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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample							
CALML6	163688	broad.mit.edu	37	1	1848429	1848429	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:1848429G>T	uc001aih.1	+	5	869	c.415G>T	c.(415-417)GCA>TCA	p.A139S		NM_138705	NP_619650	Q8TD86	CALL6_HUMAN	calmodulin-like 6	139	EF-hand 3.					cytoplasm|nucleus	calcium ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTAATGAACGCAGGGGAGCC	0.667		NaN											1	0	8.34094e-07	0.049695	8.73136e-07	20	43									
ACOT7	11332	broad.mit.edu	37	1	6445578	6445578	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:6445578G>C	uc001ams.2	-	1	306	c.149C>G	c.(148-150)CCC>CGC	p.P50R	ACOT7_uc010nzq.1_Intron|ACOT7_uc001amt.2_Intron|ACOT7_uc001amu.2_Intron|ACOT7_uc001amv.2_Intron	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	50						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCTCCACAGGGTGGGAGATC	0.652		NaN											0	0	0	0.048971	0	90	154									
GRIK3	2899	broad.mit.edu	37	1	37319237	37319237	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:37319237C>A	uc001caz.2	-	8	1326	c.1191G>T	c.(1189-1191)CTG>CTT	p.L397L	GRIK3_uc001cba.1_Silent_p.L397L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	397	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATCCTCTTTCAGGCTGATGA	0.542		NaN											1	0	1.42536e-11	0.099896	1.53788e-11	28	41									
LRRC7	57554	broad.mit.edu	37	1	70488833	70488833	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:70488833G>A	uc001dep.2	+	15	1486	c.1456G>A	c.(1456-1458)GAA>AAA	p.E486K	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	486						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AGCCCCCTGGGAAAGGGGCCA	0.517		NaN											0	0	0	0.038395	0	18	71									
LRRC40	55631	broad.mit.edu	37	1	70616831	70616831	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:70616831C>T	uc001der.1	-	13	1549	c.1497G>A	c.(1495-1497)ACG>ACA	p.T499T		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	499	LRR 17.									ovary(1)	1						AAAGATTGATCGTTTGCAGTC	0.294		NaN											0	0	0	0.038147	0	6	22									
KCNA10	3744	broad.mit.edu	37	1	111061072	111061072	+	Missense_Mutation	SNP	C	C	T	rs141128096		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:111061072C>T	uc001dzt.1	-	1	726	c.338G>A	c.(337-339)GGA>GAA	p.G113E		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	113						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTCCCGGTCTCCCAGGAGAGT	0.458		NaN											0	0	0	0.055883	0	21	44									
SEC22B	9554	broad.mit.edu	37	1	145103968	145103968	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:145103968G>A	uc001eml.1	+	4	276	c.136G>A	c.(136-138)GAA>AAA	p.E46K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	46	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						AAAGTTGAATGAACAGTCCCC	0.383		NaN											0	0	0	0.0333	0	16	33									
FLG	2312	broad.mit.edu	37	1	152283577	152283577	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:152283577G>C	uc001ezu.1	-	3	3821	c.3785C>G	c.(3784-3786)ACA>AGA	p.T1262R	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1262	Ser-rich.|Filaggrin 7.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGCTTGTCCTGGACCC	0.532		NaN							Ichthyosis				0	0	0	0.048971	0	87	771									
FLG2	388698	broad.mit.edu	37	1	152324511	152324511	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:152324511C>G	uc001ezw.3	-	3	5824	c.5751G>C	c.(5749-5751)AAG>AAC	p.K1917N	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1917							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGGTGTCTCTTGTGAACTG	0.502		NaN											0	0	0	0.048971	0	70	546									
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:155161799T>G	uc010pft.1	-	2	400	c.334A>C	c.(334-336)ACC>CCC	p.T112P	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Missense_Mutation_p.T121P|MUC1_uc001fiw.1_Missense_Mutation_p.T112P			P15941	MUC1_HUMAN	SubName: Full=MUC1 isoform M13;	112	Extracellular (Potential).|3.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711		NaN	T	IGH@	B-NHL								0	0	0	0.099896	0	16	62									
IQGAP3	128239	broad.mit.edu	37	1	156500962	156500962	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:156500962G>A	uc001fpf.2	-	33	4256	c.4181C>T	c.(4180-4182)TCC>TTC	p.S1394F		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1394					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGCTCTCTGGAAGCCGAGAG	0.582		NaN											0	0	0	0.048971	0	42	267									
CD1E	913	broad.mit.edu	37	1	158325145	158325145	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:158325145C>T	uc001fse.2	+	3	650	c.411C>T	c.(409-411)TTC>TTT	p.F137F	CD1E_uc010pid.1_Silent_p.F135F|CD1E_uc010pie.1_Silent_p.F38F|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.F137F|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.F137F|CD1E_uc001fry.2_Silent_p.F137F|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.F137F|CD1E_uc009wsv.2_Silent_p.F38F|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	137					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CACAAATCTTCTTAAATATGG	0.463		NaN											0	0	0	0.11126	0	43	257									
F5	2153	broad.mit.edu	37	1	169505755	169505755	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:169505755C>T	uc001ggg.1	-	14	5105	c.4960G>A	c.(4960-4962)GAT>AAT	p.D1654N		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1654	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGGATAACATCATCCACTTCA	0.458		NaN											0	0	0	0.021553	0	5	26									
FAM5C	339479	broad.mit.edu	37	1	190067739	190067739	+	Silent	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:190067739A>C	uc001gse.1	-	8	1942	c.1710T>G	c.(1708-1710)GCT>GCG	p.A570A	FAM5C_uc010pot.1_Silent_p.A468A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	570						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TGACATAAACAGCCAACACTG	0.453		NaN											0	0	0	0.014758	0	5	125									
CD34	947	broad.mit.edu	37	1	208072507	208072507	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:208072507A>G	uc001hgw.1	-	3	585	c.327T>C	c.(325-327)TCT>TCC	p.S109S	CD34_uc001hgx.1_Silent_p.S109S|CD34_uc010psj.1_Intron	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	109	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						GTGACTGGACAGAAGAGTTTG	0.468		NaN											0	0	0	0.048971	0	130	64									
DISP1	84976	broad.mit.edu	37	1	223177436	223177436	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:223177436G>A	uc001hnu.1	+	8	2844	c.2697G>A	c.(2695-2697)AGG>AGA	p.R899R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	899					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		AGCTGGAAAGGAGTACAGGGT	0.493		NaN											0	0	0	0.108266	0	27	45									
SUSD4	55061	broad.mit.edu	37	1	223465953	223465953	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:223465953G>A	uc001hnx.2	-	2	823	c.189C>T	c.(187-189)CCC>CCT	p.P63P	SUSD4_uc001hny.3_Silent_p.P63P|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Silent_p.P63P|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	63	Sushi 1.|Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		AGCCATTCTCGGGAATGCCGG	0.517		NaN											0	0	0	0.048971	0	47	32									
RGS7	6000	broad.mit.edu	37	1	241099994	241099994	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:241099994T>C	uc001hyv.2	-	5	569	c.239A>G	c.(238-240)CAT>CGT	p.H80R	RGS7_uc010pyh.1_Missense_Mutation_p.H54R|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.H80R|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.H80R	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	80	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGTTCCCAAATGGAGCGCCTC	0.383		NaN											0	0	0	0.083992	0	24	49									
OR2M2	391194	broad.mit.edu	37	1	248343646	248343646	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:248343646A>G	uc010pzf.1	+	1	359	c.359A>G	c.(358-360)TAT>TGT	p.Y120C		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	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)			GTTATGGCTTATGACCGCTAT	0.413		NaN											0	0	0	0.048971	0	53	215									
PITRM1	10531	broad.mit.edu	37	10	3180309	3180309	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:3180309C>T	uc010qah.1	-	24	2766	c.2734G>A	c.(2734-2736)GGC>AGC	p.G912S	PITRM1_uc001igr.1_3'UTR|PITRM1_uc001igs.1_Missense_Mutation_p.G115S|PITRM1_uc001igt.1_Missense_Mutation_p.G1010S			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	912					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						TTCCCAGTGCCGAGGTATCTG	0.607		NaN											0	0	0	0.021553	0	5	6									
CDH23	64072	broad.mit.edu	37	10	73571082	73571082	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:73571082A>G	uc001jrx.3	+	61	9465	c.9088A>G	c.(9088-9090)ATG>GTG	p.M3030V	CDH23_uc001jsg.3_Missense_Mutation_p.M790V|CDH23_uc001jsh.3_Missense_Mutation_p.M790V|CDH23_uc001jsi.3_Missense_Mutation_p.M790V|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3030	Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGTGATCCAGATGATCGATGA	0.592		NaN											0	0	0	0.09836	0	39	31									
SORCS3	22986	broad.mit.edu	37	10	106982952	106982952	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:106982952G>C	uc001kyi.1	+	20	3040	c.2813G>C	c.(2812-2814)TGG>TCG	p.W938S	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	938	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		GCAGTCGTGTGGCCCAGTCAA	0.443		NaN											0	0	0	0.048971	0	89	16									
FAM175B	23172	broad.mit.edu	37	10	126523241	126523241	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:126523241G>A	uc001lib.3	+	9	994	c.949G>A	c.(949-951)GAA>AAA	p.E317K		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	317						BRISC complex	polyubiquitin binding				0						AAACAATCAAGAAAGTACTTT	0.517		NaN											0	0	0	0.028581	0	17	37									
CYP2E1	1571	broad.mit.edu	37	10	135350635	135350635	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:135350635G>C	uc001lnj.1	+	7	1069	c.1036G>C	c.(1036-1038)GAG>CAG	p.E346Q	CYP2E1_uc001lnk.1_Missense_Mutation_p.E209Q|CYP2E1_uc009ybl.1_Missense_Mutation_p.E147Q|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.E147Q	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	346					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGATAGGCAAGAGATGCCCTA	0.517		NaN							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				0	0	0	0.020292	0	13	41									
KRTAP5-1	387264	broad.mit.edu	37	11	1605847	1605847	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:1605847G>A	uc001ltu.1	-	1	667	c.633C>T	c.(631-633)CCC>CCT	p.P211P	LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	211	8 X 4 AA repeats of C-C-X-P.					keratin filament					0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCAACACACGGGCACACCGC	0.657		NaN											0	0	0	0.11126	0	40	95									
OR51A4	401666	broad.mit.edu	37	11	4967470	4967470	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:4967470C>T	uc010qys.1	-	1	861	c.861G>A	c.(859-861)CTG>CTA	p.L287L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGTTCGTCAGTGGAGGTA	0.428		NaN											0	0	0	0.041601	0	33	59									
OR10A2	341276	broad.mit.edu	37	11	6891085	6891085	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:6891085C>A	uc001meu.1	+	1	100	c.100C>A	c.(100-102)CTG>ATG	p.L34M		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	34	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCATCATTCTGGTTACCCT	0.463		NaN											1	0	9.59835e-30	0.048971	1.09823e-29	56	127									
OR4X2	119764	broad.mit.edu	37	11	48267353	48267353	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:48267353G>A	uc001ngs.1	+	1	698	c.698G>A	c.(697-699)GGG>GAG	p.G233E		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	233	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCCACCTGTGGGTCCCATTTC	0.522		NaN											0	0	0	0.047766	0	9	47									
OR4C3	256144	broad.mit.edu	37	11	48346728	48346728	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:48346728C>T	uc010rhv.1	+	1	236	c.236C>T	c.(235-237)ACG>ATG	p.T79M		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCCAGCCCCACGCTGGCTTCC	0.448		NaN											0	0	0	0.037714	0	31	60									
OR4C13	283092	broad.mit.edu	37	11	49974164	49974164	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:49974164C>T	uc010rhz.1	+	1	190	c.190C>T	c.(190-192)CTC>TTC	p.L64F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						CCTGGCCTATCTCTCCTTTAT	0.433		NaN											0	0	0	0.099896	0	25	242									
OR5B17	219965	broad.mit.edu	37	11	58126261	58126261	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:58126261G>A	uc010rke.1	-	1	282	c.282C>T	c.(280-282)GCC>GCT	p.A94A		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGCAGCACAGGCACTGTAGG	0.483		NaN											0	0	0	0.054565	0	33	31									
SLC22A12	116085	broad.mit.edu	37	11	64368979	64368979	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:64368979C>T	uc001oam.1	+	10	2365	c.1618C>T	c.(1618-1620)CAT>TAT	p.H540Y	SLC22A12_uc001oal.1_Missense_Mutation_p.H319Y|SLC22A12_uc009yps.1_Missense_Mutation_p.H506Y|SLC22A12_uc001oan.1_Missense_Mutation_p.H432Y	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	540					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						GAAGGCAACACATGGCACGCT	0.567		NaN											0	0	0	0.021553	0	6	17									
MRPL11	65003	broad.mit.edu	37	11	66206132	66206132	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:66206132C>G	uc001ohz.3	-	1	179	c.94G>C	c.(94-96)GGG>CGG	p.G32R	MRPL11_uc001ohy.3_Missense_Mutation_p.G32R|MRPL11_uc001oia.3_Intron	NM_016050	NP_057134	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11 isoform a	32					translation		structural constituent of ribosome				0						AGTGGGGGCCCGGGCATGGCC	0.697		NaN											0	0	0	0.092188	0	38	13									
CLPB	81570	broad.mit.edu	37	11	72012890	72012890	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:72012890G>A	uc001osj.2	-	12	1426	c.1376C>T	c.(1375-1377)GCC>GTC	p.A459V	CLPB_uc010rqx.1_Missense_Mutation_p.A414V|CLPB_uc010rqy.1_Missense_Mutation_p.A400V|CLPB_uc001osk.2_Missense_Mutation_p.A429V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A258V|CLPB_uc001osi.2_Missense_Mutation_p.A67V	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	459					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						ATCTGGATGGGCCTTGTCTAC	0.567		NaN											0	0	0	0.047766	0	9	265									
UCP2	7351	broad.mit.edu	37	11	73689056	73689056	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:73689056C>A	uc001oup.1	-	4	592	c.212G>T	c.(211-213)CGT>CTT	p.R71L	UCP2_uc001ouq.1_Missense_Mutation_p.R71L	NM_003355	NP_003346	P55851	UCP2_HUMAN	uncoupling protein 2	71	Solcar 1.				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding				0	Breast(11;0.000112)					GCCCTCAGTACGCACCATGGT	0.602		NaN											1	0	2.12129e-23	0.048971	2.39374e-23	54	41									
CTSC	1075	broad.mit.edu	37	11	88070744	88070744	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:88070744G>A	uc001pck.3	-	1	198	c.97C>T	c.(97-99)CTT>TTT	p.L33F	CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Missense_Mutation_p.L33F|CTSC_uc001pcn.3_Missense_Mutation_p.L33F	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	33					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCAGGTCAAGATAGGTGCAG	0.672		NaN											0	0	0	0.021553	0	5	6									
FAT3	120114	broad.mit.edu	37	11	92532148	92532148	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:92532148C>T	uc001pdj.3	+	9	5986	c.5969C>T	c.(5968-5970)TCA>TTA	p.S1990L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1990	Extracellular (Potential).|Cadherin 18.				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)				TATTCCACCTCAATCTCAGAG	0.428		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.048971	0	92	135									
DIXDC1	85458	broad.mit.edu	37	11	111853166	111853166	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:111853166A>G	uc001pml.2	+	8	1170	c.873A>G	c.(871-873)TTA>TTG	p.L291L	DIXDC1_uc001pmm.2_Silent_p.L80L|DIXDC1_uc001pmn.2_5'UTR	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	291	Potential.|Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AAGAATATTTAGAAAAAGAAA	0.433		NaN									OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	18									
ABCG4	64137	broad.mit.edu	37	11	119020905	119020905	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:119020905G>A	uc001pvs.2	+	2	566	c.230G>A	c.(229-231)CGC>CAC	p.R77H	ABCG4_uc009zar.2_Missense_Mutation_p.R77H	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	77	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCTGCTGGCGCAAAAGGGGT	0.622		NaN											0	0	0	0.048971	0	48	85									
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:3649787T>C	uc001qmf.2	+	2	458	c.91T>C	c.(91-93)TCC>CCC	p.S31P	PRMT8_uc009zed.2_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	31	SH3-binding 1.				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652		NaN											0	0	0	0.059317	0	21	137									
GALNT8	26290	broad.mit.edu	37	12	4835870	4835870	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:4835870G>T	uc001qne.1	+	2	476	c.384G>T	c.(382-384)TGG>TGT	p.W128C		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	128	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						TCAGGCAATGGGGCGAGGATC	0.517		NaN											1	0	8.58068e-18	0.034045	9.55135e-18	31	33									
KIAA1467	57613	broad.mit.edu	37	12	13208856	13208856	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:13208856A>G	uc001rbi.2	+	2	432	c.409A>G	c.(409-411)AGC>GGC	p.S137G	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	137						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CAGCACCTGGAGCCGCCACTT	0.517		NaN											0	0	0	0.020292	0	8	58									
SOX5	6660	broad.mit.edu	37	12	23793806	23793806	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:23793806G>T	uc001rfw.2	-	8	1059	c.957C>A	c.(955-957)ATC>ATA	p.I319I	SOX5_uc001rfx.2_Silent_p.I306I|SOX5_uc001rfy.2_Silent_p.I306I|SOX5_uc010siv.1_Silent_p.I306I|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.I271I	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	319					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TGGTAGTTGGGATCAGCTGAA	0.473		NaN											1	0	1.00221e-16	0.048971	1.10558e-16	49	74									
DENND5B	160518	broad.mit.edu	37	12	31633168	31633168	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:31633168A>T	uc001rki.1	-	3	445	c.259T>A	c.(259-261)TCT>ACT	p.S87T	DENND5B_uc001rkh.1_Missense_Mutation_p.S122T|DENND5B_uc009zjq.1_Missense_Mutation_p.S6T|DENND5B_uc001rkj.2_Missense_Mutation_p.S109T|DENND5B_uc001rkk.1_Missense_Mutation_p.S9T	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	87	UDENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						GTCCTGAAAGATAGCCCTTTA	0.353		NaN											0	0	0	0.009096	0	3	17									
C12orf35	55196	broad.mit.edu	37	12	32136195	32136195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:32136195C>A	uc001rks.2	+	4	2720	c.2306C>A	c.(2305-2307)TCA>TAA	p.S769*		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	769										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TTAGTTCTGTCAGAGGTCAAA	0.378		NaN											1	0	2.08457e-15	0.045705	2.27913e-15	32	54									
ARID2	196528	broad.mit.edu	37	12	46230707	46230707	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:46230707C>T	uc001ros.1	+	8	956	c.956C>T	c.(955-957)TCT>TTT	p.S319F	ARID2_uc001ror.2_Missense_Mutation_p.S319F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	319					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTATTACTTTCTGCACATAGT	0.378		NaN											0	0	0	0.049695	0	21	58									
FMNL3	91010	broad.mit.edu	37	12	50044617	50044617	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:50044617C>T	uc001ruv.1	-	17	2076	c.1842G>A	c.(1840-1842)GCG>GCA	p.A614A	FMNL3_uc001ruw.1_Silent_p.A563A|FMNL3_uc001rut.1_Silent_p.A180A|FMNL3_uc001ruu.1_Silent_p.A464A	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	614	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						CAGGGCCCTGCGCTTTTGTCT	0.498		NaN											0	0	0	0.045705	0	31	79									
NR4A1	3164	broad.mit.edu	37	12	52449884	52449884	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:52449884G>A	uc001rzs.2	+	4	1261	c.947G>A	c.(946-948)CGA>CAA	p.R316Q	NR4A1_uc010sno.1_Missense_Mutation_p.R329Q|NR4A1_uc001rzt.2_Missense_Mutation_p.R316Q|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	316	NR C4-type.|Nuclear receptor.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AAGAGGCGGCGAAACCGCTGC	0.632		NaN											0	0	0	0.062417	0	22	96									
NAB2	4665	broad.mit.edu	37	12	57485744	57485744	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:57485744C>G	uc001smz.2	+	2	1298	c.920C>G	c.(919-921)TCT>TGT	p.S307C		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	307	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CGTTTCGACTCTAAGCGGCGG	0.567		NaN											0	0	0	0.009096	0	4	97									
TBK1	29110	broad.mit.edu	37	12	64875732	64875732	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:64875732G>A	uc001ssc.1	+	8	985	c.923G>A	c.(922-924)CGA>CAA	p.R308Q		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	308	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		ATACTTCACCGAATGGTAATT	0.348		NaN											0	0	0	0.058154	0	10	27									
VEZT	55591	broad.mit.edu	37	12	95656756	95656756	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:95656756G>T	uc001tdz.2	+	4	438	c.333G>T	c.(331-333)CTG>CTT	p.L111L	VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Silent_p.L63L|VEZT_uc001tdt.2_Silent_p.L63L|VEZT_uc009zsz.1_Silent_p.L111L|VEZT_uc001tdv.2_Silent_p.L80L|VEZT_uc001tdw.1_Silent_p.L63L|VEZT_uc009zta.1_Silent_p.L63L	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	111						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						ATGTGGAGCTGATTGAGCTAC	0.453		NaN											1	0	9.45814e-24	0.074837	1.07221e-23	38	108									
RB1	5925	broad.mit.edu	37	13	49050981	49050981	+	Splice_Site	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:49050981T>C	uc001vcb.2	+	25	2829	c.2663_splice	c.e25+2	p.S888_splice		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATGGAAGGTAGGAACCAGT	0.453		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.108266	0	25	74									
NALCN	259232	broad.mit.edu	37	13	101720314	101720314	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:101720314G>A	uc001vox.1	-	39	4591	c.4402C>T	c.(4402-4404)CGC>TGC	p.R1468C		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1468	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAAGTGGCGAAGATCATTG	0.363		NaN											0	0	0	0.009096	0	4	56									
TPP2	7174	broad.mit.edu	37	13	103249446	103249446	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:103249446G>A	uc001vpi.3	+	1	161	c.58G>A	c.(58-60)GAG>AAG	p.E20K		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	20					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCGAAGAAGGAGACCGGAGC	0.677		NaN											0	0	0	0.069234	0	10	29									
ZNF828	283489	broad.mit.edu	37	13	115089871	115089871	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:115089871C>T	uc010ahb.2	+	3	883	c.554C>T	c.(553-555)CCT>CTT	p.P185L	ZNF828_uc001vuv.2_Missense_Mutation_p.P185L|ZNF828_uc010tko.1_Missense_Mutation_p.P185L	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	185	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)		GTTTCTTCTCCTGAACCTCCA	0.507		NaN											0	0	0	0.11126	0	42	156									
C14orf101	54916	broad.mit.edu	37	14	57052563	57052563	+	Missense_Mutation	SNP	C	C	T	rs144727961	by1000genomes	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:57052563C>T	uc001xcm.2	+	3	399	c.277C>T	c.(277-279)CGC>TGC	p.R93C	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.R93C|C14orf101_uc010aot.1_Missense_Mutation_p.R93C|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	93						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		AATTGCCTACCGCGTCAATCT	0.403		NaN											0	0	0	0.069288	0	21	50									
ALKBH1	8846	broad.mit.edu	37	14	78140190	78140190	+	Missense_Mutation	SNP	C	C	T	rs146924402	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:78140190C>T	uc001xuc.1	-	6	1144	c.1135G>A	c.(1135-1137)GAA>AAA	p.E379K	ALKBH1_uc001xud.1_RNA	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	379					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGTTTTACTTCGCTATTCTGG	0.463		NaN											0	0	0	0.099896	0	27	44									
CDC42BPB	9578	broad.mit.edu	37	14	103426018	103426018	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:103426018T>C	uc001ymi.1	-	21	3083	c.2851A>G	c.(2851-2853)ATT>GTT	p.I951V	CDC42BPB_uc001ymj.1_Missense_Mutation_p.I79V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	951					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TACTCAAAAATGGAATCCTGA	0.333		NaN											0	0	0	0.038395	0	15	4									
HERC2	8924	broad.mit.edu	37	15	28456242	28456242	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:28456242G>A	uc001zbj.2	-	44	7081	c.6975C>T	c.(6973-6975)ATC>ATT	p.I2325I		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2325					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CTGCTTTCAGGATGTATAGCT	0.577		NaN											0	0	0	0.059317	0	30	48									
NARG2	79664	broad.mit.edu	37	15	60740312	60740312	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:60740312C>G	uc002agp.2	-	11	2387	c.2152G>C	c.(2152-2154)GAT>CAT	p.D718H	NARG2_uc002ago.2_Missense_Mutation_p.D581H|NARG2_uc002agq.3_Intron	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	718						nucleus				ovary(1)|lung(1)	2						TCCGATGTATCTTCAACATAG	0.363		NaN											0	0	0	0.043863	0	20	36									
CCDC78	124093	broad.mit.edu	37	16	775574	775574	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:775574G>A	uc002cjg.2	-	4	380	c.274C>T	c.(274-276)CGG>TGG	p.R92W	CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_Missense_Mutation_p.R166W|CCDC78_uc002cjj.3_Intron|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.R92W|CCDC78_uc002cjk.2_Missense_Mutation_p.R92W|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	92	Potential.									central_nervous_system(1)	1		Hepatocellular(780;0.0218)				CTCTCCAGCCGAAGGATCTGT	0.677		NaN											0	0	0	0.09319	0	12	43									
CEMP1	752014	broad.mit.edu	37	16	2580885	2580885	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:2580885C>T	uc002cqr.2	-	1	546	c.190G>A	c.(190-192)GTG>ATG	p.V64M	AMDHD2_uc010uwc.1_3'UTR|AMDHD2_uc010uwd.1_3'UTR	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	64						cytoplasm				skin(1)	1						GGGATACCCACCTCTGCCTTG	0.662		NaN											0	0	0	0.049695	0	17	45									
ZSCAN10	84891	broad.mit.edu	37	16	3139654	3139654	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:3139654G>A	uc002ctv.1	-	5	1704	c.1616C>T	c.(1615-1617)GCC>GTC	p.A539V	ZSCAN10_uc002cty.1_Missense_Mutation_p.A200V|ZSCAN10_uc002ctw.1_Missense_Mutation_p.A457V|ZSCAN10_uc002ctx.1_Missense_Mutation_p.A467V	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	539	C2H2-type 8.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CAGGTGGCGGGCAAGGCTGGC	0.706		NaN											0	0	0	0.014758	0	5	19									
OTOA	146183	broad.mit.edu	37	16	21696662	21696662	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:21696662G>C	uc002djh.2	+	6	380	c.379G>C	c.(379-381)GAA>CAA	p.E127Q	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.E48Q	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	127					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		ATGCCTCTTAGAAGACAAGAA	0.557		NaN											0	0	0	0.014758	0	5	56									
ZKSCAN2	342357	broad.mit.edu	37	16	25258366	25258366	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:25258366C>T	uc002dod.3	-	5	1558	c.1151G>A	c.(1150-1152)TGT>TAT	p.C384Y	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.C180Y|ZKSCAN2_uc002doe.2_Missense_Mutation_p.C384Y	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	384					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		AAGGAAGCCACATTCTCGCAA	0.483		NaN											0	0	0	0.048971	0	94	72									
PYDC1	260434	broad.mit.edu	37	16	31228334	31228334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:31228334C>T	uc002ebo.2	-	1	65	c.16G>A	c.(16-18)GAG>AAG	p.E6K	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	6	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding				0						AGGATGGCCTCGCGCTTCGTT	0.647		NaN											0	0	0	0.02938	0	5	49									
CIRH1A	84916	broad.mit.edu	37	16	69184784	69184784	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:69184784C>G	uc002ews.3	+	8	1075	c.979C>G	c.(979-981)CTC>GTC	p.L327V	CIRH1A_uc002ewr.2_Missense_Mutation_p.L327V|CIRH1A_uc002ewt.3_Missense_Mutation_p.L244V|CIRH1A_uc010cfi.2_Missense_Mutation_p.L244V|CIRH1A_uc010cfj.1_Missense_Mutation_p.L146V	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	327	WD 8.					nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CGATGCCGCTCTCCGAAAAAT	0.522		NaN											0	0	0	0.043863	0	19	51									
HYDIN	54768	broad.mit.edu	37	16	70841650	70841650	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:70841650C>T	uc002ezr.2	-	86	15324	c.15196G>A	c.(15196-15198)GAG>AAG	p.E5066K	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5067										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CGCACAGACTCTCCAGCGCGA	0.512		NaN											0	0	0	0.108266	0	28	91									
PHLPP2	23035	broad.mit.edu	37	16	71682799	71682799	+	Silent	SNP	T	T	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:71682799T>A	uc002fax.2	-	18	3972	c.3966A>T	c.(3964-3966)GCA>GCT	p.A1322A	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.A1255A	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1322						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						GCAGTCATAGTGCTGTGTCGA	0.542		NaN											0	0	0	0.048971	0	52	28									
OR1A1	8383	broad.mit.edu	37	17	3119784	3119784	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:3119784G>A	uc010vrc.1	+	1	870	c.870G>A	c.(868-870)CTG>CTA	p.L290L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TCTACAGTCTGAGAAATCGGG	0.463		NaN											0	0	0	0.080422	0	38	104									
CAMTA2	23125	broad.mit.edu	37	17	4883062	4883062	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:4883062G>A	uc002gah.1	-	9	1663	c.1555C>T	c.(1555-1557)CCA>TCA	p.P519S	CAMTA2_uc010cku.1_Missense_Mutation_p.P542S|CAMTA2_uc002gag.1_Missense_Mutation_p.P518S|CAMTA2_uc002gai.1_Missense_Mutation_p.P521S|CAMTA2_uc010ckv.1_Missense_Mutation_p.P166S|CAMTA2_uc010vsu.1_Missense_Mutation_p.P332S	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	519					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GGGATGCTTGGAGCTTCGTCA	0.557		NaN											0	0	0	0.042209	0	45	109									
TP53	7157	broad.mit.edu	37	17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	rs121912667		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:7577084T>A	uc002gim.2	-	8	1048	c.854A>T	c.(853-855)GAG>GTG	p.E285V	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153V|TP53_uc010cng.1_Missense_Mutation_p.E153V|TP53_uc002gii.1_Missense_Mutation_p.E153V|TP53_uc010cnh.1_Missense_Mutation_p.E285V|TP53_uc010cni.1_Missense_Mutation_p.E285V|TP53_uc002gij.2_Missense_Mutation_p.E285V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	285	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> 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 helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|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|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	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|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|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|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)	22245		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)		ATTCTCTTCCTCTGTGCGCCG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.034045	0	30	36									
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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 helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|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|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	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|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|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|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)	22245		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)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.062417	0	23	31									
RPL26	6154	broad.mit.edu	37	17	8285552	8285552	+	Missense_Mutation	SNP	C	C	T	rs11542516		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:8285552C>T	uc002glh.1	-	2	173	c.77G>A	c.(76-78)CGA>CAA	p.R26Q		NM_000987	NP_000978	P61254	RL26_HUMAN	ribosomal protein L26	26					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						AATCTTCCTTCGAATGTGGGA	0.418		NaN											0	0	0	0.069234	0	11	36									
SUPT6H	6830	broad.mit.edu	37	17	27011886	27011886	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27011886G>T	uc002hby.2	+	19	2484	c.2394G>T	c.(2392-2394)CTG>CTT	p.L798L	SUPT6H_uc010crt.2_Silent_p.L798L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	798					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					TCTGCGCCCTGGTCAATGGTG	0.453		NaN											1	0	7.41877e-09	0.062417	7.90051e-09	21	46									
PROCA1	147011	broad.mit.edu	37	17	27031334	27031334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27031334C>T	uc002hcb.3	-	4	556	c.353G>A	c.(352-354)CGG>CAG	p.R118Q	PROCA1_uc010crv.2_Missense_Mutation_p.R44Q|PROCA1_uc002hca.1_Missense_Mutation_p.R116Q	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	144					lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)					CCAGCCATACCGGAATCGCTC	0.642		NaN											0	0	0	0.048971	0	50	243									
ABHD15	116236	broad.mit.edu	37	17	27893269	27893269	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27893269C>G	uc002hed.1	-	1	780	c.716G>C	c.(715-717)GGC>GCC	p.G239A	TP53I13_uc002hee.2_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	239						extracellular region	carboxylesterase activity				0						CAGCGCCGAGCCCGAGCCTTC	0.697		NaN											0	0	0	0.069234	0	11	46									
PIGW	284098	broad.mit.edu	37	17	34894046	34894046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:34894046C>T	uc002hmy.1	+	2	1139	c.1096C>T	c.(1096-1098)CGA>TGA	p.R366*	MYO19_uc010wcy.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Nonsense_Mutation_p.R366*	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan, class W	366					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCAGTATCTCGAAGAATGGC	0.343		NaN											0	0	0	0.009096	0	4	65									
ERBB2	2064	broad.mit.edu	37	17	37866359	37866359	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:37866359G>T	uc002hso.2	+	6	902	c.664G>T	c.(664-666)GGT>TGT	p.G222C	ERBB2_uc002hsm.2_Missense_Mutation_p.G192C|ERBB2_uc010cwa.2_Missense_Mutation_p.G207C|ERBB2_uc002hsp.2_Missense_Mutation_p.G25C|ERBB2_uc010cwb.2_Missense_Mutation_p.G222C|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.G192C|ERBB2_uc002hsn.1_Missense_Mutation_p.G222C	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	222	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTCTGTGCCGGTGGCTGTGC	0.647		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			1	0	2.96211e-45	0.048971	3.40504e-45	101	47									
KRT38	8687	broad.mit.edu	37	17	39597029	39597029	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:39597029C>T	uc002hwq.1	-	1	568	c.145G>A	c.(145-147)GTG>ATG	p.V49M		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	49	Head.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				GCATGTGCCACGTTGGCCAAA	0.632		NaN											0	0	0	0.069234	0	10	120									
NKIRAS2	28511	broad.mit.edu	37	17	40175690	40175690	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:40175690G>A	uc002hyq.2	+	4	420	c.355G>A	c.(355-357)GGC>AGC	p.G119S	NKIRAS2_uc010wgd.1_Silent_p.L86L|NKIRAS2_uc002hyr.2_Missense_Mutation_p.G119S|NKIRAS2_uc002hys.2_Missense_Mutation_p.G119S|NKIRAS2_uc010wge.1_Missense_Mutation_p.G63S|NKIRAS2_uc002hyt.2_Missense_Mutation_p.G119S	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2 isoform a	119	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			ovary(1)	1		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTGGTCCTTGGCAACAAGTG	0.572		NaN											0	0	0	0.069288	0	18	81									
ITGA2B	3674	broad.mit.edu	37	17	42457993	42457993	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:42457993C>T	uc002igt.1	-	14	1446	c.1414G>A	c.(1414-1416)GGG>AGG	p.G472R	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	472	Extracellular (Potential).|FG-GAP 7.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.G472R(1)		ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TGGTTGGCCCCGTAAGCTCCC	0.597		NaN											0	0	0	0.039052	0	40	59									
SPATA20	64847	broad.mit.edu	37	17	48628894	48628894	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:48628894T>C	uc002irf.2	+	12	1692	c.1551T>C	c.(1549-1551)GCT>GCC	p.A517A	SPATA20_uc002irc.2_Silent_p.A184A|SPATA20_uc002ire.2_Silent_p.A473A|SPATA20_uc002ird.2_Silent_p.A533A|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	517					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CAGGCTATGCTGTGACTGGGG	0.582		NaN											0	0	0	0.09319	0	12	82									
C17orf71	55181	broad.mit.edu	37	17	57289841	57289841	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:57289841C>G	uc002ixi.2	+	2	1941	c.1899C>G	c.(1897-1899)TTC>TTG	p.F633L		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	633					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATTATGACTTCTATCAGGTAG	0.368		NaN											0	0	0	0.014758	0	4	108									
EVPL	2125	broad.mit.edu	37	17	74011020	74011020	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:74011020G>A	uc002jqi.2	-	17	2427	c.2199C>T	c.(2197-2199)GCC>GCT	p.A733A	EVPL_uc010wss.1_Silent_p.A755A|EVPL_uc010wst.1_Silent_p.A203A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	733	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GGTCCCCTACGGCGTGGTAGC	0.542		NaN											0	0	0	0.009096	0	4	67									
CARD14	79092	broad.mit.edu	37	17	78180861	78180861	+	Silent	SNP	C	C	T	rs140536892		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:78180861C>T	uc002jxw.1	+	20	2979	c.2784C>T	c.(2782-2784)AAC>AAT	p.N928N	CARD14_uc002jxt.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	928	Guanylate kinase-like.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCTCTGTCAACGAGAAGATGG	0.612		NaN											0	0	0	0.11126	0	42	27									
NPB	256933	broad.mit.edu	37	17	79860514	79860514	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:79860514G>A	uc002kcd.2	+	2	350	c.268G>A	c.(268-270)GTC>ATC	p.V90I		NM_148896	NP_683694	Q8NG41	NPB_HUMAN	preproneuropeptide B precursor	90					neuropeptide signaling pathway	extracellular region					0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGTCCAGGACGTCGCCCCAAA	0.726		NaN											0	0	0	0.021553	0	6	33									
HEXDC	284004	broad.mit.edu	37	17	80400084	80400084	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:80400084G>A	uc002kew.2	+	12	1336	c.1285G>A	c.(1285-1287)GAG>AAG	p.E429K	HEXDC_uc002kev.3_Silent_p.R458R|HEXDC_uc010diq.2_Missense_Mutation_p.G431E|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	429					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCTCGTGCAGGAGCTGGAGGC	0.642		NaN											0	0	0	0.020292	0	13	57									
AP3D1	8943	broad.mit.edu	37	19	2111719	2111719	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:2111719C>T	uc002luz.2	-	23	2933	c.2710G>A	c.(2710-2712)GAG>AAG	p.E904K	AP3D1_uc010dsv.2_5'Flank|AP3D1_uc002luy.2_Missense_Mutation_p.E863K|AP3D1_uc002lva.2_Missense_Mutation_p.E966K	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	904					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACCGGCTCCCCCGCTGCC	0.498		NaN											0	0	0	0.009096	0	4	8									
XAB2	56949	broad.mit.edu	37	19	7684884	7684884	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:7684884C>T	uc002mgx.2	-	17	2370	c.2344G>A	c.(2344-2346)GAG>AAG	p.E782K		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	782					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						CGCTCCGCCTCAGCCGCCAGC	0.667		NaN						Direct_reversal_of_damage|NER					0	0	0	0.038395	0	16	63									
CLEC4M	10332	broad.mit.edu	37	19	7831632	7831632	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:7831632C>G	uc002mih.2	+	6	924	c.806C>G	c.(805-807)TCC>TGC	p.S269C	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Missense_Mutation_p.S225C|CLEC4M_uc010dvt.2_Missense_Mutation_p.S246C|CLEC4M_uc010dvs.2_Missense_Mutation_p.S268C|CLEC4M_uc010xjx.1_Missense_Mutation_p.S241C|CLEC4M_uc002mhz.2_Missense_Mutation_p.S200C|CLEC4M_uc002mic.2_Missense_Mutation_p.S264C|CLEC4M_uc002mia.2_Missense_Mutation_p.S156C	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	292	Extracellular (Probable).|C-type lectin.				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						TGGCACGACTCCGTCACCGCC	0.597		NaN											0	0	0	0.055883	0	22	102									
DOCK6	57572	broad.mit.edu	37	19	11312572	11312572	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:11312572C>T	uc002mqs.3	-	44	5722	c.5681G>A	c.(5680-5682)CGG>CAG	p.R1894Q	DOCK6_uc002mqr.3_Missense_Mutation_p.R294Q|DOCK6_uc010xlq.1_Missense_Mutation_p.R1233Q	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1894	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CACCTCCTCCCGGTGGCACAC	0.677		NaN											0	0	0	0.009096	0	4	12									
MYO9B	4650	broad.mit.edu	37	19	17295781	17295781	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:17295781C>T	uc010eak.2	+	17	2633	c.2481C>T	c.(2479-2481)ATC>ATT	p.I827I	MYO9B_uc002nfi.2_Silent_p.I827I|MYO9B_uc002nfj.1_Silent_p.I827I	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	827	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CACCAAGCATCAGCGCCCAGT	0.557		NaN											0	0	0	0.080935	0	8	229									
KLHL26	55295	broad.mit.edu	37	19	18779242	18779242	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:18779242G>A	uc002njz.1	+	3	1062	c.1035G>A	c.(1033-1035)ACG>ACA	p.T345T		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	345	Kelch 1.									ovary(1)	1						GCGAGCTCACGGAGATGGAGG	0.682		NaN											0	0	0	0.062417	0	19	17									
ZNF492	57615	broad.mit.edu	37	19	22847804	22847805	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:22847804_22847805GG>TT	uc002nqw.3	+	4	1577_1578	c.1333_1334GG>TT	c.(1333-1335)GGA>TTA	p.G445L		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AATTCATACTGGAGAGAAGCCC	0.376		NaN											0	0	0	0.004672	0	26	47									
ZNF792	126375	broad.mit.edu	37	19	35449114	35449114	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:35449114G>A	uc002nxh.1	-	4	2032	c.1645C>T	c.(1645-1647)CTG>TTG	p.L549L		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	549	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCTGCCTCAGATTGGACCTC	0.527		NaN											0	0	0	0.105934	0	13	37									
CATSPERG	57828	broad.mit.edu	37	19	38845387	38845387	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:38845387G>C	uc002oih.3	+	9	1122	c.1035G>C	c.(1033-1035)AAG>AAC	p.K345N	CATSPERG_uc002oig.3_Missense_Mutation_p.K345N|CATSPERG_uc002oif.3_5'UTR|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	345	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						AGTGCATCAAGAAGCTGTGCC	0.562		NaN											0	0	0	0.058154	0	9	256									
CATSPERG	57828	broad.mit.edu	37	19	38845424	38845424	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:38845424G>C	uc002oih.3	+	9	1159	c.1072G>C	c.(1072-1074)GAG>CAG	p.E358Q	CATSPERG_uc002oig.3_Missense_Mutation_p.E358Q|CATSPERG_uc002oif.3_5'UTR|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	358	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						CAATGGCTCTGAGTACATAAT	0.557		NaN											0	0	0	0.069234	0	11	337									
C19orf54	284325	broad.mit.edu	37	19	41248439	41248439	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:41248439G>A	uc002oou.1	-	6	1075	c.955C>T	c.(955-957)CGG>TGG	p.R319W	C19orf54_uc002oow.1_Missense_Mutation_p.R147W|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	319											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAGTGGCCCGTGAGGGCGAG	0.647		NaN											0	0	0	0.080935	0	12	13									
MEGF8	1954	broad.mit.edu	37	19	42866549	42866549	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:42866549G>A	uc002otl.3	+	33	6292	c.5657G>A	c.(5656-5658)CGC>CAC	p.R1886H	MEGF8_uc002otm.3_Missense_Mutation_p.R1494H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1953	Extracellular (Potential).|PSI 5.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TCCACCCCCCGCTGTAAGTGG	0.607		NaN											0	0	0	0.048971	0	74	95									
IRGC	56269	broad.mit.edu	37	19	44222828	44222828	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:44222828G>A	uc002oxh.2	+	2	265	c.118G>A	c.(118-120)GCC>ACC	p.A40T		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	40						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CCCCCAGGCCGCCTCTCACCT	0.667		NaN											0	0	0	0.02938	0	6	116									
ZFP112	7771	broad.mit.edu	37	19	44832186	44832186	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:44832186G>A	uc010ejj.2	-	5	2255	c.2142C>T	c.(2140-2142)GTC>GTT	p.V714V	ZFP112_uc002ozc.3_Silent_p.V708V|ZFP112_uc010xwy.1_Silent_p.V731V|ZFP112_uc010xwz.1_Silent_p.V713V	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	714	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						CTCCAGAATGGACACTCTGAT	0.463		NaN											0	0	0	0.045705	0	32	104									
GEMIN7	79760	broad.mit.edu	37	19	45593632	45593632	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:45593632G>A	uc002pap.1	+	3	411	c.260G>A	c.(259-261)CGT>CAT	p.R87H	uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.R87H|GEMIN7_uc002par.1_Missense_Mutation_p.R87H	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN	gemin 7	87					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GAGGGTGTGCGTGTGGCCGCC	0.642		NaN											0	0	0	0.0333	0	17	59									
SAE1	10055	broad.mit.edu	37	19	47646784	47646784	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:47646784G>A	uc002pgc.2	+	2	188	c.132G>A	c.(130-132)TTG>TTA	p.L44L	SAE1_uc002pgd.2_Silent_p.L44L|SAE1_uc010ekx.2_Silent_p.L44L|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_5'UTR|SAE1_uc002pge.2_5'UTR	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	44					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTGTCGGCTTGAAAGGACTTG	0.488		NaN											0	0	0	0.024245	0	15	92									
GRIN2D	2906	broad.mit.edu	37	19	48919345	48919345	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:48919345C>T	uc002pjc.3	+	7	1756	c.1668C>T	c.(1666-1668)TTC>TTT	p.F556F		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	556	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCGTCCCCTTCGTGGAGACCG	0.667		NaN											0	0	0	0.0333	0	17	93									
NR1H2	7376	broad.mit.edu	37	19	50881790	50881790	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:50881790G>A	uc010enw.2	+	6	760	c.484G>A	c.(484-486)GAA>AAA	p.E162K	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.E162K|NR1H2_uc002psa.3_Missense_Mutation_p.E65K	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	162					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CGTCCTTTCTGAAGAACAGAT	0.647		NaN											0	0	0	0.062417	0	21	98									
CD33	945	broad.mit.edu	37	19	51742831	51742831	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:51742831C>T	uc002pwa.2	+	7	1023	c.983C>T	c.(982-984)GCC>GTC	p.A328V	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.A201V|CD33_uc010eou.1_RNA	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	328	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGTTCAGGTGCCGCCCCTACT	0.517		NaN											0	0	0	0.09319	0	11	31									
ZNF468	90333	broad.mit.edu	37	19	53344325	53344325	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:53344325C>T	uc002qaf.2	-	4	1373	c.1222G>A	c.(1222-1224)GAG>AAG	p.E408K	ZNF468_uc002qae.2_Missense_Mutation_p.E355K	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		TAAGGTTTCTCTCCACTATGA	0.388		NaN											0	0	0	0.034045	0	29	110									
NLRP12	91662	broad.mit.edu	37	19	54314478	54314478	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:54314478C>A	uc002qch.3	-	3	655	c.435G>T	c.(433-435)GCG>GCT	p.A145A	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.A145A|NLRP12_uc002qcj.3_Silent_p.A145A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.A145A	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	145					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCCTAGGCGCGCATTGCGGT	0.567		NaN											1	0	3.69857e-22	0.037714	4.15455e-22	26	138									
NLRP7	199713	broad.mit.edu	37	19	55451478	55451478	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:55451478C>T	uc002qih.3	-	4	785	c.709G>A	c.(709-711)GAC>AAC	p.D237N	NLRP7_uc002qig.3_Missense_Mutation_p.D237N|NLRP7_uc002qii.3_Missense_Mutation_p.D237N|NLRP7_uc010esk.2_Missense_Mutation_p.D237N|NLRP7_uc010esl.2_Missense_Mutation_p.D265N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	237	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CTTGGAATGTCATCCTGCAAT	0.557		NaN											0	0	0	0.069456	0	35	127									
ZNF548	147694	broad.mit.edu	37	19	57910071	57910071	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:57910071C>T	uc002qom.2	+	3	666	c.416C>T	c.(415-417)TCA>TTA	p.S139L	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.S142L	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGATACCTTCATTTGGGAAG	0.478		NaN											0	0	0	0.062417	0	22	99									
MYT1L	23040	broad.mit.edu	37	2	1983318	1983319	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:1983318_1983319CC>AT	uc002qxe.2	-	7	890_891	c.63_64GG>AT	c.(61-66)GTGGAA>GTATAA	p.E22*	MYT1L_uc002qxd.2_Nonsense_Mutation_p.E22*	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	22					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATGGCTGGTTCCACGGGAACTG	0.45		NaN											0	0	0	0.004672	0	18	43									
CD207	50489	broad.mit.edu	37	2	71060168	71060168	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:71060168C>T	uc002shg.2	-	4	627	c.580G>A	c.(580-582)GTG>ATG	p.V194M		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	194	Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						TGAGAAACCACCTGTAGAATA	0.453		NaN											0	0	0	0.099896	0	27	18									
DCTN1	1639	broad.mit.edu	37	2	74598210	74598210	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74598210C>T	uc002skx.2	-	9	1050	c.739G>A	c.(739-741)GAG>AAG	p.E247K	DCTN1_uc002skv.2_Missense_Mutation_p.E113K|DCTN1_uc002sku.2_Missense_Mutation_p.E113K|DCTN1_uc002skw.1_Missense_Mutation_p.E223K|DCTN1_uc010ffd.2_Missense_Mutation_p.E227K|DCTN1_uc002sky.2_Missense_Mutation_p.E210K	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	247	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TTCTCCAGCTCTTTTAGCTTT	0.562		NaN											0	0	0	0.105934	0	14	397									
AUP1	550	broad.mit.edu	37	2	74756363	74756363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74756363G>A	uc010yry.1	-	3	453	c.235C>T	c.(235-237)CAG>TAG	p.Q79*	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Nonsense_Mutation_p.Q79*|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Nonsense_Mutation_p.Q136*|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1;	79	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						GAGTCCTCCTGCCGGGCCACG	0.587		NaN											0	0	0	0.038147	0	8	26									
HTRA2	27429	broad.mit.edu	37	2	74757942	74757942	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74757942G>C	uc002smi.1	+	2	1307	c.705G>C	c.(703-705)CAG>CAC	p.Q235H	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.Q235H|HTRA2_uc002smk.1_Missense_Mutation_p.Q235H|HTRA2_uc002sml.1_Missense_Mutation_p.Q235H|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	235	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						TGAGGATTCAGACTAAGGTGG	0.572		NaN											0	0	0	0.092188	0	43	123									
FER1L5	90342	broad.mit.edu	37	2	97368447	97368447	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:97368447C>T	uc010fia.2	+	47	5474	c.5474C>T	c.(5473-5475)GCG>GTG	p.A1825V	FER1L5_uc002sws.3_Missense_Mutation_p.A534V|FER1L5_uc002swt.3_Missense_Mutation_p.A534V|FER1L5_uc010yus.1_Missense_Mutation_p.A533V	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1825	C2 6.					integral to membrane				ovary(1)	1						GACTACCTGGCGGCGGAGCGC	0.612		NaN											0	0	0	0.038147	0	8	23									
C2orf55	343990	broad.mit.edu	37	2	99463239	99463239	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:99463239T>C	uc002szf.1	-	2	319	c.25A>G	c.(25-27)ATT>GTT	p.I9V		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	9											0						CGAAGCTTAATGTCCATCACC	0.502		NaN											0	0	0	0.048971	0	57	65									
IL1F10	84639	broad.mit.edu	37	2	113832410	113832410	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:113832410C>A	uc002tiu.2	+	4	304	c.229C>A	c.(229-231)CCT>ACT	p.P77T	IL1F10_uc002tiv.2_Missense_Mutation_p.P77T|IL1F10_uc002tiw.2_Missense_Mutation_p.P69T	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10	77						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)	1						AGAAGAGGGGCCTTCCCTACA	0.602		NaN											1	0	2.27111e-07	0.09319	2.38758e-07	13	41									
NCKAP5	344148	broad.mit.edu	37	2	133542251	133542251	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:133542251C>A	uc002ttp.2	-	14	2507	c.2133G>T	c.(2131-2133)GAG>GAT	p.E711D	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	711							protein binding				0						GAGGTAAAAGCTCAGTATGTT	0.433		NaN											1	0	1.16021e-09	0.034045	1.24634e-09	30	111									
GRB14	2888	broad.mit.edu	37	2	165350941	165350941	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:165350941T>C	uc002ucl.2	-	13	2017	c.1476A>G	c.(1474-1476)CCA>CCG	p.P492P	GRB14_uc010zcv.1_Silent_p.P405P|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	492	SH2.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						AATTACTTACTGGTATAATTT	0.323		NaN											0	0	0	0.059317	0	33	38									
SCN9A	6335	broad.mit.edu	37	2	167108339	167108339	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:167108339T>C	uc010fpl.2	-	18	3716	c.3375A>G	c.(3373-3375)GGA>GGG	p.G1125G	uc002udp.2_RNA	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1136						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTTCTCCTTCTCCAGGCAAAG	0.458		NaN											0	0	0	0.09319	0	11	46									
TTN	7273	broad.mit.edu	37	2	179425858	179425858	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:179425858T>C	uc010zfg.1	-	275	77521	c.77297A>G	c.(77296-77298)GAC>GGC	p.D25766G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D19461G|TTN_uc010zfi.1_Missense_Mutation_p.D19394G|TTN_uc010zfj.1_Missense_Mutation_p.D19269G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26693							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			ACTAACTGAGTCAGCAGCATT	0.383		NaN											0	0	0	0.045705	0	31	127									
TTN	7273	broad.mit.edu	37	2	179634499	179634499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:179634499G>A	uc010zfg.1	-	37	9033	c.8809C>T	c.(8809-8811)CAG>TAG	p.Q2937*	TTN_uc010zfh.1_Nonsense_Mutation_p.Q2891*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q2891*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q2891*|TTN_uc002unb.2_Nonsense_Mutation_p.Q2937*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2937							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			ATGATCAGCTGATGGAGTTTT	0.473		NaN											0	0	0	0.048971	0	50	182									
INO80D	54891	broad.mit.edu	37	2	206872144	206872144	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:206872144C>T	uc002vaz.3	-	10	2187	c.1782G>A	c.(1780-1782)CTG>CTA	p.L594L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	594					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						CATCAGCACTCAGCTCTGGCG	0.498		NaN											0	0	0	0.058154	0	8	165									
ZDBF2	57683	broad.mit.edu	37	2	207170653	207170653	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:207170653G>A	uc002vbp.2	+	5	1651	c.1401G>A	c.(1399-1401)ATG>ATA	p.M467I		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	467							nucleic acid binding|zinc ion binding			ovary(3)	3						AATCCCAAATGATTGTTAAAG	0.323		NaN											0	0	0	0.069234	0	11	19									
FASTKD2	22868	broad.mit.edu	37	2	207636741	207636741	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:207636741G>T	uc002vbu.2	+	5	1524	c.1114G>T	c.(1114-1116)GAT>TAT	p.D372Y	FASTKD2_uc002vbv.2_Missense_Mutation_p.D372Y|FASTKD2_uc002vbx.2_Missense_Mutation_p.D372Y|FASTKD2_uc002vbw.1_Missense_Mutation_p.D372Y	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	372					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|skin(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GGTGGTCCTAGGTAAGAGGAA	0.333		NaN											1	0	0.000157383	0.038147	0.000162673	8	141									
CHRND	1144	broad.mit.edu	37	2	233391291	233391291	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:233391291G>C	uc002vsw.2	+	2	109	c.105G>C	c.(103-105)GAG>GAC	p.E35D	CHRND_uc010zmg.1_Missense_Mutation_p.E35D|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	35	Extracellular (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TGTTTCAAGAGAAGGGCTACA	0.632		NaN											0	0	0	0.021553	0	6	43									
TRPM8	79054	broad.mit.edu	37	2	234878872	234878872	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:234878872G>A	uc002vvh.2	+	17	2197	c.2157G>A	c.(2155-2157)AAG>AAA	p.K719K	TRPM8_uc010fyj.2_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	719	Extracellular (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGTCGACAAGCACAAGAAGC	0.532		NaN											0	0	0	0.02938	0	6	95									
XRN2	22803	broad.mit.edu	37	20	21309203	21309203	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:21309203C>T	uc002wsf.1	+	4	417	c.322C>T	c.(322-324)CGT>TGT	p.R108C	XRN2_uc002wsg.1_Missense_Mutation_p.R32C|XRN2_uc010zsk.1_Missense_Mutation_p.R54C	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	108					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						TCAGGCACCACGTGCTAAAAT	0.388		NaN											0	0	0	0.038147	0	8	27									
SERINC3	10955	broad.mit.edu	37	20	43138622	43138622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:43138622G>A	uc002xme.2	-	5	657	c.523C>T	c.(523-525)CAG>TAG	p.Q175*	SERINC3_uc002xmf.1_Nonsense_Mutation_p.Q175*|SERINC3_uc010ggs.1_Nonsense_Mutation_p.Q168*|SERINC3_uc010zwp.1_Nonsense_Mutation_p.Q120*	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	175	Helical; (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGCACCAGCTGAATGAGGATG	0.433		NaN											0	0	0	0.020292	0	15	664									
CD40	958	broad.mit.edu	37	20	44756829	44756829	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:44756829C>A	uc002xrg.1	+	7	689	c.612C>A	c.(610-612)ATC>ATA	p.I204I	CD40_uc002xrh.1_Missense_Mutation_p.P184T|CD40_uc002xri.1_Missense_Mutation_p.P218T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	204	Helical; (Potential).				B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TCTTCGGGATCCTGTTTGCCA	0.572		NaN							Immune_Deficiency_with_Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	9.16793e-09	0.0333	9.72117e-09	17	85									
COL20A1	57642	broad.mit.edu	37	20	61943386	61943386	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:61943386C>T	uc011aau.1	+	14	1882	c.1782C>T	c.(1780-1782)AGC>AGT	p.S594S	COL20A1_uc011aav.1_Silent_p.S415S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	594	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					ATGTGTCCAGCGAGGGTGGAC	0.677		NaN											0	0	0	0.069234	0	11	28									
GABPA	2551	broad.mit.edu	37	21	27141436	27141436	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr21:27141436G>A	uc002ylx.3	+	10	1785	c.1258G>A	c.(1258-1260)GAA>AAA	p.E420K	GABPA_uc002yly.3_Missense_Mutation_p.E420K	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	420					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						TTTGGTCACAGAATGTGAACA	0.448		NaN											0	0	0	0.086207	0	38	102									
C2CD2	25966	broad.mit.edu	37	21	43321769	43321769	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr21:43321769G>A	uc002yzw.2	-	12	1764	c.1522C>T	c.(1522-1524)CGG>TGG	p.R508W	C2CD2_uc002yzs.2_Translation_Start_Site|C2CD2_uc002yzt.2_Missense_Mutation_p.R124W|C2CD2_uc002yzu.2_Missense_Mutation_p.R340W|C2CD2_uc002yzv.2_Missense_Mutation_p.R353W|C2CD2_uc002yzx.1_Missense_Mutation_p.R353W	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	508						cytosol|extracellular region|nucleus				ovary(1)	1						CTTTTCTTCCGTGGCGACTTG	0.498		NaN											0	0	0	0.0918	0	22	56									
OSM	5008	broad.mit.edu	37	22	30659956	30659956	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr22:30659956G>A	uc003ahb.2	-	3	727	c.675C>T	c.(673-675)CAC>CAT	p.H225H		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	225					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			TCAGGGCCTGGTGGGGGCTGT	0.657		NaN											0	0	0	0.038147	0	7	216									
C22orf24	25775	broad.mit.edu	37	22	32330184	32330184	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr22:32330184G>A	uc003aly.2	-	3	570	c.403C>T	c.(403-405)CTG>TTG	p.L135L	C22orf24_uc003alx.2_RNA	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	hypothetical protein LOC25775	135						integral to membrane				central_nervous_system(1)	1						GGCTCCCTCAGGGCCTGGTGG	0.373		NaN											0	0	0	0.038395	0	17	4									
GRM7	2917	broad.mit.edu	37	3	6903549	6903549	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:6903549G>A	uc003bqm.2	+	1	748	c.474G>A	c.(472-474)GGG>GGA	p.G158G	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G158G|GRM7_uc003bql.2_Silent_p.G158G	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	158	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GGGCTTCGGGGAGTTCGGTCT	0.612		NaN											0	0	0	0.038395	0	17	82									
RARB	5915	broad.mit.edu	37	3	25637964	25637964	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:25637964C>G	uc011awl.1	+	8	1291	c.1225C>G	c.(1225-1227)CTC>GTC	p.L409V	RARB_uc003cdi.1_Missense_Mutation_p.L290V|RARB_uc003cdh.2_Missense_Mutation_p.L402V	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	409	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATGCCACCTCTCATTCAAGA	0.433		NaN											0	0	0	0.11126	0	41	137									
ZCWPW2	152098	broad.mit.edu	37	3	28562491	28562491	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:28562491G>A	uc003ceh.2	+	9	961	c.793G>A	c.(793-795)GAG>AAG	p.E265K	ZCWPW2_uc003cei.2_Missense_Mutation_p.E265K|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E70K	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	265							zinc ion binding			ovary(2)	2						AGTTGTCTGTGAGACGGAAGT	0.373		NaN											0	0	0	0.080935	0	12	40									
ZNF445	353274	broad.mit.edu	37	3	44491019	44491019	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:44491019A>G	uc003cnf.2	-	7	1265	c.917T>C	c.(916-918)GTT>GCT	p.V306A	ZNF445_uc011azv.1_Missense_Mutation_p.V294A|ZNF445_uc011azw.1_Missense_Mutation_p.V306A	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	306					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGAGCAGCAACTGGATTCCC	0.522		NaN											0	0	0	0.030593	0	29	41									
ZNF660	285349	broad.mit.edu	37	3	44636003	44636003	+	Nonsense_Mutation	SNP	T	T	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:44636003T>G	uc003cnl.1	+	3	651	c.318T>G	c.(316-318)TAT>TAG	p.Y106*		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	106	C2H2-type 3.				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)		TGAAGCCCTATACATGCAGTG	0.443		NaN											0	0	0	0.009096	0	4	110									
PROS1	5627	broad.mit.edu	37	3	93611935	93611935	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:93611935C>T	uc003drb.3	-	10	1338	c.997G>A	c.(997-999)GAT>AAT	p.D333N	PROS1_uc010hoo.2_Missense_Mutation_p.D202N|PROS1_uc003dqz.3_Missense_Mutation_p.D202N	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	333	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTTCTGAATCATATGTCCGG	0.383		NaN											0	0	0	0.014758	0	5	34									
ZIC1	7545	broad.mit.edu	37	3	147128662	147128662	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:147128662C>A	uc003ewe.2	+	1	1482	c.763C>A	c.(763-765)CAC>AAC	p.H255N		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	255	C2H2-type 1; atypical.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCTAGTTACGCACGTCACCGT	0.557		NaN											1	0	1.08241e-25	0.048971	1.23274e-25	67	107									
SHOX2	6474	broad.mit.edu	37	3	157815938	157815938	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:157815938C>T	uc003fbr.2	-	5	1013	c.874G>A	c.(874-876)GAT>AAT	p.D292N	SHOX2_uc003fbs.2_Missense_Mutation_p.D316N|SHOX2_uc010hvw.2_Missense_Mutation_p.D280N	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	292					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAAGCCGAATCCGCGGCCAGC	0.672		NaN											0	0	0	0.048971	0	70	428									
ATP13A4	84239	broad.mit.edu	37	3	193166040	193166040	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:193166040A>C	uc003ftd.2	-	18	2215	c.2107T>G	c.(2107-2109)TTG>GTG	p.L703V	ATP13A4_uc003fte.1_Missense_Mutation_p.L703V|ATP13A4_uc011bsr.1_Missense_Mutation_p.L174V|ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	703	Extracellular (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(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGCTCTTCCAAGACAGGTTTT	0.398		NaN											0	0	0	0.0333	0	15	72									
GRXCR1	389207	broad.mit.edu	37	4	42895368	42895368	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:42895368C>T	uc003gwt.2	+	1	85	c.85C>T	c.(85-87)CTG>TTG	p.L29L		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	29					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						TGGGCGAGTTCTGAAGGAAGT	0.522		NaN											0	0	0	0.059317	0	37	74									
WDFY3	23001	broad.mit.edu	37	4	85634393	85634393	+	Splice_Site	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:85634393C>T	uc003hpd.2	-	51	8370	c.7962_splice	c.e51-1	p.R2654_splice	WDFY3_uc003hpe.1_Splice_Site_p.R265_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGCCAAAAACCTGAAAAATTT	0.423		NaN											0	0	0	0.034045	0	30	99									
FAT4	79633	broad.mit.edu	37	4	126370861	126370861	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:126370861C>G	uc003ifj.3	+	9	8690	c.8690C>G	c.(8689-8691)ACA>AGA	p.T2897R	FAT4_uc011cgp.1_Missense_Mutation_p.T1195R|FAT4_uc003ifi.1_Missense_Mutation_p.T375R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2897	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTATTTGCAACAGATCCTGAT	0.363		NaN											0	0	0	0.014758	0	5	89									
DCLK2	166614	broad.mit.edu	37	4	151168844	151168844	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:151168844C>T	uc003ilm.3	+	13	1968	c.1868C>T	c.(1867-1869)TCT>TTT	p.S623F	DCLK2_uc003iln.3_Missense_Mutation_p.S622F|DCLK2_uc003ilo.3_Missense_Mutation_p.S640F|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	623	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					ATCACGGACTCTGCCAAGGTA	0.542		NaN											0	0	0	0.058154	0	9	14									
PRSS48	345062	broad.mit.edu	37	4	152203350	152203350	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:152203350G>A	uc011cif.1	+	3	266	c.266G>A	c.(265-267)GGT>GAT	p.G89D	PRSS48_uc011cig.1_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						ATTACAGTAGGTGACTCAAGG	0.478		NaN											0	0	0	0.105934	0	13	168									
SC4MOL	6307	broad.mit.edu	37	4	166254772	166254772	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:166254772C>G	uc003ire.2	+	2	380	c.250C>G	c.(250-252)CAA>GAA	p.Q84E	SC4MOL_uc010irb.2_Missense_Mutation_p.Q84E|SC4MOL_uc003irf.2_Intron	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	84					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	ATACAAAATTCAAAAGGTGAG	0.279		NaN											0	0	0	0.038147	0	8	11									
SC4MOL	6307	broad.mit.edu	37	4	166263045	166263045	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:166263045C>A	uc003ire.2	+	6	959	c.829C>A	c.(829-831)CAG>AAG	p.Q277K	SC4MOL_uc003irf.2_Missense_Mutation_p.Q146K	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	277					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	AACAGACTCTCAGTATAATGC	0.363		NaN											1	0	6.31663e-08	0.024245	6.66906e-08	15	17									
KIAA1430	57587	broad.mit.edu	37	4	186112120	186112120	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:186112120T>C	uc003ixf.3	-	2	378	c.231A>G	c.(229-231)CCA>CCG	p.P77P	KIAA1430_uc003ixg.2_Silent_p.P77P	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	77											0		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGGGGTGTTCTGGGGGAAATT	0.348		NaN											0	0	0	0.02938	0	7	13									
IL7R	3575	broad.mit.edu	37	5	35874558	35874558	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:35874558G>A	uc003jjs.2	+	6	803	c.714G>A	c.(712-714)ATG>ATA	p.M238I	IL7R_uc011coo.1_Intron|IL7R_uc011cop.1_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	238	Extracellular (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAGGGGAGATGGATCCTATCT	0.448		NaN											0	0	0	0.034045	0	30	98									
NUP155	9631	broad.mit.edu	37	5	37371058	37371058	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:37371058C>T	uc003jku.1	-	1	140	c.22G>A	c.(22-24)GCG>ACG	p.A8T	NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Missense_Mutation_p.A8T	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	8					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCATCGCCGCGCCCAACAAA	0.527		NaN											0	0	0	0.020292	0	15	106									
GHR	2690	broad.mit.edu	37	5	42689121	42689121	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:42689121G>T	uc003jmt.2	+	4	309	c.266G>T	c.(265-267)AGG>ATG	p.R89M	GHR_uc011cpq.1_Intron	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	89	Extracellular (Potential).		R -> K (in LARS).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TATACCAGAAGGTGCCACCAT	0.453		NaN											1	0	6.49762e-13	0.038395	7.07263e-13	19	111									
ZNF608	57507	broad.mit.edu	37	5	123977030	123977030	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:123977030G>T	uc003ktq.1	-	7	4488	c.4365C>A	c.(4363-4365)TTC>TTA	p.F1455L	ZNF608_uc003ktr.1_Intron|ZNF608_uc003ktp.1_Missense_Mutation_p.F150L	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1455						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCGCTGGCCGAAGGGGGAGT	0.567		NaN											1	0	1.15505e-17	0.11126	1.27992e-17	46	51									
PHF15	23338	broad.mit.edu	37	5	133909338	133909338	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:133909338A>G	uc003kzo.1	+	10	1617	c.1438A>G	c.(1438-1440)AGA>GGA	p.R480G	PHF15_uc011cxt.1_Missense_Mutation_p.R480G|PHF15_uc003kzk.2_Missense_Mutation_p.R496G|PHF15_uc003kzl.2_Missense_Mutation_p.R480G|PHF15_uc003kzm.2_Missense_Mutation_p.R480G|PHF15_uc003kzn.2_Intron|PHF15_uc003kzp.2_Missense_Mutation_p.R188G	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	480					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCAGGTTAGAAATCTGTG	0.512		NaN											0	0	0	0.059317	0	36	12									
PCDHA9	9752	broad.mit.edu	37	5	140229572	140229572	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:140229572C>T	uc003lhu.2	+	1	2216	c.1492C>T	c.(1492-1494)CGG>TGG	p.R498W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R498W	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	498	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGCGGCGGTTGGGCGA	0.672		NaN											0	0	0	0.048971	0	72	77									
GLRA1	2741	broad.mit.edu	37	5	151202511	151202511	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:151202511C>G	uc003lut.2	-	9	1384	c.1097G>C	c.(1096-1098)GGA>GCA	p.G366A	GLRA1_uc003lur.2_Missense_Mutation_p.G358A|GLRA1_uc003lus.2_Missense_Mutation_p.G275A	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	366	Cytoplasmic (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCGGCCTTCTCCAGCTTCATC	0.562		NaN											0	0	0	0.080935	0	11	16									
C5orf41	153222	broad.mit.edu	37	5	172517872	172517872	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:172517872A>G	uc003mch.2	+	4	994	c.690A>G	c.(688-690)GAA>GAG	p.E230E	C5orf41_uc003mcg.2_Silent_p.E230E|C5orf41_uc003mcf.2_Silent_p.E230E|C5orf41_uc011dfd.1_Silent_p.E230E	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	230							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCATGTTGAATGTAAAGACT	0.413		NaN											0	0	0	0.034045	0	31	13									
SLC22A23	63027	broad.mit.edu	37	6	3273582	3273582	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:3273582C>T	uc003mvm.3	-	10	1768	c.1768G>A	c.(1768-1770)GAG>AAG	p.E590K	uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.E309K|SLC22A23_uc003mvo.3_Missense_Mutation_p.E309K|SLC22A23_uc003mvp.1_RNA	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	590					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ttgtgcagctcgatGATGGGT	0.478		NaN											0	0	0	0.021553	0	6	112									
C6orf106	64771	broad.mit.edu	37	6	34574587	34574587	+	Silent	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:34574587C>G	uc003ojr.2	-	4	851	c.606G>C	c.(604-606)CCG>CCC	p.P202P	C6orf106_uc003ojs.2_Silent_p.P136P	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106 isoform a	202										skin(2)|ovary(1)	3						CCTTACGATGCGGCTGTGTGT	0.478		NaN											0	0	0	0.009096	0	4	77									
ETV7	51513	broad.mit.edu	37	6	36334426	36334426	+	Missense_Mutation	SNP	G	G	A	rs145392208	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:36334426G>A	uc003omb.2	-	8	1171	c.1022C>T	c.(1021-1023)CCG>CTG	p.P341L	ETV7_uc003olz.1_Intron|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Missense_Mutation_p.P286L|ETV7_uc010jwj.2_Missense_Mutation_p.P282L|ETV7_uc010jwh.2_Missense_Mutation_p.P260L|ETV7_uc010jwi.2_Missense_Mutation_p.P264L|ETV7_uc011dtl.1_Missense_Mutation_p.P190L	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	341					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						TGCCCCTCACGGAGAGATTTC	0.622		NaN											0	0	0	0.069456	0	36	97									
DNAH8	1769	broad.mit.edu	37	6	38723820	38723820	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:38723820A>G	uc003ooe.1	+	8	1429	c.829A>G	c.(829-831)AAT>GAT	p.N277D		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAGGTATTATAATACCTCAGA	0.348		NaN											0	0	0	0.055883	0	18	44									
LAMA2	3908	broad.mit.edu	37	6	129649559	129649559	+	Splice_Site	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:129649559T>C	uc003qbn.2	+	29	4416	c.4311_splice	c.e29+2	p.Q1437_splice	LAMA2_uc003qbo.2_Splice_Site_p.Q1437_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATGCCAGGTAGTCCTCTGA	0.532		NaN											0	0	0	0.014758	0	4	67									
NMBR	4829	broad.mit.edu	37	6	142409489	142409489	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:142409489G>A	uc003qiu.2	-	1	448	c.307C>T	c.(307-309)CGC>TGC	p.R103C		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	103	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAGAAGTAGCGCGAGGCGTCC	0.602		NaN											0	0	0	0.048971	0	75	13									
SYNE1	23345	broad.mit.edu	37	6	152651705	152651705	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:152651705G>A	uc010kiw.2	-	78	14717	c.14115C>T	c.(14113-14115)GCC>GCT	p.A4705A	SYNE1_uc003qot.3_Silent_p.A4634A|SYNE1_uc003qou.3_Silent_p.A4705A|SYNE1_uc010kiz.2_Silent_p.A460A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4705	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)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCCTCAACGGCCAGGTCGG	0.522		NaN								HNSCC(10;0.0054)			0	0	0	0.076483	0	22	7									
EVX1	2128	broad.mit.edu	37	7	27285924	27285924	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:27285924G>A	uc003szd.1	+	3	1590	c.1104G>A	c.(1102-1104)TCG>TCA	p.S368S	EVX1_uc011jzn.1_Silent_p.S186S|EVX1_uc010kuy.1_3'UTR	NM_001989	NP_001980	P49640	EVX1_HUMAN	even-skipped homeobox 1	368	Ala-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						CCGCCGCCTCGGACTTCACCT	0.751		NaN											0	0	0	0.058154	0	8	5									
AVL9	23080	broad.mit.edu	37	7	32598622	32598622	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:32598622G>C	uc003tcv.1	+	10	907	c.761G>C	c.(760-762)AGT>ACT	p.S254T	AVL9_uc011kai.1_Missense_Mutation_p.S254T|AVL9_uc010kwj.1_Missense_Mutation_p.S95T	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	254						integral to membrane					0						CTTCAGGAAAGTAACCCATGT	0.423		NaN											0	0	0	0.0333	0	18	46									
POU6F2	11281	broad.mit.edu	37	7	39379526	39379526	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:39379526C>T	uc003thb.1	+	5	839	c.797C>T	c.(796-798)ACC>ATC	p.T266I	POU6F2_uc010kxo.2_Missense_Mutation_p.T258I	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	266	Pro-rich.|Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						ccatctccaacccagcagagc	0.244		NaN											0	0	0	0.062417	0	23	45									
ABHD11	83451	broad.mit.edu	37	7	73153094	73153094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:73153094G>A	uc003tzb.2	-	1	91	c.34C>T	c.(34-36)CGC>TGC	p.R12C	RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Missense_Mutation_p.R12C|ABHD11_uc003tzc.2_Missense_Mutation_p.R12C|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Missense_Mutation_p.R12C|ABHD11_uc011kfc.1_Missense_Mutation_p.R12C	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11 isoform 1	12							hydrolase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGGGTCCAGCGGAGCATGCTT	0.532		NaN											0	0	0	0.038147	0	8	26									
CALCR	799	broad.mit.edu	37	7	93055890	93055890	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:93055890G>A	uc003umv.1	-	15	1566	c.1305C>T	c.(1303-1305)ACC>ACT	p.T435T	CALCR_uc011kia.1_Silent_p.T215T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.T401T|CALCR_uc003umw.2_Silent_p.T401T	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	417	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(3)|skin(2)|pancreas(1)	9	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)	GGCGCTTCACGGTGGTTTGGA	0.522		NaN											0	0	0	0.064281	0	36	38									
DYNC1I1	1780	broad.mit.edu	37	7	95442532	95442532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:95442532G>A	uc003uoc.3	+	4	525	c.248G>A	c.(247-249)TGG>TAG	p.W83*	DYNC1I1_uc003uod.3_Intron|DYNC1I1_uc003uob.2_Intron|DYNC1I1_uc003uoe.3_Nonsense_Mutation_p.W83*|DYNC1I1_uc010lfl.2_Intron	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	83	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTTTTAACATGGGATACCTGT	0.458		NaN											0	0	0	0.048971	0	46	35									
PILRA	29992	broad.mit.edu	37	7	99997420	99997420	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:99997420G>A	uc003uuo.1	+	7	1014	c.802G>A	c.(802-804)GTC>ATC	p.V268I	PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Missense_Mutation_p.V195I|PILRA_uc003uuq.1_3'UTR	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	268	Cytoplasmic (Potential).|ITIM motif 1.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACGGCATCGTCTATGCTTC	0.587		NaN											0	0	0	0.080422	0	40	139									
TRIM56	81844	broad.mit.edu	37	7	100731304	100731304	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:100731304G>A	uc003uxq.2	+	3	942	c.711G>A	c.(709-711)GAG>GAA	p.E237E	TRIM56_uc003uxr.2_Silent_p.E237E	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	237	Potential.				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAGGGTGGAGAAGGAGGCGC	0.726		NaN											0	0	0	0.004672	0	3	9									
DLD	1738	broad.mit.edu	37	7	107546721	107546721	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:107546721G>A	uc003vet.2	+	8	702	c.592G>A	c.(592-594)GAT>AAT	p.D198N	DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Missense_Mutation_p.D150N|DLD_uc011kmh.1_Missense_Mutation_p.D175N|DLD_uc011kmi.1_Missense_Mutation_p.D99N	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	198					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	GATAGATGAAGATACAATAGT	0.234		NaN											0	0	0	0.047766	0	8	25									
ZYX	7791	broad.mit.edu	37	7	143085644	143085644	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:143085644C>G	uc003wcw.2	+	7	1362	c.1207C>G	c.(1207-1209)CAG>GAG	p.Q403E	ZYX_uc011ktd.1_Missense_Mutation_p.Q246E|ZYX_uc003wcx.2_Missense_Mutation_p.Q403E|ZYX_uc011kte.1_Missense_Mutation_p.Q372E|ZYX_uc011ktf.1_Missense_Mutation_p.Q246E	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	403	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CGCTCTAGGGCAGCTGTTCCA	0.642		NaN											0	0	0	0.030593	0	26	84									
SSPO	23145	broad.mit.edu	37	7	149512268	149512268	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:149512268G>A	uc010lpk.2	+	76	10588	c.10588G>A	c.(10588-10590)GGG>AGG	p.G3530R		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3530					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTAGACTGCGGGGGTGGCCA	0.662		NaN											0	0	0	0.024245	0	14	42									
MYOM2	9172	broad.mit.edu	37	8	2026821	2026821	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:2026821A>C	uc003wpx.3	+	12	1407	c.1269A>C	c.(1267-1269)GAA>GAC	p.E423D	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	423	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAAGATGTGAAGTAGGAACGA	0.378		NaN											0	0	0	0.050027	0	31	17									
AMAC1L2	83650	broad.mit.edu	37	8	11189370	11189370	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:11189370G>A	uc003wtp.1	+	1	876	c.755G>A	c.(754-756)AGT>AAT	p.S252N		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	252	Helical; (Potential).					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		GACCTCCTGAGTTGGAGTTGT	0.632		NaN											0	0	0	0.02938	0	4	57									
PXDNL	137902	broad.mit.edu	37	8	52321799	52321799	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:52321799G>A	uc003xqu.3	-	17	2486	c.2385C>T	c.(2383-2385)CCC>CCT	p.P795P	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	795					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCTGTGGTCGGGGGTGACGG	0.726		NaN											0	0	0	0.004672	0	3	3									
PREX2	80243	broad.mit.edu	37	8	69020396	69020396	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:69020396C>T	uc003xxv.1	+	24	2795	c.2768C>T	c.(2767-2769)TCT>TTT	p.S923F	PREX2_uc011lez.1_Missense_Mutation_p.S858F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	923					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAGGCCAAATCTAAAATCTCC	0.403		NaN											0	0	0	0.014758	0	5	32									
PKHD1L1	93035	broad.mit.edu	37	8	110457754	110457754	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:110457754G>A	uc003yne.2	+	38	5760	c.5656G>A	c.(5656-5658)GCT>ACT	p.A1886T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1886	Extracellular (Potential).|IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCGCACTCCCGCTGGGACCAC	0.433		NaN								HNSCC(38;0.096)			0	0	0	0.004672	0	3	16									
RAD21	5885	broad.mit.edu	37	8	117866640	117866640	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:117866640C>G	uc003yod.2	-	9	1293	c.1005G>C	c.(1003-1005)AAG>AAC	p.K335N		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	335	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTCTAATTGTCTTGCTATCCA	0.378		NaN											0	0	0	0.028581	0	14	57									
ADCY8	114	broad.mit.edu	37	8	131922042	131922042	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:131922042C>T	uc003ytd.3	-	6	1808	c.1552G>A	c.(1552-1554)GGT>AGT	p.G518S	ADCY8_uc010mds.2_Missense_Mutation_p.G518S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	518	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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAAAACACCGCACAGCACC	0.473		NaN								HNSCC(32;0.087)			0	0	0	0.048971	0	63	51									
SLC45A4	57210	broad.mit.edu	37	8	142228784	142228784	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:142228784C>T	uc003ywd.1	-	4	1110	c.802G>A	c.(802-804)GAC>AAC	p.D268N	SLC45A4_uc003ywc.1_Missense_Mutation_p.D268N|SLC45A4_uc010meq.1_Missense_Mutation_p.D266N	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	319					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTCCAGGTCCAGCGCGGTG	0.672		NaN											0	0	0	0.086207	0	39	86									
TOP1MT	116447	broad.mit.edu	37	8	144406198	144406198	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:144406198G>A	uc003yxz.2	-	7	950	c.931C>T	c.(931-933)CGG>TGG	p.R311W	TOP1MT_uc011lkd.1_Missense_Mutation_p.R213W|TOP1MT_uc011lke.1_Missense_Mutation_p.R213W|TOP1MT_uc010mfb.2_Missense_Mutation_p.R213W|TOP1MT_uc011lkf.1_Missense_Mutation_p.R106W|TOP1MT_uc010mfd.1_Missense_Mutation_p.R106W	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	311					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCCACCGCCCGCTGTCTCGTC	0.582		NaN											0	0	0	0.048971	0	66	48									
SPAG8	26206	broad.mit.edu	37	9	35811307	35811307	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:35811307C>T	uc003zye.2	-	2	851	c.736G>A	c.(736-738)GAA>AAA	p.E246K	SPAG8_uc003zyf.2_Missense_Mutation_p.E163K|SPAG8_uc003zyg.2_Missense_Mutation_p.E246K	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	246						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGCAAAAATTCCCAAGGTGGT	0.532		NaN											0	0	0	0.069234	0	10	345									
NIPSNAP3B	55335	broad.mit.edu	37	9	107531159	107531159	+	Missense_Mutation	SNP	G	G	A	rs141198887	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:107531159G>A	uc004bci.2	+	3	358	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	NIPSNAP3A_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_RNA	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	96										pancreas(1)|skin(1)	2						TTTGCTCATCGAGCTGAAGTT	0.343		NaN											0	0	0	0.047766	0	8	20									
SVEP1	79987	broad.mit.edu	37	9	113252013	113252013	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:113252013G>C	uc010mtz.2	-	9	2184	c.1847C>G	c.(1846-1848)CCA>CGA	p.P616R	SVEP1_uc010mua.1_Missense_Mutation_p.P616R|SVEP1_uc004beu.2_Missense_Mutation_p.P616R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	616	HYR 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ATCTCCAATTGGGAAAAGGTA	0.398		NaN											0	0	0	0.062417	0	21	44									
LRSAM1	90678	broad.mit.edu	37	9	130265127	130265127	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:130265127G>A	uc004brb.1	+	26	2466	c.2121G>A	c.(2119-2121)CCG>CCA	p.P707P	LRSAM1_uc010mxk.1_Silent_p.P680P|LRSAM1_uc004brc.1_Silent_p.P707P|LRSAM1_uc004brd.1_Silent_p.P707P|LRSAM1_uc004bre.1_Silent_p.P287P|LRSAM1_uc004brg.1_Silent_p.P138P	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	707	RING-type.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						GCACCTGCCCGCTGTGCCGCC	0.682		NaN											0	0	0	0.058154	0	10	7									
ABO	28	broad.mit.edu	37	9	136137502	136137502	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:136137502C>T	uc004cda.1	-	2	123	c.98G>A	c.(97-99)GGT>GAT	p.G33D	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron	NM_020469	NP_065202	P16442	BGAT_HUMAN	ABO blood group (alpha	33	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TGTGTCTTACCCAAACAAGAC	0.488		NaN											0	0	0	0.009096	0	4	11									
ADAMTSL2	9719	broad.mit.edu	37	9	136409600	136409600	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:136409600C>T	uc011mdl.1	+	8	1248	c.691C>T	c.(691-693)CTG>TTG	p.L231L	ADAMTSL2_uc004cei.2_Silent_p.L231L	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	231					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AGGTTACTCTCTGGTGACCCA	0.587		NaN											0	0	0	0.045515	0	43	54									
RXRA	6256	broad.mit.edu	37	9	137321028	137321028	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:137321028G>A	uc004cfb.2	+	7	1147	c.985G>A	c.(985-987)GGG>AGG	p.G329R	RXRA_uc004cfc.1_Missense_Mutation_p.G232R	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	329	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCTGGCCACCGGGCTGCACGT	0.682		NaN											0	0	0	0.030593	0	28	51									
MAMDC4	158056	broad.mit.edu	37	9	139750013	139750013	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:139750013G>A	uc004cjs.2	+	12	1463	c.1413G>A	c.(1411-1413)CCG>CCA	p.P471P	MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	471	Extracellular (Potential).|LDL-receptor class A 3.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTGTGCCCCCGGAACAACTGT	0.701		NaN											0	0	0	0.004672	0	3	10									
DHRSX	207063	broad.mit.edu	37	X	2184836	2184836	+	Missense_Mutation	SNP	C	C	T	rs149133886		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:2184836C>T	uc004cqf.3	-	5	590	c.541G>A	c.(541-543)GTC>ATC	p.V181I		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	181							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCAGAGGAGACGGTGACCACC	0.547		NaN											0	0	0	0.048971	0	113	103									
DHRSX	207063	broad.mit.edu	37	X	2343295	2343295	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:2343295C>A	uc004cqf.3	-	2	209	c.160G>T	c.(160-162)GGC>TGC	p.G54C		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	54	NAD or NADP (By similarity).						binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGCCAATGCCATCTGTCCCT	0.408		NaN											1	0	2.62258e-09	0.039052	2.80502e-09	44	57									
KIF4A	24137	broad.mit.edu	37	X	69626162	69626162	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:69626162C>T	uc004dyg.2	+	27	3157	c.3030C>T	c.(3028-3030)ACC>ACT	p.T1010T	KIF4A_uc010nkw.2_Silent_p.T1010T	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1010	Globular.|Interaction with PRC1.			QKHLPKDTLLSP -> RTLPRIPFYLQ (in Ref. 8; AAF86334).	anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						CTAAGGATACCCTTCTATCTC	0.443		NaN											0	0	0	0.042209	0	41	6									
COL4A6	1288	broad.mit.edu	37	X	107433641	107433641	+	Silent	SNP	T	T	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:107433641T>A	uc004enw.3	-	20	1513	c.1410A>T	c.(1408-1410)CTA>CTT	p.L470L	COL4A6_uc004env.3_Silent_p.L469L|COL4A6_uc011msn.1_Silent_p.L469L|COL4A6_uc010npk.2_Silent_p.L469L	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	470	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CTTTGAGGCCTAGGTTTCCTT	0.453		NaN							Alport_syndrome_with_Diffuse_Leiomyomatosis				0	0	0	0.09836	0	42	14									
NBPF9	400818	broad.mit.edu	37	1	144615246	144615247	+	Splice_Site	INS	-	-	AG			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:144615246_144615247insAG	uc009wig.1	+	3	190	c.114_splice	c.e3+2	p.L38_splice	NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_5'UTR|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_5'UTR|NBPF9_uc010oyg.1_Frame_Shift_Ins_p.K39fs|NBPF9_uc009wii.1_5'UTR|NBPF9_uc009wif.1_RNA|C1orf152_uc001elf.3_5'Flank	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818							cytoplasm					0						GTAAACCTCAAAGAGATGTTTT	0.47		NaN											NaN	NaN	NaN	NaN	NaN	8	235	---	---							
TXNIP	10628	broad.mit.edu	37	1	145440061	145440064	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			AAAG	-	AAAG	AAAG		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:145440061_145440064delAAAG	uc001enn.3	+	4	836_839	c.495_498delAAAG	c.(493-498)GAAAAGfs	p.E165fs	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Del_p.E110fs	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	165_166					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.K166R(1)		ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAAAAAAGAAAAGAAAGTTTCCT	0.417		NaN											NaN	NaN	NaN	NaN	NaN	123	642	---	---							
PLD2	5338	broad.mit.edu	37	17	4721806	4721807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:4721806_4721807insA	uc002fzc.2	+	20	2128_2129	c.2027_2028insA	c.(2026-2028)CGAfs	p.R676fs	PLD2_uc002fzd.2_Frame_Shift_Ins_p.R676fs	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	676	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	TGGTGTTACCGAGTCTACGTGC	0.599		NaN											NaN	NaN	NaN	NaN	NaN	19	80	---	---							
ASNA1	439	broad.mit.edu	37	19	12856516	12856520	+	Frame_Shift_Del	DEL	GCGGG	GCGGG	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:12856516_12856520delGCGGG	uc002muv.2	+	4	566_570	c.552_556delGCGGG	c.(550-558)GAGCGGGGCfs	p.E184fs	ASNA1_uc002muw.2_Frame_Shift_Del_p.E183fs	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	184_186					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	p.E184_L187del(1)		ovary(2)	2					Adenosine triphosphate(DB00171)	CCATCGTGGAGCGGGGCCTGGGCCG	0.644		NaN											NaN	NaN	NaN	NaN	NaN	12	84	---	---							
ZNF341	84905	broad.mit.edu	37	20	32336863	32336863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:32336863delC	uc002wzy.2	+	4	494	c.474delC	c.(472-474)GGCfs	p.G158fs	ZNF341_uc002wzx.2_Frame_Shift_Del_p.G158fs|ZNF341_uc010geq.2_Frame_Shift_Del_p.G68fs|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	158	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGCCCCAGGGCCCCCCACCTG	0.537		NaN											NaN	NaN	NaN	NaN	NaN	21	49	---	---							
FSTL5	56884	broad.mit.edu	37	4	162954796	162954796	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:162954796delT	uc003iqh.2	-	3	577	c.141delA	c.(139-141)CAAfs	p.Q47fs	FSTL5_uc003iqi.2_Frame_Shift_Del_p.Q46fs|FSTL5_uc010iqv.2_Frame_Shift_Del_p.Q46fs|uc011cji.1_Intron	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	47						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAACTTTCTTGATTTTTTT	0.259		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---	---							
KIF6	221458	broad.mit.edu	37	6	39507890	39507890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:39507890delG	uc003oot.2	-	13	1629	c.1534delC	c.(1534-1536)CGCfs	p.R512fs	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Frame_Shift_Del_p.R303fs|KIF6_uc011dua.1_Frame_Shift_Del_p.R512fs|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	512					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TTTCCTAGGCGGAAGGGTGGG	0.498		NaN											NaN	NaN	NaN	NaN	NaN	8	254	---	---							
