Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
ACTRT2	140625	broad.mit.edu	37	1	2939160	2939160	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:2939160G>A	uc001ajz.2	+	1	1115	c.910G>A	c.(910-912)GGC>AGC	p.G304S		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	304						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCTGTCGGGGGGCACTACCCT	0.612		NA											24	53					0	0	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798137	7798138	+	Silent	DNP	GC	GC	AT			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:7798137_7798138GC>AT	uc001aoi.2	+	16	3984_3985	c.3777_3778GC>AT	c.(3775-3780)AAGCTG>AAATTG	p.1259_1260KL>KL	CAMTA1_uc010nzv.1_Silent_p.346_347KL>KL|CAMTA1_uc001aok.3_Silent_p.302_303KL>KL|CAMTA1_uc001aoj.2_Silent_p.215_216KL>KL	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1259_1260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGCAGGAGAAGCTGCTTCCCAC	0.495		NA											9	41					0	0	0	0
PABPC4	8761	broad.mit.edu	37	1	40034520	40034520	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:40034520T>A	uc010oiv.1	-	6	1728	c.830A>T	c.(829-831)AAA>ATA	p.K277I	PABPC4_uc001cdl.2_Missense_Mutation_p.K277I|PABPC4_uc001cdm.2_Missense_Mutation_p.K277I|SNORA55_uc001cdo.1_5'Flank	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	277					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAATTTCCGTTTTAACTCTGC	0.418		NA											28	64					0	0	0	0
CMPK1	51727	broad.mit.edu	37	1	47834266	47834266	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:47834266A>G	uc001cri.2	+	2	446	c.297A>G	c.(295-297)ATA>ATG	p.I99M	CMPK1_uc010omp.1_Intron|CMPK1_uc010omq.1_RNA	NM_016308	NP_057392	P30085	KCY_HUMAN	UMP-CMP kinase 1 isoform a	67					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			ovary(1)	1					Gemcitabine(DB00441)	CAGTTGAGATAACCATCAGTT	0.353		NA											8	24					0	0	0	0
C1orf83	127428	broad.mit.edu	37	1	54562121	54562121	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:54562121C>T	uc001cwt.1	+	5	802	c.602C>T	c.(601-603)ACG>ATG	p.T201M	C1orf83_uc001cwu.1_RNA	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN	hypothetical protein LOC127428	201	TFIIS central.				transcription, DNA-dependent	nucleus	DNA binding				0						CCAGTCGGCACGTTTGTACAG	0.582		NA											7	53					0	0	0	0
FUBP1	8880	broad.mit.edu	37	1	78430374	78430374	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:78430374C>T	uc001dii.2	-	10	883	c.794G>A	c.(793-795)CGG>CAG	p.R265Q	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.R286Q	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	265					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						ATACTCATTCCGAACTTCTCT	0.353		NA											17	57					0	0	0	0
OLFM3	118427	broad.mit.edu	37	1	102271700	102271700	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:102271700C>A	uc001duf.2	-	5	762	c.691G>T	c.(691-693)GTC>TTC	p.V231F	OLFM3_uc001dug.2_Missense_Mutation_p.V211F|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.V136F|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	231	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATGTCTTGACTGTAACTGGG	0.428		NA											10	31					2.68e-12	3.16e-12	1	0
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:145359169T>A	uc001end.3	+	74	9369	c.9334T>A	c.(9334-9336)TTG>ATG	p.L3112M	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3037											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCGTGTTGGCTTGGCTGTTGA	0.458		NA											8	781					0	0	0	0
RFX5	5993	broad.mit.edu	37	1	151316211	151316211	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:151316211G>T	uc001exv.1	-	9	917	c.703C>A	c.(703-705)CTC>ATC	p.L235I	RFX5_uc001exw.1_Missense_Mutation_p.L235I|RFX5_uc009wmr.1_Missense_Mutation_p.L235I|RFX5_uc010pcx.1_Missense_Mutation_p.L195I	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	235						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGAGATGAGATGCTGCTGT	0.582		NA											35	110					2.2e-25	2.72e-25	1	0
SLC27A3	11000	broad.mit.edu	37	1	153749041	153749041	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:153749041G>T	uc001fcz.2	+	2	921	c.856G>T	c.(856-858)GGG>TGG	p.G286W	SLC27A3_uc009won.2_RNA	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	solute carrier family 27 member 3	286					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			ovary(1)	1	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGAGCCATGGGGCTCCACCT	0.627		NA											4	152					1.24e-05	1.39e-05	1	0
CD5L	922	broad.mit.edu	37	1	157811469	157811469	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:157811469A>G	uc001frk.3	-	1	166	c.23T>C	c.(22-24)ATC>ACC	p.I8T		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	8					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCACCAAGGATCAAGGAGAA	0.453		NA											5	25					0	0	0	0
COPA	1314	broad.mit.edu	37	1	160262334	160262334	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:160262334C>T	uc009wti.2	-	28	3294	c.2900G>A	c.(2899-2901)CGC>CAC	p.R967H	COPA_uc001fvv.3_Missense_Mutation_p.R976H	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	967					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATAGGTTGTGCGGCCTCGGGC	0.498		NA											4	124					0	0	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738821	176738821	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:176738821G>T	uc001gkz.2	+	16	5566	c.4402G>T	c.(4402-4404)GAC>TAC	p.D1468Y	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1468	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CGGTGTTCCCGACCCGTCTTT	0.507		NA											16	102					0.000308642	0.000338835	1	0
ASPM	259266	broad.mit.edu	37	1	197072273	197072273	+	Silent	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:197072273C>A	uc001gtu.2	-	18	6365	c.6108G>T	c.(6106-6108)GTG>GTT	p.V2036V	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2036	IQ 14.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTCTTTTTCTCACTTTCATAC	0.338		NA											54	59					6.15e-18	7.42e-18	1	0
ATP2B4	493	broad.mit.edu	37	1	203682333	203682333	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:203682333G>C	uc001gzw.2	+	14	3136	c.2252G>C	c.(2251-2253)CGG>CCG	p.R751P	ATP2B4_uc001gzv.2_Missense_Mutation_p.R751P|ATP2B4_uc009xaq.2_Missense_Mutation_p.R751P	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	751	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTAAGCTTCGGGTCCTGGCG	0.537		NA											26	110					0	0	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213436154	213436154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:213436154C>T	uc010ptr.1	+	14	3244	c.3085C>T	c.(3085-3087)CAA>TAA	p.Q1029*	RPS6KC1_uc001hkd.2_Nonsense_Mutation_p.Q1017*|RPS6KC1_uc010pts.1_Nonsense_Mutation_p.Q817*|RPS6KC1_uc010ptt.1_Nonsense_Mutation_p.Q817*|RPS6KC1_uc010ptu.1_Nonsense_Mutation_p.Q848*|RPS6KC1_uc010ptv.1_Nonsense_Mutation_p.Q564*|RPS6KC1_uc001hke.2_Nonsense_Mutation_p.Q848*	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	1029	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTCACTCATTCAACAGGTAAT	0.418		NA											9	48					0	0	0	0
LYST	1130	broad.mit.edu	37	1	235952058	235952058	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:235952058G>T	uc001hxj.2	-	13	4806	c.4631C>A	c.(4630-4632)TCC>TAC	p.S1544Y	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1544					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAACGCTTTGGATCCCAGTGA	0.403		NA							Chediak-Higashi_syndrome				9	29					1.13e-05	1.28e-05	1	0
OR2M2	391194	broad.mit.edu	37	1	248344299	248344299	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:248344299A>G	uc010pzf.1	+	1	1012	c.1012A>G	c.(1012-1014)AAA>GAA	p.K338E		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	338	Cytoplasmic (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)			CTATGATGTCAAAATACTAGC	0.289		NA											23	114					0	0	0	0
PCGF5	84333	broad.mit.edu	37	10	93038049	93038049	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:93038049T>G	uc001khh.2	+	10	994	c.747T>G	c.(745-747)TAT>TAG	p.Y249*	PCGF5_uc010qnk.1_Nonsense_Mutation_p.Y249*|PCGF5_uc001khi.2_Nonsense_Mutation_p.Y249*	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			lung(1)	1						TACTGCAGTATCGACCAAGAA	0.358		NA											4	24					0	0	0	0
IDE	3416	broad.mit.edu	37	10	94294475	94294475	+	Silent	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:94294475T>C	uc001kia.2	-	3	427	c.351A>G	c.(349-351)GGA>GGG	p.G117G		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	117					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTTCTTTGTTCCCAAAAAAA	0.348		NA											28	36					0	0	0	0
CALHM1	255022	broad.mit.edu	37	10	105218230	105218230	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:105218230G>A	uc001kxe.2	-	1	419	c.279C>T	c.(277-279)CCC>CCT	p.P93P		NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	93						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			ovary(1)	1						GCAACACAGCGGGGTCCTTGG	0.642		NA											17	26					0	0	0	0
VENTX	27287	broad.mit.edu	37	10	135053283	135053283	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:135053283C>G	uc010quy.1	+	2	356	c.345C>G	c.(343-345)TAC>TAG	p.Y115*		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	115	Homeobox.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ACCACCAGTACCTGAGCCCTC	0.502		NA											27	33					0	0	0	0
AHNAK	79026	broad.mit.edu	37	11	62296954	62296954	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr11:62296954C>A	uc001ntl.2	-	5	5235	c.4935G>T	c.(4933-4935)GAG>GAT	p.E1645D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1645					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGAAATGCATCTCAGGCATCT	0.468		NA											71	224					8.73e-25	1.07e-24	1	0
RTN3	10313	broad.mit.edu	37	11	63488185	63488185	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr11:63488185C>A	uc001nxq.2	+	3	2398	c.2211C>A	c.(2209-2211)GAC>GAA	p.D737E	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.D718E|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.D625E|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	737					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						CATCTCTTGACTTAGAACAAG	0.423		NA											17	26					5.39e-06	6.14e-06	1	0
PTPN6	5777	broad.mit.edu	37	12	7065324	7065324	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr12:7065324C>T	uc001qsb.2	+	8	1106	c.864C>T	c.(862-864)ATC>ATT	p.I288I	PTPN6_uc001qsa.1_Silent_p.I290I|PTPN6_uc010sfr.1_Silent_p.I249I|PTPN6_uc009zfl.1_Silent_p.I288I|PTPN6_uc010sfs.1_Silent_p.I276I	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	288	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						GCCGAGTGATCCTGCAGGGAC	0.612		NA											14	34					0	0	0	0
USP15	9958	broad.mit.edu	37	12	62715344	62715344	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr12:62715344A>G	uc001src.1	+	5	584	c.575A>G	c.(574-576)AAT>AGT	p.N192S	USP15_uc001srb.1_Missense_Mutation_p.N192S|USP15_uc001sra.2_Missense_Mutation_p.N192S	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	192					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAACCACTGAATAAACCAGAC	0.338		NA											8	19					0	0	0	0
E2F7	144455	broad.mit.edu	37	12	77439832	77439832	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr12:77439832G>T	uc001sym.3	-	5	1051	c.815C>A	c.(814-816)CCC>CAC	p.P272H	E2F7_uc001syn.2_Missense_Mutation_p.P272H	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	272					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						GGGACAGTCGGGTTCAGAGAA	0.433		NA											12	34					0.000978159	0.00105474	1	0
SACS	26278	broad.mit.edu	37	13	23942586	23942586	+	Silent	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr13:23942586G>C	uc001uon.2	-	5	889	c.300C>G	c.(298-300)CTC>CTG	p.L100L	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	100					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATGTCCTTGAGAAAATCAA	0.373		NA											5	13					0	0	0	0
KLHL1	57626	broad.mit.edu	37	13	70549922	70549922	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr13:70549922G>A	uc001vip.2	-	2	1304	c.510C>T	c.(508-510)ACC>ACT	p.T170T	KLHL1_uc010thm.1_Intron	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	170					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGAATGGCCGGTTGATGACA	0.318		NA											3	30					0	0	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724915	38724915	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr14:38724915G>A	uc001wum.1	-	1	660	c.313C>T	c.(313-315)CTG>TTG	p.L105L		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	105	Extracellular (Potential).|C-type lectin.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCGTTCTCCAGGGTGCAGTGG	0.692		NA											3	8					0	0	0	0
FLRT2	23768	broad.mit.edu	37	14	86088851	86088851	+	Silent	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr14:86088851T>C	uc001xvr.2	+	2	1760	c.993T>C	c.(991-993)TCT>TCC	p.S331S	FLRT2_uc010atd.2_Silent_p.S331S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	331	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCCCTTCATCTCTCAACGTGC	0.488		NA											38	216					0	0	0	0
MAP1A	4130	broad.mit.edu	37	15	43821107	43821107	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr15:43821107G>A	uc001zrt.2	+	4	7903	c.7436G>A	c.(7435-7437)CGG>CAG	p.R2479Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2479						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGGGGGGCGGCGCCGGGTA	0.622		NA											17	33					0	0	0	0
SGK269	79834	broad.mit.edu	37	15	77474216	77474216	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr15:77474216T>C	uc002bcm.2	-	3	361	c.53A>G	c.(52-54)AAG>AGG	p.K18R	SGK269_uc002bcn.2_Missense_Mutation_p.K18R	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	18					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		AAAGCAATTCTTGCATTCACC	0.408		NA											23	43					0	0	0	0
ANKS3	124401	broad.mit.edu	37	16	4774826	4774826	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:4774826C>T	uc002cxj.1	-	6	793	c.498G>A	c.(496-498)CCG>CCA	p.P166P	ANKS3_uc002cxi.1_Silent_p.P93P|ANKS3_uc002cxk.2_Silent_p.P37P|ANKS3_uc002cxl.2_5'UTR|ANKS3_uc010uxs.1_Silent_p.P93P|ANKS3_uc002cxm.2_Intron	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	166											0						ATCCACATATCGGCTCCCTGC	0.488		NA											6	16					0	0	0	0
C16orf71	146562	broad.mit.edu	37	16	4793097	4793097	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:4793097A>C	uc002cxn.2	+	5	1299	c.837A>C	c.(835-837)GAA>GAC	p.E279D		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	279										central_nervous_system(1)	1						CGGGACAAGAAGACAACCAGG	0.527		NA											28	52					0	0	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28975123	28975123	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:28975123G>T	uc002dru.2	+	8	1214	c.1199G>T	c.(1198-1200)GGC>GTC	p.G400V	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.G121V|NFATC2IP_uc002drv.2_Missense_Mutation_p.G119V|NFATC2IP_uc010vdh.1_Missense_Mutation_p.G108V	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	400	Ubiquitin-like.					cytoplasm|nucleus				ovary(1)	1						AAGCTTTCAGGCAGGGAGCTG	0.587		NA											9	29					0.000442599	0.000484143	1	0
CDH11	1009	broad.mit.edu	37	16	64984856	64984856	+	Silent	SNP	G	G	A	rs142957030		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:64984856G>A	uc002eoi.2	-	12	2142	c.1708C>T	c.(1708-1710)CTG>TTG	p.L570L	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.L570L|CDH11_uc010vin.1_Silent_p.L444L	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	570	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACTATGGGCAGAAGGTACAAG	0.612		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			15	33					0	0	0	0
RANBP10	57610	broad.mit.edu	37	16	67761784	67761784	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:67761784C>T	uc002eud.2	-	12	1606	c.1490G>A	c.(1489-1491)CGG>CAG	p.R497Q	RANBP10_uc010ceo.2_Missense_Mutation_p.R268Q|RANBP10_uc010vju.1_Missense_Mutation_p.R471Q|RANBP10_uc010vjv.1_Missense_Mutation_p.R410Q|RANBP10_uc010vjw.1_Missense_Mutation_p.R188Q	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	497										ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GAGCTGCCGCCGAGGATGCCT	0.622		NA											12	29					0	0	0	0
RAI1	10743	broad.mit.edu	37	17	17697704	17697704	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr17:17697704G>T	uc002grm.2	+	3	1911	c.1442G>T	c.(1441-1443)TGC>TTC	p.C481F	RAI1_uc002grn.1_Missense_Mutation_p.C481F	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	481						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		AGCCAGCACTGCAGCCCCGAA	0.652		NA											19	66					4.63e-17	5.55e-17	1	0
CDC6	990	broad.mit.edu	37	17	38450241	38450241	+	Silent	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr17:38450241A>G	uc002huj.1	+	6	1086	c.876A>G	c.(874-876)AAA>AAG	p.K292K		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	292					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						TGGACAGCAAAGGCCAGGATG	0.393		NA											24	79					0	0	0	0
DSEL	92126	broad.mit.edu	37	18	65180850	65180850	+	Silent	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr18:65180850G>T	uc002lke.1	-	2	2250	c.1026C>A	c.(1024-1026)TCC>TCA	p.S342S		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	332						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AATTATAATTGGAATCTGCTA	0.363		NA											13	56					4.38e-07	5.05e-07	1	0
KEAP1	9817	broad.mit.edu	37	19	10597411	10597411	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:10597411T>C	uc002moq.1	-	6	1948	c.1792A>G	c.(1792-1794)ACA>GCA	p.T598A	KEAP1_uc002mop.1_Missense_Mutation_p.T257A|KEAP1_uc002mor.1_Missense_Mutation_p.T598A	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	598	Kelch 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGCCCGATGTCATTCGGGTC	0.567		NA											47	44					0	0	0	0
ZNF709	163051	broad.mit.edu	37	19	12575387	12575387	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:12575387C>A	uc002mtv.3	-	4	1510	c.1349G>T	c.(1348-1350)TGT>TTT	p.C450F	ZNF709_uc002mtw.3_Missense_Mutation_p.C418F|ZNF709_uc002mtx.3_Missense_Mutation_p.C450F	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	450	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACACTGTTTACATTCATAGGG	0.403		NA											27	82					4.88e-14	5.8e-14	1	0
ZNF302	55900	broad.mit.edu	37	19	35175566	35175566	+	Silent	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:35175566A>G	uc002nvr.1	+	6	1019	c.756A>G	c.(754-756)AAA>AAG	p.K252K	ZNF302_uc002nvp.1_Silent_p.K208K|ZNF302_uc002nvq.1_Silent_p.K208K|ZNF302_uc002nvs.1_Silent_p.K208K	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	287	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATGTGGGAAAGCCTTTGGCA	0.438		NA											54	60					0	0	0	0
AXL	558	broad.mit.edu	37	19	41749592	41749592	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:41749592G>A	uc010ehj.2	+	12	1707	c.1517G>A	c.(1516-1518)CGT>CAT	p.R506H	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.R506H|AXL_uc010ehk.2_Missense_Mutation_p.R497H	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	506	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						TCCTACAGTCGTCGGACCACT	0.562		NA											38	72					0	0	0	0
SLC8A2	6543	broad.mit.edu	37	19	47941206	47941206	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:47941206G>A	uc002pgx.2	-	7	2188	c.1910C>T	c.(1909-1911)GCC>GTC	p.A637V	SLC8A2_uc010xyq.1_Missense_Mutation_p.A393V|SLC8A2_uc010xyr.1_Missense_Mutation_p.A100V|SLC8A2_uc010ele.2_Missense_Mutation_p.A637V	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	637	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCCTCCTCGGCTGTTAGCTT	0.567		NA											27	101					0	0	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50463939	50463939	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:50463939G>A	uc010ybh.1	-	2	421	c.330C>T	c.(328-330)GGC>GGT	p.G110G	SIGLEC11_uc010ybi.1_Silent_p.G110G	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	110	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGCTCCCTTTGCCGGGATCCC	0.587		NA											11	87					0	0	0	0
BRSK1	84446	broad.mit.edu	37	19	55823324	55823324	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:55823324G>A	uc002qkg.2	+	19	2502	c.2225G>A	c.(2224-2226)CGA>CAA	p.R742Q	BRSK1_uc002qkf.2_Missense_Mutation_p.R758Q|BRSK1_uc002qkh.2_Missense_Mutation_p.R437Q	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	742					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCCCACCCCGAAGCCTGCAG	0.697		NA											5	17					0	0	0	0
LCLAT1	253558	broad.mit.edu	37	2	30863047	30863047	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:30863047G>C	uc002rnj.2	+	7	1016	c.807G>C	c.(805-807)GAG>GAC	p.E269D	LCLAT1_uc010ymp.1_Missense_Mutation_p.E107D|LCLAT1_uc002rnl.2_Missense_Mutation_p.E231D|LCLAT1_uc010ymq.1_Missense_Mutation_p.E231D	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	269					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						CTCAATCAGAGAAGCACCTCC	0.473		NA											51	63					0	0	0	0
CNNM4	26504	broad.mit.edu	37	2	97427416	97427416	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:97427416G>A	uc002swx.2	+	1	778	c.680G>A	c.(679-681)CGC>CAC	p.R227H		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	227	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						AAGGAGAGGCGCTATGCCCGC	0.592		NA											4	69					0	0	0	0
VWA3B	200403	broad.mit.edu	37	2	98852910	98852910	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:98852910C>T	uc002syo.2	+	18	2750	c.2486C>T	c.(2485-2487)ACG>ATG	p.T829M	VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.T348M|VWA3B_uc002sym.2_Missense_Mutation_p.T829M|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.T486M|VWA3B_uc002syp.1_Missense_Mutation_p.T221M|VWA3B_uc002syq.1_Missense_Mutation_p.T105M|VWA3B_uc002syr.1_Missense_Mutation_p.T146M|VWA3B_uc010fih.1_5'Flank	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	829										ovary(3)|large_intestine(2)|skin(1)	6						GAAAAGGTGACGCGAGAAGGA	0.423		NA											22	45					0	0	0	0
INPP4A	3631	broad.mit.edu	37	2	99160454	99160454	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:99160454C>T	uc002syy.2	+	11	1326	c.933C>T	c.(931-933)GAC>GAT	p.D311D	INPP4A_uc010yvj.1_Silent_p.D311D|INPP4A_uc010yvk.1_Silent_p.D311D|INPP4A_uc002syx.2_Silent_p.D311D|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	311					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						ACCTGACCGACCTCCATCAGT	0.488		NA											3	5					0	0	0	0
POTEE	445582	broad.mit.edu	37	2	131976382	131976382	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:131976382G>A	uc002tsn.2	+	1	459	c.407G>A	c.(406-408)CGT>CAT	p.R136H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	136							ATP binding				0						TACCACGTCCGTGGAGAAGAT	0.592		NA											29	78					0	0	0	0
KYNU	8942	broad.mit.edu	37	2	143712382	143712382	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:143712382C>G	uc002tvl.2	+	5	507	c.377C>G	c.(376-378)GCC>GGC	p.A126G	KYNU_uc002tvk.2_Missense_Mutation_p.A126G|KYNU_uc010fnm.2_Missense_Mutation_p.A126G	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	126					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TTTACAGGAGCCAATGAGAAA	0.299		NA											3	28					0	0	0	0
NFE2L2	4780	broad.mit.edu	37	2	178096545	178096545	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:178096545G>C	uc002ulh.3	-	5	1341	c.786C>G	c.(784-786)GAC>GAG	p.D262E	NFE2L2_uc002ulg.3_Missense_Mutation_p.D246E|NFE2L2_uc010zfa.1_Missense_Mutation_p.D239E|NFE2L2_uc002uli.3_Missense_Mutation_p.D246E	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	262					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTGGTTGGGGTCTTCTGTGG	0.403		NA	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			10	41					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179471858	179471858	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:179471858A>G	uc010zfg.1	-	227	45991	c.45767T>C	c.(45766-45768)ATC>ACC	p.I15256T	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I8951T|TTN_uc010zfi.1_Missense_Mutation_p.I8884T|TTN_uc010zfj.1_Missense_Mutation_p.I8759T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16183							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)			CAGACCTGTGATGTCACATTT	0.413		NA											24	130					0	0	0	0
ZNF142	7701	broad.mit.edu	37	2	219510940	219510940	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:219510940T>A	uc002vin.2	-	7	1841	c.1405A>T	c.(1405-1407)AAG>TAG	p.K469*	ZNF142_uc002vil.2_Nonsense_Mutation_p.K430*|ZNF142_uc010fvt.2_Nonsense_Mutation_p.K306*|ZNF142_uc002vim.2_Nonsense_Mutation_p.K306*	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	469	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGTAGTGCTTCCACTTGGTG	0.517		NA											43	56					0	0	0	0
COPS7B	64708	broad.mit.edu	37	2	232653363	232653363	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:232653363C>A	uc002vsg.1	+	2	186	c.83C>A	c.(82-84)ACT>AAT	p.T28N	COPS7B_uc010fxy.1_Intron|COPS7B_uc002vsh.1_Missense_Mutation_p.T28N|COPS7B_uc002vsi.1_Translation_Start_Site|COPS7B_uc002vsj.1_5'Flank	NM_022730	NP_073567	Q9H9Q2	CSN7B_HUMAN	COP9 constitutive photomorphogenic homolog	28					cullin deneddylation	cytoplasm|signalosome				ovary(1)|liver(1)|skin(1)	3		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCAGCCCTCACTGCTCTCATA	0.498		NA											29	41					8.58e-18	1.03e-17	1	0
SLC23A2	9962	broad.mit.edu	37	20	4880210	4880210	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr20:4880210A>G	uc002wlg.1	-	6	848	c.473T>C	c.(472-474)TTT>TCT	p.F158S	SLC23A2_uc010zqr.1_Missense_Mutation_p.F157S|SLC23A2_uc002wlh.1_Missense_Mutation_p.F158S|SLC23A2_uc002wli.2_Missense_Mutation_p.F157S	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	158	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						CCTGCATCCAAACGTTGTCTG	0.552		NA											71	176					0	0	0	0
XRN2	22803	broad.mit.edu	37	20	21312236	21312236	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr20:21312236A>G	uc002wsf.1	+	7	709	c.614A>G	c.(613-615)GAA>GGA	p.E205G	XRN2_uc002wsg.1_Missense_Mutation_p.E129G|XRN2_uc010zsk.1_Missense_Mutation_p.E151G	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	205					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						GGTGAAGGAGAACATAAAATC	0.289		NA											16	36					0	0	0	0
MRPL39	54148	broad.mit.edu	37	21	26978860	26978860	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr21:26978860G>C	uc002ylo.2	-	2	195	c.181C>G	c.(181-183)CGA>GGA	p.R61G	MRPL39_uc002yln.2_Missense_Mutation_p.R61G	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	61						mitochondrial ribosome	nucleotide binding				0						TTCTCAGTTCGGGGAGTTAAT	0.433		NA											10	40					0	0	0	0
APP	351	broad.mit.edu	37	21	27394285	27394285	+	Missense_Mutation	SNP	C	C	T	rs147485129		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr21:27394285C>T	uc002ylz.2	-	6	936	c.736G>A	c.(736-738)GAG>AAG	p.E246K	APP_uc010glk.2_Missense_Mutation_p.E241K|APP_uc002yma.2_Missense_Mutation_p.E246K|APP_uc011ach.1_Missense_Mutation_p.E190K|APP_uc002ymb.2_Missense_Mutation_p.E246K|APP_uc010glj.2_Missense_Mutation_p.E190K|APP_uc011aci.1_Missense_Mutation_p.E211K|APP_uc011acj.1_Missense_Mutation_p.E246K	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	246	Extracellular (Potential).|Asp/Glu-rich (acidic).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				tcatcgtcctcgtcatcatcg	0.114		NA											9	35					0	0	0	0
NEFH	4744	broad.mit.edu	37	22	29879403	29879403	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:29879403C>T	uc003afo.2	+	2	994	c.923C>T	c.(922-924)ACA>ATA	p.T308I		NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	308	Coil 2B.|Rod.				cell death|nervous system development	neurofilament					0						AAGGTGAACACAGACGCTATG	0.597		NA											56	271					0	0	0	0
SSTR3	6753	broad.mit.edu	37	22	37603361	37603361	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:37603361C>T	uc003ara.2	-	2	544	c.482G>A	c.(481-483)CGC>CAC	p.R161H	SSTR3_uc003arb.2_Missense_Mutation_p.R161H	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	161	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						GCTGACCGTGCGGGCCACCGG	0.682		NA											53	59					0	0	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39387518	39387518	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:39387518A>G	uc003awo.1	+	6	959	c.905A>G	c.(904-906)CAC>CGC	p.H302R	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.H277R|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	302					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					GAGAACACACACGTGAGACTG	0.597		NA											14	212					0	0	0	0
FANCD2	2177	broad.mit.edu	37	3	10122836	10122836	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:10122836A>G	uc003buw.2	+	31	3107	c.3029A>G	c.(3028-3030)CAA>CGA	p.Q1010R	FANCD2_uc003bux.1_Missense_Mutation_p.Q1010R|FANCD2_uc003buy.1_Missense_Mutation_p.Q1010R|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1010					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGATCTGCCCAAGAAATTGTT	0.408		NA	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				18	46					0	0	0	0
CAND2	23066	broad.mit.edu	37	3	12858258	12858258	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:12858258C>G	uc003bxk.2	+	10	1876	c.1827C>G	c.(1825-1827)GAC>GAG	p.D609E	CAND2_uc003bxj.2_Missense_Mutation_p.D516E	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	609	HEAT 13.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TTGGGGATGACCTGGAGCCCA	0.647		NA											23	149					0	0	0	0
SLC4A7	9497	broad.mit.edu	37	3	27477926	27477926	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:27477926C>A	uc003cdv.2	-	5	586	c.515G>T	c.(514-516)GGA>GTA	p.G172V	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.G177V|SLC4A7_uc011aww.1_Missense_Mutation_p.G181V|SLC4A7_uc011awx.1_Missense_Mutation_p.G181V|SLC4A7_uc011awy.1_Missense_Mutation_p.G177V|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.G177V|SLC4A7_uc011axb.1_Missense_Mutation_p.G181V|SLC4A7_uc010hfm.2_Missense_Mutation_p.G177V|SLC4A7_uc003cdw.2_Missense_Mutation_p.G172V	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	172	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						CATGACTGTTCCATTGAGGAT	0.393		NA											11	30					4.69e-08	5.44e-08	1	0
SETD2	29072	broad.mit.edu	37	3	47162207	47162207	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:47162207C>G	uc003cqs.2	-	3	3972	c.3919G>C	c.(3919-3921)GAT>CAT	p.D1307H	SETD2_uc003cqv.2_Missense_Mutation_p.D1296H	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GATCTTGGATCCCAGTAACCA	0.473		NA	N|F|S|Mis		clear cell renal carcinoma								10	31					0	0	0	0
SLC12A8	84561	broad.mit.edu	37	3	124906105	124906105	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:124906105G>A	uc003ehv.3	-	4	477	c.366C>T	c.(364-366)ATC>ATT	p.I122I	SLC12A8_uc003ehw.3_Silent_p.I151I|SLC12A8_uc010hrz.1_5'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	122					potassium ion transport	integral to membrane	symporter activity				0						AGAGCAGCCCGATGGTGCCTC	0.627		NA											14	72					0	0	0	0
PLD1	5337	broad.mit.edu	37	3	171394572	171394572	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:171394572G>A	uc003fhs.2	-	18	2164	c.2048C>T	c.(2047-2049)TCT>TTT	p.S683F	PLD1_uc003fht.2_Missense_Mutation_p.S645F|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Missense_Mutation_p.S8F	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	683	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGGACTGCAGAGGCAATGTC	0.532		NA											8	81					0	0	0	0
TBCK	93627	broad.mit.edu	37	4	107016738	107016738	+	Silent	SNP	T	T	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:107016738T>G	uc010ilv.2	-	25	2837	c.2472A>C	c.(2470-2472)GCA>GCC	p.A824A	TBCK_uc003hyb.2_Silent_p.A567A|TBCK_uc003hye.2_Silent_p.A785A|TBCK_uc003hyc.2_Silent_p.A761A|TBCK_uc003hyd.2_Silent_p.A652A|TBCK_uc003hyf.2_Silent_p.A824A	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	824	Rhodanese.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						GCTCCCCTTCTGCAGTGAAGG	0.468		NA											11	45					0	0	0	0
KIAA0922	23240	broad.mit.edu	37	4	154525199	154525199	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:154525199G>A	uc003inm.3	+	25	3084	c.3032G>A	c.(3031-3033)AGC>AAC	p.S1011N	KIAA0922_uc010ipp.2_Missense_Mutation_p.S1012N|KIAA0922_uc010ipq.2_Missense_Mutation_p.S780N	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1011	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CCCCTGGGCAGCTCACTGCCT	0.502		NA											13	67					0	0	0	0
ADAM29	11086	broad.mit.edu	37	4	175898746	175898746	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:175898746A>T	uc003iuc.2	+	5	2740	c.2070A>T	c.(2068-2070)TTA>TTT	p.L690F	ADAM29_uc003iud.2_Missense_Mutation_p.L690F|ADAM29_uc010irr.2_Missense_Mutation_p.L690F|ADAM29_uc011cki.1_Missense_Mutation_p.L690F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	690	Helical; (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTTTATTTTATTATGTTGTC	0.343		NA											9	19					0	0	0	0
TTC37	9652	broad.mit.edu	37	5	94820469	94820469	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:94820469C>G	uc003klb.2	-	38	4282	c.4012G>C	c.(4012-4014)GAC>CAC	p.D1338H		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1338	TPR 19.						binding			ovary(3)|pancreas(1)	4						CTTCCTGTGTCTATTAGACCA	0.348		NA											18	25					0	0	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256690	140256690	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:140256690C>G	uc003lic.2	+	1	1760	c.1633C>G	c.(1633-1635)CTG>GTG	p.L545V	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_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.L545V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	545	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCCGCCTCTGGGCAGCAA	0.697		NA											36	79					0	0	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788292	140788292	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:140788292A>C	uc003lkj.1	+	1	523	c.523A>C	c.(523-525)AAT>CAT	p.N175H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.N175H	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	175	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAAACTCTAATCCTTATTT	0.388		NA											10	7					0	0	0	0
FAM71B	153745	broad.mit.edu	37	5	156590665	156590666	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:156590665_156590666GC>AA	uc003lwn.2	-	2	710_711	c.610_611GC>TT	c.(610-612)GCA>TTA	p.A204L		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	204						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGAGCTCTGCAGCCTATACC	0.49		NA											18	53					0	0	0	0
PECI	10455	broad.mit.edu	37	6	4135788	4135788	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:4135788T>C	uc003mwf.2	-	1	44	c.7A>G	c.(7-9)ATG>GTG	p.M3V	PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_5'UTR|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_5'Flank|uc003mwg.1_5'Flank	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	3					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAGTACGCCATCGCCATCCCT	0.652		NA											19	59					0	0	0	0
SCAND3	114821	broad.mit.edu	37	6	28540656	28540656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:28540656C>A	uc003nlo.2	-	4	3628	c.3010G>T	c.(3010-3012)GAA>TAA	p.E1004*		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1004					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						gcaagactttctcgatgaatg	0		NA											16	34					3.52e-12	4.13e-12	1	0
OR2H1	26716	broad.mit.edu	37	6	29429639	29429639	+	Silent	SNP	T	T	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:29429639T>A	uc003nmi.2	+	3	536	c.93T>A	c.(91-93)ACT>ACA	p.T31T	OR2H1_uc003nmj.1_Silent_p.T31T|OR2H1_uc010jri.1_Intron	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTGTCTTCACTTCCTACCTCT	0.522		NA											4	166					0	0	0	0
ZFP57	346171	broad.mit.edu	37	6	29641487	29641487	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:29641487T>C	uc011dlw.1	-	4	552	c.401A>G	c.(400-402)GAG>GGG	p.E134G	ZFP57_uc003nnl.3_Missense_Mutation_p.E114G	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						ACTAGTCCCCTCATCTCTCAG	0.512		NA											3	142					0	0	0	0
HLA-F	3134	broad.mit.edu	37	6	29692932	29692932	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:29692932G>C	uc010jrl.2	+	4	859	c.735G>C	c.(733-735)CAG>CAC	p.Q245H	HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Missense_Mutation_p.Q245H|HLA-F_uc011dlx.1_Missense_Mutation_p.Q245H|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	245	Alpha-3.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						GGGAGGAACAGACCCAGGACA	0.627		NA											14	44					0	0	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32906490	32906490	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:32906490G>A	uc003ocl.1	-	2	541	c.308C>T	c.(307-309)CCC>CTC	p.P103L	HLA-DMB_uc003ocj.1_Missense_Mutation_p.P103L|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.P103L	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	103	Beta-1.|Lumenal (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						TCCCCAGAAGGGCTGGGTGTG	0.572		NA											25	77					0	0	0	0
PEX6	5190	broad.mit.edu	37	6	42934376	42934376	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:42934376C>T	uc003otf.2	-	10	2074	c.1981G>A	c.(1981-1983)GAG>AAG	p.E661K	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	661					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCATCCTCCTCAGTCAAGCCA	0.597		NA											32	128					0	0	0	0
PAQR8	85315	broad.mit.edu	37	6	52268767	52268767	+	Silent	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:52268767C>A	uc003pao.3	+	2	930	c.756C>A	c.(754-756)ATC>ATA	p.I252I		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	252	Helical; Name=5; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					CCCTCCAGATCCTCTTCTTCC	0.577		NA											17	50					2.23e-06	2.55e-06	1	0
GCM1	8521	broad.mit.edu	37	6	52993147	52993147	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:52993147G>A	uc003pbp.2	-	6	1377	c.1168C>T	c.(1168-1170)CTC>TTC	p.L390F		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	390						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					TAGGTGAAGAGAAAGGGGTCT	0.443		NA											13	269					0	0	0	0
FBXL4	26235	broad.mit.edu	37	6	99374830	99374830	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:99374830G>C	uc003ppf.1	-	3	393	c.35C>G	c.(34-36)ACC>AGC	p.T12S	FBXL4_uc003ppg.1_Missense_Mutation_p.T12S|FBXL4_uc003pph.1_5'UTR	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	12					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				skin(2)	2		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATAAAACATGGTCAGAACTGT	0.433		NA											15	75					0	0	0	0
SIM1	6492	broad.mit.edu	37	6	100898154	100898154	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:100898154C>T	uc003pqj.3	-	3	544	c.337G>A	c.(337-339)GGT>AGT	p.G113S	SIM1_uc010kcu.2_Missense_Mutation_p.G113S	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	113	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGAGAAAGACCCAAGTGGACT	0.562		NA											32	107					0	0	0	0
LRP11	84918	broad.mit.edu	37	6	150174158	150174158	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:150174158T>C	uc003qng.2	-	2	1076	c.752A>G	c.(751-753)GAC>GGC	p.D251G	LRP11_uc003qnh.1_Missense_Mutation_p.D251G	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	251	PKD.|Extracellular (Potential).					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CACTGACGGGTCCCCCTGCAG	0.542		NA											4	54					0	0	0	0
SDK1	221935	broad.mit.edu	37	7	4249658	4249658	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:4249658C>T	uc003smx.2	+	38	5542	c.5403C>T	c.(5401-5403)GCC>GCT	p.A1801A	SDK1_uc010kso.2_Silent_p.A1057A|SDK1_uc003smy.2_Silent_p.A288A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1801					cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTCTCCCAGCCCCTGGGGCCC	0.522		NA											4	118					0	0	0	0
EGFR	1956	broad.mit.edu	37	7	55210023	55210023	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:55210023G>C	uc003tqk.2	+	2	379	c.133G>C	c.(133-135)GAA>CAA	p.E45Q	EGFR_uc003tqh.2_Missense_Mutation_p.E45Q|EGFR_uc003tqi.2_Missense_Mutation_p.E45Q|EGFR_uc003tqj.2_Missense_Mutation_p.E45Q|EGFR_uc010kzg.1_Missense_Mutation_p.E45Q|EGFR_uc011kco.1_5'UTR	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	45	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGGCACTTTTGAAGATCATTT	0.398		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	350					0	0	0	0
STEAP4	79689	broad.mit.edu	37	7	87910314	87910314	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:87910314C>T	uc003ujs.2	-	4	1170	c.1065G>A	c.(1063-1065)GGG>GGA	p.G355G	STEAP4_uc010lek.2_Silent_p.G179G	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	355	Ferric oxidoreductase.|Helical; (Potential).				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					ACAGAAAAAACCCAAGTATTC	0.408		NA											19	34					0	0	0	0
TRRAP	8295	broad.mit.edu	37	7	98608797	98608797	+	Silent	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:98608797C>A	uc003upp.2	+	70	11228	c.11019C>A	c.(11017-11019)ACC>ACA	p.T3673T	TRRAP_uc011kis.1_Silent_p.T3644T|TRRAP_uc003upr.2_Silent_p.T3379T|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3673	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGATGTTCACCATCCAGCTGG	0.537		NA											20	73					1.97e-08	2.29e-08	1	0
FBXO24	26261	broad.mit.edu	37	7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:100198322A>G	uc003uvm.1	+	10	1836	c.1543A>G	c.(1543-1545)ATG>GTG	p.M515V	FBXO24_uc003uvn.1_Missense_Mutation_p.M153V|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.M553V|FBXO24_uc011kka.1_Missense_Mutation_p.M503V|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	515						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662		NA											3	50					0	0	0	0
SLC35B4	84912	broad.mit.edu	37	7	133979789	133979789	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:133979789G>A	uc003vrn.2	-	10	1116	c.792C>T	c.(790-792)TGC>TGT	p.C264C	SLC35B4_uc010lmk.2_Silent_p.C128C|SLC35B4_uc010lml.1_Intron	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	264	Helical; (Potential).					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			skin(1)	1						TGAGGGAGGCGCATTCTGTGG	0.537		NA											7	377					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	3432474	3432474	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr8:3432474G>A	uc011kwk.1	-	10	1730	c.1340C>T	c.(1339-1341)CCG>CTG	p.P447L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	447	CUB 3.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCTTGTCCGGGTCGGTGGT	0.522		NA											16	31					0	0	0	0
ADHFE1	137872	broad.mit.edu	37	8	67372555	67372555	+	Missense_Mutation	SNP	G	G	A	rs144952353		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr8:67372555G>A	uc003xwb.3	+	13	1209	c.1175G>A	c.(1174-1176)CGC>CAC	p.R392H	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.R344H|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.R322H	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	392					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCCGACACCCGCACTGCCAGG	0.517		NA									OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	155					0	0	0	0
EXT1	2131	broad.mit.edu	37	8	118847731	118847731	+	Silent	SNP	A	A	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr8:118847731A>T	uc003yok.1	-	3	1889	c.1116T>A	c.(1114-1116)ATT>ATA	p.I372I		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	372	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGTTCCAATTAATCACTTCAG	0.507		NA	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				4	94					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974678	21974678	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr9:21974678T>C	uc003zpk.2	-	1	361	c.149A>G	c.(148-150)CAG>CGG	p.Q50R	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.Q50R|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	50	ANK 2.		Q -> R (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(25)|p.Q50*(5)|p.Q50R(1)|p.V28_V51del(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTACCCACCTGGATCGGCCT	0.682		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			94	81					0	0	0	0
GCNT1	2650	broad.mit.edu	37	9	79117750	79117750	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr9:79117750C>T	uc010mpf.2	+	3	794	c.453C>T	c.(451-453)TGC>TGT	p.C151C	GCNT1_uc010mpg.2_Silent_p.C151C|GCNT1_uc010mph.2_Silent_p.C151C|GCNT1_uc004akf.3_Silent_p.C151C|GCNT1_uc010mpi.2_Silent_p.C151C|GCNT1_uc004akh.3_Silent_p.C151C	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	151	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0						ATTTCTATTGCATTCATGTGG	0.443		NA											22	35					0	0	0	0
NOL8	55035	broad.mit.edu	37	9	95064013	95064013	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr9:95064013C>G	uc004arv.2	-	13	3332	c.2995G>C	c.(2995-2997)GAA>CAA	p.E999Q	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.E231Q|NOL8_uc011ltw.1_Missense_Mutation_p.E931Q	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	999					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TGGAATATTTCTTTCAGATCC	0.388		NA											5	11					0	0	0	0
DMD	1756	broad.mit.edu	37	X	31854842	31854842	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:31854842G>T	uc004dda.1	-	49	7437	c.7193C>A	c.(7192-7194)CCA>CAA	p.P2398Q	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.P1054Q|DMD_uc004dcx.2_Missense_Mutation_p.P1057Q|DMD_uc004dcz.2_Missense_Mutation_p.P2275Q|DMD_uc004dcy.1_Missense_Mutation_p.P2394Q|DMD_uc004ddb.1_Missense_Mutation_p.P2390Q|DMD_uc004ddd.1_5'UTR	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2398					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACCTTCACTGGCTGAGTGGC	0.423		NA											23	16					1.37e-18	1.66e-18	1	0
CSTF2	1478	broad.mit.edu	37	X	100078983	100078983	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:100078983G>A	uc004egh.2	+	5	611	c.553G>A	c.(553-555)GAA>AAA	p.E185K	CSTF2_uc010nnd.2_Missense_Mutation_p.E185K|CSTF2_uc004egi.2_Missense_Mutation_p.E185K	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	185	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						TGTGGATCCGGAAATTGCCCT	0.468		NA											23	45					0	0	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685719	125685719	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:125685719G>A	uc004eul.2	-	1	1124	c.873C>T	c.(871-873)GCC>GCT	p.A291A		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	291	WD 3.									skin(3)|ovary(1)	4						GTGCGCTCCCGGCTTTCCACA	0.607		NA											15	30					0	0	0	0
ZNF185	7739	broad.mit.edu	37	X	152113985	152113985	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:152113985C>T	uc010ntv.1	+	16	1420	c.1383C>T	c.(1381-1383)GTC>GTT	p.V461V	ZNF185_uc011myg.1_Silent_p.V493V|ZNF185_uc011myh.1_Silent_p.V464V|ZNF185_uc011myi.1_Silent_p.V432V|ZNF185_uc011myj.1_Silent_p.V402V|ZNF185_uc011myk.1_Silent_p.V462V|ZNF185_uc004fgw.3_Silent_p.V240V|ZNF185_uc004fgu.2_Silent_p.V90V|ZNF185_uc004fgv.2_Silent_p.V158V|ZNF185_uc004fgx.2_Silent_p.V99V	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	461						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAACTTGTCAGACGAGAGA	0.607		NA											6	3					0	0	0	0
ATP8B2	57198	broad.mit.edu	37	1	154303375	154303378	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:154303375_154303378delACTT	uc001fey.1	+	3	421_424	c.232_235delACTT	c.(232-237)ACTTACfs	p.T78fs	ATP8B2_uc001few.2_Frame_Shift_Del_p.T59fs|ATP8B2_uc001fex.2_Frame_Shift_Del_p.T92fs	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform b	78_79	Helical; (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTTGCCAACACTTACTTCCTGTT	0.461		NA											7	49	---	---	---	---	NA	NA	NA	NA
ZIC2	7546	broad.mit.edu	37	13	100634394	100634396	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr13:100634394_100634396delGCG	uc001von.2	+	1	76_78	c.76_78delGCG	c.(76-78)GCGdel	p.A33del		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	33	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTccgccgcggcggcggcgg	0.616		NA											2	4	---	---	---	---	NA	NA	NA	NA
ARHGAP5	394	broad.mit.edu	37	14	32560503	32560516	+	Frame_Shift_Del	DEL	AGAGAAGTTCAGGC	AGAGAAGTTCAGGC	-			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr14:32560503_32560516delAGAGAAGTTCAGGC	uc001wrl.2	+	2	867_880	c.628_641delAGAGAAGTTCAGGC	c.(628-642)AGAGAAGTTCAGGCAfs	p.R210fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.R210fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.R210fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	210_214					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCATTATCTTAGAGAAGTTCAGGCATTTGCTTCA	0.322		NA											9	58	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7578180	7578181	+	Frame_Shift_Ins	INS	-	-	T	rs138983188		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr17:7578180_7578181insT	uc002gim.2	-	6	862_863	c.668_669insA	c.(667-669)CCTfs	p.P223fs	TP53_uc002gig.1_Frame_Shift_Ins_p.P223fs|TP53_uc002gih.2_Frame_Shift_Ins_p.P223fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P91fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P91fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P91fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P223fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P223fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P223fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.P130fs|TP53_uc002gio.2_Frame_Shift_Ins_p.P91fs|TP53_uc010vug.1_Frame_Shift_Ins_p.P184fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	223	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> L (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> S (in a sporadic cancer; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> H (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.0?(7)|p.P223P(4)|p.P223L(4)|p.?(2)|p.P223H(2)|p.Y220_P223delYEPP(1)|p.P223S(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P223A(1)|p.P223fs*24(1)|p.P223R(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)		ACCAGACCTCAGGCGGCTCATA	0.535		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)			8	20	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187628726	187628732	+	Frame_Shift_Del	DEL	CAGTTTT	CAGTTTT	-			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:187628726_187628732delCAGTTTT	uc003izf.2	-	2	2438_2444	c.2250_2256delAAAACTG	c.(2248-2256)GGAAAACTGfs	p.G750fs	FAT1_uc010iso.1_Frame_Shift_Del_p.G750fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	750_752	Extracellular (Potential).|Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CAGCATAGACCAGTTTTCCATTGAAGC	0.425		NA								HNSCC(5;0.00058)			58	32	---	---	---	---	NA	NA	NA	NA
