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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	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	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HIVEP3	59269	broad.mit.edu	37	1	42048832	42048832	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:42048832G>A	uc001cgz.3	-	4	2850	c.1637C>T	c.(1636-1638)GCC>GTC	p.A546V	HIVEP3_uc001cha.3_Missense_Mutation_p.A546V|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	546	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGTGCAGGCGGCAGAAGGCAT	0.602000													3	33					0	0	0.004672	0	0
FUBP1	8880	broad.mit.edu	37	1	78429848	78429848	+	Splice_Site	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:78429848C>T	uc001dii.2	-	12	1030	c.941_splice	c.e12-1	p.D314_splice	FUBP1_uc001dih.3_Splice_Site|FUBP1_uc010orm.1_Splice_Site_p.D335_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein						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						GTCCCATCATCTTCAAAACAA	0.363000													136	20					0	0	0.003610	0	0
ZMYND11	10771	broad.mit.edu	37	10	285431	285431	+	Silent	SNP	A	G	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr10:285431A>G	uc010pzt.1	+	7	1091	c.663A>G	c.(661-663)CAA>CAG	p.Q221Q	ZMYND11_uc001ifk.2_Silent_p.Q221Q|ZMYND11_uc010pzu.1_Silent_p.Q221Q|ZMYND11_uc010pzv.1_Silent_p.Q167Q|ZMYND11_uc010pzw.1_Silent_p.Q136Q|ZMYND11_uc001ifm.2_Silent_p.Q167Q|ZMYND11_uc010pzx.1_Silent_p.Q221Q|ZMYND11_uc001ifn.2_Silent_p.Q167Q|ZMYND11_uc009xhg.2_Silent_p.Q204Q|ZMYND11_uc009xhh.2_Silent_p.Q121Q|ZMYND11_uc010pzy.1_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	181	Bromo.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGATGCCCAATTGCTTCTCC	0.348000													83	138					0	0	0.003610	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136683	40136683	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:40136683A>G	uc001mxa.1	-	2	3124	c.1160T>C	c.(1159-1161)ATT>ACT	p.I387T	LRRC4C_uc001mxc.1_Missense_Mutation_p.I383T|LRRC4C_uc001mxd.1_Missense_Mutation_p.I383T|LRRC4C_uc001mxb.1_Missense_Mutation_p.I383T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	387	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTGGAGTAATCCAAGATAC	0.493000													179	161					0	0	0.003610	0	0
OR5D18	219438	broad.mit.edu	37	11	55587721	55587721	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:55587721T>C	uc010rin.1	+	1	616	c.616T>C	c.(616-618)TTT>CTT	p.F206L		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TCTTGCCACCTTTAATGAAAT	0.443000													4	247					0	0	0.001168	0	0
CFL1	1072	broad.mit.edu	37	11	65623202	65623202	+	Splice_Site	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:65623202C>T	uc001ofs.2	-	3	546	c.312_splice	c.e3-1	p.W104_splice	CFL1_uc001oft.2_Splice_Site_p.W104_splice|CFL1_uc001ofu.2_3'UTR	NM_005507	NP_005498	P23528	COF1_HUMAN	cofilin 1 (non-muscle)						actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding				0				READ - Rectum adenocarcinoma(159;0.169)		CTCGGGGGCCCTGGACAGAAA	0.542000													6	84					0	0	0.001168	0	0
NLRX1	79671	broad.mit.edu	37	11	119045448	119045448	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:119045448C>T	uc001pvu.2	+	6	1351	c.1136C>T	c.(1135-1137)GCC>GTC	p.A379V	NLRX1_uc010rzc.1_Missense_Mutation_p.A201V|NLRX1_uc001pvv.2_Missense_Mutation_p.A379V|NLRX1_uc001pvw.2_Missense_Mutation_p.A379V|NLRX1_uc001pvx.2_Missense_Mutation_p.A379V	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	379	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCGTTTGTGCCACCTTGCAC	0.617000													4	146					0	0	0.000248	0	0
ARNTL2	56938	broad.mit.edu	37	12	27542188	27542188	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:27542188C>T	uc001rht.1	+	8	752	c.734C>T	c.(733-735)TCT>TTT	p.S245F	ARNTL2_uc001rhw.2_Missense_Mutation_p.S208F|ARNTL2_uc010sjp.1_Missense_Mutation_p.S208F|ARNTL2_uc001rhu.1_Missense_Mutation_p.S231F|ARNTL2_uc009zji.1_Missense_Mutation_p.S211F|ARNTL2_uc001rhv.1_Missense_Mutation_p.S197F	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	245	PAS 1.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAACTTTCTTCTTTTGATATT	0.323000													55	104					0	0	0.003610	0	0
KRT86	3892	broad.mit.edu	37	12	52698737	52698737	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:52698737C>T	uc010snq.1	+	5	794	c.661C>T	c.(661-663)CGC>TGC	p.R221C	KRT86_uc009zmg.2_Missense_Mutation_p.R221C|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.R221C	NM_002284	NP_002275	O43790	KRT86_HUMAN	keratin 86	221	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCCTACCTCCGCAAATCAGA	0.597000													175	213					0	0	0.003610	0	0
ESPL1	9700	broad.mit.edu	37	12	53680351	53680351	+	Silent	SNP	A	G	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:53680351A>G	uc001sck.2	+	18	3922	c.3831A>G	c.(3829-3831)CTA>CTG	p.L1277L	ESPL1_uc001scj.2_Silent_p.L952L|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1277					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TCACAAAACTAGGTGGCCTCA	0.542000													120	121					0	0	0.003610	0	0
SETD8	387893	broad.mit.edu	37	12	123875277	123875277	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:123875277A>G	uc001uew.2	+	3	275	c.233A>G	c.(232-234)CAT>CGT	p.H78R	SETD8_uc001uex.2_Missense_Mutation_p.H13R	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TCAGTTACACATCACGAAGTC	0.483000													7	180					0	0	0.001984	0	0
CTSG	1511	broad.mit.edu	37	14	25043477	25043477	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:25043477G>A	uc001wpq.2	-	4	605	c.568C>T	c.(568-570)CGG>TGG	p.R190W		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	190	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		CGTTCCCGCCGGTCCCCCACA	0.617000													37	44					0	0	0.006230	0	0
NID2	22795	broad.mit.edu	37	14	52477708	52477708	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:52477708G>A	uc001wzo.2	-	18	3842	c.3608C>T	c.(3607-3609)ACG>ATG	p.T1203M	NID2_uc010tqs.1_Missense_Mutation_p.T1155M|NID2_uc010tqt.1_Missense_Mutation_p.T1203M	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1203	LDL-receptor class B 2.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					GACACTGTCCGTCCAGTACAT	0.517000													5	275					0	0	0.001984	0	0
EXOC5	10640	broad.mit.edu	37	14	57684716	57684716	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:57684716C>T	uc001xct.2	-	15	1848	c.1597G>A	c.(1597-1599)GAT>AAT	p.D533N	EXOC5_uc001xcs.2_Missense_Mutation_p.D212N|EXOC5_uc010trg.1_Missense_Mutation_p.D478N|EXOC5_uc010trh.1_Missense_Mutation_p.D468N	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	533					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						ATGCCAGTATCCAATTTCATC	0.294000													43	56					0	0	0.002852	0	0
MAX	4149	broad.mit.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:65544747C>T	uc001xif.1	-	4	349	c.179G>A	c.(178-180)CGG>CAG	p.R60Q	MAX_uc001xic.1_Intron|MAX_uc001xie.1_Missense_Mutation_p.R60Q|MAX_uc010aql.1_Intron|MAX_uc001xig.1_Missense_Mutation_p.R51Q|MAX_uc001xih.1_RNA|MAX_uc001xii.1_Missense_Mutation_p.R51Q|MAX_uc001xij.1_Missense_Mutation_p.R60Q	NM_002382	NP_002373	P61244	MAX_HUMAN	MAX protein isoform a	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(1)	1				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498000													51	66					0	0	0.003610	0	0
ADAM20	8748	broad.mit.edu	37	14	70989595	70989595	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:70989595C>T	uc001xme.2	-	2	2275	c.2030G>A	c.(2029-2031)AGT>AAT	p.S677N		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	627	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATGAACCATACTGGCACACTT	0.463000													249	371					0	0	0.003610	0	0
DYX1C1	161582	broad.mit.edu	37	15	55731774	55731774	+	Silent	SNP	T	C	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr15:55731774T>C	uc002adc.2	-	7	1157	c.789A>G	c.(787-789)CTA>CTG	p.L263L	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Silent_p.L263L|DYX1C1_uc002add.2_Silent_p.L263L	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	263					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			skin(1)	1				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CTTGTTTGTGTAGCCACTAGA	0.343000													11	71					0	0	0.006122	0	0
TEX9	374618	broad.mit.edu	37	15	56686922	56686922	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr15:56686922C>G	uc002adp.2	+	9	723	c.718C>G	c.(718-720)CAG>GAG	p.Q240E	TEX9_uc002ado.1_Missense_Mutation_p.Q240E|TEX9_uc010ugl.1_Missense_Mutation_p.Q165E|TEX9_uc002adq.1_Missense_Mutation_p.Q165E	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	testis expressed 9	240	Potential.										0				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TATGAGACAGCAGCGAACAAT	0.284000													12	71					0	0	0.000978	0	0
CNOT1	23019	broad.mit.edu	37	16	58622799	58622799	+	Silent	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr16:58622799C>T	uc002env.2	-	3	407	c.114G>A	c.(112-114)CGG>CGA	p.R38R	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.R38R|CNOT1_uc002enx.2_Silent_p.R38R|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	38					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGGACCGTGCCGATTCACAA	0.373000													3	46					0	0	0.004672	0	0
HSD17B2	3294	broad.mit.edu	37	16	82104639	82104639	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr16:82104639G>A	uc002fgv.2	+	3	743	c.571G>A	c.(571-573)GTG>ATG	p.V191M		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	191					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)	ATGCATGGCCGTGAACTTCTT	0.493000													4	192					0	0	0.000248	0	0
KRT14	3861	broad.mit.edu	37	17	39739491	39739491	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:39739491C>T	uc002hxf.1	-	6	1331	c.1270G>A	c.(1270-1272)GCC>ACC	p.A424T	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	424	Tail.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				ACTCACTGGGCGTCCTCGCCC	0.607000													4	95					0	0	0.000248	0	0
HEATR6	63897	broad.mit.edu	37	17	58133572	58133572	+	Silent	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:58133572G>A	uc002iyk.1	-	13	2123	c.2106C>T	c.(2104-2106)TAC>TAT	p.Y702Y	HEATR6_uc010ddk.1_Silent_p.Y241Y|HEATR6_uc010wos.1_Intron	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	702							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCATTGAAAAGTAGCCCCTTG	0.453000													10	157					0	0	0.006214	0	0
AZU1	566	broad.mit.edu	37	19	831737	831737	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:831737G>A	uc002lpz.1	+	5	632	c.616G>A	c.(616-618)GTC>ATC	p.V206I		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	206	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCCCCTCGTCTGCGAGGG	0.562000													21	25					0	0	0.001523	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830088	7830088	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:7830088G>A	uc002mih.2	+	3	266	c.148G>A	c.(148-150)GCC>ACC	p.A50T	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Missense_Mutation_p.A50T|CLEC4M_uc010dvs.2_Missense_Mutation_p.A49T|CLEC4M_uc010xjx.1_Missense_Mutation_p.A22T|CLEC4M_uc002mhz.2_Missense_Mutation_p.A50T|CLEC4M_uc002mic.2_Missense_Mutation_p.A22T|CLEC4M_uc002mia.2_Intron	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	50	Helical; Signal-anchor for type II membrane protein; (Probable).				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1						TGGCCATGGCGCCCTGGTGCT	0.632000													86	108					0	0	0.003610	0	0
ZNF506	440515	broad.mit.edu	37	19	19906098	19906098	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:19906098G>A	uc010eci.2	-	4	746	c.598C>T	c.(598-600)CGC>TGC	p.R200C	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.R168C	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						CATTTATAGCGTTTCTCTCCA	0.338000													6	109					0	0	0.001168	0	0
CIC	23152	broad.mit.edu	37	19	42799059	42799059	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:42799059C>T	uc002otf.1	+	20	4583	c.4543C>T	c.(4543-4545)CGC>TGC	p.R1515C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.502000			T	DUX4	soft tissue sarcoma								45	12					0	0	0.003214	0	0
PREB	10113	broad.mit.edu	37	2	27355105	27355105	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:27355105C>T	uc002rix.1	-	6	1172	c.919G>A	c.(919-921)GAT>AAT	p.D307N	PREB_uc002riy.1_Missense_Mutation_p.D235N|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Intron	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	307	Cytoplasmic (Potential).|WD 3.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGACATCGAGGCAGGAG	0.617000													114	177					0	0	0.003610	0	0
TMEM131	23505	broad.mit.edu	37	2	98426153	98426153	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:98426153G>A	uc002syh.3	-	19	2282	c.2053C>T	c.(2053-2055)CCA>TCA	p.P685S		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	685						integral to membrane				ovary(4)|central_nervous_system(2)	6						GGTCTTACTGGAAAGGAAGGT	0.423000													3	39					0	0	0.004672	0	0
RIF1	55183	broad.mit.edu	37	2	152320343	152320343	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:152320343A>G	uc002txm.2	+	30	4439	c.4309A>G	c.(4309-4311)AGT>GGT	p.S1437G	RIF1_uc002txl.2_Missense_Mutation_p.S1437G|RIF1_uc002txn.2_Missense_Mutation_p.S1437G|RIF1_uc002txo.2_Missense_Mutation_p.S1437G|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1437					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAAGGAAAATAGTCATCAAAA	0.383000													3	127					0	0	0.004672	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712478	187712478	+	Silent	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:187712478C>T	uc002upu.1	-	2	250	c.210G>A	c.(208-210)CCG>CCA	p.P70P		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	70	SWIM-type.				apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCCTCCTTTCGGAAATGTGG	0.353000													6	205					0	0	0.003080	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								70	79					0	0	0.003610	0	0
C2orf57	165100	broad.mit.edu	37	2	232458005	232458005	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:232458005G>A	uc002vrz.2	+	1	394	c.343G>A	c.(343-345)GCA>ACA	p.A115T		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	115										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGTTCAAGACGCAAGGACAAG	0.517000													5	209					0	0	0.000602	0	0
KIF16B	55614	broad.mit.edu	37	20	16360615	16360615	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr20:16360615T>C	uc002wpg.1	-	19	2190	c.2032A>G	c.(2032-2034)AAA>GAA	p.K678E	KIF16B_uc002wpe.1_Missense_Mutation_p.K60E|KIF16B_uc002wpf.1_Missense_Mutation_p.K60E|KIF16B_uc010gch.1_Missense_Mutation_p.K678E|KIF16B_uc010gci.1_Missense_Mutation_p.K678E|KIF16B_uc010gcj.1_Missense_Mutation_p.K689E	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	678	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCTTCAAATTTTTCCTTCTCC	0.498000													40	250					0	0	0.005524	0	0
SMC1B	27127	broad.mit.edu	37	22	45768073	45768073	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr22:45768073C>A	uc003bgc.2	-	13	2210	c.2158G>T	c.(2158-2160)GAG>TAG	p.E720*	SMC1B_uc003bgd.2_Nonsense_Mutation_p.E720*|SMC1B_uc003bge.1_Nonsense_Mutation_p.E503*	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	720	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTAATCATCTCTAGTTCATTT	0.348000													5	173					0.00116845	0.00148303	0.001168	1	0
MKRN2	23609	broad.mit.edu	37	3	12613687	12613687	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:12613687A>G	uc003bxd.2	+	4	513	c.457A>G	c.(457-459)AGT>GGT	p.S153G	MKRN2_uc003bxe.2_Missense_Mutation_p.S151G|MKRN2_uc011aus.1_Missense_Mutation_p.S110G	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	153						intracellular	ligase activity|nucleic acid binding|zinc ion binding				0						TGCCATCAGGAGTGGCCTTGA	0.627000													54	50					0	0	0.003610	0	0
TTC21A	199223	broad.mit.edu	37	3	39170636	39170636	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:39170636T>C	uc003cjc.2	+	15	2168	c.1991T>C	c.(1990-1992)ATT>ACT	p.I664T	TTC21A_uc003cje.2_Missense_Mutation_p.I665T|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.I616T	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	664							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CGCATCACCATTGCCAACGTG	0.522000													70	82					0	0	0.003610	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041457	47041457	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:47041457C>T	uc003cqp.2	+	27	4047	c.3868C>T	c.(3868-3870)CGG>TGG	p.R1290W	NBEAL2_uc010hjm.1_Intron|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1290							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTGCTGACCCGGCTATATGT	0.637000													3	30					0	0	0.004672	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258211	25258211	+	Missense_Mutation	SNP	G	A	A	rs115874249	by1000genomes	TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:25258211G>A	uc003grk.2	+	4	804	c.671G>A	c.(670-672)CGT>CAT	p.R224H	PI4K2B_uc011bxs.1_Missense_Mutation_p.R128H	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	224	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)				GCGATTGACCGTGCAAAATCA	0.358000													6	210					0	0	0.001168	0	0
FBXL7	23194	broad.mit.edu	37	5	15937211	15937211	+	Silent	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr5:15937211C>T	uc003jfn.1	+	4	1873	c.1392C>T	c.(1390-1392)TGC>TGT	p.C464C		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	464					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						TCCAGGACTGCGAGGTCTCCG	0.607000													18	46					0	0	0.006122	0	0
MTX3	345778	broad.mit.edu	37	5	79282781	79282781	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr5:79282781C>T	uc010jag.2	-	7	758	c.731G>A	c.(730-732)AGT>AAT	p.S244N	MTX3_uc010jah.2_Missense_Mutation_p.S244N|MTX3_uc003kge.3_Missense_Mutation_p.S183N|MTX3_uc003kgf.1_RNA	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN	metaxin 3	244					protein targeting to mitochondrion	mitochondrial outer membrane					0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		ACCTCCAAGACTAAGCCTAAA	0.363000													7	147					0	0	0.004482	0	0
VPS52	6293	broad.mit.edu	37	6	33235064	33235064	+	Silent	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:33235064G>A	uc003odm.1	-	11	1236	c.1026C>T	c.(1024-1026)AAC>AAT	p.N342N	VPS52_uc003odn.1_Intron	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	342					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						TGAAAATGGTGTTCCTGCTGC	0.562000													63	98					0	0	0.003610	0	0
TEAD3	7005	broad.mit.edu	37	6	35446212	35446212	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:35446212C>T	uc003oku.3	-	6	715	c.479G>A	c.(478-480)CGG>CAG	p.R160Q	TEAD3_uc003okt.2_Missense_Mutation_p.R49Q|TEAD3_uc010jvx.2_Missense_Mutation_p.R100Q	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	160	Pro-rich.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCCATGTACCCGCGAGGAAGT	0.617000													3	44					0	0	0.000602	0	0
MRPL2	51069	broad.mit.edu	37	6	43023893	43023893	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:43023893C>T	uc003ots.1	-	4	569	c.446G>A	c.(445-447)CGC>CAC	p.R149H	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_Missense_Mutation_p.R149H	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	149					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GATGATCCAGCGTTTCCGGCT	0.537000													50	75					0	0	0.003610	0	0
ABCC10	89845	broad.mit.edu	37	6	43413455	43413455	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:43413455C>T	uc003ouy.1	+	15	3364	c.3149C>T	c.(3148-3150)GCG>GTG	p.A1050V	ABCC10_uc003ouz.1_Missense_Mutation_p.A1022V|ABCC10_uc010jyo.1_Missense_Mutation_p.A156V	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1050	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGCCAACGCGGCAGGCCTG	0.642000													4	94					0	0	0.001168	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802897	109802897	+	Silent	SNP	A	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:109802897A>T	uc003ptl.1	-	2	501	c.333T>A	c.(331-333)GCT>GCA	p.A111A	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.A111A|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Silent_p.A111A	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	111	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ACTGAGCAGTAGCCAGGATTT	0.438000													5	290					0	0	0.000602	0	0
CPA5	93979	broad.mit.edu	37	7	129989914	129989914	+	Silent	SNP	T	C	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr7:129989914T>C	uc010lmd.1	+	6	917	c.297T>C	c.(295-297)CAT>CAC	p.H99H	CPA5_uc003vps.2_Silent_p.H99H|CPA5_uc003vpt.2_Silent_p.H99H|CPA5_uc010lme.1_Silent_p.H99H|CPA5_uc003vpu.1_Silent_p.H99H	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	99					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					TGGAGTCTCATGGACTTGCTT	0.552000													5	328					0	0	0.001168	0	0
ZNF425	155054	broad.mit.edu	37	7	148801188	148801188	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr7:148801188G>A	uc003wfj.2	-	4	1848	c.1775C>T	c.(1774-1776)ACG>ATG	p.T592M		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	592	C2H2-type 14.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGACTGATGCGTGTAGGTCTT	0.577000													8	165					0	0	0.006214	0	0
DPYSL2	1808	broad.mit.edu	37	8	26484191	26484191	+	Silent	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr8:26484191C>T	uc003xfb.1	+	5	887	c.537C>T	c.(535-537)TGC>TGT	p.C179C	DPYSL2_uc003xfa.2_Silent_p.C284C|DPYSL2_uc011lag.1_Silent_p.C179C|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.C143C	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	179					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TAACGGATTGCCAGGTAAGAA	0.463000													6	236					0	0	0.006214	0	0
ACO1	48	broad.mit.edu	37	9	32448928	32448928	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr9:32448928G>A	uc003zqw.3	+	20	2560	c.2405G>A	c.(2404-2406)CGC>CAC	p.R802H	ACO1_uc003zqx.3_Missense_Mutation_p.R802H|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	802					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGCTACGAGCGCATTCACCGC	0.483000													5	161					0	0	0.000602	0	0
FAM75C1	441452	broad.mit.edu	37	9	90538104	90538104	+	Silent	SNP	A	C	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr9:90538104A>C	uc010mqi.2	+	4	3311	c.3282A>C	c.(3280-3282)CCA>CCC	p.P1094P	FAM75C1_uc004apq.3_Silent_p.P1077P	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						TTCAAGCCCCAGTCTGTGGGT	0.527000													4	187					0	0	0.000248	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418369	139418369	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr9:139418369C>T	uc004chz.2	-	3	203	c.203G>A	c.(202-204)TGC>TAC	p.C68Y		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	68	Extracellular (Potential).|EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGTTCTTGCAGGGGGTGCT	0.677000			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			3	14					0	0	0.004672	0	0
DLG3	1741	broad.mit.edu	37	X	69670626	69670626	+	Silent	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:69670626C>T	uc004dyi.1	+	6	1306	c.978C>T	c.(976-978)TAC>TAT	p.Y326Y	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	326					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CCCCTGACTACGCCAGCAGTA	0.532000													17	104					0	0	0.001882	0	0
ATRX	546	broad.mit.edu	37	X	76949414	76949414	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:76949414A>G	uc004ecp.3	-	6	615	c.383T>C	c.(382-384)GTA>GCA	p.V128A	ATRX_uc004ecq.3_Intron|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Intron|ATRX_uc010nlx.1_Missense_Mutation_p.V128A|ATRX_uc010nly.1_Missense_Mutation_p.V73A	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	128					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CTCTGGCTGTACAATCACTGT	0.348000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						83	203					0	0	0.003610	0	0
COL4A5	1287	broad.mit.edu	37	X	107930900	107930900	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:107930900A>G	uc004enz.1	+	48	4706	c.4504A>G	c.(4504-4506)AAA>GAA	p.K1502E	COL4A5_uc011mso.1_Missense_Mutation_p.K1499E|COL4A5_uc011msp.1_Missense_Mutation_p.K178E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1496	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						ACAAGGAAATAAAAGAGCCCA	0.433000									Alport_syndrome_with_Diffuse_Leiomyomatosis				20	419					0	0	0.002299	0	0
AMMECR1	9949	broad.mit.edu	37	X	109444269	109444269	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:109444269T>C	uc004eoo.2	-	5	881	c.800A>G	c.(799-801)CAT>CGT	p.H267R	AMMECR1_uc004eop.2_Missense_Mutation_p.H230R|AMMECR1_uc004eoq.2_Missense_Mutation_p.H144R	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	267	AMMECR1.										0						GGTCTGTATATGGTCCCATCC	0.373000													147	168					0	0	0.003610	0	0
GPC3	2719	broad.mit.edu	37	X	132887716	132887716	+	Silent	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:132887716G>A	uc004exe.1	-	3	1015	c.825C>T	c.(823-825)GGC>GGT	p.G275G	GPC3_uc004exd.1_Silent_p.G147G|GPC3_uc010nrn.1_Silent_p.G275G|GPC3_uc011mvh.1_Silent_p.G259G|GPC3_uc010nro.1_Silent_p.G221G|GPC3_uc010nrp.1_Silent_p.G147G	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	275						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TGCAGTAACCGCCACAGGGTT	0.483000			T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				156	128					0	0	0.003610	0	0
GPR50	9248	broad.mit.edu	37	X	150349210	150349210	+	Missense_Mutation	SNP	C	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:150349210C>A	uc010ntg.1	+	2	1290	c.1155C>A	c.(1153-1155)CAC>CAA	p.H385Q	uc004fes.1_5'Flank	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	385	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCCACCCTAAGCCCC	0.582000													124	157					1.75558e-51	2.28688e-51	0.003610	1	0
ARHGAP4	393	broad.mit.edu	37	X	153175536	153175536	+	Silent	SNP	G	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153175536G>A	uc004fjk.1	-	18	2202	c.2160C>T	c.(2158-2160)GAC>GAT	p.D720D	ARHGAP4_uc004fjj.1_Silent_p.D71D|ARHGAP4_uc011mzf.1_Silent_p.D697D|ARHGAP4_uc004fjl.1_Silent_p.D760D|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	720					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTGGGCGTCCCTGAGGT	0.682000													7	94					0	0	0.001984	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421916	153421916	+	Missense_Mutation	SNP	G	A	A	rs1065440	byFrequency	TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153421916G>A	uc004fjz.3	+	5	925	c.892G>A	c.(892-894)GCC>ACC	p.A298T		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	298	Extracellular.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTGGTTACGCCTTCCACCC	0.542000													8	500					0	0	0.000978	0	0
GDI1	2664	broad.mit.edu	37	X	153668416	153668416	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153668416C>T	uc004fli.3	+	5	859	c.517C>T	c.(517-519)CGG>TGG	p.R173W	GDI1_uc011mzo.1_Missense_Mutation_p.R173W|GDI1_uc004flj.2_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	173					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACGTCTACCGGAAGTTTGA	0.577000													293	485					0	0	0.003610	0	0
Unknown	0	broad.mit.edu	37	17	43617306	43617307	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:43617306_43617307delTG	uc002ijh.2	-	4	1199_1200	c.1078_1079delCA	c.(1078-1080)CAGfs	p.Q360fs	uc010wjv.1_RNA					Homo sapiens cDNA FLJ45049 fis, clone BRAWH3022347.																		TTCAATAGACTGTATTTTATTG	0.243													8	247	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	-	-			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:4204225_4204229delTTGAG	uc003ghp.1	-	4	706_710	c.676_680delCTCAA	c.(676-681)CTCAATfs	p.L226fs		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226_227					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													7	238	---	---	---	---					
ALPK1	80216	broad.mit.edu	37	4	113356325	113356326	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:113356325_113356326insA	uc003iap.3	+	12	3335_3336	c.3056_3057insA	c.(3055-3057)TCAfs	p.S1019fs	ALPK1_uc003ian.3_Frame_Shift_Ins_p.S1019fs|ALPK1_uc011cfx.1_Frame_Shift_Ins_p.S941fs|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Frame_Shift_Ins_p.S847fs	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1019	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAAATATTCAAAAAAATCTG	0.356													9	540	---	---	---	---					
BBS7	55212	broad.mit.edu	37	4	122776708	122776708	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:122776708delA	uc003ied.2	-	6	711	c.537delT	c.(535-537)GATfs	p.D179fs	BBS7_uc003iee.1_Frame_Shift_Del_p.D179fs	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	179					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						CATACATCACATCAGATCCCT	0.348									Bardet-Biedl_syndrome				15	297	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	-	-	rs72249350		TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:38079976_38079978delGCA	uc004ddy.1	-	1	154_156	c.68_70delTGC	c.(67-72)CTGCGC>CGC	p.L23del	SRPX_uc004ddz.1_In_Frame_Del_p.L23del|SRPX_uc011mkh.1_In_Frame_Del_p.L23del|SRPX_uc011mki.1_In_Frame_Del_p.L23del	NM_006307	NP_006298	P78539	SRPX_HUMAN	sushi-repeat-containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane					0						GGCGGGACGCgcagcagcagcag	0.576											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	2	---	---	---	---					
