
PIK3R5	23533	broad.mit.edu	37	17	8792182	8792182	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8792182C>T	uc002glt.2	-	c.922G>A	c.(922-924)GAA>AAA	p.E308K	PIK3R5_uc010vuz.1_Missense_Mutation_p.E308K|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.R256R|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	308				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				large_intestine(1)|central_nervous_system(1)	2						NSCLC(18;589 615 7696 20311 50332)								0.555556	15.776791	15.801225	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8792182	8792182	12346	17	C	T	T	T	390	30	PIK3R5	2	2
MC5R	4161	broad.mit.edu	37	18	13826533	13826533	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13826533C>T	uc010xaf.1	+	c.769C>T	c.(769-771)CAT>TAT	p.H257Y		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	257	Helical; Name=6; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)	3														0.210526	25.565524	29.987173	12	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13826533	13826533	9756	18	C	T	T	T	377	29	MC5R	2	2
MCART2	147407	broad.mit.edu	37	18	29340105	29340105	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29340105G>A	uc002kxa.2	-	c.520C>T	c.(520-522)CGA>TGA	p.R174*		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	174	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0			OV - Ovarian serous cystadenocarcinoma(10;0.0539)											0.166667	59.308983	78.216166	30	150	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29340105	29340105	9759	18	G	A	A	A	480	37	MCART2	5	1
LRRC30	339291	broad.mit.edu	37	18	7231728	7231728	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7231728C>T	uc010wzk.1	+	c.592C>T	c.(592-594)CTG>TTG	p.L198L		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	198	LRR 6.									ovary(1)|liver(1)	2														0.21519	40.428215	46.346503	17	62	KEEP	---	---	---	---	capture		Silent	SNP	7231728	7231728	9360	18	C	T	T	T	311	24	LRRC30	2	2
PTPRM	5797	broad.mit.edu	37	18	8394505	8394505	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:8394505G>T	uc010dkv.2	+	c.4240G>T	c.(4240-4242)GCC>TCC	p.A1414S	PTPRM_uc002knn.3_Missense_Mutation_p.A1401S|PTPRM_uc010wzl.1_Missense_Mutation_p.A1188S	NM_001105244	NP_001098714	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1401	Tyrosine-protein phosphatase 2.|Cytoplasmic (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)												0.204082	24.437697	28.408684	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8394505	8394505	13263	18	G	T	T	T	494	38	PTPRM	1	1
RAD23A	5886	broad.mit.edu	37	19	13063662	13063662	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13063662G>A	uc002mvw.1	+	c.973G>A	c.(973-975)GAG>AAG	p.E325K	RAD23A_uc002mvx.1_Intron|RAD23A_uc002mvz.1_Missense_Mutation_p.E324K|RAD23A_uc002mwa.1_Intron|RAD23A_uc002mvy.1_Missense_Mutation_p.E159K|RAD23A_uc010xmw.1_Missense_Mutation_p.E160K	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	325	UBA 2.|HIV-1 vpr binding.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1														0.077922	-1.014001	13.016391	6	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13063662	13063662	13442	19	G	A	A	A	429	33	RAD23A	2	2
PDE4C	5143	broad.mit.edu	37	19	18327622	18327622	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18327622C>T	uc010xqc.1	-	c.1414G>A	c.(1414-1416)GAG>AAG	p.E472K	PDE4C_uc002nik.3_Missense_Mutation_p.E472K|PDE4C_uc002nil.3_Missense_Mutation_p.E472K|PDE4C_uc002nif.3_Missense_Mutation_p.E241K|PDE4C_uc002nig.3_Missense_Mutation_p.E187K|PDE4C_uc002nih.3_Missense_Mutation_p.E242K|PDE4C_uc010ebk.2_Missense_Mutation_p.E366K|PDE4C_uc002nii.3_Missense_Mutation_p.E440K|PDE4C_uc010ebl.2_Missense_Mutation_p.E186K|PDE4C_uc010xqd.1_Missense_Mutation_p.E241K	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	472					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Dyphylline(DB00651)									0.122449	14.126074	27.812098	12	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18327622	18327622	12062	19	C	T	T	T	416	32	PDE4C	2	2
ZNF430	80264	broad.mit.edu	37	19	21239788	21239788	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21239788G>C	uc002npj.2	+	c.674G>C	c.(673-675)AGA>ACA	p.R225T	ZNF430_uc002npk.2_Missense_Mutation_p.R224T	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	225	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.15625	11.45338	15.063021	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21239788	21239788	18497	19	G	C	C	C	429	33	ZNF430	3	3
CELF5	60680	broad.mit.edu	37	19	3273874	3273874	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3273874C>T	uc002lxm.2	+	c.347C>T	c.(346-348)GCG>GTG	p.A116V	CELF5_uc002lxl.1_Missense_Mutation_p.A116V|CELF5_uc010dtj.1_Missense_Mutation_p.A116V|CELF5_uc010xhg.1_Missense_Mutation_p.A2V|CELF5_uc002lxn.2_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	116	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.15625	8.153413	11.764351	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3273874	3273874	3352	19	C	T	T	T	351	27	CELF5	1	1
WDR88	126248	broad.mit.edu	37	19	33628603	33628603	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33628603T>A	uc002nui.2	+	c.297T>A	c.(295-297)AGT>AGA	p.S99R		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	99										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)													0.338462	61.431707	62.930704	22	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33628603	33628603	17909	19	T	A	A	A	764	59	WDR88	3	3
GAPDHS	26330	broad.mit.edu	37	19	36035883	36035883	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36035883G>A	uc002oaf.1	+	c.1129G>A	c.(1129-1131)GAC>AAC	p.D377N	TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	377					gluconeogenesis|glycolysis|oxidation-reduction process|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)									0.044643	-15.222438	9.620617	5	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36035883	36035883	6501	19	G	A	A	A	585	45	GAPDHS	2	2
ZNF420	147923	broad.mit.edu	37	19	37618734	37618734	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37618734T>A	uc002ofl.2	+	c.841T>A	c.(841-843)TGT>AGT	p.C281S		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	281	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.061611	-12.28948	30.013906	13	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37618734	37618734	18490	19	T	A	A	A	663	51	ZNF420	3	3
RYR1	6261	broad.mit.edu	37	19	38976231	38976231	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38976231T>C	uc002oit.2	+	c.4936T>C	c.(4936-4938)TGC>CGC	p.C1646R	RYR1_uc002oiu.2_Missense_Mutation_p.C1646R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1646	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.059211	-12.735052	18.175602	9	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38976231	38976231	14248	19	T	C	C	C	767	59	RYR1	4	4
NCCRP1	342897	broad.mit.edu	37	19	39689847	39689847	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39689847G>A	uc002okq.1	+	c.490G>A	c.(490-492)GAG>AAG	p.E164K		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	164	FBA.				protein catabolic process					ovary(1)	1						Melanoma(107;1207 1556 14956 29427 52130)								0.065574	-3.711594	8.204165	4	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39689847	39689847	10612	19	G	A	A	A	481	37	NCCRP1	1	1
PSG3	5671	broad.mit.edu	37	19	43233370	43233370	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43233370T>A	uc010eil.2	-	c.1214A>T	c.(1213-1215)CAG>CTG	p.Q405L	PSG3_uc002ouf.2_Splice_Site_SNP|PSG1_uc002oug.1_Missense_Mutation_p.Q383L|PSG3_uc002oue.2_Missense_Mutation_p.Q383L	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	383	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.190821	179.301973	216.280425	79	335	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43233370	43233370	13109	19	T	A	A	A	715	55	PSG3	3	3
PSG7	5676	broad.mit.edu	37	19	43439716	43439716	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43439716T>A	uc002ovl.3	-	c.270A>T	c.(268-270)AAA>AAT	p.K90N	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	90	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.115584	88.128248	200.214571	89	681	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43439716	43439716	13113	19	T	A	A	A	673	52	PSG7	3	3
PSG6	5675	broad.mit.edu	37	19	43585123	43585123	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43585123G>A	uc002ovi.2	-	c.340C>T	c.(340-342)CGG>TGG	p.R114W	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.R114W|PSG2_uc002ovq.3_Missense_Mutation_p.R114W|PSG2_uc010eiq.1_Missense_Mutation_p.R114W|PSG2_uc002ovs.3_Missense_Mutation_p.R114W|PSG2_uc002ovt.3_Missense_Mutation_p.R114W	PSG6		Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	113	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00899)												0.04157	-65.537399	32.260067	18	415	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43585123	43585123	13112	19	G	A	A	A	506	39	PSG6	1	1
ZNF155	7711	broad.mit.edu	37	19	44496052	44496052	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44496052G>A	uc010xwt.1	+	c.234G>A	c.(232-234)ATG>ATA	p.M78I	ZNF155_uc002oxy.1_Missense_Mutation_p.M67I|ZNF155_uc002oxz.1_Missense_Mutation_p.M67I	NM_198089	NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	67	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				NSCLC(61;554 1277 20909 42067 42312)								0.046263	-36.547822	25.164852	13	268	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44496052	44496052	18327	19	G	A	A	A	585	45	ZNF155	2	2
ZNF229	7772	broad.mit.edu	37	19	44933575	44933575	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44933575A>T	uc002oze.1	-	c.1381T>A	c.(1381-1383)TAC>AAC	p.Y461N	ZNF229_uc010ejk.1_Missense_Mutation_p.Y115N|ZNF229_uc010ejl.1_Missense_Mutation_p.Y455N	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	461	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0352)												0.266055	73.530941	78.922325	29	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44933575	44933575	18373	19	A	T	T	T	195	15	ZNF229	3	3
FOSB	2354	broad.mit.edu	37	19	45976089	45976089	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45976089C>T	uc002pbx.3	+	c.836C>T	c.(835-837)TCT>TTT	p.S279F	ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Missense_Mutation_p.S204F|FOSB_uc002pby.3_Missense_Mutation_p.S243F|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Intron|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Missense_Mutation_p.S240F|FOSB_uc010ekd.1_Intron|FOSB_uc010ekg.2_Missense_Mutation_p.S136F|FOSB_uc002pca.3_Missense_Mutation_p.S230F	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	279					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)	2		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)										0.122807	6.587533	14.527766	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45976089	45976089	6228	19	C	T	T	T	416	32	FOSB	2	2
GPR4	2828	broad.mit.edu	37	19	46094980	46094980	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46094980G>T	uc002pcm.2	-	c.145C>A	c.(145-147)CGC>AGC	p.R49S	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	49	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		Esophageal Squamous(117;181 1612 1673 14956 42937)								0.087719	1.268805	11.036203	5	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46094980	46094980	6969	19	G	T	T	T	494	38	GPR4	1	1
DMPK	1760	broad.mit.edu	37	19	46280928	46280928	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46280928G>A	uc002pdi.1	-	c.957C>T	c.(955-957)TAC>TAT	p.Y319Y	DMPK_uc010xxs.1_Silent_p.Y204Y|DMPK_uc002pdd.1_Silent_p.Y303Y|DMPK_uc002pde.1_Silent_p.Y303Y|DMPK_uc002pdf.1_Silent_p.Y293Y|DMPK_uc002pdg.1_Silent_p.Y293Y|DMPK_uc002pdh.1_Silent_p.Y293Y|DMPK_uc010xxt.1_Silent_p.Y293Y	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	303	Protein kinase.				protein phosphorylation|regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		Esophageal Squamous(35;307 869 9153 24033 28903)				152				0.157895	11.736315	18.108069	9	48	KEEP	---	---	---	---	capture		Silent	SNP	46280928	46280928	4764	19	G	A	A	A	620	48	DMPK	2	2
ZNF528	84436	broad.mit.edu	37	19	52919516	52919516	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52919516G>T	uc002pzh.2	+	c.1411G>T	c.(1411-1413)GGC>TGC	p.G471C	ZNF528_uc002pzi.2_Missense_Mutation_p.G238C	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	471	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)										0.211538	48.386373	56.396584	22	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52919516	52919516	18563	19	G	T	T	T	611	47	ZNF528	2	2
ZNF347	84671	broad.mit.edu	37	19	53644588	53644588	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53644588G>C	uc010eql.1	-	c.1496C>G	c.(1495-1497)TCA>TGA	p.S499*	ZNF347_uc002qbb.1_Nonsense_Mutation_p.S498*|ZNF347_uc002qbc.1_Nonsense_Mutation_p.S499*	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	498	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		Melanoma(64;205 1597 17324 45721)								0.131356	59.969637	91.134481	31	205	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	53644588	53644588	18453	19	G	C	C	C	585	45	ZNF347	5	3
ZNF347	84671	broad.mit.edu	37	19	53644975	53644975	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53644975C>G	uc010eql.1	-	c.1109G>C	c.(1108-1110)GGA>GCA	p.G370A	ZNF347_uc002qbb.1_Missense_Mutation_p.G369A|ZNF347_uc002qbc.1_Missense_Mutation_p.G370A	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		Melanoma(64;205 1597 17324 45721)								0.033333	-28.650502	14.046109	6	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53644975	53644975	18453	19	C	G	G	G	390	30	ZNF347	3	3
ZNF677	342926	broad.mit.edu	37	19	53741285	53741285	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53741285C>G	uc002qbf.1	-	c.695G>C	c.(694-696)TGT>TCT	p.C232S	ZNF677_uc002qbg.1_Missense_Mutation_p.C232S	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)										0.168675	33.89619	42.524131	14	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53741285	53741285	18679	19	C	G	G	G	221	17	ZNF677	3	3
ZNF765	91661	broad.mit.edu	37	19	53911624	53911624	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53911624G>T	uc010ydx.1	+	c.816G>T	c.(814-816)AAG>AAT	p.K272N	ZNF765_uc002qbm.2_Missense_Mutation_p.K272N|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	272	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)										0.122951	17.237976	34.219721	15	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53911624	53911624	18737	19	G	T	T	T	464	36	ZNF765	2	2
TMC4	147798	broad.mit.edu	37	19	54675826	54675826	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54675826C>G	uc010erf.2	-	c.124G>C	c.(124-126)GAG>CAG	p.E42Q	TMC4_uc002qdo.2_Missense_Mutation_p.E36Q	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	42	Extracellular (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)													0.050633	-7.55975	9.33722	4	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54675826	54675826	16517	19	C	G	G	G	403	31	TMC4	3	3
LAIR2	3904	broad.mit.edu	37	19	55019214	55019214	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55019214T>A	uc002qgc.2	+	c.179T>A	c.(178-180)CTG>CAG	p.L60Q	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.2_Missense_Mutation_p.L60Q|LAIR2_uc010erl.2_Missense_Mutation_p.L60Q	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like	60	Ig-like C2-type.					extracellular region	receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)										0.151163	22.723366	32.744773	13	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55019214	55019214	8926	19	T	A	A	A	715	55	LAIR2	3	3
KIR2DL1	3802	broad.mit.edu	37	19	55290079	55290079	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55290079G>T	uc010erz.1	+	c.680G>T	c.(679-681)AGT>ATT	p.S227I	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc002qhb.1_Missense_Mutation_p.S227I	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	227	Extracellular (Potential).				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		GBM(72;624 1217 3963 34152 38303)								0.3083	209.498933	217.821434	78	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55290079	55290079	8628	19	G	T	T	T	468	36	KIR2DL1	2	2
FCAR	2204	broad.mit.edu	37	19	55399394	55399394	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55399394C>T	uc002qhr.1	+	c.382C>T	c.(382-384)CTC>TTC	p.L128F	FCAR_uc002qhq.2_Missense_Mutation_p.L128F|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.L101F|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.L128F|FCAR_uc002qhw.1_Missense_Mutation_p.L116F|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.L116F|FCAR_uc002qhz.1_Missense_Mutation_p.L116F|FCAR_uc002qia.1_Missense_Mutation_p.L19F	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	128	Extracellular (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0443)										0.130435	10.815588	20.008878	9	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55399394	55399394	6010	19	C	T	T	T	312	24	FCAR	2	2
NLRP7	199713	broad.mit.edu	37	19	55452864	55452864	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55452864C>T	uc010esl.2	-	c.300G>A	c.(298-300)GTG>GTA	p.V100V	NLRP7_uc002qig.3_Silent_p.V72V|NLRP7_uc002qii.3_Silent_p.V72V|NLRP7_uc002qih.3_Silent_p.V72V|NLRP7_uc010esk.2_Silent_p.V72V	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	72	DAPIN.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)										0.168831	23.323523	31.323352	13	64	KEEP	---	---	---	---	capture		Silent	SNP	55452864	55452864	10885	19	C	T	T	T	366	29	NLRP7	2	2
NLRP2	55655	broad.mit.edu	37	19	55508738	55508738	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55508738T>A	uc002qij.2	+	c.2933T>A	c.(2932-2934)CTC>CAC	p.L978H	NLRP2_uc010yfp.1_Missense_Mutation_p.L955H|NLRP2_uc010esn.2_Missense_Mutation_p.L954H|NLRP2_uc010eso.2_Missense_Mutation_p.L975H|NLRP2_uc010esp.2_Missense_Mutation_p.L956H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	978					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)										0.197917	81.337954	97.654469	38	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55508738	55508738	10880	19	T	A	A	A	702	54	NLRP2	3	3
NLRP11	204801	broad.mit.edu	37	19	56321474	56321474	+	Silent	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56321474A>G	uc010ygf.1	-	c.502T>C	c.(502-504)TTG>CTG	p.L168L	NLRP11_uc002qlz.2_Silent_p.L69L|NLRP11_uc002qmb.2_Silent_p.L69L|NLRP11_uc002qmc.2_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	168	NACHT.						ATP binding			ovary(3)|central_nervous_system(1)	4		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)										0.107692	9.483028	19.397467	7	58	KEEP	---	---	---	---	capture		Silent	SNP	56321474	56321474	10876	19	A	G	G	G	24	2	NLRP11	4	4
NLRP5	126206	broad.mit.edu	37	19	56515383	56515383	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56515383G>T	uc002qmj.2	+	c.364G>T	c.(364-366)GCC>TCC	p.A122S	NLRP5_uc002qmi.2_Missense_Mutation_p.A122S	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	122	DAPIN.					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)										0.183673	16.043252	20.648144	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56515383	56515383	10883	19	G	T	T	T	546	42	NLRP5	2	2
NLRP5	126206	broad.mit.edu	37	19	56549486	56549486	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56549486A>T	uc002qmj.2	+	c.2711A>T	c.(2710-2712)AAC>ATC	p.N904I	NLRP5_uc002qmi.2_Missense_Mutation_p.N885I	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	904	LRR 7.					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)										0.104	8.383716	27.896335	13	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56549486	56549486	10883	19	A	T	T	T	26	2	NLRP5	3	3
ZNF154	7710	broad.mit.edu	37	19	58213785	58213785	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58213785C>T	uc010euf.2	-	c.532G>A	c.(532-534)GAC>AAC	p.D178N	ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	zinc finger protein 154	178	C2H2-type 3.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)										0.079903	-3.66738	70.720742	33	380	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58213785	58213785	18326	19	C	T	T	T	377	29	ZNF154	2	2
ZNF417	147687	broad.mit.edu	37	19	58420019	58420019	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58420019T>G	uc002qqq.2	-	c.1627A>C	c.(1627-1629)ACT>CCT	p.T543P	ZNF417_uc010yhm.1_Missense_Mutation_p.T500P|ZNF417_uc002qqr.2_Missense_Mutation_p.T542P	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)										0.145374	63.587912	91.159308	33	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58420019	58420019	18487	19	T	G	G	G	767	59	ZNF417	4	4
MUC16	94025	broad.mit.edu	37	19	9011388	9011388	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9011388G>A	uc002mkp.2	-	c.38845C>T	c.(38845-38847)CAG>TAG	p.Q12949*	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12951	SEA 6.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.174623	272.614484	352.096388	139	657	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9011388	9011388	10367	19	G	A	A	A	611	47	MUC16	5	2
OLFM3	118427	broad.mit.edu	37	1	102269892	102269892	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:102269892T>A	uc001duf.2	-	c.1339A>T	c.(1339-1341)AAT>TAT	p.N447Y	OLFM3_uc001dug.2_Missense_Mutation_p.N427Y|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.N352Y|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	447	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)										0.069324	-30.253243	80.346186	40	537	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102269892	102269892	11259	1	T	A	A	A	819	63	OLFM3	3	3
COL11A1	1301	broad.mit.edu	37	1	103491099	103491099	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103491099C>T	uc001dum.2	-	c.1004G>A	c.(1003-1005)AGG>AAG	p.R335K	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Missense_Mutation_p.R323K|COL11A1_uc001dun.2_Missense_Mutation_p.R284K|COL11A1_uc009weh.2_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	323	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.076923	1.049997	24.865493	10	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103491099	103491099	3805	1	C	T	T	T	312	24	COL11A1	2	2
C1orf59	113802	broad.mit.edu	37	1	109191326	109191326	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109191326C>A	uc001dvt.3	-	c.1044G>T	c.(1042-1044)GCG>GCT	p.A348A	C1orf59_uc001dvu.3_Silent_p.A348A|C1orf59_uc009wer.2_3'UTR	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	348					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)										0.052632	-8.204466	11.78791	5	90	KEEP	---	---	---	---	capture		Silent	SNP	109191326	109191326	2125	1	C	A	A	A	236	19	C1orf59	1	1
FNDC7	163479	broad.mit.edu	37	1	109270445	109270445	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109270445G>C	uc001dvx.2	+	c.1127G>C	c.(1126-1128)AGT>ACT	p.S376T	FNDC7_uc010ova.1_Missense_Mutation_p.S143T	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	377	Fibronectin type-III 5.					extracellular region				ovary(1)	1		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)										0.077128	11.602229	80.381099	29	347	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109270445	109270445	6215	1	G	C	C	C	468	36	FNDC7	3	3
AMPD1	270	broad.mit.edu	37	1	115220954	115220954	+	Silent	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115220954A>G	uc001efe.1	-	c.1092T>C	c.(1090-1092)GCT>GCC	p.A364A	AMPD1_uc001eff.1_Silent_p.A360A	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	364					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)									0.09901	11.840907	44.333904	20	182	KEEP	---	---	---	---	capture		Silent	SNP	115220954	115220954	588	1	A	G	G	G	80	7	AMPD1	4	4
TTF2	8458	broad.mit.edu	37	1	117634030	117634030	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117634030G>A	uc001egy.2	+	c.2669G>A	c.(2668-2670)AGA>AAA	p.R890K		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	890					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|RNA polymerase II transcription termination factor activity|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)										0.069565	-4.599305	17.413662	8	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117634030	117634030	17274	1	G	A	A	A	429	33	TTF2	2	2
TNFRSF8	943	broad.mit.edu	37	1	12164497	12164497	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12164497C>T	uc001atq.2	+	c.330C>T	c.(328-330)CCC>CCT	p.P110P	TNFRSF8_uc010obc.1_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	110	TNFR-Cys 3.|Extracellular (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)						756				0.064516	-3.937092	8.274861	4	58	KEEP	---	---	---	---	capture		Silent	SNP	12164497	12164497	16840	1	C	T	T	T	288	23	TNFRSF8	1	1
SETDB1	9869	broad.mit.edu	37	1	150913870	150913870	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150913870C>T	uc001evu.2	+	c.513C>T	c.(511-513)GTC>GTT	p.V171V	SETDB1_uc009wmf.2_Silent_p.V171V|SETDB1_uc001evv.2_Silent_p.V171V|SETDB1_uc001evw.3_Silent_p.V171V|SETDB1_uc009wmg.1_Silent_p.V171V	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)							452				0.252252	61.938862	68.138488	28	83	KEEP	---	---	---	---	capture		Silent	SNP	150913870	150913870	14627	1	C	T	T	T	366	29	SETDB1	2	2
TCHH	7062	broad.mit.edu	37	1	152080152	152080152	+	Silent	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152080152C>G	uc001ezp.2	-	c.5541G>C	c.(5539-5541)GCG>GCC	p.A1847A	TCHH_uc009wne.1_Silent_p.A1847A	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1847	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.058651	-29.858757	39.591486	20	321	KEEP	---	---	---	---	capture		Silent	SNP	152080152	152080152	16226	1	C	G	G	G	288	23	TCHH	3	3
FLG	2312	broad.mit.edu	37	1	152280985	152280985	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152280985G>C	uc001ezu.1	-	c.6377C>G	c.(6376-6378)TCC>TGC	p.S2126C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2126	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.228571	154.972753	171.531292	56	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152280985	152280985	6160	1	G	C	C	C	533	41	FLG	3	3
FLG2	388698	broad.mit.edu	37	1	152328575	152328575	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152328575C>G	uc001ezw.3	-	c.1687G>C	c.(1687-1689)GAG>CAG	p.E563Q		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	563	Ser-rich.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.065934	-20.409549	86.45088	36	510	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152328575	152328575	6161	1	C	G	G	G	416	32	FLG2	3	3
CD1E	913	broad.mit.edu	37	1	158324257	158324257	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158324257G>A	uc001fse.2	+	c.149G>A	c.(148-150)TGG>TAG	p.W50*	CD1E_uc010pid.1_Nonsense_Mutation_p.W48*|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Nonsense_Mutation_p.W50*|CD1E_uc001fsk.2_Nonsense_Mutation_p.W50*|CD1E_uc001fsj.2_Nonsense_Mutation_p.W50*|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Nonsense_Mutation_p.W50*|CD1E_uc001fry.2_Nonsense_Mutation_p.W50*|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Nonsense_Mutation_p.W50*|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Nonsense_Mutation_p.W50*|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	50					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen					0	all_hematologic(112;0.0378)													0.214844	133.180611	152.403813	55	201	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158324257	158324257	3105	1	G	A	A	A	611	47	CD1E	5	2
OR6Y1	391112	broad.mit.edu	37	1	158517838	158517838	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158517838G>T	uc010pil.1	-	c.58C>A	c.(58-60)CTG>ATG	p.L20M		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.07722	-10.617194	36.819599	20	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158517838	158517838	11624	1	G	T	T	T	425	33	OR6Y1	2	2
OR10Z1	128368	broad.mit.edu	37	1	158576519	158576519	+	Silent	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158576519T>C	uc010pio.1	+	c.291T>C	c.(289-291)TGT>TGC	p.C97C		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.057864	-68.60488	69.889003	39	635	KEEP	---	---	---	---	capture		Silent	SNP	158576519	158576519	11329	1	T	C	C	C	764	59	OR10Z1	4	4
SPTA1	6708	broad.mit.edu	37	1	158617372	158617372	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158617372G>T	uc001fst.1	-	c.3853C>A	c.(3853-3855)CTA>ATA	p.L1285I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1285	Spectrin 12.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.196429	94.826295	114.022975	44	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158617372	158617372	15630	1	G	T	T	T	451	35	SPTA1	2	2
DARC	2532	broad.mit.edu	37	1	159175475	159175475	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159175475G>T	uc001ftp.3	+	c.252G>T	c.(250-252)ATG>ATT	p.M84I	DARC_uc001fto.2_Missense_Mutation_p.M82I	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform a	82	Helical; Name=1; (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)													0.164474	86.359122	118.869828	50	254	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159175475	159175475	4407	1	G	T	T	T	598	46	DARC	2	2
IGSF9	57549	broad.mit.edu	37	1	159904086	159904086	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159904086G>A	uc001fur.2	-	c.998C>T	c.(997-999)CCC>CTC	p.P333L	IGSF9_uc001fuq.2_Intron|IGSF9_uc001fup.2_5'Flank	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	333	Ig-like 4.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)											0.083333	1.103723	7.448802	3	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159904086	159904086	7906	1	G	A	A	A	559	43	IGSF9	2	2
NIT1	4817	broad.mit.edu	37	1	161089615	161089615	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161089615T>A	uc001fxv.1	+	c.464T>A	c.(463-465)GTA>GAA	p.V155E	PFDN2_uc001fxu.2_5'Flank|NIT1_uc001fxw.2_Missense_Mutation_p.V155E|NIT1_uc001fxx.1_Missense_Mutation_p.V119E|NIT1_uc001fxy.1_Missense_Mutation_p.V119E|NIT1_uc010pka.1_Missense_Mutation_p.V140E	NM_005600	NP_005591	Q86X76	NIT1_HUMAN	nitrilase 1	155	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)									OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.302083	76.706785	80.085854	29	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161089615	161089615	10834	1	T	A	A	A	741	57	NIT1	3	3
LMX1A	4009	broad.mit.edu	37	1	165218684	165218684	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165218684C>A	uc001gcy.1	-	c.457G>T	c.(457-459)GAG>TAG	p.E153*	LMX1A_uc001gcz.1_Nonsense_Mutation_p.E153*	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	153	LIM zinc-binding 2.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4	all_hematologic(923;0.248)													0.056738	-16.083743	13.009727	8	133	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	165218684	165218684	9190	1	C	A	A	A	390	30	LMX1A	5	2
POU2F1	5451	broad.mit.edu	37	1	167384785	167384785	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167384785G>A	uc001gef.2	+	c.2006G>A	c.(2005-2007)GGG>GAG	p.G669E	POU2F1_uc001gec.2_Missense_Mutation_p.G657E|POU2F1_uc001ged.2_Missense_Mutation_p.G655E|POU2F1_uc001gee.2_Missense_Mutation_p.G657E|POU2F1_uc010plh.1_Missense_Mutation_p.G594E|POU2F1_uc001geg.2_Intron	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	657					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			central_nervous_system(2)|breast(1)	3														0.087719	4.398818	33.705959	15	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167384785	167384785	12701	1	G	A	A	A	559	43	POU2F1	2	2
XCL2	6846	broad.mit.edu	37	1	168510326	168510326	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:168510326G>T	uc001gfn.3	-	c.209C>A	c.(208-210)GCT>GAT	p.A70D		NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2 precursor	70					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			ovary(1)	1	all_hematologic(923;0.215)													0.202703	90.238838	108.485367	45	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168510326	168510326	18005	1	G	T	T	T	442	34	XCL2	2	2
C1orf112	55732	broad.mit.edu	37	1	169801565	169801565	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169801565C>T	uc001ggp.2	+	c.1457C>T	c.(1456-1458)TCA>TTA	p.S486L	C1orf112_uc001ggj.2_Non-coding_Transcript|C1orf112_uc001ggq.2_Missense_Mutation_p.S486L|C1orf112_uc009wvt.2_Missense_Mutation_p.S163L|C1orf112_uc009wvu.1_Missense_Mutation_p.S362L|C1orf112_uc001ggr.2_Missense_Mutation_p.S351L|C1orf112_uc010plv.1_Missense_Mutation_p.S428L	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	486											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.03681	-26.392656	11.512169	6	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169801565	169801565	2052	1	C	T	T	T	377	29	C1orf112	2	2
MYOC	4653	broad.mit.edu	37	1	171605559	171605559	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171605559A>G	uc001ghu.2	-	c.1021T>C	c.(1021-1023)TCC>CCC	p.S341P	MYOC_uc010pmk.1_Missense_Mutation_p.S283P	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	341	Olfactomedin-like.		S -> P (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)													0.070312	-2.52013	21.857334	9	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171605559	171605559	10481	1	A	G	G	G	130	10	MYOC	4	4
ATP13A2	23400	broad.mit.edu	37	1	17323644	17323644	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17323644C>T	uc001baa.2	-	c.1066G>A	c.(1066-1068)GCA>ACA	p.A356T	ATP13A2_uc001bab.2_Missense_Mutation_p.A351T|ATP13A2_uc001bac.2_Missense_Mutation_p.A351T|ATP13A2_uc009vpa.1_Missense_Mutation_p.A69T|ATP13A2_uc001bad.1_Missense_Mutation_p.A69T	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	356	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)										0.073171	-1.297969	6.374212	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17323644	17323644	1143	1	C	T	T	T	338	26	ATP13A2	2	2
GPR52	9293	broad.mit.edu	37	1	174417609	174417609	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:174417609C>T	uc001gka.1	+	c.360C>T	c.(358-360)ATC>ATT	p.I120I	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	120	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						Ovarian(92;924 1390 1930 16467 40583)								0.062651	-32.072532	50.656347	26	389	KEEP	---	---	---	---	capture		Silent	SNP	174417609	174417609	6973	1	C	T	T	T	369	29	GPR52	2	2
TNN	63923	broad.mit.edu	37	1	175092570	175092570	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175092570G>A	uc001gkl.1	+	c.2685G>A	c.(2683-2685)TGG>TGA	p.W895*		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	895	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				0.053254	-35.167045	35.907908	18	320	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	175092570	175092570	16864	1	G	A	A	A	559	43	TNN	5	2
RASAL2	9462	broad.mit.edu	37	1	178421598	178421598	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:178421598A>T	uc001glq.2	+	c.1820A>T	c.(1819-1821)CAG>CTG	p.Q607L	RASAL2_uc001glr.2_Missense_Mutation_p.Q459L|RASAL2_uc009wxc.2_5'UTR	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	459	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5														0.046729	-38.57503	31.662942	15	306	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178421598	178421598	13525	1	A	T	T	T	91	7	RASAL2	3	3
SOAT1	6646	broad.mit.edu	37	1	179304777	179304777	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179304777A>G	uc001gml.2	+	c.314A>G	c.(313-315)AAC>AGC	p.N105S	SOAT1_uc010pni.1_Missense_Mutation_p.N40S|SOAT1_uc001gmm.2_Missense_Mutation_p.N47S|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.N40S	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	105					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)	1					Ezetimibe(DB00973)|Hesperetin(DB01094)									0.05848	-16.091593	19.064748	10	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179304777	179304777	15410	1	A	G	G	G	26	2	SOAT1	4	4
FAM5C	339479	broad.mit.edu	37	1	190195428	190195428	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190195428C>T	uc001gse.1	-	c.745G>A	c.(745-747)GAC>AAC	p.D249N	FAM5C_uc010pot.1_Missense_Mutation_p.D147N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	249						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.090909	4.262317	17.255495	7	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190195428	190195428	5817	1	C	T	T	T	416	32	FAM5C	2	2
RGS21	431704	broad.mit.edu	37	1	192316479	192316479	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192316479G>T	uc001gsh.2	+	c.48G>T	c.(46-48)ATG>ATT	p.M16I		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	16					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)	1														0.189024	61.239116	76.073282	31	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192316479	192316479	13778	1	G	T	T	T	585	45	RGS21	2	2
RGS1	5996	broad.mit.edu	37	1	192548398	192548398	+	Silent	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192548398A>G	uc001gsi.1	+	c.576A>G	c.(574-576)AAA>AAG	p.K192K		NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	192	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)												0.052632	-17.885948	30.314765	12	216	KEEP	---	---	---	---	capture		Silent	SNP	192548398	192548398	13766	1	A	G	G	G	50	4	RGS1	4	4
CFH	3075	broad.mit.edu	37	1	196695668	196695668	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196695668G>C	uc001gtj.3	+	c.1942G>C	c.(1942-1944)GAA>CAA	p.E648Q		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	648	Sushi 11.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.039568	-37.194637	26.34628	11	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196695668	196695668	3416	1	G	C	C	C	429	33	CFH	3	3
CRB1	23418	broad.mit.edu	37	1	197390148	197390148	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197390148A>T	uc001gtz.2	+	c.1190A>T	c.(1189-1191)GAC>GTC	p.D397V	CRB1_uc010poz.1_Missense_Mutation_p.D328V|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Missense_Mutation_p.D285V|CRB1_uc010ppb.1_Missense_Mutation_p.D397V|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.D46V	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	397	Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).				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														0.079114	-11.12762	46.308247	25	291	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197390148	197390148	3987	1	A	T	T	T	130	10	CRB1	3	3
TMCO4	255104	broad.mit.edu	37	1	20009735	20009735	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20009735C>T	uc001bcn.2	-	c.1703G>A	c.(1702-1704)GGA>GAA	p.G568E	TMCO4_uc001bcm.2_Missense_Mutation_p.G399E|TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	568						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)										0.138462	13.174022	21.352826	9	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20009735	20009735	16528	1	C	T	T	T	390	30	TMCO4	2	2
CHI3L1	1116	broad.mit.edu	37	1	203149613	203149613	+	Silent	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203149613G>C	uc001gzi.2	-	c.879C>G	c.(877-879)ACC>ACG	p.T293T	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Intron|CHI3L1_uc001gzj.2_Intron|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	293					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1														0.142857	19.763894	30.072952	12	72	KEEP	---	---	---	---	capture		Silent	SNP	203149613	203149613	3474	1	G	C	C	C	548	43	CHI3L1	3	3
PIK3C2B	5287	broad.mit.edu	37	1	204412608	204412608	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204412608C>A	uc001haw.2	-	c.2985G>T	c.(2983-2985)TGG>TGT	p.W995C	PIK3C2B_uc010pqv.1_Missense_Mutation_p.W967C	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	995					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|central_nervous_system(1)	3	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)							466				0.153846	5.259806	8.17861	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204412608	204412608	12334	1	C	A	A	A	338	26	PIK3C2B	2	2
CDK18	5129	broad.mit.edu	37	1	205498165	205498165	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205498165G>A	uc001hcr.2	+	c.1103G>A	c.(1102-1104)AGG>AAG	p.R368K	CDK18_uc001hcp.2_Missense_Mutation_p.R338K|CDK18_uc001hcq.2_Missense_Mutation_p.R338K|CDK18_uc010prj.1_Missense_Mutation_p.R249K|CDK18_uc001hcs.2_Missense_Mutation_p.R249K|CDK18_uc009xbm.1_Missense_Mutation_p.R263K|CDK18_uc001hct.2_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	336	Protein kinase.				protein phosphorylation		ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity				0						Pancreas(180;489 2072 28461 40831 44265)				699		OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.565217	41.18684	41.275987	13	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205498165	205498165	3263	1	G	A	A	A	455	35	CDK18	2	2
KCNH1	3756	broad.mit.edu	37	1	211192455	211192455	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:211192455C>T	uc001hib.2	-	c.702G>A	c.(700-702)TTG>TTA	p.L234L	KCNH1_uc001hic.2_Silent_p.L234L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	234	Helical; Name=Segment S1; (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)										0.203822	71.418097	84.198697	32	125	KEEP	---	---	---	---	capture		Silent	SNP	211192455	211192455	8336	1	C	T	T	T	272	21	KCNH1	2	2
CENPF	1063	broad.mit.edu	37	1	214803903	214803903	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214803903C>G	uc001hkm.2	+	c.1221C>G	c.(1219-1221)TTC>TTG	p.F407L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	407	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.188925	296.461724	352.029431	116	498	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214803903	214803903	3364	1	C	G	G	G	389	30	CENPF	3	3
OBSCN	84033	broad.mit.edu	37	1	228437916	228437916	+	Silent	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228437916G>C	uc009xez.1	+	c.4284G>C	c.(4282-4284)CGG>CGC	p.R1428R	OBSCN_uc001hsn.2_Silent_p.R1428R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1428	Ig-like 14.			R -> Q (in Ref. 1; CAC85749).	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.15	21.571758	31.02789	12	68	KEEP	---	---	---	---	capture		Silent	SNP	228437916	228437916	11217	1	G	C	C	C	535	42	OBSCN	3	3
EPHA8	2046	broad.mit.edu	37	1	22895844	22895844	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22895844G>T	uc001bfx.1	+	c.157G>T	c.(157-159)GGG>TGG	p.G53W	EPHA8_uc001bfw.2_Missense_Mutation_p.G53W	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	53	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|skin(1)	12		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)						520				0.089888	4.046789	19.139067	8	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22895844	22895844	5366	1	G	T	T	T	611	47	EPHA8	2	2
DISC1	27185	broad.mit.edu	37	1	231829654	231829654	+	Silent	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231829654A>G	uc001huz.2	+	c.150A>G	c.(148-150)ACA>ACG	p.T50T	TSNAX-DISC1_uc010pwe.1_Silent_p.T5T|TSNAX-DISC1_uc010pwf.1_Silent_p.T5T|TSNAX-DISC1_uc010pwg.1_Silent_p.T39T|TSNAX-DISC1_uc010pwh.1_Silent_p.T5T|TSNAX-DISC1_uc010pwi.1_Silent_p.T5T|TSNAX-DISC1_uc010pwj.1_Silent_p.T39T|TSNAX-DISC1_uc010pwk.1_Silent_p.T39T|TSNAX-DISC1_uc010pwl.1_Non-coding_Transcript|DISC1_uc010pwo.1_Silent_p.T50T|DISC1_uc010pwp.1_Silent_p.T50T|DISC1_uc010pwq.1_Silent_p.T50T|DISC1_uc010pwr.1_Silent_p.T50T|DISC1_uc010pws.1_Silent_p.T50T|DISC1_uc010pwt.1_Silent_p.T50T|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_Non-coding_Transcript|DISC1_uc010pww.1_Silent_p.T50T|DISC1_uc010pwx.1_Non-coding_Transcript|DISC1_uc010pwy.1_Non-coding_Transcript|DISC1_uc010pwz.1_Non-coding_Transcript|DISC1_uc010pxa.1_Non-coding_Transcript|DISC1_uc001huy.2_Silent_p.T50T|DISC1_uc010pxb.1_Silent_p.T50T|DISC1_uc010pxc.1_Silent_p.T50T|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Silent_p.T50T|DISC1_uc009xfr.2_Silent_p.T5T|DISC1_uc010pxf.1_Silent_p.T50T|DISC1_uc010pxg.1_Silent_p.T50T|DISC1_uc010pxh.1_Silent_p.T50T|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.1_Silent_p.T50T|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Silent_p.T50T|DISC1_uc010pwm.1_Silent_p.T50T|DISC1_uc001hux.1_Silent_p.T50T|DISC1_uc001hvc.3_Silent_p.T50T|DISC1_uc010pwn.1_Silent_p.T50T	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	50	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding				0		all_cancers(173;0.0208)|Prostate(94;0.0975)												0.081081	1.096831	14.323258	6	68	KEEP	---	---	---	---	capture		Silent	SNP	231829654	231829654	4717	1	A	G	G	G	80	7	DISC1	4	4
RYR2	6262	broad.mit.edu	37	1	237886547	237886547	+	Silent	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237886547T>C	uc001hyl.1	+	c.10674T>C	c.(10672-10674)CTT>CTC	p.L3558L	RYR2_uc010pxz.1_Silent_p.L513L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3558					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)											0.039683	-16.132492	12.65334	5	121	KEEP	---	---	---	---	capture		Silent	SNP	237886547	237886547	14249	1	T	C	C	C	821	64	RYR2	4	4
RYR2	6262	broad.mit.edu	37	1	237947973	237947973	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947973G>A	uc001hyl.1	+	c.12961G>A	c.(12961-12963)GGT>AGT	p.G4321S	RYR2_uc010pya.1_Missense_Mutation_p.G736S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4321					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)											0.138211	29.189297	44.757824	17	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237947973	237947973	14249	1	G	A	A	A	455	35	RYR2	2	2
FH	2271	broad.mit.edu	37	1	241663856	241663856	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241663856C>A	uc001hyx.2	-	c.1271G>T	c.(1270-1272)GGG>GTG	p.G424V		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	424					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)	4	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		Melanoma(148;1573 2486 7381 46575)				119				0.1875	70.713826	89.74665	39	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241663856	241663856	6112	1	C	A	A	A	286	22	FH	2	2
C1orf100	200159	broad.mit.edu	37	1	244528036	244528036	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:244528036C>T	uc001iah.2	+	c.34C>T	c.(34-36)CGT>TGT	p.R12C	C1orf100_uc001iai.2_Missense_Mutation_p.R12C	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	hypothetical protein LOC200159	12											0	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)											0.04698	-18.925357	13.591877	7	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	244528036	244528036	2042	1	C	T	T	T	351	27	C1orf100	1	1
OR2T8	343172	broad.mit.edu	37	1	248084403	248084403	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248084403G>T	uc010pzc.1	+	c.84G>T	c.(82-84)ATG>ATT	p.M28I		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.149682	82.657503	119.784643	47	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248084403	248084403	11436	1	G	T	T	T	611	47	OR2T8	2	2
OR2M3	127062	broad.mit.edu	37	1	248367035	248367035	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248367035C>G	uc010pzg.1	+	c.666C>G	c.(664-666)ATC>ATG	p.I222M		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.202658	332.166125	381.553823	122	480	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248367035	248367035	11417	1	C	G	G	G	382	30	OR2M3	3	3
OR2T1	26696	broad.mit.edu	37	1	248569766	248569766	+	Silent	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248569766T>A	uc010pzm.1	+	c.471T>A	c.(469-471)CTT>CTA	p.L157L		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	157	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.202128	83.260973	98.749348	38	150	KEEP	---	---	---	---	capture		Silent	SNP	248569766	248569766	11422	1	T	A	A	A	808	63	OR2T1	3	3
FGR	2268	broad.mit.edu	37	1	27939493	27939493	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27939493G>A	uc001boj.2	-	c.1522C>T	c.(1522-1524)CTG>TTG	p.L508L	FGR_uc001boi.2_Silent_p.L211L|FGR_uc001bok.2_Silent_p.L508L|FGR_uc001bol.2_Silent_p.L508L|FGR_uc001bom.2_Silent_p.L508L	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	508	Protein kinase.				platelet activation|protein phosphorylation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(1)	1		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)						129				0.070866	-4.226444	19.954455	9	118	KEEP	---	---	---	---	capture		Silent	SNP	27939493	27939493	6111	1	G	A	A	A	451	35	FGR	2	2
ZCCHC17	51538	broad.mit.edu	37	1	31810024	31810024	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:31810024C>G	uc010ogf.1	+	c.55C>G	c.(55-57)CTG>GTG	p.L19V	ZCCHC17_uc001bsp.1_Missense_Mutation_p.L43V|ZCCHC17_uc001bsq.1_Missense_Mutation_p.L35V|ZCCHC17_uc009vtu.1_Missense_Mutation_p.L19V|ZCCHC17_uc001bsr.1_Missense_Mutation_p.L43V|ZCCHC17_uc009vtv.1_Missense_Mutation_p.L19V	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	43	S1 motif.					nucleolus	RNA binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)										0.076087	3.416852	37.283444	14	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31810024	31810024	18173	1	C	G	G	G	415	32	ZCCHC17	3	3
ZMYM6	9204	broad.mit.edu	37	1	35485057	35485057	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35485057T>A	uc001byh.2	-	c.325A>T	c.(325-327)ACA>TCA	p.T109S	ZMYM6_uc001byf.1_Missense_Mutation_p.T109S|ZMYM6_uc010oht.1_Missense_Mutation_p.T12S|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.T109S|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Missense_Mutation_p.T109S|ZMYM6_uc001byi.2_Missense_Mutation_p.T109S|ZMYM6_uc001byk.2_Missense_Mutation_p.T109S	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	109					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)												0.050459	-25.046562	21.644482	11	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35485057	35485057	18295	1	T	A	A	A	754	58	ZMYM6	3	3
KIAA0319L	79932	broad.mit.edu	37	1	35909843	35909843	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35909843C>T	uc001byx.2	-	c.2575G>A	c.(2575-2577)GTG>ATG	p.V859M	KIAA0319L_uc001byw.2_Missense_Mutation_p.V301M|KIAA0319L_uc010ohv.1_Missense_Mutation_p.V501M	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	859	Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.107692	11.983652	31.802694	14	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35909843	35909843	8476	1	C	T	T	T	234	18	KIAA0319L	2	2
ADPRHL2	54936	broad.mit.edu	37	1	36558896	36558896	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36558896A>T	uc001bzt.2	+	c.1001A>T	c.(1000-1002)CAG>CTG	p.Q334L	ADPRHL2_uc001bzu.2_Missense_Mutation_p.Q180L	NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	334						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			pancreas(1)	1		Myeloproliferative disorder(586;0.0393)												0.078125	0.327125	11.968209	5	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36558896	36558896	334	1	A	T	T	T	91	7	ADPRHL2	3	3
MACF1	23499	broad.mit.edu	37	1	39800952	39800952	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39800952G>A	uc010oiu.1	+	c.4012G>A	c.(4012-4014)GCT>ACT	p.A1338T	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1523	Spectrin 7.|Potential.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.081081	-0.406977	19.437337	9	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39800952	39800952	9521	1	G	A	A	A	546	42	MACF1	2	2
MACF1	23499	broad.mit.edu	37	1	39926448	39926448	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39926448G>C	uc010oiu.1	+	c.16834G>C	c.(16834-16836)GAT>CAT	p.D5612H	MACF1_uc010ois.1_Missense_Mutation_p.D5110H|MACF1_uc001cde.1_5'Flank|MACF1_uc001cdf.1_5'Flank	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5110	EF-hand 1.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.113821	22.391504	40.456004	14	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39926448	39926448	9521	1	G	C	C	C	481	37	MACF1	3	3
COL9A2	1298	broad.mit.edu	37	1	40775972	40775972	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40775972C>A	uc001cfh.1	-	c.702G>T	c.(700-702)AGG>AGT	p.R234S	COL9A2_uc001cfi.1_Missense_Mutation_p.R53S	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	234	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX	extracellular matrix structural constituent conferring tensile strength			ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)											0.092784	1.528325	17.981834	9	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40775972	40775972	3846	1	C	A	A	A	285	22	COL9A2	2	2
GUCA2B	2981	broad.mit.edu	37	1	42620408	42620408	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:42620408C>A	uc001chc.1	+	c.148C>A	c.(148-150)CAG>AAG	p.Q50K		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B precursor	50					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity				0	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.076923	-0.344332	16.327296	7	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42620408	42620408	7172	1	C	A	A	A	221	17	GUCA2B	2	2
MPL	4352	broad.mit.edu	37	1	43804244	43804244	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43804244C>T	uc001ciw.2	+	c.244C>T	c.(244-246)CAG>TAG	p.Q82*	MPL_uc001civ.2_Nonsense_Mutation_p.Q82*|MPL_uc009vwr.2_Nonsense_Mutation_p.Q75*	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	82	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(359)|pancreas(1)	360	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				NSCLC(52;534 1204 10016 41452 44427)				169				0.055085	-21.351995	27.769781	13	223	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43804244	43804244	10122	1	C	T	T	T	273	21	MPL	5	2
HECTD3	79654	broad.mit.edu	37	1	45476639	45476639	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45476639C>A	uc009vxk.2	-	c.291G>T	c.(289-291)GAG>GAT	p.E97D	HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_5'UTR|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank|UROD_uc010olj.1_5'Flank|UROD_uc001cnc.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	97					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex|perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)													0.176471	5.31525	6.99215	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45476639	45476639	7324	1	C	A	A	A	363	28	HECTD3	2	2
STIL	6491	broad.mit.edu	37	1	47716840	47716840	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47716840T>A	uc001crd.1	-	c.3835A>T	c.(3835-3837)AAA>TAA	p.K1279*	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Nonsense_Mutation_p.K1232*|STIL_uc010omo.1_Nonsense_Mutation_p.K1261*|STIL_uc001crc.1_Nonsense_Mutation_p.K1278*|STIL_uc001cre.1_Nonsense_Mutation_p.K1278*	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 1	1278					cell proliferation|multicellular organismal development	cytosol					0		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)								992				0.093596	6.279059	39.98942	19	184	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47716840	47716840	15802	1	T	A	A	A	832	64	STIL	5	3
USP24	23358	broad.mit.edu	37	1	55637289	55637289	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55637289C>A	uc001cyg.3	-	c.429G>T	c.(427-429)TGG>TGT	p.W143C		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	255					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13														0.222222	11.125181	13.054518	6	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55637289	55637289	17618	1	C	A	A	A	286	22	USP24	2	2
INADL	10207	broad.mit.edu	37	1	62241001	62241001	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62241001G>T	uc001dab.2	+	c.844G>T	c.(844-846)GAT>TAT	p.D282Y	INADL_uc009waf.1_Missense_Mutation_p.D282Y|INADL_uc001daa.2_Missense_Mutation_p.D282Y|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	282	PDZ 2.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.060052	-32.763544	44.736392	23	360	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62241001	62241001	8032	1	G	T	T	T	429	33	INADL	2	2
INADL	10207	broad.mit.edu	37	1	62545190	62545190	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62545190A>T	uc001dab.2	+	c.4194A>T	c.(4192-4194)TTA>TTT	p.L1398F	INADL_uc009waf.1_Missense_Mutation_p.L1398F|INADL_uc001daa.2_Missense_Mutation_p.L1398F|INADL_uc001dad.3_Missense_Mutation_p.L1095F|INADL_uc001dac.2_Non-coding_Transcript|INADL_uc010oot.1_Missense_Mutation_p.L182F|INADL_uc009wag.2_Missense_Mutation_p.L182F|INADL_uc010oou.1_Missense_Mutation_p.L71F	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1398					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.050725	-16.586864	12.935946	7	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62545190	62545190	8032	1	A	T	T	T	193	15	INADL	3	3
CACHD1	57685	broad.mit.edu	37	1	65117912	65117912	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65117912G>A	uc001dbo.1	+	c.1306G>A	c.(1306-1308)GTG>ATG	p.V436M	CACHD1_uc001dbp.1_Missense_Mutation_p.V191M|CACHD1_uc001dbq.1_Missense_Mutation_p.V191M	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	487	Extracellular (Potential).|Cache 1.				calcium ion transport	integral to membrane				ovary(2)	2														0.057377	-12.099523	12.923386	7	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65117912	65117912	2653	1	G	A	A	A	520	40	CACHD1	1	1
OR4F5	79501	broad.mit.edu	37	1	69516	69516	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:69516G>A	uc001aal.1	+	c.426G>A	c.(424-426)TGG>TGA	p.W142*		NM_001005484	NP_001005484	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)										0.132479	49.857927	80.473151	31	203	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	69516	69516	11475	1	G	A	A	A	559	43	OR4F5	5	2
LRRIQ3	127255	broad.mit.edu	37	1	74507414	74507415	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:74507414_74507415CC>AA	uc001dfy.3	-	c.1200_1201GG>TT	c.(1198-1203)TTGGAG>TTTTAG	p.400_401LE>F*	LRRIQ3_uc001dfz.3_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	400_401										ovary(2)	2										2				0.096886	11.985121	59.056588	28	261	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	74507414	74507415	9406	1	CC	AA	AA	AA	390	30	LRRIQ3	5	2
FUBP1	8880	broad.mit.edu	37	1	78430612	78430612	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78430612C>A	uc010orm.1	-	c.741G>T	c.(739-741)CCG>CCT	p.P247P	FUBP1_uc001dih.3_Non-coding_Transcript|FUBP1_uc001dii.2_Silent_p.P226P	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	226	KH 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3														0.071429	-3.549136	30.873541	13	169	KEEP	---	---	---	---	capture		Silent	SNP	78430612	78430612	6343	1	C	A	A	A	340	27	FUBP1	1	1
IFI44L	10964	broad.mit.edu	37	1	79093737	79093737	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:79093737G>T	uc010oro.1	+	c.137G>T	c.(136-138)CGT>CTT	p.R46L	IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	46						cytoplasm					0														0.06993	-3.728892	23.539933	10	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79093737	79093737	7819	1	G	T	T	T	520	40	IFI44L	1	1
CLCA2	9635	broad.mit.edu	37	1	86905931	86905931	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86905931G>T	uc001dlr.3	+	c.1304G>T	c.(1303-1305)AGC>ATC	p.S435I		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	435	VWFA.|Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)	2		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)								0.1	23.150054	85.486386	39	351	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86905931	86905931	3594	1	G	T	T	T	442	34	CLCA2	2	2
ENO1	2023	broad.mit.edu	37	1	8923352	8923352	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8923352G>A	uc001apj.1	-	c.1118C>T	c.(1117-1119)TCG>TTG	p.S373L	ENO1_uc001api.1_Missense_Mutation_p.S277L|ENO1_uc001apk.1_Missense_Mutation_p.S318L|ENO1_uc001apl.1_Missense_Mutation_p.S373L|ENO1_uc009vmi.1_Missense_Mutation_p.S330L|ENO1_uc009vmj.1_Intron|ENO1_uc009vmk.1_Missense_Mutation_p.S247L|ENO1_uc009vml.1_Missense_Mutation_p.S373L	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	373	Substrate binding (By similarity).				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	nucleus|phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription repressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		Esophageal Squamous(21;302 608 19946 22210 33560)						OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.107143	2.504673	6.793659	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8923352	8923352	5314	1	G	A	A	A	481	37	ENO1	1	1
CA6	765	broad.mit.edu	37	1	9022659	9022659	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9022659C>A	uc001apm.2	+	c.515C>A	c.(514-516)CCT>CAT	p.P172H	CA6_uc009vmn.2_Missense_Mutation_p.P112H	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	172					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)										0.085714	1.873206	32.459626	15	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9022659	9022659	2637	1	C	A	A	A	312	24	CA6	2	2
PTBP2	58155	broad.mit.edu	37	1	97235391	97235391	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:97235391G>T	uc010otz.1	+	c.281G>T	c.(280-282)GGT>GTT	p.G94V	PTBP2_uc001drn.2_Missense_Mutation_p.G83V|PTBP2_uc001dro.2_Missense_Mutation_p.G83V|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Missense_Mutation_p.G31V|PTBP2_uc001drq.2_Missense_Mutation_p.G83V|PTBP2_uc001drr.2_Missense_Mutation_p.G83V|PTBP2_uc010oua.1_Missense_Mutation_p.G91V|PTBP2_uc001dru.2_Non-coding_Transcript|PTBP2_uc001drm.2_Missense_Mutation_p.G83V	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	83	RRM 1.						nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)										0.090909	12.837058	55.515432	23	230	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97235391	97235391	13180	1	G	T	T	T	572	44	PTBP2	2	2
LPPR4	9890	broad.mit.edu	37	1	99753629	99753629	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99753629C>G	uc001dse.2	+	c.331C>G	c.(331-333)CCG>GCG	p.P111A	LPPR4_uc010oue.1_Missense_Mutation_p.P111A	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	111							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.096654	23.956309	67.805877	26	243	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99753629	99753629	9300	1	C	G	G	G	338	26	LPPR4	3	3
LPPR4	9890	broad.mit.edu	37	1	99772444	99772444	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99772444C>T	uc001dse.2	+	c.2170C>T	c.(2170-2172)CGC>TGC	p.R724C	LPPR4_uc010oue.1_Missense_Mutation_p.R666C	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	724							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.08046	-0.07434	15.477559	7	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99772444	99772444	9300	1	C	T	T	T	299	23	LPPR4	1	1
LPPR4	9890	broad.mit.edu	37	1	99772455	99772455	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99772455C>A	uc001dse.2	+	c.2181C>A	c.(2179-2181)ACC>ACA	p.T727T	LPPR4_uc010oue.1_Silent_p.T669T	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	727							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.075472	-3.162509	16.414509	8	98	KEEP	---	---	---	---	capture		Silent	SNP	99772455	99772455	9300	1	C	A	A	A	275	22	LPPR4	2	2
SEL1L2	80343	broad.mit.edu	37	20	13846071	13846071	+	Silent	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:13846071A>T	uc010gcf.2	-	c.1494T>A	c.(1492-1494)TCT>TCA	p.S498S	SEL1L2_uc002woq.3_Silent_p.S359S|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_Intron	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	498	Extracellular (Potential).					integral to membrane	binding			ovary(1)	1														0.102564	13.754873	44.45394	20	175	KEEP	---	---	---	---	capture		Silent	SNP	13846071	13846071	14497	20	A	T	T	T	132	11	SEL1L2	3	3
OVOL2	58495	broad.mit.edu	37	20	18022289	18022289	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18022289G>C	uc002wqi.1	-	c.400C>G	c.(400-402)CTG>GTG	p.L134V		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	zinc finger protein 339	134	C2H2-type 1.				negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus|nucleus	DNA binding|promoter binding|zinc ion binding			central_nervous_system(1)	1														0.090909	4.046315	15.138352	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18022289	18022289	11740	20	G	C	C	C	438	34	OVOL2	3	3
CRNKL1	51340	broad.mit.edu	37	20	20017996	20017996	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:20017996T>G	uc002wrs.2	-	c.2350A>C	c.(2350-2352)AAG>CAG	p.K784Q		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	784	HAT 16.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3														0.054902	-34.507313	71.881702	28	482	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20017996	20017996	4030	20	T	G	G	G	806	62	CRNKL1	4	4
SSTR4	6754	broad.mit.edu	37	20	23016843	23016843	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23016843G>T	uc002wsr.2	+	c.723G>T	c.(721-723)GTG>GTT	p.V241V		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	241	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					Esophageal Squamous(15;850 1104 16640)								0.153846	10.426887	14.893482	6	33	KEEP	---	---	---	---	capture		Silent	SNP	23016843	23016843	15716	20	G	T	T	T	600	47	SSTR4	2	2
CST1	1469	broad.mit.edu	37	20	23731400	23731400	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23731400T>G	uc002wtp.2	-	c.104A>C	c.(103-105)TAT>TCT	p.Y35S		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	35						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)													0.055556	-5.99217	12.702027	5	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23731400	23731400	4111	20	T	G	G	G	637	49	CST1	4	4
ZNF337	26152	broad.mit.edu	37	20	25655806	25655806	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:25655806T>C	uc002wva.2	-	c.2118A>G	c.(2116-2118)ATA>ATG	p.I706M	ZNF337_uc010ztg.1_Missense_Mutation_p.I674M|ZNF337_uc002wvb.2_Missense_Mutation_p.I706M|ZNF337_uc002wvc.2_Missense_Mutation_p.I706M	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	706	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.093156	43.688562	131.609862	49	477	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25655806	25655806	18445	20	T	C	C	C	732	57	ZNF337	4	4
GSS	2937	broad.mit.edu	37	20	33539581	33539581	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33539581C>T	uc002xbg.2	-	c.75G>A	c.(73-75)CGG>CGA	p.R25R	GSS_uc010zuo.1_Silent_p.R25R|GSS_uc010zup.1_5'UTR|GSS_uc002xbh.2_Non-coding_Transcript|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	25					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)									0.142857	8.051273	12.35382	5	30	KEEP	---	---	---	---	capture		Silent	SNP	33539581	33539581	7109	20	C	T	T	T	275	22	GSS	2	2
CEP250	11190	broad.mit.edu	37	20	34061702	34061702	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34061702G>T	uc002xcm.2	+	c.1396G>T	c.(1396-1398)GAG>TAG	p.E466*	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	466	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)											0.078125	-1.57974	10.071063	5	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34061702	34061702	3385	20	G	T	T	T	429	33	CEP250	5	2
LBP	3929	broad.mit.edu	37	20	36993307	36993307	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36993307C>A	uc002xic.1	+	c.822C>A	c.(820-822)AAC>AAA	p.N274K		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	274					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)												0.093168	10.10546	36.902366	15	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36993307	36993307	8974	20	C	A	A	A	220	17	LBP	2	2
KCNB1	3745	broad.mit.edu	37	20	48098496	48098496	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:48098496T>A	uc002xur.1	-	c.522A>T	c.(520-522)AAA>AAT	p.K174N	KCNB1_uc002xus.1_Missense_Mutation_p.K174N	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	174	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.097561	6.911072	46.777125	24	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48098496	48098496	8317	20	T	A	A	A	777	60	KCNB1	3	3
SALL4	57167	broad.mit.edu	37	20	50408104	50408104	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50408104C>A	uc002xwh.3	-	c.918G>T	c.(916-918)CTG>CTT	p.L306L	SALL4_uc010gii.2_Silent_p.L306L|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	306					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.064516	-4.190052	7.977209	4	58	KEEP	---	---	---	---	capture		Silent	SNP	50408104	50408104	14293	20	C	A	A	A	210	17	SALL4	2	2
GTPBP5	26164	broad.mit.edu	37	20	60772967	60772967	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60772967G>A	uc002yce.3	+	c.412G>A	c.(412-414)GAA>AAA	p.E138K	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_Intron|GTPBP5_uc011aae.1_Intron|GTPBP5_uc011aaf.1_Intron|GTPBP5_uc011aag.1_Missense_Mutation_p.E138K	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	138	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)											0.160494	22.617901	31.514652	13	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60772967	60772967	7163	20	G	A	A	A	429	33	GTPBP5	2	2
GTPBP5	26164	broad.mit.edu	37	20	60773887	60773887	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60773887G>A	uc002yce.3	+	c.666G>A	c.(664-666)AAG>AAA	p.K222K	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Intron|GTPBP5_uc011aag.1_Silent_p.K222K	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	222	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)											0.097561	2.966878	9.617937	4	37	KEEP	---	---	---	---	capture		Silent	SNP	60773887	60773887	7163	20	G	A	A	A	425	33	GTPBP5	2	2
NTSR1	4923	broad.mit.edu	37	20	61391394	61391394	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61391394C>A	uc002ydf.2	+	c.1032C>A	c.(1030-1032)TAC>TAA	p.Y344*		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	344	Helical; Name=7; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled				0	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GBM(37;400 780 6403 19663 35669)				297				0.12963	11.085442	18.296843	7	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61391394	61391394	11115	20	C	A	A	A	259	20	NTSR1	5	2
RNF160	26046	broad.mit.edu	37	21	30319883	30319883	+	Silent	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30319883T>A	uc002ymr.2	-	c.3528A>T	c.(3526-3528)CTA>CTT	p.L1176L		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1130							ligase activity|zinc ion binding				0														0.304348	19.916796	20.702082	7	16	KEEP	---	---	---	---	capture		Silent	SNP	30319883	30319883	13932	21	T	A	A	A	626	49	RNF160	3	3
KRTAP26-1	388818	broad.mit.edu	37	21	31692318	31692318	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31692318G>C	uc002ynw.2	-	c.36C>G	c.(34-36)AAC>AAG	p.N12K		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	12						intermediate filament				ovary(1)	1														0.072917	-0.530479	17.459566	7	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31692318	31692318	8865	21	G	C	C	C	464	36	KRTAP26-1	3	3
KRTAP15-1	254950	broad.mit.edu	37	21	31812752	31812752	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31812752A>G	uc002yod.2	+	c.107A>G	c.(106-108)TAT>TGT	p.Y36C		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	36						intermediate filament					0														0.04712	-22.902692	19.041955	9	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31812752	31812752	8841	21	A	G	G	G	208	16	KRTAP15-1	4	4
TIAM1	7074	broad.mit.edu	37	21	32499455	32499455	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32499455G>C	uc002yow.1	-	c.4061C>G	c.(4060-4062)GCC>GGC	p.A1354G	TIAM1_uc011adk.1_Missense_Mutation_p.A1354G|TIAM1_uc011adl.1_Missense_Mutation_p.A1294G	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1354	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.08	3.469295	21.417798	8	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32499455	32499455	16418	21	G	C	C	C	546	42	TIAM1	3	3
SYNJ1	8867	broad.mit.edu	37	21	34003562	34003562	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34003562C>T	uc002yqh.2	-	c.4582G>A	c.(4582-4584)GAT>AAT	p.D1528N	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.D1442N|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Missense_Mutation_p.D114N	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1489	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)	4														0.148734	80.25128	117.638035	47	269	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34003562	34003562	15973	21	C	T	T	T	390	30	SYNJ1	2	2
DOPEY2	9980	broad.mit.edu	37	21	37605353	37605353	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37605353G>C	uc002yvg.2	+	c.2602G>C	c.(2602-2604)GAG>CAG	p.E868Q	DOPEY2_uc011aeb.1_Missense_Mutation_p.E868Q	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	868					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2														0.152174	13.498185	18.84267	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37605353	37605353	4892	21	G	C	C	C	429	33	DOPEY2	3	3
SIM2	6493	broad.mit.edu	37	21	38095399	38095399	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:38095399A>G	uc002yvr.2	+	c.511A>G	c.(511-513)AGG>GGG	p.R171G	SIM2_uc002yvq.2_Missense_Mutation_p.R171G	NM_005069	NP_005060	Q14190	SIM2_HUMAN	single-minded homolog 2 long isoform	171					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1														0.061947	-5.157797	17.445197	7	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38095399	38095399	14819	21	A	G	G	G	36	3	SIM2	4	4
IGSF5	150084	broad.mit.edu	37	21	41142968	41142968	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41142968G>A	uc002yyo.2	+	c.544G>A	c.(544-546)GTC>ATC	p.V182I		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	182	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)												0.15873	31.994809	45.924721	20	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41142968	41142968	7903	21	G	A	A	A	572	44	IGSF5	2	2
GAB4	128954	broad.mit.edu	37	22	17469039	17469039	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17469039G>T	uc002zlw.2	-	c.497C>A	c.(496-498)TCC>TAC	p.S166Y	GAB4_uc010gqs.1_Intron	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	166										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)												0.120482	8.724218	20.425577	10	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17469039	17469039	6402	22	G	T	T	T	533	41	GAB4	2	2
USP18	11274	broad.mit.edu	37	22	18642967	18642967	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18642967G>C	uc002zny.2	+	c.186G>C	c.(184-186)CAG>CAC	p.Q62H		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	ubiquitin specific protease 18	62					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0														0.106383	12.283264	26.740894	10	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18642967	18642967	17612	22	G	C	C	C	425	33	USP18	3	3
PRAME	23532	broad.mit.edu	37	22	22892305	22892305	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22892305G>A	uc002zwf.2	-	c.796C>T	c.(796-798)CTC>TTC	p.L266F	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.L250F|PRAME_uc010gtr.2_Missense_Mutation_p.L266F|PRAME_uc002zwg.2_Missense_Mutation_p.L266F|PRAME_uc002zwh.2_Missense_Mutation_p.L266F|PRAME_uc002zwi.2_Missense_Mutation_p.L266F|PRAME_uc002zwj.2_Missense_Mutation_p.L266F|PRAME_uc002zwk.2_Missense_Mutation_p.L266F	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	266					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding|transcription repressor activity			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		Melanoma(73;1707 1838 15168 27201)				1184				0.162162	22.358608	30.387918	12	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22892305	22892305	12860	22	G	A	A	A	455	35	PRAME	2	2
SYN3	8224	broad.mit.edu	37	22	33402347	33402347	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:33402347G>T	uc003amx.2	-	c.301C>A	c.(301-303)CAT>AAT	p.H101N	SYN3_uc003amy.2_Missense_Mutation_p.H101N|SYN3_uc003amz.2_Missense_Mutation_p.H101N	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	101	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity				0										35				0.1417	53.045658	83.661413	35	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33402347	33402347	15963	22	G	T	T	T	611	47	SYN3	2	2
APOL3	80833	broad.mit.edu	37	22	36537717	36537717	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:36537717G>C	uc003aot.2	-	c.740C>G	c.(739-741)TCA>TGA	p.S247*	APOL3_uc003aoq.2_Nonsense_Mutation_p.S176*|APOL3_uc003aor.2_Nonsense_Mutation_p.S176*|APOL3_uc003aos.2_Nonsense_Mutation_p.S176*|APOL3_uc003aou.2_Nonsense_Mutation_p.S47*|APOL3_uc003aov.2_Nonsense_Mutation_p.S47*	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	247					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0														0.293103	51.947725	54.173071	17	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36537717	36537717	818	22	G	C	C	C	585	45	APOL3	5	3
RPS19BP1	91582	broad.mit.edu	37	22	39925559	39925559	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39925559C>T	uc003ayb.2	-	c.349G>A	c.(349-351)GAG>AAG	p.E117K		NM_194326	NP_919307	Q86WX3	AROS_HUMAN	S19 binding protein	117						nucleolus|nucleoplasm					0	Melanoma(58;0.04)											OREG0026578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.065574	-3.935719	8.002885	4	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39925559	39925559	14110	22	C	T	T	T	377	29	RPS19BP1	2	2
ZC3H7B	23264	broad.mit.edu	37	22	41742176	41742176	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41742176G>T	uc003azw.2	+	c.1629G>T	c.(1627-1629)CTG>CTT	p.L543L	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	559					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1														0.272727	12.210038	13.259691	6	16	KEEP	---	---	---	---	capture		Silent	SNP	41742176	41742176	18161	22	G	T	T	T	574	45	ZC3H7B	2	2
PNPLA3	80339	broad.mit.edu	37	22	44322827	44322827	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44322827A>T	uc003bei.1	+	c.200A>T	c.(199-201)CAG>CTG	p.Q67L	PNPLA3_uc010gzm.1_Non-coding_Transcript	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	67	Lumenal (Potential).|Patatin.				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)												0.214286	7.317269	8.372571	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44322827	44322827	12593	22	A	T	T	T	91	7	PNPLA3	3	3
SAPS2	9701	broad.mit.edu	37	22	50878211	50878211	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50878211G>C	uc003blb.1	+	c.2210G>C	c.(2209-2211)AGT>ACT	p.S737T	SAPS2_uc003bky.1_Missense_Mutation_p.S711T|SAPS2_uc003bkz.1_Missense_Mutation_p.S710T|SAPS2_uc003blc.2_Missense_Mutation_p.S737T|SAPS2_uc003bla.1_Missense_Mutation_p.S711T|SAPS2_uc003bld.1_Missense_Mutation_p.S270T	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	737						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)										0.153846	8.382577	11.361332	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50878211	50878211	14318	22	G	C	C	C	468	36	SAPS2	3	3
POLR1B	84172	broad.mit.edu	37	2	113308449	113308449	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113308449C>T	uc010yxn.1	+	c.746C>T	c.(745-747)TCA>TTA	p.S249L	POLR1B_uc002thw.2_Missense_Mutation_p.S211L|POLR1B_uc010fkn.2_Missense_Mutation_p.S155L|POLR1B_uc002thx.2_Missense_Mutation_p.S72L|POLR1B_uc010fko.2_Missense_Mutation_p.S211L|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.S72L|POLR1B_uc010yxo.1_5'UTR	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	211					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						Ovarian(16;256 576 9537 23969 41147)								0.061224	-7.028248	12.667216	6	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113308449	113308449	12638	2	C	T	T	T	377	29	POLR1B	2	2
DDX18	8886	broad.mit.edu	37	2	118579437	118579437	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:118579437G>C	uc002tlh.1	+	c.752_splice	c.e6-1	p.G251_splice		NM_006773	NP_006764			DEAD (Asp-Glu-Ala-Asp) box polypeptide 18								ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4														0.047414	-26.154581	24.436314	11	221	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118579437	118579437	4516	2	G	C	C	C	455	35	DDX18	5	3
CNTNAP5	129684	broad.mit.edu	37	2	125262125	125262125	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125262125T>C	uc010flu.2	+	c.1319T>C	c.(1318-1320)ATC>ACC	p.I440T	CNTNAP5_uc002tno.2_Missense_Mutation_p.I439T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	439	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.090909	2.227113	7.769278	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125262125	125262125	3788	2	T	C	C	C	650	50	CNTNAP5	4	4
POTEE	445582	broad.mit.edu	37	2	131976449	131976449	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131976449C>A	uc002tsn.2	+	c.474C>A	c.(472-474)ATC>ATA	p.I158I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	158							ATP binding				0														0.076923	-3.154598	23.021249	11	132	KEEP	---	---	---	---	capture		Silent	SNP	131976449	131976449	12694	2	C	A	A	A	395	31	POTEE	1	1
NCKAP5	344148	broad.mit.edu	37	2	133539801	133539801	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133539801G>C	uc002ttp.2	-	c.4583C>G	c.(4582-4584)TCC>TGC	p.S1528C	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1528							protein binding				0														0.16	44.533032	58.281901	20	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133539801	133539801	10622	2	G	C	C	C	533	41	NCKAP5	3	3
LCT	3938	broad.mit.edu	37	2	136575116	136575116	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136575116G>T	uc002tuu.1	-	c.1502C>A	c.(1501-1503)CCT>CAT	p.P501H		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	501	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.210526	18.178163	21.124595	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136575116	136575116	9017	2	G	T	T	T	455	35	LCT	2	2
THSD7B	80731	broad.mit.edu	37	2	138208560	138208560	+	Silent	SNP	A	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:138208560A>C	uc002tva.1	+	c.3012A>C	c.(3010-3012)GGA>GGC	p.G1004G	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.059701	-3.042954	10.53052	4	63	KEEP	---	---	---	---	capture		Silent	SNP	138208560	138208560	16408	2	A	C	C	C	119	10	THSD7B	4	4
LRP1B	53353	broad.mit.edu	37	2	140997090	140997090	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:140997090T>C	uc002tvj.1	-	c.13336A>G	c.(13336-13338)ATC>GTC	p.I4446V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4446	Helical; (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.1	3.579613	14.765911	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140997090	140997090	9328	2	T	C	C	C	663	51	LRP1B	4	4
KIF5C	3800	broad.mit.edu	37	2	149840214	149840214	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:149840214C>T	uc010zbu.1	+	c.1650C>T	c.(1648-1650)ATC>ATT	p.I550I	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.2_Silent_p.I102I	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	550					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)										0.048387	-14.85588	12.038096	6	118	KEEP	---	---	---	---	capture		Silent	SNP	149840214	149840214	8618	2	C	T	T	T	382	30	KIF5C	2	2
NEB	4703	broad.mit.edu	37	2	152553214	152553214	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152553214G>A	uc010fnx.2	-	c.1506C>T	c.(1504-1506)TTC>TTT	p.F502F	NEB_uc010fny.1_Silent_p.F56F	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	502	Nebulin 12.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.13986	27.800922	45.734466	20	123	KEEP	---	---	---	---	capture		Silent	SNP	152553214	152553214	10701	2	G	A	A	A	581	45	NEB	2	2
KCNH7	90134	broad.mit.edu	37	2	163241380	163241380	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163241380A>T	uc002uch.1	-	c.2780T>A	c.(2779-2781)TTT>TAT	p.F927Y		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	927	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)	3					Ibutilide(DB00308)	GBM(196;1492 2208 17507 24132 45496)								0.140281	92.235507	154.591337	70	429	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163241380	163241380	8342	2	A	T	T	T	13	1	KCNH7	3	3
KCNH7	90134	broad.mit.edu	37	2	163374376	163374376	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163374376C>A	uc002uch.1	-	c.756G>T	c.(754-756)CTG>CTT	p.L252L	KCNH7_uc002uci.2_Silent_p.L252L	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	252	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)	3					Ibutilide(DB00308)	GBM(196;1492 2208 17507 24132 45496)								0.066667	-12.147115	31.642598	15	210	KEEP	---	---	---	---	capture		Silent	SNP	163374376	163374376	8342	2	C	A	A	A	314	25	KCNH7	2	2
KCNH7	90134	broad.mit.edu	37	2	163374397	163374397	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163374397G>C	uc002uch.1	-	c.735C>G	c.(733-735)GAC>GAG	p.D245E	KCNH7_uc002uci.2_Missense_Mutation_p.D245E	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	245	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)	3					Ibutilide(DB00308)	GBM(196;1492 2208 17507 24132 45496)								0.081967	8.239631	51.611412	20	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163374397	163374397	8342	2	G	C	C	C	568	44	KCNH7	3	3
SCN2A	6326	broad.mit.edu	37	2	166170198	166170198	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166170198A>T	uc002udc.2	+	c.1103A>T	c.(1102-1104)GAC>GTC	p.D368V	SCN2A_uc002udd.2_Missense_Mutation_p.D368V|SCN2A_uc002ude.2_Missense_Mutation_p.D368V	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	368	I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.104167	8.436414	30.891457	15	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166170198	166170198	14398	2	A	T	T	T	130	10	SCN2A	3	3
SCN7A	6332	broad.mit.edu	37	2	167262131	167262131	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167262131C>G	uc002udu.1	-	c.5008G>C	c.(5008-5010)GAC>CAC	p.D1670H		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1670					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.114108	89.808131	160.55567	55	427	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167262131	167262131	14405	2	C	G	G	G	377	29	SCN7A	3	3
XIRP2	129446	broad.mit.edu	37	2	168067256	168067256	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168067256C>T	uc002udx.2	+	c.574C>T	c.(574-576)CCT>TCT	p.P192S	XIRP2_uc010fpn.2_Missense_Mutation_p.P225S|XIRP2_uc010fpo.2_Missense_Mutation_p.P192S|XIRP2_uc010fpp.2_Missense_Mutation_p.P192S|XIRP2_uc002udy.2_Missense_Mutation_p.P17S|XIRP2_uc010fpq.2_5'UTR|XIRP2_uc010fpr.2_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	17					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.065517	-14.863663	41.924323	19	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168067256	168067256	18011	2	C	T	T	T	286	22	XIRP2	2	2
B3GALT1	8708	broad.mit.edu	37	2	168725727	168725727	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168725727C>A	uc002udz.1	+	c.178C>A	c.(178-180)CCA>ACA	p.P60T		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	60	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)	3														0.061453	-13.601578	22.310918	11	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168725727	168725727	1268	2	C	A	A	A	286	22	B3GALT1	2	2
KBTBD10	10324	broad.mit.edu	37	2	170367347	170367347	+	Silent	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170367347A>T	uc002ueu.1	+	c.1059A>T	c.(1057-1059)CTA>CTT	p.L353L	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	353	Kelch 1.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0														0.084034	1.266835	22.170812	10	109	KEEP	---	---	---	---	capture		Silent	SNP	170367347	170367347	8294	2	A	T	T	T	197	16	KBTBD10	3	3
SCRN3	79634	broad.mit.edu	37	2	175292571	175292571	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175292571A>T	uc002uiq.2	+	c.1223A>T	c.(1222-1224)AAA>ATA	p.K408I	SCRN3_uc010zen.1_Missense_Mutation_p.K401I|SCRN3_uc010zeo.1_Missense_Mutation_p.K206I|SCRN3_uc002uis.2_Missense_Mutation_p.K150I	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	secernin 3	408					proteolysis		dipeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.229)											0.111111	3.77556	9.157221	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175292571	175292571	14422	2	A	T	T	T	13	1	SCRN3	3	3
CHN1	1123	broad.mit.edu	37	2	175677131	175677131	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175677131C>G	uc002uji.2	-	c.792G>C	c.(790-792)AAG>AAC	p.K264N	CHN1_uc010zeq.1_Missense_Mutation_p.K238N|CHN1_uc002ujj.2_Missense_Mutation_p.K39N|CHN1_uc002ujg.2_Missense_Mutation_p.K139N	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	264					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)							265				0.119565	26.652961	52.677911	22	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175677131	175677131	3496	2	C	G	G	G	311	24	CHN1	3	3
TTN	7273	broad.mit.edu	37	2	179434379	179434379	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179434379C>A	uc010zfg.1	-	c.68776G>T	c.(68776-68778)GAC>TAC	p.D22926Y	TTN_uc010zfh.1_Missense_Mutation_p.D16621Y|TTN_uc010zfi.1_Missense_Mutation_p.D16554Y|TTN_uc010zfj.1_Missense_Mutation_p.D16429Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2691										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				0.133333	5.678144	9.594017	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179434379	179434379	17290	2	C	A	A	A	377	29	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179637970	179637970	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179637970G>C	uc010zfg.1	-	c.7721C>G	c.(7720-7722)CCC>CGC	p.P2574R	TTN_uc010zfh.1_Missense_Mutation_p.P2528R|TTN_uc010zfi.1_Missense_Mutation_p.P2528R|TTN_uc010zfj.1_Missense_Mutation_p.P2528R|TTN_uc002unb.2_Missense_Mutation_p.P2574R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2574										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				0.053571	-11.447217	12.111172	6	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179637970	179637970	17290	2	G	C	C	C	559	43	TTN	3	3
COL5A2	1290	broad.mit.edu	37	2	189922115	189922115	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189922115G>T	uc002uqk.2	-	c.2268C>A	c.(2266-2268)GGC>GGA	p.G756G	COL5A2_uc010frx.2_Silent_p.G332G	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	756					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.09816	8.423827	34.55588	16	147	KEEP	---	---	---	---	capture		Silent	SNP	189922115	189922115	3835	2	G	T	T	T	535	42	COL5A2	2	2
STAT4	6775	broad.mit.edu	37	2	191899317	191899317	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:191899317G>A	uc002usm.1	-	c.1577C>T	c.(1576-1578)TCT>TTT	p.S526F	STAT4_uc002usn.1_Missense_Mutation_p.S526F|STAT4_uc010zgk.1_Missense_Mutation_p.S371F|STAT4_uc002uso.2_Missense_Mutation_p.S526F	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	526					JAK-STAT cascade|regulation of transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)											0.03139	-39.668927	13.936769	7	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	191899317	191899317	15787	2	G	A	A	A	429	33	STAT4	2	2
SLC39A10	57181	broad.mit.edu	37	2	196573497	196573497	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196573497C>T	uc002utg.3	+	c.1504C>T	c.(1504-1506)CTA>TTA	p.L502L	SLC39A10_uc002uth.3_Silent_p.L502L|SLC39A10_uc010zgp.1_Silent_p.L52L	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	502	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.221)											0.105263	23.189448	55.562576	22	187	KEEP	---	---	---	---	capture		Silent	SNP	196573497	196573497	15110	2	C	T	T	T	415	32	SLC39A10	2	2
DNAH7	56171	broad.mit.edu	37	2	196822080	196822080	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196822080T>A	uc002utj.3	-	c.2983A>T	c.(2983-2985)AGC>TGC	p.S995C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	995	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.081871	1.043027	31.466394	14	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196822080	196822080	4789	2	T	A	A	A	715	55	DNAH7	3	3
FAM117B	150864	broad.mit.edu	37	2	203620382	203620382	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:203620382G>T	uc010zhx.1	+	c.1082G>T	c.(1081-1083)GGG>GTG	p.G361V		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	361										ovary(1)	1														0.136054	27.692955	46.569093	20	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203620382	203620382	5607	2	G	T	T	T	559	43	FAM117B	2	2
ICOS	29851	broad.mit.edu	37	2	204820546	204820546	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:204820546C>G	uc002vam.2	+	c.246C>G	c.(244-246)TTC>TTG	p.F82L	ICOS_uc010zip.1_Missense_Mutation_p.F82L|ICOS_uc010fua.2_Missense_Mutation_p.F82L	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator precursor	82	Ig-like V-type.|Extracellular (Potential).				immune response|T cell costimulation	extracellular region					0														0.063745	-10.019328	39.706563	16	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204820546	204820546	7786	2	C	G	G	G	415	32	ICOS	3	3
PIKFYVE	200576	broad.mit.edu	37	2	209190983	209190983	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209190983A>T	uc002vcz.2	+	c.3448A>T	c.(3448-3450)AGA>TGA	p.R1150*	PIKFYVE_uc010fun.1_Nonsense_Mutation_p.R831*|PIKFYVE_uc002vcy.1_Nonsense_Mutation_p.R1094*	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1150					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.154762	21.613574	31.19766	13	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	209190983	209190983	12348	2	A	T	T	T	192	15	PIKFYVE	5	3
CPS1	1373	broad.mit.edu	37	2	211504768	211504768	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211504768G>T	uc010fur.2	+	c.2962G>T	c.(2962-2964)GGT>TGT	p.G988C	CPS1_uc002vee.3_Missense_Mutation_p.G982C|CPS1_uc010fus.2_Missense_Mutation_p.G531C	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	982			G -> D (in CPS1D).		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.117647	27.230068	54.006982	22	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211504768	211504768	3961	2	G	T	T	T	611	47	CPS1	2	2
APOB	338	broad.mit.edu	37	2	21229477	21229477	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21229477C>A	uc002red.2	-	c.10263G>T	c.(10261-10263)ATG>ATT	p.M3421I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3421	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.036011	-61.273946	23.121602	13	348	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21229477	21229477	796	2	C	A	A	A	273	21	APOB	2	2
TMEM169	92691	broad.mit.edu	37	2	216960765	216960765	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:216960765G>T	uc010zjr.1	+	c.79G>T	c.(79-81)GCT>TCT	p.A27S	TMEM169_uc010zjs.1_Missense_Mutation_p.A27S|TMEM169_uc002vfw.2_Missense_Mutation_p.A27S|TMEM169_uc002vfv.3_Missense_Mutation_p.A27S	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	27	Extracellular (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.086538	1.449816	19.408328	9	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216960765	216960765	16618	2	G	T	T	T	598	46	TMEM169	2	2
UGT1A7	54577	broad.mit.edu	37	2	234591160	234591160	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234591160C>A	uc002vut.2	+	c.577C>A	c.(577-579)CTT>ATT	p.L193I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.L193I	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN	UDP glycosyltransferase 1 family, polypeptide A7	193					coumarin metabolic process|drug metabolic process|excretion|flavone metabolic process|negative regulation of fatty acid metabolic process|retinoic acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)										0.143149	107.774598	167.933991	70	419	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234591160	234591160	17508	2	C	A	A	A	260	20	UGT1A7	2	2
SH3BP4	23677	broad.mit.edu	37	2	235950275	235950275	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:235950275C>A	uc002vvp.2	+	c.862C>A	c.(862-864)CTA>ATA	p.L288I	SH3BP4_uc010fym.2_Missense_Mutation_p.L288I|SH3BP4_uc002vvq.2_Missense_Mutation_p.L288I	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	288					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			ovary(1)|skin(1)	2		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)										0.0625	-5.156151	10.770061	5	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235950275	235950275	14737	2	C	A	A	A	363	28	SH3BP4	2	2
LRRFIP1	9208	broad.mit.edu	37	2	238671518	238671518	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238671518G>C	uc002vxe.2	+	c.1162G>C	c.(1162-1164)GTT>CTT	p.V388L	LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.V364L|LRRFIP1_uc002vxf.2_Missense_Mutation_p.V332L	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting	388					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding|transcription repressor activity			breast(3)	3		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)										0.061728	-3.485339	12.738284	5	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238671518	238671518	9403	2	G	C	C	C	572	44	LRRFIP1	3	3
OTOF	9381	broad.mit.edu	37	2	26684976	26684976	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26684976T>G	uc002rhk.2	-	c.5266A>C	c.(5266-5268)AAG>CAG	p.K1756Q	OTOF_uc010yla.1_Missense_Mutation_p.K486Q|OTOF_uc002rhh.2_Missense_Mutation_p.K989Q|OTOF_uc002rhi.2_Missense_Mutation_p.K1066Q|OTOF_uc002rhj.2_Missense_Mutation_p.K989Q	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1756	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GBM(102;732 1451 20652 24062 31372)								0.069388	-0.838809	46.004712	17	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26684976	26684976	11715	2	T	G	G	G	806	62	OTOF	4	4
DPYSL5	56896	broad.mit.edu	37	2	27167549	27167549	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27167549G>C	uc002rhu.3	+	c.1466G>C	c.(1465-1467)CGC>CCC	p.R489P	DPYSL5_uc002rhv.3_Missense_Mutation_p.R489P	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	489					axon guidance|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.252212	148.51779	161.192182	57	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27167549	27167549	4934	2	G	C	C	C	494	38	DPYSL5	3	3
SLC5A6	8884	broad.mit.edu	37	2	27426162	27426162	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27426162C>T	uc002rjd.2	-	c.1146G>A	c.(1144-1146)CTG>CTA	p.L382L	SLC5A6_uc010eyv.1_Silent_p.L382L	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	382					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)									0.053476	-20.818357	18.548643	10	177	KEEP	---	---	---	---	capture		Silent	SNP	27426162	27426162	15166	2	C	T	T	T	366	29	SLC5A6	2	2
ZNF513	130557	broad.mit.edu	37	2	27601505	27601505	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27601505G>A	uc002rkk.2	-	c.628C>T	c.(628-630)CAC>TAC	p.H210Y	ZNF513_uc002rkj.2_Missense_Mutation_p.H148Y	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	210	C2H2-type 3.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	promoter binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.151515	8.35368	12.192305	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27601505	27601505	18552	2	G	A	A	A	611	47	ZNF513	2	2
C2orf71	388939	broad.mit.edu	37	2	29295044	29295044	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29295044T>A	uc002rmt.1	-	c.2084A>T	c.(2083-2085)GAA>GTA	p.E695V		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	695					response to stimulus|visual perception	photoreceptor outer segment					0														0.05036	-18.586791	11.250567	7	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29295044	29295044	2279	2	T	A	A	A	806	62	C2orf71	3	3
ALK	238	broad.mit.edu	37	2	29451871	29451871	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29451871C>T	uc002rmy.2	-	c.2694G>A	c.(2692-2694)GAG>GAA	p.E898E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	898	Gly-rich.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.135802	15.565808	25.982013	11	70	KEEP	---	---	---	---	capture		Silent	SNP	29451871	29451871	528	2	C	T	T	T	311	24	ALK	2	2
LCLAT1	253558	broad.mit.edu	37	2	30791025	30791025	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:30791025T>C	uc002rnj.2	+	c.725T>C	c.(724-726)GTA>GCA	p.V242A	LCLAT1_uc010ymp.1_Missense_Mutation_p.V80A|LCLAT1_uc002rnk.1_Missense_Mutation_p.V242A|LCLAT1_uc002rnl.2_Missense_Mutation_p.V204A|LCLAT1_uc010ymq.1_Missense_Mutation_p.V204A	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	242					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2														0.048611	-14.873226	16.292311	7	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30791025	30791025	9001	2	T	C	C	C	741	57	LCLAT1	4	4
XDH	7498	broad.mit.edu	37	2	31570420	31570420	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31570420C>T	uc002rnv.1	-	c.3244G>A	c.(3244-3246)GTC>ATC	p.V1082I		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1082					oxidation-reduction process|purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	Colon(66;682 1445 30109 40147)								0.192308	17.012341	21.624164	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31570420	31570420	18007	2	C	T	T	T	221	17	XDH	2	2
C2orf56	55471	broad.mit.edu	37	2	37464964	37464964	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37464964T>A	uc002rqa.3	+	c.362T>A	c.(361-363)GTG>GAG	p.V121E	C2orf56_uc010ynj.1_Non-coding_Transcript|C2orf56_uc002rqc.3_Missense_Mutation_p.V94E|C2orf56_uc010ynk.1_Missense_Mutation_p.V121E|C2orf56_uc010ynl.1_Missense_Mutation_p.V94E	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	121					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)												0.197452	74.444491	87.820402	31	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37464964	37464964	2265	2	T	A	A	A	767	59	C2orf56	3	3
DYNC2LI1	51626	broad.mit.edu	37	2	44032291	44032291	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44032291A>T	uc002rtl.2	+	c.904_splice	c.e12-2	p.S302_splice	DYNC2LI1_uc002rtj.2_Splice_Site_SNP_p.S301_splice|DYNC2LI1_uc002rtk.2_Splice_Site_SNP_p.S301_splice|DYNC2LI1_uc010ynz.1_Splice_Site_SNP_p.S175_splice	NM_016008	NP_057092			dynein 2 light intermediate chain isoform 1							apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.058394	-9.411498	18.58321	8	129	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	44032291	44032291	5033	2	A	T	T	T	91	7	DYNC2LI1	5	3
FOXN2	3344	broad.mit.edu	37	2	48573489	48573489	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48573489C>G	uc002rwh.1	+	c.136C>G	c.(136-138)CTA>GTA	p.L46V		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	46					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)											0.079812	3.825052	42.201223	17	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48573489	48573489	6266	2	C	G	G	G	415	32	FOXN2	3	3
NRXN1	9378	broad.mit.edu	37	2	50765550	50765550	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50765550C>A	uc010fbq.2	-	c.2104G>T	c.(2104-2106)GTT>TTT	p.V702F	NRXN1_uc002rxb.3_Missense_Mutation_p.V334F|NRXN1_uc002rxe.3_Missense_Mutation_p.V662F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.248196	428.972281	468.945749	172	521	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50765550	50765550	11070	2	C	A	A	A	260	20	NRXN1	2	2
CCT4	10575	broad.mit.edu	37	2	62107456	62107456	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:62107456G>C	uc002sbo.2	-	c.344C>G	c.(343-345)TCC>TGC	p.S115C	CCT4_uc010ypp.1_Missense_Mutation_p.S59C|CCT4_uc010ypq.1_Intron|CCT4_uc010ypr.1_Missense_Mutation_p.S59C|CCT4_uc010yps.1_Missense_Mutation_p.S85C	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	115					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)											0.111842	25.482654	48.090221	17	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62107456	62107456	3082	2	G	C	C	C	533	41	CCT4	3	3
PROKR1	10887	broad.mit.edu	37	2	68882357	68882357	+	Silent	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:68882357C>G	uc010yqj.1	+	c.831C>G	c.(829-831)CGC>CGG	p.R277R	PROKR1_uc002ses.2_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	277	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1														0.076923	-0.913071	8.592447	4	48	KEEP	---	---	---	---	capture		Silent	SNP	68882357	68882357	12995	2	C	G	G	G	353	28	PROKR1	3	3
RSAD2	91543	broad.mit.edu	37	2	7018038	7018038	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:7018038G>A	uc002qyp.1	+	c.107G>A	c.(106-108)AGG>AAG	p.R36K		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing	36					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)										0.098039	4.541937	12.783724	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7018038	7018038	14175	2	G	A	A	A	455	35	RSAD2	2	2
POLR1A	25885	broad.mit.edu	37	2	86258661	86258661	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86258661C>T	uc002sqs.2	-	c.4370G>A	c.(4369-4371)CGA>CAA	p.R1457Q	POLR1A_uc010ytb.1_Missense_Mutation_p.R823Q	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1457					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)	2														0.055556	-47.636501	53.487202	27	459	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86258661	86258661	12637	2	C	T	T	T	403	31	POLR1A	1	1
CPSF3	51692	broad.mit.edu	37	2	9574073	9574073	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:9574073C>G	uc002qzo.1	+	c.593C>G	c.(592-594)CCT>CGT	p.P198R	CPSF3_uc010ewx.1_Missense_Mutation_p.P198R|CPSF3_uc002qzp.1_Missense_Mutation_p.P161R	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	198					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		Colon(194;1259 2048 3845 5218 19985)								0.061728	-3.594223	12.63715	5	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9574073	9574073	3964	2	C	G	G	G	312	24	CPSF3	3	3
NIT2	56954	broad.mit.edu	37	3	100058772	100058772	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100058772C>A	uc003dtv.2	+	c.240C>A	c.(238-240)CTC>CTA	p.L80L	NIT2_uc011bha.1_Silent_p.L80L	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	80	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1														0.125	22.340157	42.135315	18	126	KEEP	---	---	---	---	capture		Silent	SNP	100058772	100058772	10835	3	C	A	A	A	366	29	NIT2	2	2
IMPG2	50939	broad.mit.edu	37	3	100992538	100992538	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100992538C>A	uc003duq.1	-	c.715G>T	c.(715-717)GGT>TGT	p.G239C	IMPG2_uc011bhe.1_Missense_Mutation_p.G102C	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	239	Extracellular (Potential).|SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3														0.102041	7.178139	22.652169	10	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100992538	100992538	8030	3	C	A	A	A	312	24	IMPG2	2	2
IMPG2	50939	broad.mit.edu	37	3	101038618	101038618	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101038618G>A	uc003duq.1	-	c.144C>T	c.(142-144)CTC>CTT	p.L48L	IMPG2_uc011bhe.1_5'UTR	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	48	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3														0.148607	75.996552	114.280535	48	275	KEEP	---	---	---	---	capture		Silent	SNP	101038618	101038618	8030	3	G	A	A	A	522	41	IMPG2	2	2
KIAA1524	57650	broad.mit.edu	37	3	108278852	108278852	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108278852C>A	uc003dxb.3	-	c.1851G>T	c.(1849-1851)GTG>GTT	p.V617V		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	617						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3														0.115385	12.817282	27.980612	12	92	KEEP	---	---	---	---	capture		Silent	SNP	108278852	108278852	8548	3	C	A	A	A	366	29	KIAA1524	2	2
GRAMD1C	54762	broad.mit.edu	37	3	113627906	113627906	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113627906C>G	uc003eaq.3	+	c.891C>G	c.(889-891)GAC>GAG	p.D297E	GRAMD1C_uc011bil.1_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.2_Missense_Mutation_p.D130E|GRAMD1C_uc003eas.2_Missense_Mutation_p.D92E	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	297						integral to membrane				ovary(2)	2														0.037313	-18.046994	13.016526	5	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113627906	113627906	7025	3	C	G	G	G	259	20	GRAMD1C	3	3
LSAMP	4045	broad.mit.edu	37	3	116163796	116163796	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:116163796G>C	uc011bis.1	-	c.83C>G	c.(82-84)CCT>CGT	p.P28R	LSAMP_uc003ebt.2_Missense_Mutation_p.P28R|LSAMP_uc010hqq.1_Non-coding_Transcript	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	28					cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)										0.086957	1.460616	17.326273	8	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116163796	116163796	9424	3	G	C	C	C	455	35	LSAMP	3	3
C3orf31	132001	broad.mit.edu	37	3	11832011	11832011	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:11832011T>C	uc003bwj.2	-	c.982A>G	c.(982-984)ATG>GTG	p.M328V	C3orf31_uc003bwh.2_Missense_Mutation_p.M307V|C3orf31_uc003bwi.2_Non-coding_Transcript	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	307					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0														0.032727	-44.306057	21.194617	9	266	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11832011	11832011	2314	3	T	C	C	C	676	52	C3orf31	4	4
POPDC2	64091	broad.mit.edu	37	3	119373360	119373360	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119373360C>A	uc003ecx.1	-	c.592G>T	c.(592-594)GTG>TTG	p.V198L	POPDC2_uc010hqw.1_Missense_Mutation_p.V198L|POPDC2_uc003ecy.1_Missense_Mutation_p.V16L	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	popeye protein 2	198						integral to membrane				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.242)										0.102941	14.255498	46.110896	21	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119373360	119373360	12684	3	C	A	A	A	234	18	POPDC2	2	2
NR1I2	8856	broad.mit.edu	37	3	119531736	119531736	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119531736C>T	uc003edk.2	+	c.840C>T	c.(838-840)CCC>CCT	p.P280P	NR1I2_uc003edi.2_Silent_p.P204P|NR1I2_uc003edj.2_Silent_p.P241P|NR1I2_uc003edl.2_Silent_p.P129P	NM_022002	NP_071285	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	241	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)									0.173913	13.267625	17.890511	8	38	KEEP	---	---	---	---	capture		Silent	SNP	119531736	119531736	11025	3	C	T	T	T	275	22	NR1I2	2	2
STXBP5L	9515	broad.mit.edu	37	3	120976095	120976095	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120976095C>A	uc003eec.3	+	c.1747C>A	c.(1747-1749)CAG>AAG	p.Q583K	STXBP5L_uc011bji.1_Missense_Mutation_p.Q583K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	583	WD 9.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.155251	60.402443	85.273141	34	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120976095	120976095	15877	3	C	A	A	A	273	21	STXBP5L	2	2
COPG	22820	broad.mit.edu	37	3	128987441	128987441	+	Silent	SNP	G	A	A	rs36085946		TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128987441G>A	uc003els.2	+	c.1752G>A	c.(1750-1752)GCG>GCA	p.A584A	COPG_uc010htb.2_Silent_p.A490A	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	584					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4														0.12	13.279891	27.408522	12	88	KEEP	---	---	---	---	capture		Silent	SNP	128987441	128987441	3869	3	G	A	A	A	483	38	COPG	1	1
COL6A6	131873	broad.mit.edu	37	3	130285829	130285829	+	Silent	SNP	A	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130285829A>C	uc010htl.2	+	c.1566A>C	c.(1564-1566)ACA>ACC	p.T522T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	522	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.1	6.942688	19.734365	8	72	KEEP	---	---	---	---	capture		Silent	SNP	130285829	130285829	3841	3	A	C	C	C	67	6	COL6A6	4	4
TMEM22	80723	broad.mit.edu	37	3	136573446	136573446	+	Silent	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:136573446T>C	uc003erf.3	+	c.144T>C	c.(142-144)TTT>TTC	p.F48F	TMEM22_uc003erg.3_Silent_p.F48F|TMEM22_uc010hub.2_Silent_p.F48F	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	48						Golgi apparatus|integral to membrane				ovary(1)	1														0.02847	-100.267849	37.269938	16	546	KEEP	---	---	---	---	capture		Silent	SNP	136573446	136573446	16679	3	T	C	C	C	790	61	TMEM22	4	4
ZBTB38	253461	broad.mit.edu	37	3	141162101	141162101	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141162101G>A	uc010hup.2	+	c.874G>A	c.(874-876)GAG>AAG	p.E292K	ZBTB38_uc003etw.2_Missense_Mutation_p.E291K|ZBTB38_uc010hun.2_Missense_Mutation_p.E288K|ZBTB38_uc010huo.2_Missense_Mutation_p.E291K|ZBTB38_uc003ety.2_Missense_Mutation_p.E291K	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	291					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.0625	-21.041191	39.623248	19	285	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141162101	141162101	18125	3	G	A	A	A	429	33	ZBTB38	2	2
ZBTB38	253461	broad.mit.edu	37	3	141162113	141162113	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141162113G>A	uc010hup.2	+	c.886G>A	c.(886-888)GAA>AAA	p.E296K	ZBTB38_uc003etw.2_Missense_Mutation_p.E295K|ZBTB38_uc010hun.2_Missense_Mutation_p.E292K|ZBTB38_uc010huo.2_Missense_Mutation_p.E295K|ZBTB38_uc003ety.2_Missense_Mutation_p.E295K	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	295					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.049536	-42.494552	27.197315	16	307	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141162113	141162113	18125	3	G	A	A	A	429	33	ZBTB38	2	2
ZBTB38	253461	broad.mit.edu	37	3	141162117	141162117	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141162117G>A	uc010hup.2	+	c.890G>A	c.(889-891)AGA>AAA	p.R297K	ZBTB38_uc003etw.2_Missense_Mutation_p.R296K|ZBTB38_uc010hun.2_Missense_Mutation_p.R293K|ZBTB38_uc010huo.2_Missense_Mutation_p.R296K|ZBTB38_uc003ety.2_Missense_Mutation_p.R296K	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	296					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.040752	-51.315786	21.200361	13	306	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141162117	141162117	18125	3	G	A	A	A	429	33	ZBTB38	2	2
SLC9A9	285195	broad.mit.edu	37	3	142985598	142985598	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142985598C>A	uc003evn.2	-	c.1884G>T	c.(1882-1884)CTG>CTT	p.L628L		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	628					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)	2														0.125874	21.63793	41.217062	18	125	KEEP	---	---	---	---	capture		Silent	SNP	142985598	142985598	15218	3	C	A	A	A	262	21	SLC9A9	2	2
PLOD2	5352	broad.mit.edu	37	3	145809621	145809621	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:145809621C>A	uc003evr.1	-	c.845G>T	c.(844-846)TGT>TTT	p.C282F	PLOD2_uc011bnm.1_Missense_Mutation_p.C227F|PLOD2_uc003evs.1_Missense_Mutation_p.C282F	NM_182943	NP_891988	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	282					oxidation-reduction process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)	1					Vitamin C(DB00126)									0.088235	3.400415	15.05218	6	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145809621	145809621	12528	3	C	A	A	A	221	17	PLOD2	2	2
ZIC1	7545	broad.mit.edu	37	3	147130438	147130438	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147130438G>T	uc003ewe.2	+	c.1116G>T	c.(1114-1116)ACG>ACT	p.T372T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	372	C2H2-type 5.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|regulation of smoothened signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.054726	-21.953522	20.134524	11	190	KEEP	---	---	---	---	capture		Silent	SNP	147130438	147130438	18269	3	G	T	T	T	483	38	ZIC1	1	1
IGSF10	285313	broad.mit.edu	37	3	151164733	151164733	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151164733C>A	uc011bod.1	-	c.3036G>T	c.(3034-3036)AGG>AGT	p.R1012S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1012					cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)											0.161616	59.17018	80.739947	32	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151164733	151164733	7898	3	C	A	A	A	337	26	IGSF10	2	2
SI	6476	broad.mit.edu	37	3	164741463	164741463	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164741463G>T	uc003fei.2	-	c.2994C>A	c.(2992-2994)GAC>GAA	p.D998E		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	998	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)									0.095833	11.279453	50.585455	23	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164741463	164741463	14792	3	G	T	T	T	568	44	SI	2	2
SI	6476	broad.mit.edu	37	3	164785153	164785153	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164785153T>C	uc003fei.2	-	c.610A>G	c.(610-612)ATT>GTT	p.I204V		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	204	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)									0.13	24.614972	37.926052	13	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164785153	164785153	14792	3	T	C	C	C	637	49	SI	4	4
SLITRK3	22865	broad.mit.edu	37	3	164907998	164907998	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164907998C>T	uc003fej.3	-	c.621G>A	c.(619-621)AGG>AGA	p.R207R	SLITRK3_uc003fek.2_Silent_p.R207R	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	207	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(6)|pancreas(1)	7														0.045249	-34.061373	14.986203	10	211	KEEP	---	---	---	---	capture		Silent	SNP	164907998	164907998	15242	3	C	T	T	T	233	18	SLITRK3	2	2
ZBBX	79740	broad.mit.edu	37	3	167045801	167045801	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167045801T>A	uc011bpc.1	-	c.791A>T	c.(790-792)GAA>GTA	p.E264V	ZBBX_uc003fep.2_Missense_Mutation_p.E264V|ZBBX_uc003feq.2_Missense_Mutation_p.E235V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	264						intracellular	zinc ion binding			ovary(2)	2														0.029921	-125.095535	29.024899	19	616	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167045801	167045801	18100	3	T	A	A	A	806	62	ZBBX	3	3
PLCL2	23228	broad.mit.edu	37	3	17052825	17052825	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17052825G>C	uc011awc.1	+	c.1963G>C	c.(1963-1965)GAC>CAC	p.D655H	PLCL2_uc011awd.1_Missense_Mutation_p.D537H	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	663	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2														0.038043	-26.805681	15.639803	7	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17052825	17052825	12466	3	G	C	C	C	533	41	PLCL2	3	3
PEX5L	51555	broad.mit.edu	37	3	179615932	179615932	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179615932G>C	uc003fki.1	-	c.196C>G	c.(196-198)CAG>GAG	p.Q66E	PEX5L_uc011bqd.1_Missense_Mutation_p.Q23E|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_Missense_Mutation_p.Q23E|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Missense_Mutation_p.Q64E|PEX5L_uc011bqg.1_Missense_Mutation_p.Q42E|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	66					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)							648				0.114754	17.838895	35.744653	14	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179615932	179615932	12171	3	G	C	C	C	624	48	PEX5L	3	3
CCDC39	339829	broad.mit.edu	37	3	180377327	180377327	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180377327A>T	uc010hxe.2	-	c.651T>A	c.(649-651)CAT>CAA	p.H217Q	CCDC39_uc003fkn.2_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	217	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)											0.088757	5.1078	33.978935	15	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180377327	180377327	2933	3	A	T	T	T	206	16	CCDC39	3	3
ALG3	10195	broad.mit.edu	37	3	183960733	183960733	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183960733G>A	uc003fne.2	-	c.1022C>T	c.(1021-1023)ACC>ATC	p.T341I	ALG3_uc011brc.1_Missense_Mutation_p.T306I|ALG3_uc011brd.1_Missense_Mutation_p.T285I|ALG3_uc011bre.1_Missense_Mutation_p.T293I	NM_005787	NP_005778	Q92685	ALG3_HUMAN	alpha-1,3-mannosyltransferase ALG3 isoform a	341	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase activity				0	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.235294	8.406074	9.485738	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183960733	183960733	523	3	G	A	A	A	572	44	ALG3	2	2
ATP13A5	344905	broad.mit.edu	37	3	193032855	193032855	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:193032855C>A	uc011bsq.1	-	c.2064G>T	c.(2062-2064)CTG>CTT	p.L688L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	688					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|large_intestine(2)	7	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)						699				0.140271	48.177745	75.790291	31	190	KEEP	---	---	---	---	capture		Silent	SNP	193032855	193032855	1146	3	C	A	A	A	262	21	ATP13A5	2	2
FBXO45	200933	broad.mit.edu	37	3	196311060	196311060	+	Silent	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:196311060A>G	uc010iai.2	+	c.732A>G	c.(730-732)GAA>GAG	p.E244E		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	F-box protein 45	244	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			skin(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)										0.109756	13.51638	25.874252	9	73	KEEP	---	---	---	---	capture		Silent	SNP	196311060	196311060	5991	3	A	G	G	G	24	2	FBXO45	4	4
SGOL1	151648	broad.mit.edu	37	3	20216189	20216189	+	Silent	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:20216189T>C	uc003cbs.2	-	c.834A>G	c.(832-834)GAA>GAG	p.E278E	SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Silent_p.E278E|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Silent_p.E278E|SGOL1_uc003cca.2_Silent_p.E278E|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	278	Potential.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0														0.125	14.863739	26.961928	11	77	KEEP	---	---	---	---	capture		Silent	SNP	20216189	20216189	14707	3	T	C	C	C	777	60	SGOL1	4	4
ZNF660	285349	broad.mit.edu	37	3	44636579	44636579	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44636579G>C	uc003cnl.1	+	c.894G>C	c.(892-894)AAG>AAC	p.K298N		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)										0.103093	11.878278	27.095895	10	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44636579	44636579	18665	3	G	C	C	C	451	35	ZNF660	3	3
ZNF197	10168	broad.mit.edu	37	3	44688007	44688007	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44688007G>A	uc003cnn.2	+	c.794G>A	c.(793-795)AGG>AAG	p.R265K	ZNF35_uc003cnq.2_5'Flank|ZNF35_uc003cnr.2_5'Flank|ZNF197_uc003cno.2_Non-coding_Transcript|ZNF197_uc003cnp.2_Missense_Mutation_p.R265K	NM_001024855	NP_001020026	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 2	Error:Variant_position_missing_in_O14709_after_alignment					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)										0.117647	7.745557	15.048714	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44688007	44688007	18350	3	G	A	A	A	455	35	ZNF197	2	2
VPRBP	9730	broad.mit.edu	37	3	51457358	51457358	+	Silent	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51457358T>C	uc003dbe.1	-	c.3066A>G	c.(3064-3066)CCA>CCG	p.P1022P	VPRBP_uc003dbf.1_Silent_p.P298P	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	1022					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)										0.05	-22.317926	20.658496	10	190	KEEP	---	---	---	---	capture		Silent	SNP	51457358	51457358	17752	3	T	C	C	C	704	55	VPRBP	4	4
ITIH1	3697	broad.mit.edu	37	3	52811656	52811656	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52811656G>A	uc003dfs.2	+	c.25G>A	c.(25-27)GGG>AGG	p.G9R	ITIH1_uc010hmn.1_Non-coding_Transcript	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	9					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)										0.157303	26.497369	36.383699	14	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52811656	52811656	8207	3	G	A	A	A	559	43	ITIH1	2	2
SLMAP	7871	broad.mit.edu	37	3	57908711	57908711	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:57908711T>A	uc003dje.1	+	c.2355T>A	c.(2353-2355)TGT>TGA	p.C785*	SLMAP_uc003djd.1_Nonsense_Mutation_p.C768*|SLMAP_uc003djf.1_Nonsense_Mutation_p.C747*|SLMAP_uc003djg.1_Nonsense_Mutation_p.C379*|SLMAP_uc011bez.1_Nonsense_Mutation_p.C253*|SLMAP_uc011bfa.1_Nonsense_Mutation_p.C319*|SLMAP_uc003dji.1_Nonsense_Mutation_p.C319*|SLMAP_uc011bfb.1_Nonsense_Mutation_p.C319*|SLMAP_uc011bfc.1_Nonsense_Mutation_p.C278*	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	785	Cytoplasmic (Potential).|Potential.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)										0.161972	42.462139	57.872498	23	119	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57908711	57908711	15247	3	T	A	A	A	738	57	SLMAP	5	3
FLNB	2317	broad.mit.edu	37	3	58109130	58109130	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58109130G>A	uc010hne.2	+	c.3437G>A	c.(3436-3438)GGG>GAG	p.G1146E	FLNB_uc003djj.2_Missense_Mutation_p.G1146E|FLNB_uc003djk.2_Missense_Mutation_p.G1146E|FLNB_uc010hnf.2_Missense_Mutation_p.G1146E|FLNB_uc003djl.2_Missense_Mutation_p.G977E|FLNB_uc003djm.2_Missense_Mutation_p.G977E	NM_001164317	NP_001157789	O75369	FLNB_HUMAN	filamin B isoform 1	1146	Interaction with FBLP1.|Filamin 10.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(6)|ovary(3)	9				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)						676				0.130435	26.166614	44.495192	18	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58109130	58109130	6176	3	G	A	A	A	559	43	FLNB	2	2
FLNB	2317	broad.mit.edu	37	3	58109141	58109141	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58109141G>A	uc010hne.2	+	c.3448G>A	c.(3448-3450)GAA>AAA	p.E1150K	FLNB_uc003djj.2_Missense_Mutation_p.E1150K|FLNB_uc003djk.2_Missense_Mutation_p.E1150K|FLNB_uc010hnf.2_Missense_Mutation_p.E1150K|FLNB_uc003djl.2_Missense_Mutation_p.E981K|FLNB_uc003djm.2_Missense_Mutation_p.E981K	NM_001164317	NP_001157789	O75369	FLNB_HUMAN	filamin B isoform 1	1150	Interaction with FBLP1.|Filamin 10.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(6)|ovary(3)	9				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)						676				0.088	1.789367	23.201788	11	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58109141	58109141	6176	3	G	A	A	A	585	45	FLNB	2	2
EPHA3	2042	broad.mit.edu	37	3	89259568	89259568	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89259568G>T	uc003dqy.2	+	c.712G>T	c.(712-714)GAT>TAT	p.D238Y	EPHA3_uc003dqx.1_Missense_Mutation_p.D238Y|EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	238	Extracellular (Potential).|Cys-rich.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.043243	-109.352428	56.215442	32	708	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89259568	89259568	5361	3	G	T	T	T	429	33	EPHA3	2	2
MTMR14	64419	broad.mit.edu	37	3	9743548	9743548	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9743548C>A	uc003brz.2	+	c.1844C>A	c.(1843-1845)ACA>AAA	p.T615K	MTMR14_uc003bsa.2_Missense_Mutation_p.T563K|MTMR14_uc003bsb.2_Missense_Mutation_p.T503K|MTMR14_uc011ath.1_Non-coding_Transcript|MTMR14_uc010hcl.2_Missense_Mutation_p.T257K|MTMR14_uc003bsc.2_Non-coding_Transcript|CPNE9_uc003bsd.2_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	615						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity				0	Medulloblastoma(99;0.227)													0.086957	1.369315	9.309567	4	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9743548	9743548	10335	3	C	A	A	A	221	17	MTMR14	2	2
EPHA6	285220	broad.mit.edu	37	3	97467522	97467522	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97467522C>A	uc010how.1	+	c.3370C>A	c.(3370-3372)CAG>AAG	p.Q1124K		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	1029	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.060606	-5.357956	7.963323	4	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97467522	97467522	5364	3	C	A	A	A	221	17	EPHA6	2	2
CENPE	1062	broad.mit.edu	37	4	104068758	104068758	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104068758C>T	uc003hxb.1	-	c.3889G>A	c.(3889-3891)GAA>AAA	p.E1297K	CENPE_uc003hxc.1_Missense_Mutation_p.E1272K	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1297	Potential.			E -> K (in Ref. 1; CAA78727).	blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)										0.033557	-25.461011	9.888536	5	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104068758	104068758	3363	4	C	T	T	T	416	32	CENPE	2	2
SYNPO2	171024	broad.mit.edu	37	4	119978565	119978565	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119978565C>A	uc010inb.2	+	c.3262C>A	c.(3262-3264)CGC>AGC	p.R1088S	SYNPO2_uc011cgh.1_Silent_p.G89G|SYNPO2_uc010inc.2_Missense_Mutation_p.R958S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	718						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.251534	103.352522	112.458587	41	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119978565	119978565	15978	4	C	A	A	A	351	27	SYNPO2	1	1
TRPC3	7222	broad.mit.edu	37	4	122853999	122853999	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122853999C>A	uc003ieg.2	-	c.414G>T	c.(412-414)CTG>CTT	p.L138L	TRPC3_uc010inr.2_Silent_p.L65L|TRPC3_uc003ief.2_Silent_p.L65L|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	53	Cytoplasmic (Potential).|ANK 1.				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2														0.147059	14.403041	22.545188	10	58	KEEP	---	---	---	---	capture		Silent	SNP	122853999	122853999	17130	4	C	A	A	A	366	29	TRPC3	2	2
KIAA1109	84162	broad.mit.edu	37	4	123222457	123222457	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123222457G>T	uc003ieh.2	+	c.9391G>T	c.(9391-9393)GGG>TGG	p.G3131W	KIAA1109_uc003iel.1_Missense_Mutation_p.G1066W	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3131					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.181818	16.270501	20.458749	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123222457	123222457	8516	4	G	T	T	T	611	47	KIAA1109	2	2
FAT4	79633	broad.mit.edu	37	4	126389741	126389741	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126389741G>C	uc003ifj.3	+	c.11974G>C	c.(11974-11976)GAC>CAC	p.D3992H	FAT4_uc011cgp.1_Missense_Mutation_p.D2255H|FAT4_uc003ifi.1_Missense_Mutation_p.D1470H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3992	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.04717	-12.715839	10.447358	5	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126389741	126389741	5928	4	G	C	C	C	533	41	FAT4	3	3
FGA	2243	broad.mit.edu	37	4	155507932	155507932	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155507932C>A	uc003iod.1	-	c.649G>T	c.(649-651)GAT>TAT	p.D217Y	FGA_uc003ioe.1_Missense_Mutation_p.D217Y|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	217	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	NSCLC(143;340 1922 20892 22370 48145)								0.063953	-13.825765	20.217101	11	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155507932	155507932	6067	4	C	A	A	A	416	32	FGA	2	2
RXFP1	59350	broad.mit.edu	37	4	159533309	159533309	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159533309C>T	uc011cje.1	+	c.645C>T	c.(643-645)TTC>TTT	p.F215F	RXFP1_uc010iqj.1_Silent_p.F17F|RXFP1_uc003ipz.2_Silent_p.F188F|RXFP1_uc011cja.1_Silent_p.F107F|RXFP1_uc010iqo.2_Silent_p.F188F|RXFP1_uc011cjb.1_Silent_p.F134F|RXFP1_uc010iqk.2_Silent_p.F56F|RXFP1_uc011cjc.1_Silent_p.F107F|RXFP1_uc011cjd.1_Silent_p.F107F|RXFP1_uc010iql.2_Silent_p.F56F|RXFP1_uc010iqm.2_Silent_p.F155F|RXFP1_uc011cjf.1_Silent_p.F58F|RXFP1_uc010iqn.2_Silent_p.F134F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	188	Extracellular (Potential).|LRR 2.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)										0.07932	0.157025	63.901896	28	325	KEEP	---	---	---	---	capture		Silent	SNP	159533309	159533309	14239	4	C	T	T	T	389	30	RXFP1	2	2
DDX60L	91351	broad.mit.edu	37	4	169342946	169342946	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169342946C>A	uc003irq.3	-	c.2359G>T	c.(2359-2361)GAT>TAT	p.D787Y	DDX60L_uc003irr.1_Missense_Mutation_p.D787Y|DDX60L_uc003irs.1_Missense_Mutation_p.D514Y	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	787	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)										0.189702	151.340189	184.570527	70	299	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169342946	169342946	4550	4	C	A	A	A	403	31	DDX60L	1	1
MFAP3L	9848	broad.mit.edu	37	4	170913210	170913210	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170913210C>G	uc003isp.3	-	c.549G>C	c.(547-549)GAG>GAC	p.E183D	MFAP3L_uc003isn.3_Missense_Mutation_p.E80D	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	183	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)										0.103825	24.382262	52.971917	19	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170913210	170913210	9906	4	C	G	G	G	415	32	MFAP3L	3	3
GALNTL6	442117	broad.mit.edu	37	4	173232803	173232803	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:173232803G>A	uc003isv.2	+	c.286G>A	c.(286-288)GAG>AAG	p.E96K		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	96	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)	3														0.145833	102.767031	149.060723	56	328	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173232803	173232803	6489	4	G	A	A	A	429	33	GALNTL6	2	2
ACSL1	2180	broad.mit.edu	37	4	185681563	185681563	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:185681563T>C	uc003iww.2	-	c.1730A>G	c.(1729-1731)TAC>TGC	p.Y577C	ACSL1_uc011ckm.1_Missense_Mutation_p.Y406C|ACSL1_uc003iwt.1_Missense_Mutation_p.Y577C|ACSL1_uc003iwu.1_Missense_Mutation_p.Y577C|ACSL1_uc011ckn.1_Missense_Mutation_p.Y543C|ACSL1_uc003iws.1_Missense_Mutation_p.Y137C	NM_001995	NP_001986	P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	577	Cytoplasmic (Potential).				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(2)	2		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.165075	286.490221	364.455082	121	612	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185681563	185681563	178	4	T	C	C	C	741	57	ACSL1	4	4
CYP4V2	285440	broad.mit.edu	37	4	187118744	187118744	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187118744G>T	uc003iyw.3	+	c.662G>T	c.(661-663)CGT>CTT	p.R221L		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily v,	221					oxidation-reduction process|response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity				0		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)										0.058333	-7.766532	16.756562	7	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187118744	187118744	4357	4	G	T	T	T	520	40	CYP4V2	1	1
ZFP42	132625	broad.mit.edu	37	4	188923993	188923993	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:188923993C>G	uc003izg.1	+	c.32C>G	c.(31-33)ACA>AGA	p.T11R	ZFP42_uc003izh.1_Missense_Mutation_p.T11R|ZFP42_uc003izi.1_Missense_Mutation_p.T11R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	11					female gonad development|male gonad development|meiosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)										0.14	26.978419	39.495773	14	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188923993	188923993	18238	4	C	G	G	G	221	17	ZFP42	3	3
GPR125	166647	broad.mit.edu	37	4	22389682	22389682	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:22389682G>A	uc003gqm.1	-	c.3612C>T	c.(3610-3612)AAC>AAT	p.N1204N	GPR125_uc010ieo.1_Silent_p.N1060N|GPR125_uc003gql.1_Silent_p.N331N	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1204	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity				0		Breast(46;0.198)												0.0875	2.584579	43.846526	21	219	KEEP	---	---	---	---	capture		Silent	SNP	22389682	22389682	6913	4	G	A	A	A	516	40	GPR125	1	1
CCKAR	886	broad.mit.edu	37	4	26491865	26491865	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:26491865C>G	uc003gse.1	-	c.25G>C	c.(25-27)GTG>CTG	p.V9L		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	9	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			pancreas(1)	1		Breast(46;0.0503)			Ceruletide(DB00403)									0.042105	-11.974814	9.411004	4	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26491865	26491865	3005	4	C	G	G	G	221	17	CCKAR	3	3
KCTD8	386617	broad.mit.edu	37	4	44176935	44176935	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:44176935C>G	uc003gwu.2	-	c.1294G>C	c.(1294-1296)GAG>CAG	p.E432Q		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	432						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3														0.051322	-51.942183	85.055052	33	610	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44176935	44176935	8421	4	C	G	G	G	377	29	KCTD8	3	3
GABRA4	2557	broad.mit.edu	37	4	46930674	46930674	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46930674G>T	uc003gxg.2	-	c.1233C>A	c.(1231-1233)AGC>AGA	p.S411R		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	411	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.064327	-11.12233	22.636044	11	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46930674	46930674	6414	4	G	T	T	T	594	46	GABRA4	2	2
LRRC66	339977	broad.mit.edu	37	4	52863952	52863952	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52863952C>T	uc003gzi.2	-	c.818G>A	c.(817-819)TGG>TAG	p.W273*		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	273						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.079903	2.251331	76.614778	33	380	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52863952	52863952	9393	4	C	T	T	T	273	21	LRRC66	5	2
KDR	3791	broad.mit.edu	37	4	55958791	55958791	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55958791G>A	uc003has.2	-	c.3062C>T	c.(3061-3063)TCG>TTG	p.S1021L	KDR_uc003hat.1_Missense_Mutation_p.S1021L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1021	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.122302	22.284469	41.694378	17	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55958791	55958791	8445	4	G	A	A	A	481	37	KDR	1	1
C4orf14	84273	broad.mit.edu	37	4	57843023	57843023	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57843023C>T	uc003hck.2	-	c.729G>A	c.(727-729)CTG>CTA	p.L243L	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	243							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)													0.156627	19.224627	28.568074	13	70	KEEP	---	---	---	---	capture		Silent	SNP	57843023	57843023	2346	4	C	T	T	T	366	29	C4orf14	2	2
JAKMIP1	152789	broad.mit.edu	37	4	6086622	6086622	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:6086622C>T	uc010idb.1	-	c.905G>A	c.(904-906)CGG>CAG	p.R302Q	JAKMIP1_uc010idc.1_Missense_Mutation_p.R137Q|JAKMIP1_uc010idd.1_Missense_Mutation_p.R302Q|JAKMIP1_uc003giu.3_Missense_Mutation_p.R302Q|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R137Q|JAKMIP1_uc003giv.3_Missense_Mutation_p.R302Q|JAKMIP1_uc010ide.2_Missense_Mutation_p.R302Q	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	302	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|ovary(1)|pancreas(1)	3														0.075441	-4.790682	110.298113	47	576	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6086622	6086622	8244	4	C	T	T	T	299	23	JAKMIP1	1	1
UGT2B4	7363	broad.mit.edu	37	4	70360959	70360959	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70360959G>C	uc003hek.3	-	c.621C>G	c.(619-621)TTC>TTG	p.F207L	UGT2B4_uc011cap.1_Missense_Mutation_p.F71L|UGT2B4_uc003hel.3_Missense_Mutation_p.F207L	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	207					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.22449	63.596299	70.432985	22	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70360959	70360959	17519	4	G	C	C	C	581	45	UGT2B4	3	3
GC	2638	broad.mit.edu	37	4	72631257	72631257	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:72631257C>G	uc010iif.2	-	c.422G>C	c.(421-423)TGC>TCC	p.C141S	GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.C122S|GC_uc003hge.2_Missense_Mutation_p.C122S	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	122	Albumin 1.				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)									0.037634	-27.841757	15.195238	7	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72631257	72631257	6548	4	C	G	G	G	325	25	GC	3	3
ADAMTS3	9508	broad.mit.edu	37	4	73186481	73186481	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73186481T>G	uc003hgk.1	-	c.1052A>C	c.(1051-1053)GAC>GCC	p.D351A		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	351	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			NSCLC(168;1941 2048 2918 13048 43078)								0.034653	-31.631551	15.937975	7	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73186481	73186481	268	4	T	G	G	G	754	58	ADAMTS3	4	4
BTC	685	broad.mit.edu	37	4	75681169	75681169	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:75681169T>G	uc003hig.2	-	c.181A>C	c.(181-183)AAG>CAG	p.K61Q		NM_001729	NP_001720	P35070	BTC_HUMAN	betacellulin precursor	61	Extracellular (Potential).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)	1			Lung(101;0.219)											0.06087	-22.574898	70.138804	28	432	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75681169	75681169	1583	4	T	G	G	G	832	64	BTC	4	4
SPARCL1	8404	broad.mit.edu	37	4	88400665	88400665	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88400665G>A	uc010ikm.2	-	c.1883C>T	c.(1882-1884)ACC>ATC	p.T628I	SPARCL1_uc011cdc.1_Missense_Mutation_p.T503I|SPARCL1_uc003hqs.3_Missense_Mutation_p.T628I|SPARCL1_uc011cdd.1_Missense_Mutation_p.T503I	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	628	EF-hand.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;0.00118)										0.041916	-24.216166	13.434185	7	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88400665	88400665	15504	4	G	A	A	A	572	44	SPARCL1	2	2
PDHA2	5161	broad.mit.edu	37	4	96761628	96761628	+	Silent	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96761628G>C	uc003htr.3	+	c.327G>C	c.(325-327)TCG>TCC	p.S109S		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	109					glycolysis|oxidation-reduction process	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)									0.186147	85.441842	106.731563	43	188	KEEP	---	---	---	---	capture		Silent	SNP	96761628	96761628	12086	4	G	C	C	C	496	39	PDHA2	3	3
DRD5	1816	broad.mit.edu	37	4	9783698	9783698	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9783698C>A	uc003gmb.3	+	c.45C>A	c.(43-45)TTC>TTA	p.F15L		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	15	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.428571	7.720618	7.75229	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9783698	9783698	4944	4	C	A	A	A	402	31	DRD5	1	1
SLCO6A1	133482	broad.mit.edu	37	5	101774323	101774323	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:101774323G>T	uc003knn.2	-	c.1274C>A	c.(1273-1275)GCA>GAA	p.A425E	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.A425E|SLCO6A1_uc003knq.2_Missense_Mutation_p.A363E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	425	Helical; Name=8; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|central_nervous_system(1)	4		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)										0.132075	11.386825	18.357484	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101774323	101774323	15229	5	G	T	T	T	598	46	SLCO6A1	2	2
PPIP5K2	23262	broad.mit.edu	37	5	102522093	102522093	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:102522093A>C	uc003kod.3	+	c.3242A>C	c.(3241-3243)TAT>TCT	p.Y1081S	PPIP5K2_uc011cva.1_Non-coding_Transcript|PPIP5K2_uc003koe.2_Missense_Mutation_p.Y1081S|PPIP5K2_uc003kof.2_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	1081					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)	1														0.116438	25.866899	47.055049	17	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102522093	102522093	12768	5	A	C	C	C	208	16	PPIP5K2	4	4
APC	324	broad.mit.edu	37	5	112174637	112174637	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112174637G>T	uc010jby.2	+	c.3346G>T	c.(3346-3348)GGT>TGT	p.G1116C	APC_uc011cvt.1_Missense_Mutation_p.G1098C|APC_uc003kpz.3_Missense_Mutation_p.G1116C|APC_uc003kpy.3_Missense_Mutation_p.G1116C|APC_uc010jbz.2_Missense_Mutation_p.G833C|APC_uc010jca.2_Missense_Mutation_p.G416C	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1116	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.048276	-19.573914	11.911157	7	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112174637	112174637	773	5	G	T	T	T	559	43	APC	2	2
APC	324	broad.mit.edu	37	5	112179485	112179485	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112179485G>T	uc010jby.2	+	c.8194G>T	c.(8194-8196)GAC>TAC	p.D2732Y	APC_uc011cvt.1_Missense_Mutation_p.D2714Y|APC_uc003kpz.3_Missense_Mutation_p.D2732Y|APC_uc003kpy.3_Missense_Mutation_p.D2732Y|APC_uc010jbz.2_Missense_Mutation_p.D2449Y|APC_uc010jca.2_Missense_Mutation_p.D2032Y	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2732	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.059701	-11.717309	15.469692	8	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112179485	112179485	773	5	G	T	T	T	585	45	APC	2	2
CTNND2	1501	broad.mit.edu	37	5	11346536	11346536	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11346536C>G	uc003jfa.1	-	c.1576G>C	c.(1576-1578)GAA>CAA	p.E526Q	CTNND2_uc010itt.2_Missense_Mutation_p.E435Q|CTNND2_uc011cmy.1_Missense_Mutation_p.E189Q|CTNND2_uc011cmz.1_Missense_Mutation_p.E93Q|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.E93Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	526					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.095541	16.804188	42.570964	15	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11346536	11346536	4179	5	C	G	G	G	377	29	CTNND2	3	3
SLC27A6	28965	broad.mit.edu	37	5	128365350	128365350	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:128365350G>T	uc003kuy.2	+	c.1633G>T	c.(1633-1635)GTT>TTT	p.V545F	SLC27A6_uc003kuz.2_Missense_Mutation_p.V545F	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	545					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)										0.086957	2.583096	22.428029	10	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128365350	128365350	15027	5	G	T	T	T	468	36	SLC27A6	2	2
RAD50	10111	broad.mit.edu	37	5	131939049	131939049	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:131939049G>C	uc003kxi.2	+	c.2265G>C	c.(2263-2265)CAG>CAC	p.Q755H	RAD50_uc003kxh.2_Missense_Mutation_p.Q616H	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	755					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)							407				0.083333	4.922155	28.214555	11	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131939049	131939049	13444	5	G	C	C	C	425	33	RAD50	3	3
PPP2CA	5515	broad.mit.edu	37	5	133536187	133536187	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:133536187C>A	uc003kze.2	-	c.577G>T	c.(577-579)GGT>TGT	p.G193C		NM_002715	NP_002706	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha	193					ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole	metal ion binding|phosphoprotein phosphatase activity			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)					266				0.054945	-9.981045	8.986594	5	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133536187	133536187	12816	5	C	A	A	A	286	22	PPP2CA	2	2
TGFBI	7045	broad.mit.edu	37	5	135391445	135391445	+	Missense_Mutation	SNP	G	T	T	rs114295767	by1000genomes	TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135391445G>T	uc003lbf.3	+	c.1487G>T	c.(1486-1488)CGG>CTG	p.R496L	TGFBI_uc003lbg.3_Missense_Mutation_p.R229L|TGFBI_uc003lbh.3_Missense_Mutation_p.R322L|TGFBI_uc011cyb.1_Missense_Mutation_p.R322L|TGFBI_uc010jed.2_Missense_Mutation_p.R229L	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	496	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.096774	1.820454	6.856133	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135391445	135391445	16348	5	G	T	T	T	507	39	TGFBI	1	1
DNAH5	1767	broad.mit.edu	37	5	13776554	13776554	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13776554C>G	uc003jfd.2	-	c.9367G>C	c.(9367-9369)GTT>CTT	p.V3123L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3123	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.05277	-60.665103	99.412288	40	718	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13776554	13776554	4787	5	C	G	G	G	260	20	DNAH5	3	3
TMCO6	55374	broad.mit.edu	37	5	140023223	140023223	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140023223G>C	uc003lgm.2	+	c.899G>C	c.(898-900)GGG>GCG	p.G300A	TMCO6_uc003lgl.2_Missense_Mutation_p.G294A|TMCO6_uc010jft.2_Missense_Mutation_p.G54A|TMCO6_uc003lgn.2_Missense_Mutation_p.G185A|TMCO6_uc003lgo.2_Missense_Mutation_p.G54A	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	294					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.058824	-32.787755	33.060548	19	304	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140023223	140023223	16530	5	G	C	C	C	559	43	TMCO6	3	3
PCDHB11	56125	broad.mit.edu	37	5	140581362	140581362	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140581362C>A	uc003liy.2	+	c.2015C>A	c.(2014-2016)CCG>CAG	p.P672Q	PCDHB11_uc011daj.1_Missense_Mutation_p.P307Q	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	672	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.115385	6.913901	14.489229	6	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140581362	140581362	11956	5	C	A	A	A	299	23	PCDHB11	1	1
PCDHB14	56122	broad.mit.edu	37	5	140605286	140605286	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140605286G>T	uc003ljb.2	+	c.2209G>T	c.(2209-2211)GTG>TTG	p.V737L	PCDHB14_uc011dal.1_Missense_Mutation_p.V584L	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	737	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			Ovarian(141;50 1831 27899 33809 37648)								0.086538	-0.016414	18.081417	9	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140605286	140605286	11959	5	G	T	T	T	572	44	PCDHB14	2	2
PCDHGA1	56114	broad.mit.edu	37	5	140712241	140712241	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140712241G>T	uc003lji.1	+	c.1990G>T	c.(1990-1992)GTG>TTG	p.V664L	PCDHGA1_uc011dan.1_Missense_Mutation_p.V664L	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	664	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.195122	12.365721	15.940858	8	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140712241	140712241	11970	5	G	T	T	T	520	40	PCDHGA1	1	1
POU4F3	5459	broad.mit.edu	37	5	145719677	145719677	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145719677C>T	uc003loa.2	+	c.687C>T	c.(685-687)TGC>TGT	p.C229C		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	229	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.116667	17.984943	43.988924	21	159	KEEP	---	---	---	---	capture		Silent	SNP	145719677	145719677	12710	5	C	T	T	T	324	25	POU4F3	2	2
GPR151	134391	broad.mit.edu	37	5	145895451	145895451	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145895451G>T	uc003lod.1	-	c.226C>A	c.(226-228)CTG>ATG	p.L76M		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	76	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			Pancreas(78;420 1386 18535 37114 49710)								0.126984	9.986271	18.513041	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145895451	145895451	6932	5	G	T	T	T	451	35	GPR151	2	2
GRPEL2	134266	broad.mit.edu	37	5	148730755	148730755	+	Silent	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148730755A>T	uc003lqj.2	+	c.588A>T	c.(586-588)GCA>GCT	p.A196A	GRPEL2_uc011dca.1_3'UTR	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial precursor	196					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.106145	14.654112	42.381619	19	160	KEEP	---	---	---	---	capture		Silent	SNP	148730755	148730755	7086	5	A	T	T	T	93	8	GRPEL2	3	3
GABRB2	2561	broad.mit.edu	37	5	160886748	160886748	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160886748G>T	uc003lys.1	-	c.340C>A	c.(340-342)CAG>AAG	p.Q114K	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.Q114K|GABRB2_uc003lyt.1_Missense_Mutation_p.Q114K|GABRB2_uc010jiu.1_Missense_Mutation_p.Q51K|GABRB2_uc011dei.1_Missense_Mutation_p.Q114K	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	114	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.168317	26.180844	36.761933	17	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160886748	160886748	6418	5	G	T	T	T	611	47	GABRB2	2	2
GABRA6	2559	broad.mit.edu	37	5	161128507	161128507	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161128507C>A	uc003lyu.2	+	c.1090C>A	c.(1090-1092)CCT>ACT	p.P364T	GABRA6_uc003lyv.2_Missense_Mutation_p.P135T	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	364	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|large_intestine(1)|central_nervous_system(1)	9	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						TCGA Ovarian(5;0.080)			0.076923	-8.700321	58.019127	28	336	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161128507	161128507	6416	5	C	A	A	A	390	30	GABRA6	2	2
NSD1	64324	broad.mit.edu	37	5	176721339	176721339	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176721339G>A	uc003mfr.3	+	c.6970G>A	c.(6970-6972)GGA>AGA	p.G2324R	NSD1_uc003mft.3_Missense_Mutation_p.G2055R|NSD1_uc011dfx.1_Missense_Mutation_p.G1972R	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2324	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)						492				0.193548	27.864048	33.297763	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176721339	176721339	11074	5	G	A	A	A	455	35	NSD1	2	2
PRDM9	56979	broad.mit.edu	37	5	23527714	23527714	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23527714G>T	uc003jgo.2	+	c.2517G>T	c.(2515-2517)CGG>CGT	p.R839R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	839	C2H2-type 13.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.163987	79.634857	113.057932	51	260	KEEP	---	---	---	---	capture		Silent	SNP	23527714	23527714	12906	5	G	T	T	T	548	43	PRDM9	2	2
CDH6	1004	broad.mit.edu	37	5	31317544	31317544	+	Silent	SNP	T	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31317544T>C	uc003jhe.1	+	c.1575T>C	c.(1573-1575)TTT>TTC	p.F525F	CDH6_uc003jhd.1_Silent_p.F525F	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	525	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|large_intestine(1)	5														0.03663	-40.578004	22.957282	10	263	KEEP	---	---	---	---	capture		Silent	SNP	31317544	31317544	3243	5	T	C	C	C	829	64	CDH6	4	4
MTMR12	54545	broad.mit.edu	37	5	32239198	32239198	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32239198C>A	uc003jhq.2	-	c.1253G>T	c.(1252-1254)GGT>GTT	p.G418V	MTMR12_uc010iuk.2_Missense_Mutation_p.G418V|MTMR12_uc010iul.2_Missense_Mutation_p.G418V	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	418	Myotubularin phosphatase.					cytoplasm	phosphatase activity			ovary(1)	1														0.17	25.20969	35.765999	17	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32239198	32239198	10334	5	C	A	A	A	234	18	MTMR12	2	2
NIPBL	25836	broad.mit.edu	37	5	37006594	37006594	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37006594G>A	uc003jkl.3	+	c.3991G>A	c.(3991-3993)GAT>AAT	p.D1331N	NIPBL_uc003jkk.3_Missense_Mutation_p.D1331N	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1331					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of gene-specific transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)							934				0.177215	27.09954	34.855712	14	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37006594	37006594	10829	5	G	A	A	A	533	41	NIPBL	2	2
C5orf42	65250	broad.mit.edu	37	5	37183732	37183732	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37183732C>G	uc011cpa.1	-	c.4551G>C	c.(4549-4551)CAG>CAC	p.Q1517H	C5orf42_uc011coy.1_Missense_Mutation_p.Q18H|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.Q592H|C5orf42_uc011cpb.1_Missense_Mutation_p.Q398H	NM_023073	NP_075561	B7ZLV7	B7ZLV7_HUMAN	hypothetical protein LOC65250	430										ovary(4)|breast(2)	6	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)											0.153846	10.701164	15.219777	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37183732	37183732	2399	5	C	G	G	G	415	32	C5orf42	3	3
C5orf42	65250	broad.mit.edu	37	5	37198949	37198949	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37198949A>T	uc011cpa.1	-	c.3527T>A	c.(3526-3528)CTT>CAT	p.L1176H	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.L251H|C5orf42_uc011cpb.1_Missense_Mutation_p.L57H	NM_023073	NP_075561	B7ZLV7	B7ZLV7_HUMAN	hypothetical protein LOC65250	89										ovary(4)|breast(2)	6	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)											0.12963	9.785809	16.997631	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37198949	37198949	2399	5	A	T	T	T	39	3	C5orf42	3	3
HMGCS1	3157	broad.mit.edu	37	5	43293064	43293064	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43293064C>G	uc003jnr.3	-	c.1195G>C	c.(1195-1197)GAT>CAT	p.D399H	HMGCS1_uc003jnp.3_Missense_Mutation_p.D80H|HMGCS1_uc003jnq.3_Missense_Mutation_p.D399H	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	399					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0														0.075	-0.70915	6.709859	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43293064	43293064	7523	5	C	G	G	G	377	29	HMGCS1	3	3
GZMA	3001	broad.mit.edu	37	5	54403954	54403954	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54403954T>A	uc003jpm.2	+	c.359T>A	c.(358-360)CTG>CAG	p.L120Q		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	120	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)	3		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)												0.071429	-2.885175	10.377054	5	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54403954	54403954	7195	5	T	A	A	A	715	55	GZMA	3	3
HTR1A	3350	broad.mit.edu	37	5	63256369	63256369	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:63256369G>A	uc011cqt.1	-	c.1178C>T	c.(1177-1179)TCT>TTT	p.S393F		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	393	Helical; Name=7; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)									0.041335	-87.793245	54.511162	26	603	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63256369	63256369	7736	5	G	A	A	A	429	33	HTR1A	2	2
TMEM171	134285	broad.mit.edu	37	5	72419374	72419374	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:72419374G>T	uc003kcm.2	+	c.174G>T	c.(172-174)GTG>GTT	p.V58V	TMEM171_uc003kcn.3_Silent_p.V58V	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	58	Helical; (Potential).					integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		NSCLC(112;638 2280 27369 30736)								0.134615	8.794235	15.523729	7	45	KEEP	---	---	---	---	capture		Silent	SNP	72419374	72419374	16622	5	G	T	T	T	587	46	TMEM171	2	2
SV2C	22987	broad.mit.edu	37	5	75427582	75427582	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75427582G>C	uc003kei.1	+	c.7G>C	c.(7-9)GAC>CAC	p.D3H		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	3	Interaction with SYT1 (By similarity).|Cytoplasmic (Potential).				neurotransmitter transport|transmembrane transport	cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)										0.115646	23.051882	44.491024	17	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75427582	75427582	15939	5	G	C	C	C	429	33	SV2C	3	3
ADCY2	108	broad.mit.edu	37	5	7820767	7820767	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7820767A>G	uc003jdz.1	+	c.3088A>G	c.(3088-3090)AGG>GGG	p.R1030G	ADCY2_uc011cmo.1_Missense_Mutation_p.R850G|ADCY2_uc010itm.1_Missense_Mutation_p.R226G	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	1030	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.107527	14.387953	28.58877	10	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7820767	7820767	295	5	A	G	G	G	192	15	ADCY2	4	4
BHMT	635	broad.mit.edu	37	5	78421881	78421881	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78421881T>A	uc003kfu.3	+	c.638T>A	c.(637-639)ATT>AAT	p.I213N	BHMT_uc011cti.1_Missense_Mutation_p.I60N	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	213	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)									0.133333	12.562345	20.388071	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78421881	78421881	1450	5	T	A	A	A	676	52	BHMT	3	3
CMYA5	202333	broad.mit.edu	37	5	79026737	79026737	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79026737C>G	uc003kgc.2	+	c.2149C>G	c.(2149-2151)CGT>GGT	p.R717G		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	717						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)										0.09596	6.550498	38.923352	19	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79026737	79026737	3728	5	C	G	G	G	299	23	CMYA5	3	3
EDIL3	10085	broad.mit.edu	37	5	83239258	83239258	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:83239258C>A	uc003kio.1	-	c.1423G>T	c.(1423-1425)GGC>TGC	p.G475C	EDIL3_uc003kip.1_Missense_Mutation_p.G465C	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	475	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)										0.047619	-20.521979	15.873725	8	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83239258	83239258	5102	5	C	A	A	A	286	22	EDIL3	2	2
NR2F1	7025	broad.mit.edu	37	5	92923849	92923849	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:92923849C>A	uc003kkj.2	+	c.690C>A	c.(688-690)GCC>GCA	p.A230A		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	230					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)						48				0.136364	9.041069	14.657664	6	38	KEEP	---	---	---	---	capture		Silent	SNP	92923849	92923849	11032	5	C	A	A	A	288	23	NR2F1	1	1
PRDM1	639	broad.mit.edu	37	6	106554849	106554849	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:106554849G>A	uc003prd.2	+	c.1966G>A	c.(1966-1968)GAG>AAG	p.E656K	PRDM1_uc003pre.2_Missense_Mutation_p.E522K	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	656					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)										0.055118	-12.550692	13.907432	7	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106554849	106554849	12892	6	G	A	A	A	429	33	PRDM1	2	2
NR2E1	7101	broad.mit.edu	37	6	108501529	108501529	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:108501529G>A	uc003psg.2	+	c.645G>A	c.(643-645)CTG>CTA	p.L215L		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	215	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)	1		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)										0.09322	3.230435	22.877132	11	107	KEEP	---	---	---	---	capture		Silent	SNP	108501529	108501529	11030	6	G	A	A	A	574	45	NR2E1	2	2
NR2E1	7101	broad.mit.edu	37	6	108501542	108501542	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:108501542G>A	uc003psg.2	+	c.658G>A	c.(658-660)GAT>AAT	p.D220N		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	220	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)	1		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)										0.081481	3.412232	27.497338	11	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108501542	108501542	11030	6	G	A	A	A	429	33	NR2E1	2	2
DSE	29940	broad.mit.edu	37	6	116757364	116757364	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116757364G>C	uc011ebg.1	+	c.1790G>C	c.(1789-1791)AGT>ACT	p.S597T	DSE_uc003pws.2_Missense_Mutation_p.S578T|DSE_uc003pwt.2_Missense_Mutation_p.S578T|DSE_uc003pwu.2_Missense_Mutation_p.S245T	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	578					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)										0.111111	6.508715	14.589349	6	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116757364	116757364	4958	6	G	C	C	C	468	36	DSE	3	3
VNN1	8876	broad.mit.edu	37	6	133032957	133032957	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:133032957G>A	uc003qdo.2	-	c.232C>T	c.(232-234)CCA>TCA	p.P78S		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)										0.138158	32.089241	51.320569	21	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133032957	133032957	17749	6	G	A	A	A	533	41	VNN1	2	2
SYNE1	23345	broad.mit.edu	37	6	152552538	152552538	+	Silent	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152552538T>A	uc010kiw.2	-	c.21027A>T	c.(21025-21027)CTA>CTT	p.L7009L	SYNE1_uc010kiv.2_Silent_p.L1533L|SYNE1_uc003qos.3_Silent_p.L1533L|SYNE1_uc003qot.3_Silent_p.L6938L|SYNE1_uc003qou.3_Silent_p.L7009L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7009	HAT 9.|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)										0.119792	26.90976	54.138249	23	169	KEEP	---	---	---	---	capture		Silent	SNP	152552538	152552538	15966	6	T	A	A	A	678	53	SYNE1	3	3
MAP3K4	4216	broad.mit.edu	37	6	161470037	161470037	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161470037G>A	uc003qtn.2	+	c.733G>A	c.(733-735)GAG>AAG	p.E245K	MAP3K4_uc010kkc.1_Missense_Mutation_p.E245K|MAP3K4_uc003qto.2_Missense_Mutation_p.E245K|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	245					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			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				0.126582	12.991537	23.743867	10	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161470037	161470037	9635	6	G	A	A	A	533	41	MAP3K4	2	2
HIST1H2BB	3018	broad.mit.edu	37	6	26043589	26043589	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26043589C>T	uc003nfu.2	-	c.297G>A	c.(295-297)GTG>GTA	p.V99V	HIST1H3C_uc003nfv.2_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	99					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.122449	5.610537	12.371431	6	43	KEEP	---	---	---	---	capture		Silent	SNP	26043589	26043589	7426	6	C	T	T	T	314	25	HIST1H2BB	2	2
OR2B6	26212	broad.mit.edu	37	6	27925169	27925169	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27925169C>A	uc011dkx.1	+	c.151C>A	c.(151-153)CTG>ATG	p.L51M		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.052117	-32.766833	32.363713	16	291	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27925169	27925169	11397	6	C	A	A	A	311	24	OR2B6	2	2
ZNF165	7718	broad.mit.edu	37	6	28056965	28056965	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28056965G>A	uc003nkg.2	+	c.1175G>A	c.(1174-1176)CGA>CAA	p.R392Q	ZNF165_uc003nkh.2_Missense_Mutation_p.R392Q|ZNF165_uc003nki.3_Missense_Mutation_p.R392Q|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	392	C2H2-type 3.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.195402	72.651535	87.703449	34	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28056965	28056965	18331	6	G	A	A	A	481	37	ZNF165	1	1
GPX6	257202	broad.mit.edu	37	6	28472273	28472273	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28472273G>T	uc011dlj.1	-	c.462C>A	c.(460-462)AAC>AAA	p.N154K	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	154					oxidation-reduction process|response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)	4					Glutathione(DB00143)									0.236111	47.137713	51.721563	17	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28472273	28472273	7020	6	G	T	T	T	464	36	GPX6	2	2
OR2J2	26707	broad.mit.edu	37	6	29141926	29141926	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29141926C>T	uc011dlm.1	+	c.514C>T	c.(514-516)CAT>TAT	p.H172Y		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.224919	300.060024	343.067955	139	479	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29141926	29141926	11409	6	C	T	T	T	221	17	OR2J2	2	2
ABCF1	23	broad.mit.edu	37	6	30545196	30545196	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30545196G>A	uc003nql.2	+	c.84G>A	c.(82-84)GTG>GTA	p.V28V	ABCF1_uc003nqk.2_Silent_p.V28V|ABCF1_uc003nqm.2_Silent_p.V28V|ABCF1_uc010jsb.2_Silent_p.V28V	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	28					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2														0.1	3.442981	16.232016	8	72	KEEP	---	---	---	---	capture		Silent	SNP	30545196	30545196	66	6	G	A	A	A	574	45	ABCF1	2	2
ATF6B	1388	broad.mit.edu	37	6	32089085	32089085	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32089085G>T	uc003nzn.2	-	c.519C>A	c.(517-519)TCC>TCA	p.S173S	ATF6B_uc003nzo.2_Silent_p.S170S|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.1_Silent_p.S107S|ATF6B_uc011dph.1_Silent_p.S173S	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	173	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.247788	72.150602	78.687246	28	85	KEEP	---	---	---	---	capture		Silent	SNP	32089085	32089085	1104	6	G	T	T	T	496	39	ATF6B	1	1
PBX2	5089	broad.mit.edu	37	6	32155858	32155858	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32155858C>T	uc003oav.1	-	c.619G>A	c.(619-621)GAG>AAG	p.E207K	PBX2_uc003oaw.2_Missense_Mutation_p.E207K	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	207							transcription factor binding|transcription regulator activity			ovary(1)	1														0.307692	11.698499	12.125193	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32155858	32155858	11913	6	C	T	T	T	416	32	PBX2	2	2
TAPBP	6892	broad.mit.edu	37	6	33272846	33272846	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33272846G>C	uc003odz.2	-	c.788C>G	c.(787-789)CCC>CGC	p.P263R	TAPBP_uc003odx.1_Missense_Mutation_p.P263R|TAPBP_uc010jus.1_Missense_Mutation_p.P281R|TAPBP_uc003ody.2_Missense_Mutation_p.P263R|TAPBP_uc010jut.1_Missense_Mutation_p.P176R|TAPBP_uc011drc.1_Missense_Mutation_p.P263R	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	263	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1														0.04186	-33.293503	15.195709	9	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33272846	33272846	16073	6	G	C	C	C	559	43	TAPBP	3	3
C6orf222	389384	broad.mit.edu	37	6	36297905	36297905	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36297905G>A	uc003oly.2	-	c.563C>T	c.(562-564)GCT>GTT	p.A188V		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	188										ovary(1)|breast(1)	2														0.058065	-14.706244	17.00251	9	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36297905	36297905	2461	6	G	A	A	A	442	34	C6orf222	2	2
FAM50B	26240	broad.mit.edu	37	6	3850660	3850660	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:3850660G>T	uc003mvu.2	+	c.615G>T	c.(613-615)AAG>AAT	p.K205N		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	205						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)												0.16	14.263461	19.776447	8	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3850660	3850660	5800	6	G	T	T	T	451	35	FAM50B	2	2
DNAH8	1769	broad.mit.edu	37	6	38854616	38854616	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38854616G>T	uc003ooe.1	+	c.7658G>T	c.(7657-7659)AGC>ATC	p.S2553I		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	2553	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.106838	17.690159	53.615835	25	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38854616	38854616	4790	6	G	T	T	T	442	34	DNAH8	2	2
TSPO2	222642	broad.mit.edu	37	6	41011851	41011851	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41011851C>A	uc003opj.2	+	c.488C>A	c.(487-489)CCT>CAT	p.P163H	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Silent_p.A125A|TSPO2_uc011dub.1_Missense_Mutation_p.P163H	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN	benzodiazapine receptor (peripheral)-like 1	163					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity				0														0.134146	15.765081	26.416243	11	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41011851	41011851	17207	6	C	A	A	A	312	24	TSPO2	2	2
UBR2	23304	broad.mit.edu	37	6	42633948	42633948	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42633948G>T	uc011dur.1	+	c.3846G>T	c.(3844-3846)CAG>CAT	p.Q1282H	UBR2_uc011dus.1_Missense_Mutation_p.Q927H|UBR2_uc003osh.2_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1282						nucleus|plasma membrane	zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)											0.101322	16.637894	52.477336	23	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42633948	42633948	17460	6	G	T	T	T	438	34	UBR2	2	2
TTBK1	84630	broad.mit.edu	37	6	43251485	43251485	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43251485C>A	uc003ouq.1	+	c.3007C>A	c.(3007-3009)CGG>AGG	p.R1003R		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1003					protein phosphorylation	cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)							85				0.164835	25.99485	35.600693	15	76	KEEP	---	---	---	---	capture		Silent	SNP	43251485	43251485	17230	6	C	A	A	A	295	23	TTBK1	1	1
CAPN11	11131	broad.mit.edu	37	6	44148513	44148513	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44148513A>G	uc003owt.1	+	c.1775A>G	c.(1774-1776)CAG>CGG	p.Q592R	CAPN11_uc011dvn.1_Missense_Mutation_p.Q246R	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	592	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)											0.114286	9.4529	19.717309	8	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44148513	44148513	2741	6	A	G	G	G	91	7	CAPN11	4	4
PAQR8	85315	broad.mit.edu	37	6	52268418	52268418	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52268418C>T	uc003pao.3	+	c.407C>T	c.(406-408)TCA>TTA	p.S136L		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	136	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)													0.133065	44.29351	76.723191	33	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52268418	52268418	11858	6	C	T	T	T	377	29	PAQR8	2	2
GSTA2	2939	broad.mit.edu	37	6	52617777	52617777	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52617777C>T	uc003pay.2	-	c.289G>A	c.(289-291)GAA>AAA	p.E97K		NM_000846	NP_000837	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	97	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)									0.134021	103.449243	166.464087	65	420	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52617777	52617777	7111	6	C	T	T	T	416	32	GSTA2	2	2
COL19A1	1310	broad.mit.edu	37	6	70639393	70639393	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70639393A>T	uc003pfc.1	+	c.467A>T	c.(466-468)TAC>TTC	p.Y156F	COL19A1_uc010kam.1_Missense_Mutation_p.Y52F	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	156	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.109848	28.770261	68.470829	29	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70639393	70639393	3814	6	A	T	T	T	182	14	COL19A1	3	3
EPHA7	2045	broad.mit.edu	37	6	94068117	94068117	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:94068117C>A	uc003poe.2	-	c.845G>T	c.(844-846)GGG>GTG	p.G282V	EPHA7_uc003pof.2_Missense_Mutation_p.G282V|EPHA7_uc011eac.1_Missense_Mutation_p.G282V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	282	Extracellular (Potential).|Cys-rich.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(7)|lung(6)|central_nervous_system(3)|large_intestine(2)|skin(2)|pancreas(1)	21		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)						635				0.132075	6.78788	13.765882	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94068117	94068117	5365	6	C	A	A	A	286	22	EPHA7	2	2
ZCWPW1	55063	broad.mit.edu	37	7	100006280	100006280	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100006280C>T	uc003uut.2	-	c.871G>A	c.(871-873)GTG>ATG	p.V291M	ZCWPW1_uc011kjq.1_Missense_Mutation_p.V171M|ZCWPW1_uc003uur.2_Missense_Mutation_p.V171M|ZCWPW1_uc003uus.2_Missense_Mutation_p.V171M|ZCWPW1_uc011kjr.1_Missense_Mutation_p.V291M|ZCWPW1_uc003uuu.1_Missense_Mutation_p.V292M|ZCWPW1_uc011kjs.1_Missense_Mutation_p.V171M|ZCWPW1_uc011kjp.1_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	291	CW-type.						zinc ion binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.2	44.051575	54.228914	24	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100006280	100006280	18185	7	C	T	T	T	221	17	ZCWPW1	2	2
MYL10	93408	broad.mit.edu	37	7	101259549	101259549	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:101259549C>A	uc003uyr.2	-	c.484G>T	c.(484-486)GCC>TCC	p.A162S		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	162	EF-hand 2.					mitochondrion	calcium ion binding			ovary(1)|breast(1)	2						Esophageal Squamous(24;575 709 17516 40384 51639)								0.192308	8.551476	10.864919	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101259549	101259549	10439	7	C	A	A	A	351	27	MYL10	1	1
ST7	7982	broad.mit.edu	37	7	116759737	116759737	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:116759737T>G	uc003vin.2	+	c.357T>G	c.(355-357)AGT>AGG	p.S119R	ST7_uc011knl.1_Missense_Mutation_p.S119R|ST7_uc003vio.2_Missense_Mutation_p.S119R|ST7_uc003viq.2_Missense_Mutation_p.S73R|ST7_uc011knm.1_Missense_Mutation_p.S76R|ST7_uc003vir.2_Missense_Mutation_p.S67R|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.S67R|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	119						integral to membrane	binding			central_nervous_system(1)	1	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)										0.104651	23.2423	49.961934	18	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116759737	116759737	15747	7	T	G	G	G	738	57	ST7	4	4
ST7	7982	broad.mit.edu	37	7	116759740	116759740	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:116759740C>G	uc003vin.2	+	c.360C>G	c.(358-360)AAC>AAG	p.N120K	ST7_uc011knl.1_Missense_Mutation_p.N120K|ST7_uc003vio.2_Missense_Mutation_p.N120K|ST7_uc003viq.2_Missense_Mutation_p.N74K|ST7_uc011knm.1_Missense_Mutation_p.N77K|ST7_uc003vir.2_Missense_Mutation_p.N68K|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.N68K|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	120						integral to membrane	binding			central_nervous_system(1)	1	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)										0.104651	22.255579	48.961342	18	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116759740	116759740	15747	7	C	G	G	G	246	19	ST7	3	3
PTPRZ1	5803	broad.mit.edu	37	7	121652008	121652008	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121652008C>A	uc003vjy.2	+	c.2908C>A	c.(2908-2910)CCA>ACA	p.P970T	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	970	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.164894	62.327628	82.350066	31	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121652008	121652008	13272	7	C	A	A	A	234	18	PTPRZ1	2	2
CADPS2	93664	broad.mit.edu	37	7	122303495	122303495	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122303495C>G	uc010lkp.2	-	c.582G>C	c.(580-582)TTG>TTC	p.L194F	CADPS2_uc010lkq.2_Missense_Mutation_p.L194F	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	194					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.043668	-27.856961	23.233942	10	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122303495	122303495	2687	7	C	G	G	G	376	29	CADPS2	3	3
SLC13A1	6561	broad.mit.edu	37	7	122768942	122768942	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122768942G>T	uc003vkm.2	-	c.1090C>A	c.(1090-1092)CGA>AGA	p.R364R	SLC13A1_uc010lks.2_Silent_p.R240R	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	364	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)									0.2	74.519515	87.907254	32	128	KEEP	---	---	---	---	capture		Silent	SNP	122768942	122768942	14886	7	G	T	T	T	480	37	SLC13A1	1	1
GRM8	2918	broad.mit.edu	37	7	126173734	126173734	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126173734C>G	uc003vlr.2	-	c.1702G>C	c.(1702-1704)GGC>CGC	p.G568R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G568R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	568	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.206061	67.237158	80.481233	34	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126173734	126173734	7082	7	C	G	G	G	312	24	GRM8	3	3
TMEM209	84928	broad.mit.edu	37	7	129813780	129813780	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129813780C>T	uc003vpn.2	-	c.1345_splice	c.e12-1	p.I449_splice	TMEM209_uc010lmc.1_Splice_Site_SNP_p.I407_splice	NM_032842	NP_116231			transmembrane protein 209							integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)													0.056604	-17.787553	26.018127	12	200	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	129813780	129813780	16669	7	C	T	T	T	416	32	TMEM209	5	2
CPA1	1357	broad.mit.edu	37	7	130023290	130023290	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130023290G>T	uc003vpx.2	+	c.542G>T	c.(541-543)CGG>CTG	p.R181L	CPA1_uc011kpf.1_Missense_Mutation_p.R93L|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	181	Substrate binding.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.073171	-0.707437	6.972572	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130023290	130023290	3927	7	G	T	T	T	507	39	CPA1	1	1
PLXNA4	91584	broad.mit.edu	37	7	132174109	132174109	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:132174109T>A	uc003vra.3	-	c.1313A>T	c.(1312-1314)TAT>TTT	p.Y438F	PLXNA4_uc003vrc.2_Missense_Mutation_p.Y438F|PLXNA4_uc003vrb.2_Missense_Mutation_p.Y438F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	438	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.111111	9.257225	20.013837	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132174109	132174109	12548	7	T	A	A	A	637	49	PLXNA4	3	3
MGAM	8972	broad.mit.edu	37	7	141740554	141740554	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141740554C>A	uc003vwy.2	+	c.2406C>A	c.(2404-2406)GTC>GTA	p.V802V		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	802	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)									0.073171	-5.465828	10.12706	6	76	KEEP	---	---	---	---	capture		Silent	SNP	141740554	141740554	9931	7	C	A	A	A	392	31	MGAM	1	1
EPHB6	2051	broad.mit.edu	37	7	142562270	142562270	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142562270T>A	uc011kst.1	+	c.712T>A	c.(712-714)TCC>ACC	p.S238T	EPHB6_uc011ksu.1_Missense_Mutation_p.S238T|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_Intron|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	238	Extracellular (Potential).|Cys-rich.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.059829	-10.051773	13.646674	7	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142562270	142562270	5371	7	T	A	A	A	650	50	EPHB6	3	3
TRPV5	56302	broad.mit.edu	37	7	142627277	142627277	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142627277T>A	uc003wby.1	-	c.227_splice	c.e3-1	p.G76_splice	TRPV5_uc003wbz.2_Splice_Site_SNP_p.G76_splice	NM_019841	NP_062815			transient receptor potential cation channel,						protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.25	78.20102	84.809183	29	87	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	142627277	142627277	17150	7	T	A	A	A	715	55	TRPV5	5	3
FAM131B	9715	broad.mit.edu	37	7	143054475	143054475	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143054475C>T	uc010lpa.2	-	c.508G>A	c.(508-510)GCC>ACC	p.A170T	FAM131B_uc010loz.2_Missense_Mutation_p.A110T|FAM131B_uc003wct.2_Missense_Mutation_p.A142T|FAM131B_uc003wcu.3_Missense_Mutation_p.A142T	NM_001031690	NP_001026860	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform a	142											0	Melanoma(164;0.205)													0.071429	-2.580844	10.667976	5	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143054475	143054475	5637	7	C	T	T	T	338	26	FAM131B	2	2
CUL1	8454	broad.mit.edu	37	7	148484122	148484122	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148484122G>C	uc010lpg.2	+	c.1389G>C	c.(1387-1389)CAG>CAC	p.Q463H	CUL1_uc003wey.2_Missense_Mutation_p.Q463H|CUL1_uc003wez.2_Missense_Mutation_p.Q353H|CUL1_uc003wfa.2_Missense_Mutation_p.Q124H	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	463					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)											0.23622	88.491474	96.566354	30	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148484122	148484122	4214	7	G	C	C	C	425	33	CUL1	3	3
GIMAP8	155038	broad.mit.edu	37	7	150174822	150174822	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150174822C>T	uc003whj.2	+	c.1952C>T	c.(1951-1953)TCC>TTC	p.S651F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	651	Potential.					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)										0.185185	62.215633	82.389055	40	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150174822	150174822	6653	7	C	T	T	T	390	30	GIMAP8	2	2
GIMAP4	55303	broad.mit.edu	37	7	150270130	150270130	+	Silent	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150270130T>G	uc011kuv.1	+	c.1014T>G	c.(1012-1014)CGT>CGG	p.R338R	GIMAP4_uc011kuu.1_Silent_p.R185R|GIMAP4_uc003whl.2_Silent_p.R324R	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	324							GTP binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.198444	123.808444	145.670937	51	206	KEEP	---	---	---	---	capture		Silent	SNP	150270130	150270130	6649	7	T	G	G	G	743	58	GIMAP4	4	4
MLL3	58508	broad.mit.edu	37	7	151850040	151850040	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151850040C>G	uc003wla.2	-	c.12277_splice	c.e49-1	p.N4093_splice	MLL3_uc003wkz.2_Splice_Site_SNP_p.N3211_splice|MLL3_uc003wkx.2_Splice_Site_SNP_p.N251_splice|MLL3_uc003wky.2_Splice_Site_SNP_p.N1657_splice	NM_170606	NP_733751			myeloid/lymphoid or mixed-lineage leukemia 3						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.061224	-5.449843	24.093184	9	138	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	151850040	151850040	10012	7	C	G	G	G	416	32	MLL3	5	3
DPP6	1804	broad.mit.edu	37	7	154561257	154561257	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154561257C>A	uc003wlk.2	+	c.1014C>A	c.(1012-1014)ACC>ACA	p.T338T	DPP6_uc003wli.2_Silent_p.T274T|DPP6_uc003wlm.2_Silent_p.T276T|DPP6_uc011kvq.1_Silent_p.T231T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	338	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			NSCLC(125;1384 1783 2490 7422 34254)								0.176471	6.015714	7.691984	3	14	KEEP	---	---	---	---	capture		Silent	SNP	154561257	154561257	4914	7	C	A	A	A	288	23	DPP6	1	1
ABCB5	340273	broad.mit.edu	37	7	20767983	20767983	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20767983C>T	uc010kuh.2	+	c.2772C>T	c.(2770-2772)TTC>TTT	p.F924F	ABCB5_uc003suw.3_Silent_p.F479F|ABCB5_uc003sux.1_Silent_p.F102F	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	479	Helical; (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.045918	-27.434733	15.665525	9	187	KEEP	---	---	---	---	capture		Silent	SNP	20767983	20767983	45	7	C	T	T	T	376	29	ABCB5	2	2
DNAH11	8701	broad.mit.edu	37	7	21742342	21742342	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21742342G>T	uc003svc.2	+	c.6216G>T	c.(6214-6216)TGG>TGT	p.W2072C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2072	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.084337	-0.341992	14.225325	7	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21742342	21742342	4781	7	G	T	T	T	559	43	DNAH11	2	2
HOXA5	3202	broad.mit.edu	37	7	27182784	27182784	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27182784C>T	uc003syn.1	-	c.443G>A	c.(442-444)GGA>GAA	p.G148E		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	148					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0						Colon(119;75 2200 7557 42868)								0.070588	-5.595056	10.562105	6	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27182784	27182784	7587	7	C	T	T	T	390	30	HOXA5	2	2
GGCT	79017	broad.mit.edu	37	7	30538475	30538475	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30538475G>A	uc003tba.2	-	c.367C>T	c.(367-369)CGA>TGA	p.R123*	GGCT_uc003tbb.2_Intron|GGCT_uc003tbc.2_Non-coding_Transcript|GGCT_uc003taz.2_Nonsense_Mutation_p.R62*	NM_024051	NP_076956	O75223	GGCT_HUMAN	gamma-glutamyl cyclotransferase	123					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity				0														0.062241	-15.863095	32.290033	15	226	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30538475	30538475	6623	7	G	A	A	A	480	37	GGCT	5	1
BBS9	27241	broad.mit.edu	37	7	33313482	33313482	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:33313482C>A	uc003tdn.1	+	c.930C>A	c.(928-930)AAC>AAA	p.N310K	BBS9_uc003tdo.1_Missense_Mutation_p.N310K|BBS9_uc003tdp.1_Missense_Mutation_p.N310K|BBS9_uc003tdq.1_Missense_Mutation_p.N310K|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Missense_Mutation_p.N310K|BBS9_uc011kao.1_Missense_Mutation_p.N188K	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	310					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(11;0.0894)											0.085106	1.470086	17.846896	8	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33313482	33313482	1363	7	C	A	A	A	220	17	BBS9	2	2
TBX20	57057	broad.mit.edu	37	7	35280503	35280503	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:35280503G>T	uc011kas.1	-	c.801C>A	c.(799-801)TAC>TAA	p.Y267*		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	267	T-box.					nucleus	DNA binding			central_nervous_system(1)	1														0.107143	10.935624	28.073797	12	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35280503	35280503	16182	7	G	T	T	T	568	44	TBX20	5	2
TXNDC3	51314	broad.mit.edu	37	7	37907439	37907439	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:37907439G>C	uc003tfn.2	+	c.757G>C	c.(757-759)GAG>CAG	p.E253Q		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	253	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						Ovarian(108;903 1537 27096 29907 47400)								0.09375	9.503456	25.424988	9	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37907439	37907439	17354	7	G	C	C	C	585	45	TXNDC3	3	3
AMPH	273	broad.mit.edu	37	7	38457456	38457456	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:38457456G>C	uc003tgu.2	-	c.1367C>G	c.(1366-1368)ACT>AGT	p.T456S	AMPH_uc003tgv.2_Intron|AMPH_uc003tgt.2_Intron|AMPH_uc003tgw.1_Intron|AMPH_uc010kxl.1_Intron	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	456					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)	4														0.065217	-5.125785	21.960071	9	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38457456	38457456	591	7	G	C	C	C	468	36	AMPH	3	3
GLI3	2737	broad.mit.edu	37	7	42007333	42007333	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42007333T>A	uc011kbh.1	-	c.2292A>T	c.(2290-2292)CAA>CAT	p.Q764H	GLI3_uc011kbg.1_Missense_Mutation_p.Q705H	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	764					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8										806				0.085427	2.015	36.711487	17	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42007333	42007333	6707	7	T	A	A	A	725	56	GLI3	3	3
PKD1L1	168507	broad.mit.edu	37	7	47870944	47870944	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47870944C>T	uc003tny.1	-	c.6344G>A	c.(6343-6345)AGC>AAC	p.S2115N	C7orf69_uc003toa.1_Non-coding_Transcript	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2115	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.07	-3.654632	15.430974	7	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47870944	47870944	12388	7	C	T	T	T	364	28	PKD1L1	2	2
POM121L12	285877	broad.mit.edu	37	7	53104216	53104216	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53104216C>A	uc003tpz.2	+	c.852C>A	c.(850-852)GCC>GCA	p.A284A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	284											0														0.082353	-3.141967	11.966391	7	78	KEEP	---	---	---	---	capture		Silent	SNP	53104216	53104216	12669	7	C	A	A	A	275	22	POM121L12	2	2
MDH2	4191	broad.mit.edu	37	7	75684173	75684173	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:75684173G>T	uc003ueo.2	+	c.92G>T	c.(91-93)GGG>GTG	p.G31V	MDH2_uc003uep.2_Intron|MDH2_uc011kgh.1_Missense_Mutation_p.G31V	NM_005918	NP_005909	P40926	MDHM_HUMAN	mitochondrial malate dehydrogenase precursor	31	NAD.				gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)									0.178947	31.312043	40.457224	17	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75684173	75684173	9799	7	G	T	T	T	559	43	MDH2	2	2
FGL2	10875	broad.mit.edu	37	7	76826126	76826126	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:76826126A>T	uc003ugb.2	-	c.790T>A	c.(790-792)TTC>ATC	p.F264I	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	264	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(1)	1														0.196429	87.787766	107.019132	44	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76826126	76826126	6110	7	A	T	T	T	39	3	FGL2	3	3
MAGI2	9863	broad.mit.edu	37	7	77789536	77789536	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:77789536C>A	uc003ugx.2	-	c.2651G>T	c.(2650-2652)AGC>ATC	p.S884I	MAGI2_uc003ugy.2_Missense_Mutation_p.S870I|MAGI2_uc010ldx.1_Missense_Mutation_p.S477I	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	884						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)	5		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)												0.255319	28.703183	31.239581	12	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77789536	77789536	9574	7	C	A	A	A	364	28	MAGI2	2	2
SEMA3A	10371	broad.mit.edu	37	7	83606484	83606484	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83606484C>A	uc003uhz.2	-	c.1681G>T	c.(1681-1683)GGA>TGA	p.G561*		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	561					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.221622	101.372119	114.566848	41	144	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	83606484	83606484	14510	7	C	A	A	A	273	21	SEMA3A	5	2
ABCB4	5244	broad.mit.edu	37	7	87060734	87060734	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87060734G>T	uc003uiv.1	-	c.1879C>A	c.(1879-1881)CTT>ATT	p.L627I	ABCB4_uc003uiw.1_Missense_Mutation_p.L627I|ABCB4_uc003uix.1_Missense_Mutation_p.L627I	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	627	ABC transporter 1.|Cytoplasmic (By similarity).|Interaction with HAX1 (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.083916	1.880486	27.033531	12	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87060734	87060734	44	7	G	T	T	T	468	36	ABCB4	2	2
ABCB1	5243	broad.mit.edu	37	7	87133606	87133606	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87133606T>G	uc003uiz.1	-	c.3796A>C	c.(3796-3798)ATC>CTC	p.I1266L	ABCB1_uc011khc.1_Missense_Mutation_p.I1202L	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	1266	Cytoplasmic (Potential).|ABC transporter 2.					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)									0.060811	-7.205012	22.571897	9	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87133606	87133606	41	7	T	G	G	G	663	51	ABCB1	4	4
CYP51A1	1595	broad.mit.edu	37	7	91763538	91763538	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91763538G>A	uc003ulm.3	-	c.141C>T	c.(139-141)GTC>GTT	p.V47V	CYP51A1_uc011khn.1_Intron|CYP51A1_uc003uln.3_Intron	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	41	Helical; (Potential).				cholesterol biosynthetic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	GBM(70;1100 1190 11592 25836 51397)						OREG0018160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.088235	1.396979	7.226084	3	31	KEEP	---	---	---	---	capture		Silent	SNP	91763538	91763538	4360	7	G	A	A	A	418	33	CYP51A1	2	2
SAMD9	54809	broad.mit.edu	37	7	92731848	92731848	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92731848C>A	uc003umf.2	-	c.3563G>T	c.(3562-3564)CGG>CTG	p.R1188L	SAMD9_uc003umg.2_Missense_Mutation_p.R1188L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1188						cytoplasm				ovary(3)|breast(1)|central_nervous_system(1)	5	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)											0.186885	126.294181	154.307305	57	248	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92731848	92731848	14306	7	C	A	A	A	299	23	SAMD9	1	1
CALCR	799	broad.mit.edu	37	7	93091394	93091394	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:93091394A>T	uc003umv.1	-	c.604T>A	c.(604-606)TGG>AGG	p.W202R	CALCR_uc011kia.1_5'Flank|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc003umt.1_Intron|CALCR_uc003umu.1_Intron|CALCR_uc003umw.2_Intron	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	184	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(1)|pancreas(1)	5	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)									0.25	9.39246	10.301472	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93091394	93091394	2695	7	A	T	T	T	65	5	CALCR	3	3
RIMS2	9699	broad.mit.edu	37	8	104897965	104897965	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104897965G>T	uc003yls.2	+	c.472G>T	c.(472-474)GAT>TAT	p.D158Y	RIMS2_uc003ylp.2_Missense_Mutation_p.D380Y|RIMS2_uc003ylw.2_Missense_Mutation_p.D188Y|RIMS2_uc003ylq.2_Missense_Mutation_p.D188Y|RIMS2_uc003ylr.2_Missense_Mutation_p.D188Y	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	411					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)						p.D158Y(NCIH2110-Tumor)	728				0.146552	24.895256	38.833042	17	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104897965	104897965	13845	8	G	T	T	T	429	33	RIMS2	2	2
CSMD3	114788	broad.mit.edu	37	8	113599413	113599413	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113599413T>A	uc003ynu.2	-	c.3767A>T	c.(3766-3768)AAT>ATT	p.N1256I	CSMD3_uc003yns.2_Missense_Mutation_p.N528I|CSMD3_uc003ynt.2_Missense_Mutation_p.N1216I|CSMD3_uc011lhx.1_Missense_Mutation_p.N1152I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1256	Extracellular (Potential).|CUB 7.					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)			0.073892	-4.092576	33.734533	15	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113599413	113599413	4087	8	T	A	A	A	676	52	CSMD3	3	3
BLK	640	broad.mit.edu	37	8	11418838	11418838	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11418838C>A	uc003wty.2	+	c.1057C>A	c.(1057-1059)CGC>AGC	p.R353S	BLK_uc003wtz.2_Missense_Mutation_p.R282S|BLK_uc003wua.2_Missense_Mutation_p.R189S	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	353	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion|protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|ovary(1)	2			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)						676				0.416667	15.573033	15.645758	5	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11418838	11418838	1469	8	C	A	A	A	351	27	BLK	1	1
HAS2	3037	broad.mit.edu	37	8	122629425	122629425	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:122629425G>C	uc003yph.2	-	c.649C>G	c.(649-651)CTT>GTT	p.L217V		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	217	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity			ovary(5)	5	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)											0.159574	32.864126	43.239529	15	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122629425	122629425	7244	8	G	C	C	C	442	34	HAS2	3	3
ADCY8	114	broad.mit.edu	37	8	131812695	131812695	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131812695C>G	uc003ytd.3	-	c.3037G>C	c.(3037-3039)GAG>CAG	p.E1013Q	ADCY8_uc010mds.2_Missense_Mutation_p.E882Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1013	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.093284	77.808994	211.665198	75	729	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131812695	131812695	301	8	C	G	G	G	377	29	ADCY8	3	3
COL22A1	169044	broad.mit.edu	37	8	139737681	139737681	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139737681G>A	uc003yvd.2	-	c.2142C>T	c.(2140-2142)GGC>GGT	p.G714G	COL22A1_uc011ljo.1_Silent_p.G14G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	714	Collagen-like 5.|Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.195312	44.003478	55.10762	25	103	KEEP	---	---	---	---	capture		Silent	SNP	139737681	139737681	3819	8	G	A	A	A	535	42	COL22A1	2	2
PHYHIP	9796	broad.mit.edu	37	8	22084444	22084444	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22084444G>A	uc003xbk.3	-	c.260C>T	c.(259-261)GCC>GTC	p.A87V	PHYHIP_uc003xbj.3_Missense_Mutation_p.A87V	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	87	Fibronectin type-III.										0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)										0.166667	9.384564	14.443798	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22084444	22084444	12290	8	G	A	A	A	546	42	PHYHIP	2	2
CSMD1	64478	broad.mit.edu	37	8	3267071	3267071	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3267071C>A	uc011kwk.1	-	c.1621G>T	c.(1621-1623)GGC>TGC	p.G541C	CSMD1_uc011kwj.1_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	541	Extracellular (Potential).|Sushi 3.					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)										0.153846	9.626979	14.094094	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3267071	3267071	4085	8	C	A	A	A	286	22	CSMD1	2	2
C8orf41	80185	broad.mit.edu	37	8	33369530	33369530	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:33369530C>A	uc003xjl.3	-	c.602G>T	c.(601-603)GGG>GTG	p.G201V	C8orf41_uc003xjk.3_Missense_Mutation_p.G201V|C8orf41_uc010lvv.2_Missense_Mutation_p.G201V|C8orf41_uc003xjm.3_Missense_Mutation_p.G201V|C8orf41_uc003xjn.1_Missense_Mutation_p.G201V	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	201							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)										0.070707	-10.10691	27.472014	14	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33369530	33369530	2537	8	C	A	A	A	286	22	C8orf41	2	2
KCNU1	157855	broad.mit.edu	37	8	36768447	36768448	+	Splice_Site_DNP	DNP	GG	TT	TT			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36768447_36768448GG>TT	uc010lvw.2	+	c.2332_splice	c.e22-1	p.G778_splice	KCNU1_uc003xjw.2_Splice_Site_DNP	NM_001031836	NP_001027006			potassium channel, subfamily U, member 1							voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.110294	12.62344	33.065951	15	121	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	36768447	36768448	8398	8	GG	TT	TT	TT	455	35	KCNU1	5	2
PRKDC	5591	broad.mit.edu	37	8	48739408	48739408	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48739408C>A	uc003xqi.2	-	c.8592G>T	c.(8590-8592)CAG>CAT	p.Q2864H	PRKDC_uc003xqj.2_Missense_Mutation_p.Q2864H|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2864	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.3	8.221076	8.578464	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48739408	48739408	12964	8	C	A	A	A	363	28	PRKDC	2	2
SNTG1	54212	broad.mit.edu	37	8	51569535	51569535	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51569535A>T	uc010lxy.1	+	c.916A>T	c.(916-918)ACC>TCC	p.T306S	SNTG1_uc003xqs.1_Missense_Mutation_p.T306S|SNTG1_uc010lxz.1_Missense_Mutation_p.T306S|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	306	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)												0.127119	18.060855	34.05037	15	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51569535	51569535	15374	8	A	T	T	T	130	10	SNTG1	3	3
ZFHX4	79776	broad.mit.edu	37	8	77618301	77618301	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77618301G>T	uc003yav.2	+	c.1978G>T	c.(1978-1980)GAG>TAG	p.E660*	ZFHX4_uc003yat.1_Nonsense_Mutation_p.E660*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.E660*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.E660*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	660	C2H2-type 2.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.065421	-6.911777	14.024622	7	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77618301	77618301	18223	8	G	T	T	T	533	41	ZFHX4	5	2
STMN2	11075	broad.mit.edu	37	8	80567105	80567105	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:80567105G>T	uc003ybj.2	+	c.289_splice	c.e4-1	p.S97_splice	STMN2_uc010lzp.2_Splice_Site_SNP|STMN2_uc011lfn.1_Splice_Site_SNP_p.S97_splice	NM_007029	NP_008960			superiorcervical ganglia, neural specific 10						intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)											0.064935	-4.983063	10.155288	5	72	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	80567105	80567105	15829	8	G	T	T	T	468	36	STMN2	5	2
OR13C8	138802	broad.mit.edu	37	9	107331796	107331796	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107331796C>A	uc011lvo.1	+	c.348C>A	c.(346-348)GGC>GGA	p.G116G		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.182482	51.002095	63.967876	25	112	KEEP	---	---	---	---	capture		Silent	SNP	107331796	107331796	11344	9	C	A	A	A	314	25	OR13C8	2	2
TTC16	158248	broad.mit.edu	37	9	130482646	130482646	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130482646G>T	uc004brq.1	+	c.629G>T	c.(628-630)CGG>CTG	p.R210L	PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.R197L|TTC16_uc004brr.1_Missense_Mutation_p.R155L|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	210							binding				0														0.25	10.893711	11.801694	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130482646	130482646	17237	9	G	T	T	T	507	39	TTC16	1	1
RGP1	9827	broad.mit.edu	37	9	35750242	35750242	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35750242A>T	uc011lpe.1	+	c.239A>T	c.(238-240)GAG>GTG	p.E80V	GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpf.1_Missense_Mutation_p.E40V	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	40										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)											0.092593	0.733177	9.758032	5	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35750242	35750242	13757	9	A	T	T	T	143	11	RGP1	3	3
EXOSC3	51010	broad.mit.edu	37	9	37780832	37780832	+	Silent	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37780832G>C	uc004aal.2	-	c.672C>G	c.(670-672)CTC>CTG	p.L224L	EXOSC3_uc010mly.1_Silent_p.L224L|EXOSC3_uc004aam.2_3'UTR	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN	exosome component 3 isoform 1	224					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)	2				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)										0.079365	2.624889	14.002178	5	58	KEEP	---	---	---	---	capture		Silent	SNP	37780832	37780832	5509	9	G	C	C	C	418	33	EXOSC3	3	3
GLDC	2731	broad.mit.edu	37	9	6553455	6553455	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6553455C>A	uc003zkc.2	-	c.2370G>T	c.(2368-2370)CGG>CGT	p.R790R		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	790					glycine catabolic process|oxidation-reduction process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.484076	214.886527	214.921036	76	81	KEEP	---	---	---	---	capture		Silent	SNP	6553455	6553455	6701	9	C	A	A	A	379	30	GLDC	2	2
FLJ46321	389763	broad.mit.edu	37	9	84607525	84607525	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84607525C>A	uc004amn.2	+	c.2140C>A	c.(2140-2142)CGT>AGT	p.R714S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	714						integral to membrane					0														0.126316	19.443838	32.379975	12	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84607525	84607525	6174	9	C	A	A	A	247	19	FLJ46321	1	1
PTPDC1	138639	broad.mit.edu	37	9	96827072	96827072	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:96827072G>A	uc004auf.1	+	c.51G>A	c.(49-51)GTG>GTA	p.V17V	PTPDC1_uc004aug.1_Silent_p.V17V	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	17							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1														0.100592	8.18731	35.087585	17	152	KEEP	---	---	---	---	capture		Silent	SNP	96827072	96827072	13228	9	G	A	A	A	574	45	PTPDC1	2	2
PTPDC1	138639	broad.mit.edu	37	9	96827099	96827099	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:96827099G>A	uc004auf.1	+	c.78G>A	c.(76-78)ATG>ATA	p.M26I	PTPDC1_uc004aug.1_Missense_Mutation_p.M26I	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	26							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1														0.104167	9.810103	32.274455	15	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96827099	96827099	13228	9	G	A	A	A	585	45	PTPDC1	2	2
HNRNPH2	3188	broad.mit.edu	37	X	100667151	100667151	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100667151G>T	uc004ehm.2	+	c.175G>T	c.(175-177)GTT>TTT	p.V59F	HNRNPH2_uc004ehn.2_Missense_Mutation_p.V59F	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	59	RRM 1.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0														0.033175	-36.469136	13.708127	7	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100667151	100667151	7559	23	G	T	T	T	624	48	HNRNPH2	2	2
GPRASP2	114928	broad.mit.edu	37	X	101970465	101970465	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101970465G>T	uc004ejk.2	+	c.668G>T	c.(667-669)GGG>GTG	p.G223V	GPRASP2_uc004ejl.2_Missense_Mutation_p.G223V|GPRASP2_uc004ejm.2_Missense_Mutation_p.G223V|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	223						cytoplasm	protein binding			ovary(1)	1														0.140244	64.847118	105.839944	46	282	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101970465	101970465	6999	23	G	T	T	T	559	43	GPRASP2	2	2
FAM199X	139231	broad.mit.edu	37	X	103434287	103434287	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:103434287A>T	uc004elw.2	+	c.997_splice	c.e6-2	p.K333_splice	FAM199X_uc004elx.2_Splice_Site_SNP_p.K107_splice	NM_207318	NP_997201			hypothetical protein LOC139231											ovary(1)	1														0.104046	16.42559	43.413551	18	155	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	103434287	103434287	5744	23	A	T	T	T	91	7	FAM199X	5	3
ESX1	80712	broad.mit.edu	37	X	103495005	103495005	+	Silent	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:103495005C>T	uc004ely.2	-	c.1125G>A	c.(1123-1125)CTG>CTA	p.L375L		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	375	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.|15.				regulation of cell cycle|regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity			ovary(1)	1						Pancreas(200;1705 2227 25194 28471 45274)								0.163265	13.479433	18.751513	8	41	KEEP	---	---	---	---	capture		Silent	SNP	103495005	103495005	5456	23	C	T	T	T	314	25	ESX1	2	2
CAPN6	827	broad.mit.edu	37	X	110494202	110494202	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110494202C>A	uc004epc.1	-	c.1101G>T	c.(1099-1101)CTG>CTT	p.L367L	CAPN6_uc011msu.1_Silent_p.L112L	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	367	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6														0.165605	254.100822	354.277632	156	786	KEEP	---	---	---	---	capture		Silent	SNP	110494202	110494202	2748	23	C	A	A	A	366	29	CAPN6	2	2
SLC9A6	10479	broad.mit.edu	37	X	135126719	135126719	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135126719G>T	uc004ezk.2	+	c.1942G>T	c.(1942-1944)GCC>TCC	p.A648S	SLC9A6_uc004ezj.2_Missense_Mutation_p.A616S	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	616					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.271084	118.438488	126.260734	45	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135126719	135126719	15215	23	G	T	T	T	494	38	SLC9A6	1	1
GPR112	139378	broad.mit.edu	37	X	135430793	135430793	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135430793C>T	uc004ezu.1	+	c.4928C>T	c.(4927-4929)ACG>ATG	p.T1643M	GPR112_uc010nsb.1_Missense_Mutation_p.T1438M|GPR112_uc010nsc.1_Missense_Mutation_p.T1410M	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1643	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.027809	-179.471842	41.445147	25	874	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135430793	135430793	6903	23	C	T	T	T	247	19	GPR112	1	1
ATP11C	286410	broad.mit.edu	37	X	138880848	138880848	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:138880848C>A	uc004faz.2	-	c.774G>T	c.(772-774)GAG>GAT	p.E258D	ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Missense_Mutation_p.E258D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	258	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)													0.082645	-1.253559	20.19748	10	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138880848	138880848	1140	23	C	A	A	A	415	32	ATP11C	2	2
ATP11C	286410	broad.mit.edu	37	X	138880885	138880885	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:138880885T>A	uc004faz.2	-	c.737A>T	c.(736-738)AAT>ATT	p.N246I	ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Missense_Mutation_p.N246I	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	246	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)													0.172131	42.902951	55.292197	21	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138880885	138880885	1140	23	T	A	A	A	676	52	ATP11C	3	3
MAGEA12	4111	broad.mit.edu	37	X	151900542	151900542	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151900542A>G	uc010ntp.2	-	c.259T>C	c.(259-261)TCC>CCC	p.S87P	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.S87P|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	87											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.046053	-17.167185	16.222322	7	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151900542	151900542	9543	23	A	G	G	G	143	11	MAGEA12	4	4
MAP7D2	256714	broad.mit.edu	37	X	20030537	20030537	+	Silent	SNP	G	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:20030537G>A	uc010nfo.1	-	c.2002C>T	c.(2002-2004)CTG>TTG	p.L668L	MAP7D2_uc004czq.1_Silent_p.L512L|MAP7D2_uc011mji.1_Silent_p.L575L|MAP7D2_uc004czr.1_Silent_p.L627L|MAP7D2_uc011mjj.1_Silent_p.L582L	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	627										ovary(2)|breast(1)	3														0.072016	-11.678636	80.003979	35	451	KEEP	---	---	---	---	capture		Silent	SNP	20030537	20030537	9651	23	G	A	A	A	425	33	MAP7D2	2	2
CNKSR2	22866	broad.mit.edu	37	X	21545047	21545047	+	Silent	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21545047C>A	uc004czx.1	+	c.1020C>A	c.(1018-1020)CCC>CCA	p.P340P	CNKSR2_uc004czw.2_Silent_p.P340P|CNKSR2_uc011mjn.1_Silent_p.P291P|CNKSR2_uc011mjo.1_Silent_p.P340P|CNKSR2_uc004czy.2_5'UTR	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	340	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)	1														0.135959	168.983799	269.94055	107	680	KEEP	---	---	---	---	capture		Silent	SNP	21545047	21545047	3745	23	C	A	A	A	262	21	CNKSR2	2	2
POLA1	5422	broad.mit.edu	37	X	24722559	24722559	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24722559G>C	uc004dbl.2	+	c.301G>C	c.(301-303)GAT>CAT	p.D101H	POLA1_uc004dbm.2_Missense_Mutation_p.D107H|POLA1_uc004dbn.2_5'UTR	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	101	Asp-rich.				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)									0.027027	-146.833873	45.13152	21	756	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24722559	24722559	12615	23	G	C	C	C	429	33	POLA1	3	3
FAM47A	158724	broad.mit.edu	37	X	34148121	34148121	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34148121C>A	uc004ddg.2	-	c.2275G>T	c.(2275-2277)GCC>TCC	p.A759S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	759										ovary(4)|central_nervous_system(1)	5														0.041783	-51.933889	29.024194	15	344	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34148121	34148121	5790	23	C	A	A	A	325	25	FAM47A	2	2
FAM47A	158724	broad.mit.edu	37	X	34149640	34149640	+	Silent	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34149640G>T	uc004ddg.2	-	c.756C>A	c.(754-756)CCC>CCA	p.P252P		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	252	Pro-rich.									ovary(4)|central_nervous_system(1)	5														0.070796	-3.987658	17.385802	8	105	KEEP	---	---	---	---	capture		Silent	SNP	34149640	34149640	5790	23	G	T	T	T	600	47	FAM47A	2	2
CXorf22	170063	broad.mit.edu	37	X	35966554	35966554	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:35966554T>A	uc004ddj.2	+	c.641T>A	c.(640-642)GTA>GAA	p.V214E	CXorf22_uc010ngv.2_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	214										large_intestine(1)|lung(1)|ovary(1)	3														0.072727	-7.766058	33.552607	16	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35966554	35966554	4262	23	T	A	A	A	741	57	CXorf22	3	3
WNK3	65267	broad.mit.edu	37	X	54319353	54319353	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54319353G>T	uc004dtc.1	-	c.2005C>A	c.(2005-2007)CCA>ACA	p.P669T	WNK3_uc004dtd.1_Missense_Mutation_p.P669T	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 1	669					intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11										290				0.056738	-13.07884	15.989094	8	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54319353	54319353	17953	23	G	T	T	T	559	43	WNK3	2	2
NLGN4X	57502	broad.mit.edu	37	X	5827266	5827266	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:5827266C>A	uc010ndi.2	-	c.751G>T	c.(751-753)GGT>TGT	p.G251C	NLGN4X_uc004crp.2_Missense_Mutation_p.G234C|NLGN4X_uc010ndh.2_Missense_Mutation_p.G214C|NLGN4X_uc004crq.2_Missense_Mutation_p.G214C|NLGN4X_uc004crr.2_Missense_Mutation_p.G214C|NLGN4X_uc010ndj.2_Missense_Mutation_p.G214C	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	214	Extracellular (Potential).		G -> S (in a colorectal cancer sample; somatic mutation).		brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity	p.G214S(1)		large_intestine(1)|skin(1)	2														0.059701	-8.283258	18.863381	8	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5827266	5827266	10867	23	C	A	A	A	299	23	NLGN4X	1	1
SHOX	6473	broad.mit.edu	37	X	591812	591812	+	Silent	SNP	G	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:591812G>C	uc004cph.1	+	c.180G>C	c.(178-180)ACG>ACC	p.T60T	SHOX_uc004cpi.2_Silent_p.T60T	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	60					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator 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)				Ovarian(95;18 1419 12424 14056 28266)								0.3	7.921865	8.278853	3	7	KEEP	---	---	---	---	capture		Silent	SNP	591812	591812	14783	23	G	C	C	C	496	39	SHOX	3	3
ATG2A	23130	broad.mit.edu	37	11	64678325	64678326	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64678325_64678326delAG	uc001obx.2	-	c.1567_1568delCT	c.(1567-1569)CTGfs	p.L523fs		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	523							protein binding			ovary(1)|central_nervous_system(1)	2														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	64678325	64678326	1112	11	AG	-	-	-	91	7	ATG2A	5	5
SCARB1	949	broad.mit.edu	37	12	125263027	125263028	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:125263027_125263028insG	uc001ugn.3	-	c.1506_1507insC	c.(1504-1509)CCCAGCfs	p.P502fs	SCARB1_uc001ugm.3_3'UTR|SCARB1_uc010tbd.1_3'UTR|SCARB1_uc001ugo.3_3'UTR	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 2	Error:Variant_position_missing_in_Q8WTV0_after_alignment					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|regulation of phagocytosis|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)									0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	125263027	125263028	14362	12	-	G	G	G	715	55	SCARB1	5	5
KIF26A	26153	broad.mit.edu	37	14	104642924	104642925	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:104642924_104642925insC	uc001yos.3	+	c.3799_3800insC	c.(3799-3801)TCCfs	p.S1267fs		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1267					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	104642924	104642925	8605	14	-	C	C	C	702	54	KIF26A	5	5
IFRD2	7866	broad.mit.edu	37	3	50326997	50326998	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50326997_50326998insC	uc003czb.2	-	c.1157_1158insG	c.(1156-1158)GGCfs	p.G386fs	IFRD2_uc011bdp.1_Frame_Shift_Ins_p.G284fs	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	284							binding			ovary(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	50326997	50326998	7855	3	-	C	C	C	587	46	IFRD2	5	5
NKX3-2	579	broad.mit.edu	37	4	13545701	13545702	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13545701_13545702insC	uc003gmx.2	-	c.337_338insG	c.(337-339)GCCfs	p.A113fs		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	113					negative regulation of chondrocyte differentiation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	13545701	13545702	10859	4	-	C	C	C	546	42	NKX3-2	5	5
MYO10	4651	broad.mit.edu	37	5	16701082	16701083	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16701082_16701083insC	uc003jft.3	-	c.3421_3422insG	c.(3421-3423)GCGfs	p.A1141fs	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Frame_Shift_Ins_p.A498fs|MYO10_uc011cne.1_Frame_Shift_Ins_p.A498fs|MYO10_uc010itx.2_Frame_Shift_Ins_p.A764fs	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1141					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	16701082	16701083	10457	5	-	C	C	C	494	38	MYO10	5	5
SHB	6461	broad.mit.edu	37	9	38068518	38068519	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z056-01	TCGA-17-Z056-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:38068518_38068519insG	uc004aax.2	-	c.124_125insC	c.(124-126)CAGfs	p.Q42fs		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	42	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)	2		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	38068518	38068519	14760	9	-	G	G	G	715	55	SHB	5	5
