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	ACHILLES_Top_Genes	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MIB2	142678	broad.mit.edu	37	1	1559174	1559174	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:1559174A>T	uc001agg.2	+	4	569	c.442A>T	c.(442-444)ATC>TTC	p.I148F	MIB2_uc001agh.2_Missense_Mutation_p.I134F|MIB2_uc001agi.2_Missense_Mutation_p.I148F|MIB2_uc001agj.2_5'UTR|MIB2_uc001agk.2_Missense_Mutation_p.I148F|MIB2_uc001agl.1_Missense_Mutation_p.I104F|MIB2_uc001agm.2_Missense_Mutation_p.I90F|MIB2_uc010nyq.1_Missense_Mutation_p.I104F|MIB2_uc009vkh.2_5'UTR|MIB2_uc001agn.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	148	ZZ-type.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCCAACATCATCTGTGACTG	0.677			NA											3	13					0	0	0.004672	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17966799	17966799	+	Splice_Site	SNP	T	T	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:17966799T>G	uc001ban.2	+	21	2431	c.2272_splice	c.e21+2	p.R758_splice	ARHGEF10L_uc009vpe.1_Splice_Site_p.R719_splice|ARHGEF10L_uc001bao.2_Splice_Site_p.R719_splice|ARHGEF10L_uc001bap.2_Splice_Site_p.R714_splice|ARHGEF10L_uc001baq.2_Splice_Site_p.R519_splice|ARHGEF10L_uc010ocs.1_Splice_Site_p.R531_splice|ARHGEF10L_uc001bar.2_Splice_Site_p.R461_splice|ARHGEF10L_uc009vpf.2_Splice_Site	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)						regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCGGACTCCGTGAGTATAGCC	0.577			NA											5	23					0	0	0.000602	0	0
KLF17	128209	broad.mit.edu	37	1	44595592	44595592	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:44595592G>A	uc001clp.2	+	2	707	c.649G>A	c.(649-651)GCC>ACC	p.A217T	KLF17_uc009vxf.1_Missense_Mutation_p.A180T	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	zinc finger protein 393	217					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					CCCGCAAGATGCCCATGACCT	0.567			NA											35	64					0	0	0.003271	0	0
ABCA4	24	broad.mit.edu	37	1	94543389	94543389	+	Missense_Mutation	SNP	C	C	T	rs1800548	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:94543389C>T	uc001dqh.2	-	11	1515	c.1411G>A	c.(1411-1413)GAA>AAA	p.E471K	ABCA4_uc010otn.1_Missense_Mutation_p.E471K	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	471	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTAATACCTTCTTCACCAAGC	0.463			NA											8	240					0	0	0.00308	0	0
RBM15	64783	broad.mit.edu	37	1	110882747	110882747	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:110882747C>T	uc001dzl.1	+	1	803	c.720C>T	c.(718-720)CTC>CTT	p.L240L	RBM15_uc001dzm.1_Silent_p.L240L|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	240	RRM 1.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTGGTGCTCTATGACCGGC	0.622			NA	T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	78					0	0	0.004007	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368660	145368660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:145368660G>T	uc001end.3	+	86	10898	c.10863G>T	c.(10861-10863)CAG>CAT	p.Q3621H	NBPF9_uc010oye.1_Missense_Mutation_p.Q905H|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Missense_Mutation_p.Q474H|NBPF10_uc010oyk.1_Missense_Mutation_p.Q262H|NBPF10_uc010oyl.1_Missense_Mutation_p.Q262H	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3546											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGTGTTCCAGATGGGAGTCA	0.448			NA											112	488					2.34756e-62	3.89351e-62	0.00361	1	0
HRNR	388697	broad.mit.edu	37	1	152193005	152193005	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:152193005C>T	uc001ezt.1	-	3	1176	c.1100G>A	c.(1099-1101)GGC>GAC	p.G367D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	367	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTGAGCCAGAACCATG	0.552			NA											15	198					0	0	0.00499	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987882	154987882	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:154987882G>A	uc001fgk.3	+	3	904	c.746G>A	c.(745-747)GGG>GAG	p.G249E	ZBTB7B_uc009wpa.2_Missense_Mutation_p.G249E|ZBTB7B_uc001fgj.3_Missense_Mutation_p.G283E|ZBTB7B_uc010peq.1_Missense_Mutation_p.G283E|ZBTB7B_uc001fgl.3_Missense_Mutation_p.G249E	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	249					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGGCAGTGGGCCGGGGGAC	0.647			NA											8	18					0	0	0.004482	0	0
FDPS	2224	broad.mit.edu	37	1	155290372	155290372	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:155290372C>T	uc001fkc.2	+	11	1451	c.1232C>T	c.(1231-1233)GCG>GTG	p.A411V	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.A345V|FDPS_uc001fke.2_Missense_Mutation_p.A411V|FDPS_uc001fkf.2_Missense_Mutation_p.A345V|C1orf104_uc001fkh.1_Intron|C1orf104_uc001fki.2_3'UTR|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	411					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGGGGCTTGCGCGCAAAATC	0.502			NA											15	48					0	0	0.004007	0	0
IGSF9	57549	broad.mit.edu	37	1	159900488	159900488	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:159900488G>A	uc001fur.2	-	14	2005	c.1807C>T	c.(1807-1809)CCG>TCG	p.P603S	IGSF9_uc001fuq.2_Missense_Mutation_p.P587S|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	603	Fibronectin type-III 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACCTTCCGGAGCAGACAAG	0.607			NA											4	93					0	0	0.000248	0	0
NCF2	4688	broad.mit.edu	37	1	183525357	183525357	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:183525357C>T	uc001gqj.3	-	15	1752	c.1477G>A	c.(1477-1479)GAA>AAA	p.E493K	NCF2_uc010pod.1_Missense_Mutation_p.E448K|NCF2_uc010poe.1_Missense_Mutation_p.E412K|NCF2_uc001gqk.3_Missense_Mutation_p.E493K	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	493	SH3 2.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						TCCAGCCATTCTTCATTCACT	0.428			NA											9	118					0	0	0.006214	0	0
USH2A	7399	broad.mit.edu	37	1	216496918	216496918	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:216496918G>A	uc001hku.1	-	8	1835	c.1448C>T	c.(1447-1449)ACG>ATG	p.T483M	USH2A_uc001hkv.2_Missense_Mutation_p.T483M	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	483	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTATTTGCGTGGCTTTTAC	0.413			NA								HNSCC(13;0.011)			8	163					0	0	0.004482	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24889824	24889824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr10:24889824C>A	uc001isb.2	-	14	3370	c.2883G>T	c.(2881-2883)ATG>ATT	p.M961I	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.M961I|ARHGAP21_uc010qdc.1_Missense_Mutation_p.M796I	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	960	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						GGACAACATACATCTGTTTCC	0.428			NA											11	128					4.68919e-08	6.85731e-08	0.008291	1	0
SBF2	81846	broad.mit.edu	37	11	9834135	9834135	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:9834135T>C	uc001mib.2	-	30	4237	c.4099A>G	c.(4099-4101)ACT>GCT	p.T1367A	SBF2_uc001mid.2_Missense_Mutation_p.T11A	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1367	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTGAGTCAGTAGGGATGGTG	0.428			NA											38	151					0	0	0.003755	0	0
KCNA4	3739	broad.mit.edu	37	11	30032876	30032876	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:30032876T>C	uc001msk.2	-	2	2502	c.1350A>G	c.(1348-1350)CGA>CGG	p.R450R		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	450	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCCGGAATACTCGGACCAGAC	0.582			NA											14	68					0	0	0.00245	0	0
OR4C6	219432	broad.mit.edu	37	11	55432857	55432857	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:55432857C>T	uc001nht.3	+	3	480	c.215C>T	c.(214-216)TCA>TTA	p.S72L	OR4C6_uc010rik.1_Missense_Mutation_p.S72L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GTCATGTTCTCATCTGTCGTT	0.433			NA											6	173					0	0	0.001168	0	0
ZFP91	80829	broad.mit.edu	37	11	58378451	58378451	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:58378451G>A	uc001nmx.3	+	5	814	c.646G>A	c.(646-648)GAG>AAG	p.E216K	ZFP91_uc001nmy.3_Missense_Mutation_p.E215K|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	216	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGAGGAAGAAGAGATGTTAAT	0.383			NA											3	82					0	0	0.000248	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723154	58723154	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:58723154G>A	uc001nnf.2	+	8	939	c.563G>A	c.(562-564)CGA>CAA	p.R188Q	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.R219Q|GLYATL1_uc001nni.1_Missense_Mutation_p.R188Q|GLYATL1_uc001nnj.1_Missense_Mutation_p.R188Q			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	188						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	AACTGGAAGCGAGGGAAGAAT	0.498			NA											21	47					0	0	0.002299	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744846	62744846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:62744846C>A	uc001nwk.2	-	9	1682	c.1375G>T	c.(1375-1377)GGA>TGA	p.G459*	SLC22A6_uc001nwl.2_Intron|SLC22A6_uc001nwj.2_Nonsense_Mutation_p.G459*|SLC22A6_uc001nwm.2_Intron	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	459	Helical; (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						CTGCCCATTCCCATGCCTGTC	0.612			NA											3	18					0.004672	0.00616885	0.004672	1	0
EXPH5	23086	broad.mit.edu	37	11	108380300	108380300	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:108380300G>C	uc001pkk.2	-	6	6045	c.5934C>G	c.(5932-5934)TAC>TAG	p.Y1978*	EXPH5_uc010rvy.1_Nonsense_Mutation_p.Y1790*|EXPH5_uc010rvz.1_Nonsense_Mutation_p.Y1822*|EXPH5_uc010rwa.1_Nonsense_Mutation_p.Y1902*	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1978					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCAGGTAGTATTCATCAT	0.383			NA											6	254					0	0	0.001984	0	0
AQP2	359	broad.mit.edu	37	12	50344816	50344816	+	Missense_Mutation	SNP	A	A	C	rs104894331		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr12:50344816A>C	uc001rvn.2	+	1	293	c.203A>C	c.(202-204)AAC>ACC	p.N68T		NM_000486	NP_000477	P41181	AQP2_HUMAN	aquaporin 2	68	Cytoplasmic (Potential).|NPA 1.		N -> S (in ANDI).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			ovary(2)	2						GCCCACATCAACCCTGCCGTG	0.662			NA											10	31					0	0	0.003954	0	0
ZMYM5	9205	broad.mit.edu	37	13	20411811	20411811	+	Silent	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:20411811A>G	uc010tcn.1	-	6	1288	c.1023T>C	c.(1021-1023)TGT>TGC	p.C341C	ZMYM5_uc001umm.1_Silent_p.C165C|ZMYM5_uc001umn.2_Silent_p.C341C|ZMYM5_uc001umo.2_3'UTR	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	341	MYM-type 2.					nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTAATTTACTACAAATTGTAC	0.299			NA											42	35					0	0	0.002522	0	0
KATNAL1	84056	broad.mit.edu	37	13	30829613	30829613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:30829613C>A	uc001uss.2	-	4	564	c.463G>T	c.(463-465)GAC>TAC	p.D155Y	KATNAL1_uc001ust.2_Missense_Mutation_p.D155Y	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	155						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTCTATAGTCCTTGTCCCTA	0.463			NA											114	266					2.19568e-55	3.59774e-55	0.00361	1	0
UGGT2	55757	broad.mit.edu	37	13	96579553	96579553	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:96579553A>G	uc001vmt.2	-	18	2185	c.2015T>C	c.(2014-2016)CTA>CCA	p.L672P		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	672					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						CCTATCCATTAGAAAATCAAT	0.294			NA											29	31					0	0	0.00632	0	0
PSEN1	5663	broad.mit.edu	37	14	73659504	73659504	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr14:73659504C>A	uc001xnr.2	+	7	985	c.701C>A	c.(700-702)GCC>GAC	p.A234D	PSEN1_uc001xnv.2_Missense_Mutation_p.A230D|PSEN1_uc010ark.2_Missense_Mutation_p.A230D|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	234	Helical; (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		GCCCTCATGGCCCTGGTGTTT	0.448			NA											9	172					1.76689e-08	2.64063e-08	0.006214	1	0
ADAM6	8755	broad.mit.edu	37	14	106993798	106993798	+	Splice_Site	SNP	C	C	T	rs7146961	by1000genomes	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr14:106993798C>T	uc010tyt.1	-	187		c.8648_splice	c.e187+1							Parts of antibodies, mostly variable regions.												0						TCACACTGACCTCCCCTCACT	0.587			NA											9	357					0	0	0.008291	0	0
VPS13C	54832	broad.mit.edu	37	15	62333557	62333557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr15:62333557C>G	uc002agz.2	-	3	227	c.153G>C	c.(151-153)TTG>TTC	p.L51F	VPS13C_uc002aha.2_Missense_Mutation_p.L51F|VPS13C_uc002ahb.1_Missense_Mutation_p.L51F|VPS13C_uc002ahc.1_Missense_Mutation_p.L51F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	51					protein localization					ovary(2)	2						AAGGAACATCCAATTCACTCT	0.318			NA											16	49					0	0	0.007413	0	0
BLM	641	broad.mit.edu	37	15	91341436	91341436	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr15:91341436A>G	uc002bpr.2	+	17	3324	c.3227A>G	c.(3226-3228)GAT>GGT	p.D1076G	BLM_uc010uqh.1_Missense_Mutation_p.D1076G|BLM_uc010uqi.1_Missense_Mutation_p.D701G|BLM_uc010bnx.2_Missense_Mutation_p.D1076G|BLM_uc002bpt.2_Missense_Mutation_p.D51G	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1076					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAAACAAGAGATGTGACTGAC	0.294			NA	Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				7	57					0	0	0.001984	0	0
XYLT1	64131	broad.mit.edu	37	16	17294482	17294482	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr16:17294482C>T	uc002dfa.2	-	4	1028	c.943G>A	c.(943-945)GAG>AAG	p.E315K		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	315	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						ACGGAGTCCTCGTCCCACTGC	0.572			NA											7	222					0	0	0.00308	0	0
MVP	9961	broad.mit.edu	37	16	29856130	29856130	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr16:29856130C>T	uc002dui.2	+	11	2035	c.1951C>T	c.(1951-1953)CGG>TGG	p.R651W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R651W|MVP_uc010vea.1_Missense_Mutation_p.R245W	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	651					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						TCAGAGGACCCGGGACGCCCT	0.662			NA											8	143					0	0	0.004482	0	0
TP53	7157	broad.mit.edu	37	17	7578427	7578427	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:7578427T>A	uc002gim.2	-	5	697	c.503A>T	c.(502-504)CAC>CTC	p.H168L	TP53_uc002gig.1_Missense_Mutation_p.H168L|TP53_uc002gih.2_Missense_Mutation_p.H168L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H36L|TP53_uc010cng.1_Missense_Mutation_p.H36L|TP53_uc002gii.1_Missense_Mutation_p.H36L|TP53_uc010cnh.1_Missense_Mutation_p.H168L|TP53_uc010cni.1_Missense_Mutation_p.H168L|TP53_uc002gij.2_Missense_Mutation_p.H168L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H75L|TP53_uc002gio.2_Missense_Mutation_p.H36L|TP53_uc010vug.1_Missense_Mutation_p.H129L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	168	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		QH -> HD (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H168R(12)|p.H168P(9)|p.H168Y(9)|p.0?(7)|p.H168L(5)|p.H168H(4)|p.H168fs*2(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.H168fs*5(1)|p.H168Q(1)|p.H168fs*69(1)|p.Q167fs*12(1)|p.H168D(1)|p.Q167_H168>HD(1)|p.H168N(1)|p.Q167_H168>YL(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(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)		CTCCGTCATGTGCTGTGACTG	0.652	Pancreas(47;798 1329 9957 10801)		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-Fraumensyndrome|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)			5	43					0	0	0.001168	0	0
ALOXE3	59344	broad.mit.edu	37	17	8006764	8006764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:8006764C>A	uc010cnr.2	-	15	2203	c.1833G>T	c.(1831-1833)CAG>CAT	p.Q611H	ALOXE3_uc002gka.2_Missense_Mutation_p.Q767H|ALOXE3_uc010vuo.1_Missense_Mutation_p.Q743H	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	611	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						GGGGTGGGGGCTGCCTCATGG	0.577			NA											5	58					0.000602214	0.000810903	0.000602	1	0
C17orf68	80169	broad.mit.edu	37	17	8138437	8138437	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:8138437C>A	uc002gkq.3	-	8	1432	c.1373G>T	c.(1372-1374)TGG>TTG	p.W458L	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	458					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						CTGACGTTCCCACACCAGCTG	0.642			NA											13	52					0.000219431	0.000298427	0.00245	1	0
NF1	4763	broad.mit.edu	37	17	29490291	29490291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:29490291G>T	uc002hgg.2	+	4	709	c.376G>T	c.(376-378)GAA>TAA	p.E126*	NF1_uc002hge.1_Nonsense_Mutation_p.E126*|NF1_uc002hgf.1_Nonsense_Mutation_p.E126*|NF1_uc002hgh.2_Nonsense_Mutation_p.E126*|NF1_uc010csn.1_Silent_p.V21V	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	126					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(5)|p.?(4)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACCTGTCGTGAAGGAAACCA	0.423			NA	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			33	45					2.68265e-12	4.19508e-12	0.002836	1	0
KRTAP3-2	83897	broad.mit.edu	37	17	39155965	39155965	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:39155965G>A	uc002hvs.2	-	1	174	c.141C>T	c.(139-141)TGC>TGT	p.C47C		NM_031959	NP_114165	Q9BYR7	KRA32_HUMAN	keratin associated protein 3.2	47	2.|3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity				0		Breast(137;0.00043)				AGTTGTCACAGCAGATGGGCT	0.632			NA											8	100					0	0	0.00308	0	0
MOCOS	55034	broad.mit.edu	37	18	33775220	33775220	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr18:33775220G>A	uc002kzq.3	+	2	166	c.143G>A	c.(142-144)GGA>GAA	p.G48E		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	48					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	TTTCTTTCAGGAACTGTCTAT	0.348			NA											9	114					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9089879	9089879	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:9089879C>T	uc002mkp.2	-	1	2140	c.1936G>A	c.(1936-1938)GGT>AGT	p.G646S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	646	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACTGGGACACCGTTCGTGGCC	0.562			NA											10	149					0	0	0.000978	0	0
ICAM1	3383	broad.mit.edu	37	19	10395637	10395637	+	Silent	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:10395637C>G	uc002mnq.2	+	6	1678	c.1359C>G	c.(1357-1359)GGC>GGG	p.G453G	ICAM1_uc010xle.1_Silent_p.G231G|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	453	Extracellular (Potential).|Ig-like C2-type 5.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	ATCTTGAGGGCACCTACCTCT	0.612			NA											8	31					0	0	0.006214	0	0
FBXW9	84261	broad.mit.edu	37	19	12807331	12807331	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:12807331G>A	uc010dyx.2	-	1	65	c.65C>T	c.(64-66)TCA>TTA	p.S22L	FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.S22L|FBXW9_uc002mun.1_5'UTR	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	22							protein binding			ovary(1)	1						GTCTGTCTCTGACTCTGGGTC	0.667			NA											19	48					0	0	0.008871	0	0
MYO9B	4650	broad.mit.edu	37	19	17213241	17213241	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:17213241G>A	uc010eak.2	+	2	866	c.714G>A	c.(712-714)TCG>TCA	p.S238S	MYO9B_uc002nfi.2_Silent_p.S238S|MYO9B_uc002nfj.1_Silent_p.S238S	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	238	Myosin head-like.			IS -> YP (in Ref. 1; AAC50402).	actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						TCGTGATCTCGGGTGAGAGCG	0.642			NA											7	69					0	0	0.001984	0	0
PEG3	5178	broad.mit.edu	37	19	57325604	57325604	+	Silent	SNP	G	G	A	rs141987198	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:57325604G>A	uc002qnu.2	-	7	4557	c.4206C>T	c.(4204-4206)GCC>GCT	p.A1402A	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.A1373A|PEG3_uc002qnv.2_Silent_p.A1402A|PEG3_uc002qnw.2_Silent_p.A1278A|PEG3_uc002qnx.2_Silent_p.A1276A|PEG3_uc010etr.2_Silent_p.A1402A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1402	Glu-rich.|2-1.|3 X 7 AA repeat of P-E-V-E-A-A-E.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTGGCTCGGCAGCCTCCA	0.552			NA											15	102					0	0	0.007413	0	0
AUP1	550	broad.mit.edu	37	2	74755112	74755112	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:74755112G>A	uc010yrx.1	-	6	990	c.864C>T	c.(862-864)CGC>CGT	p.R288R	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'UTR|AUP1_uc002smf.2_Silent_p.R231R|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Silent_p.R140R|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	297	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						CCCCTAGTTGGCGATGAACAG	0.567			NA											43	122					0	0	0.002852	0	0
REG3A	5068	broad.mit.edu	37	2	79384709	79384709	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:79384709G>A	uc002sod.1	-	4	704	c.449C>T	c.(448-450)TCG>TTG	p.S150L	REG3A_uc002soe.1_Missense_Mutation_p.S150L|REG3A_uc002sof.1_Missense_Mutation_p.S150L	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	150	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1						TGTGCTTCTCGACAGGCTCGC	0.527			NA											29	93					0	0	0.007291	0	0
MRPS5	64969	broad.mit.edu	37	2	95774073	95774073	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:95774073T>G	uc002sub.2	-	5	702	c.484A>C	c.(484-486)AAG>CAG	p.K162Q	MRPS5_uc002suc.2_RNA|MRPS5_uc010yud.1_Missense_Mutation_p.K162Q	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	162					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3						TGCTCTTCCTTGCTTCTTTGG	0.478			NA											43	150					0	0	0.00361	0	0
VWA3B	200403	broad.mit.edu	37	2	98916570	98916570	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:98916570T>C	uc002syo.2	+	25	3575	c.3311T>C	c.(3310-3312)GTG>GCG	p.V1104A	VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.V761A|VWA3B_uc002syp.1_Missense_Mutation_p.V496A|VWA3B_uc002syq.1_Missense_Mutation_p.V380A|VWA3B_uc002syr.1_Missense_Mutation_p.V421A|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1104										ovary(3)|large_intestine(2)|skin(1)	6						GCCAAAATTGTGATACCCAAA	0.373			NA											42	192					0	0	0.003214	0	0
DPP10	57628	broad.mit.edu	37	2	116534783	116534783	+	Splice_Site	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:116534783G>A	uc002tla.1	+	14	1679	c.1222_splice	c.e14-1	p.S408_splice	DPP10_uc002tlb.1_Splice_Site_p.S358_splice|DPP10_uc002tlc.1_Splice_Site_p.S404_splice|DPP10_uc002tle.2_Splice_Site_p.S412_splice|DPP10_uc002tlf.1_Splice_Site_p.S401_splice	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						TTTCTTTGCAGAGTAAAAGTG	0.368			NA											3	40					0	0	0.004672	0	0
UGGT1	56886	broad.mit.edu	37	2	128867293	128867293	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:128867293A>G	uc002tps.2	+	5	672	c.494A>G	c.(493-495)GAG>GGG	p.E165G	UGGT1_uc010fme.1_Missense_Mutation_p.E40G|UGGT1_uc002tpr.2_Missense_Mutation_p.E141G	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	165					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						GATACCCTTGAGGCTCTTCTA	0.408			NA											3	98					0	0	0.000248	0	0
LY75	4065	broad.mit.edu	37	2	160734964	160734964	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:160734964C>T	uc002ubc.3	-	11	1714	c.1645G>A	c.(1645-1647)GAT>AAT	p.D549N	LY75_uc002ubb.3_Missense_Mutation_p.D549N|LY75_uc010fos.2_Missense_Mutation_p.D549N|LY75_uc010fot.1_Missense_Mutation_p.D549N	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	549	Extracellular (Potential).|C-type lectin 3.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		AGAGATTTATCATACTTTTTC	0.378			NA											5	89					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179596231	179596231	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:179596231C>G	uc010zfg.1	-	56	13754	c.13530G>C	c.(13528-13530)AAG>AAC	p.K4510N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1171N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5437							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)			GCAAGGAGCCCTTCAGAGTGG	0.473			NA											16	38					0	0	0.004007	0	0
ITGAV	3685	broad.mit.edu	37	2	187529903	187529903	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:187529903G>T	uc002upq.2	+	21	2400	c.2124G>T	c.(2122-2124)CAG>CAT	p.Q708H	ITGAV_uc010frs.2_Missense_Mutation_p.Q672H|ITGAV_uc010zfv.1_Missense_Mutation_p.Q662H	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	708	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		AAACTCGCCAGGTGGTATGTG	0.358	Melanoma(58;108 1995 6081)		NA											5	51					3.59834e-05	4.99361e-05	0.001168	1	0
CXCR2	3579	broad.mit.edu	37	2	218999975	218999975	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:218999975G>A	uc002vgz.1	+	4	676	c.451G>A	c.(451-453)GCC>ACC	p.A151T	CXCR2_uc002vha.1_Missense_Mutation_p.A151T|CXCR2_uc002vhb.1_Missense_Mutation_p.A151T	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	151	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						CATTGTCCATGCCACACGCAC	0.537			NA											8	71					0	0	0.006214	0	0
PTPRN	5798	broad.mit.edu	37	2	220167372	220167372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:220167372G>T	uc002vkz.2	-	5	654	c.565C>A	c.(565-567)CTG>ATG	p.L189M	PTPRN_uc010zlc.1_Missense_Mutation_p.L99M|PTPRN_uc002vla.2_Missense_Mutation_p.L189M	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	189	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGGGGCAGCAGCAGGTGCTCC	0.632			NA											9	53					1.08611e-07	1.57139e-07	0.000978	1	0
FRG1B	284802	broad.mit.edu	37	20	29628296	29628296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr20:29628296A>T	uc010ztl.1	+	3	240	c.208A>T	c.(208-210)AAA>TAA	p.K70*	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Nonsense_Mutation_p.K22*					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						CATAGAAGCAAAAAGTAAAAC	0.363			NA											4	50					0	0	0.000602	0	0
MYT1	4661	broad.mit.edu	37	20	62854714	62854714	+	Splice_Site	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr20:62854714T>C	uc002yii.2	+	16	2892	c.2528_splice	c.e16+2	p.K843_splice	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Splice_Site_p.K502_splice	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGACCTCAAGTATGTTTGCGC	0.552	GBM(59;481 1041 20555 21139 33705)		NA											127	166					0	0	0.00361	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021597	46021597	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr21:46021597G>T	uc002zfn.3	+	2	1086	c.1061G>T	c.(1060-1062)TGC>TTC	p.C354F	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	359	30 X 5 AA repeats of C-C-X(3).					keratin filament					0						CGCCCCGCATGCTCCCGCCCA	0.662			NA											12	43					2.68362e-12	4.19508e-12	0.001368	1	0
TTLL3	26140	broad.mit.edu	37	3	9867508	9867508	+	Silent	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr3:9867508C>A	uc003btg.2	+	8	966	c.750C>A	c.(748-750)CTC>CTA	p.L250L	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Silent_p.L217L|TTLL3_uc003btf.3_Silent_p.L38L|TTLL3_uc010hco.1_Silent_p.L186L|TTLL3_uc003bth.3_Silent_p.L38L|TTLL3_uc011atj.1_Silent_p.L186L|TTLL3_uc003btj.3_Silent_p.L38L|TTLL3_uc003bti.3_Silent_p.L38L|TTLL3_uc003btk.2_Silent_p.L53L	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	250	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					TCAGGCACCTCGACACTCAGG	0.587			NA											14	45					3.27435e-08	4.84035e-08	0.00245	1	0
KAT2B	8850	broad.mit.edu	37	3	20082268	20082268	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr3:20082268G>A	uc003cbq.2	+	1	745	c.299G>A	c.(298-300)TGC>TAC	p.C100Y		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	100					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TACTCCGCCTGCAAGGTACGC	0.557			NA											9	30					0	0	0.004482	0	0
RFC1	5981	broad.mit.edu	37	4	39291651	39291651	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:39291651T>C	uc003gty.1	-	24	3314	c.3180A>G	c.(3178-3180)GCA>GCG	p.A1060A	RFC1_uc003gtx.1_Silent_p.A1059A	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	1060					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TTGTGAAGGCTGCTTTCACCT	0.438	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)		NA											47	164					0	0	0.00361	0	0
GABRA2	2555	broad.mit.edu	37	4	46252531	46252531	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:46252531G>T	uc003gxc.3	-	9	1823	c.1150C>A	c.(1150-1152)CTC>ATC	p.L384I	GABRA2_uc010igc.2_Missense_Mutation_p.L384I|GABRA2_uc011bzc.1_Missense_Mutation_p.L389I	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	384	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGGTGGAGAGAACTGGATCT	0.418			NA											81	308					9.90312e-32	1.60336e-31	0.00361	1	0
GABRA4	2557	broad.mit.edu	37	4	46930366	46930366	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:46930366C>T	uc003gxg.2	-	9	1680	c.1541G>A	c.(1540-1542)GGC>GAC	p.G514D		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	514	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTACTTGTGCCAGATCCAGA	0.433	Ovarian(6;283 369 8234 12290 33402)		NA											41	173					0	0	0.00361	0	0
TEC	7006	broad.mit.edu	37	4	48151596	48151596	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:48151596T>A	uc003gxz.2	-	11	1075	c.984A>T	c.(982-984)GAA>GAT	p.E328D		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	328	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						GCTTATGATATTCAATAATCT	0.353			NA											21	72					0	0	0.00333	0	0
YTHDC1	91746	broad.mit.edu	37	4	69182124	69182124	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:69182124A>T	uc003hdx.2	-	16	2220	c.1867T>A	c.(1867-1869)TAT>AAT	p.Y623N	YTHDC1_uc003hdy.2_Missense_Mutation_p.Y605N	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	623	Pro-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						TGGTGCTGATAGTAAGGATGG	0.448			NA											54	191					0	0	0.00361	0	0
IBSP	3381	broad.mit.edu	37	4	88732809	88732809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:88732809G>T	uc003hqx.3	+	7	799	c.701G>T	c.(700-702)GGG>GTG	p.G234V		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	234					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CCAAATGGTGGGTTTGAACCT	0.532			NA											9	39					7.48243e-07	1.06001e-06	0.006214	1	0
CDH18	1016	broad.mit.edu	37	5	19612631	19612631	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:19612631C>A	uc003jgc.2	-	5	1100	c.723G>T	c.(721-723)ATG>ATT	p.M241I	CDH18_uc003jgd.2_Missense_Mutation_p.M241I|CDH18_uc011cnm.1_Missense_Mutation_p.M241I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	241	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTGCCCAGCCATGTCTTTGG	0.418			NA											26	88					6.36457e-07	9.11139e-07	0.003954	1	0
CDH9	1007	broad.mit.edu	37	5	26903797	26903797	+	Missense_Mutation	SNP	G	G	T	rs143973229		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:26903797G>T	uc003jgs.1	-	6	1117	c.948C>A	c.(946-948)TTC>TTA	p.F316L	CDH9_uc010iug.2_Missense_Mutation_p.F316L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	316	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TGATGACATCGAACATGTCTG	0.408	Melanoma(8;187 585 15745 40864 52829)		NA											18	326					8.00594e-06	1.12248e-05	0.007413	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33546240	33546240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:33546240C>T	uc003jia.1	-	22	4533	c.4370G>A	c.(4369-4371)TGG>TAG	p.W1457*	ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.W1372*	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1457	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TCTTTTTGTCCAATCACAGAG	0.502			NA								HNSCC(64;0.19)			41	65					0	0	0.002222	0	0
FBXO4	26272	broad.mit.edu	37	5	41934094	41934094	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:41934094C>T	uc003jmq.2	+	4	749	c.693C>T	c.(691-693)TTC>TTT	p.F231F	FBXO4_uc003jmp.2_Silent_p.F231F|FBXO4_uc003jmr.2_Silent_p.F231F	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	231					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AACATAAATTCAACATTCTAA	0.328			NA											33	72					0	0	0.004289	0	0
CWC27	10283	broad.mit.edu	37	5	64070566	64070566	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:64070566A>G	uc003jtn.1	+	2	310	c.91A>G	c.(91-93)AAA>GAA	p.K31E	CWC27_uc003jtl.2_Missense_Mutation_p.K31E|CWC27_uc003jtm.2_Missense_Mutation_p.K31E|CWC27_uc010iwt.1_Missense_Mutation_p.K31E	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	31	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0						GTTGTGGTCCAAAGAAGCTCC	0.274			NA											36	133					0	0	0.004878	0	0
SPATA9	83890	broad.mit.edu	37	5	95011208	95011208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:95011208G>A	uc003klj.1	-	3	442	c.286C>T	c.(286-288)CAG>TAG	p.Q96*	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	96					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CATGCAAGCTGAGGATGCAGA	0.443			NA											8	97					0	0	0.00308	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782870	140782870	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:140782870C>T	uc003lkh.1	+	1	351	c.351C>T	c.(349-351)TAC>TAT	p.Y117Y	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_uc011dax.1_Silent_p.Y117Y	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	117	Cadherin 1.|Extracellular (Potential).				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)			TGAAACTGTACGGAATAGAAA	0.498			NA											14	101					0	0	0.001855	0	0
AEBP1	165	broad.mit.edu	37	7	44149709	44149709	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr7:44149709C>T	uc003tkb.2	+	10	1551	c.1246C>T	c.(1246-1248)CGG>TGG	p.R416W	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	416	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACAGCGCGGCCGGCTCAACAT	0.652			NA											10	53					0	0	0.008291	0	0
TBL2	26608	broad.mit.edu	37	7	72985560	72985560	+	Silent	SNP	G	G	T	rs150420769		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr7:72985560G>T	uc003tyh.2	-	6	971	c.837C>A	c.(835-837)TCC>TCA	p.S279S	TBL2_uc011kex.1_Silent_p.S243S|TBL2_uc010lbg.2_Silent_p.S184S|TBL2_uc003tyi.2_Silent_p.S114S|TBL2_uc011key.1_Silent_p.S150S|TBL2_uc010lbh.2_Silent_p.S184S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	279	WD 5.										0		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCACAGCCGCGGAGTGGCCCT	0.572			NA											6	66					0.000157383	0.000216203	0.00308	1	0
CSMD3	114788	broad.mit.edu	37	8	113323388	113323388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr8:113323388G>T	uc003ynu.2	-	50	7863	c.7704C>A	c.(7702-7704)TAC>TAA	p.Y2568*	CSMD3_uc003yns.2_Nonsense_Mutation_p.Y1770*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y2528*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y2464*|CSMD3_uc003ynw.1_Nonsense_Mutation_p.Y279*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2568	Extracellular (Potential).|Sushi 14.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GTGTACTACAGTAGAAAGCTT	0.398			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	58					2.39556e-15	3.8329e-15	0.00278	1	0
TAF2	6873	broad.mit.edu	37	8	120816177	120816177	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr8:120816177C>T	uc003you.2	-	5	771	c.501G>A	c.(499-501)GAG>GAA	p.E167E		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	167					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCATACTTCCCTCTACACTGG	0.343			NA											11	235					0	0	0.001368	0	0
MPDZ	8777	broad.mit.edu	37	9	13162689	13162689	+	Splice_Site	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:13162689C>A	uc010mia.1	-	22	3416	c.3359_splice	c.e22+1	p.R1120_splice	MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Splice_Site_p.R12_splice|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Splice_Site_p.R1120_splice|MPDZ_uc010mhz.2_Splice_Site_p.R1120_splice|MPDZ_uc011lmn.1_Splice_Site_p.R1120_splice|MPDZ_uc003zlb.3_Splice_Site_p.R1120_splice	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein						interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GTTTCACTTACCTGCCAGTGT	0.378			NA											15	53					4.14922e-12	6.41243e-12	0.004007	1	0
VPS13A	23230	broad.mit.edu	37	9	79946930	79946930	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:79946930G>A	uc004akr.2	+	46	6256	c.5996G>A	c.(5995-5997)AGA>AAA	p.R1999K	VPS13A_uc004akp.3_Missense_Mutation_p.R1999K|VPS13A_uc004akq.3_Missense_Mutation_p.R1999K|VPS13A_uc004aks.2_Missense_Mutation_p.R1960K|VPS13A_uc004akt.2_Missense_Mutation_p.R339K	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1999					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TCCCAGATAAGAAATCATTTT	0.323			NA											5	189					0	0	0.000602	0	0
TNC	3371	broad.mit.edu	37	9	117791710	117791710	+	Missense_Mutation	SNP	C	C	A	rs112853515		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:117791710C>A	uc004bjj.3	-	25	6460	c.6098G>T	c.(6097-6099)CGC>CTC	p.R2033L	TNC_uc010mvf.2_Missense_Mutation_p.R1760L	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	2033	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GAAGTTCTCGCGTCCGTTTTT	0.388			NA											26	116					4.22769e-11	6.4603e-11	0.00632	1	0
PSMD5	5711	broad.mit.edu	37	9	123593720	123593720	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:123593720T>C	uc004bko.2	-	4	469	c.450A>G	c.(448-450)TCA>TCG	p.S150S	PSMD5_uc011lye.1_Intron	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	proteasome 26S non-ATPase subunit 5	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding				0						GTGATATTCTTGACAGGGATT	0.338			NA											4	116					0	0	0.000602	0	0
AIF1L	83543	broad.mit.edu	37	9	133987029	133987029	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:133987029G>A	uc004cab.1	+	3	244	c.139G>A	c.(139-141)GAA>AAA	p.E47K	AIF1L_uc004cad.1_Missense_Mutation_p.E73K|AIF1L_uc004cae.1_Missense_Mutation_p.E47K|AIF1L_uc004cac.1_RNA|AIF1L_uc011mce.1_Missense_Mutation_p.E52K	NM_031426	NP_113614	Q9BQI0	AIF1L_HUMAN	ionized calcium binding adapter molecule 2	47	EF-hand 1.					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding				0						GAACCTTCCAGAAAAGCTCAC	0.557	Esophageal Squamous(95;611 1423 5044 34794 42333)		NA											8	284					0	0	0.00308	0	0
KLHL4	56062	broad.mit.edu	37	X	86890732	86890732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:86890732C>T	uc004efb.2	+	9	2064	c.1882C>T	c.(1882-1884)CCT>TCT	p.P628S	KLHL4_uc004efa.2_Missense_Mutation_p.P628S	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	628	Kelch 5.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCATGATGCCCCTGCTTCCAA	0.408			NA											30	71					0	0	0.003271	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005352	102005352	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:102005352G>T	uc010nog.2	+	4	2000	c.1429G>T	c.(1429-1431)GCA>TCA	p.A477S	BHLHB9_uc011mrq.1_Missense_Mutation_p.A477S|BHLHB9_uc011mrr.1_Missense_Mutation_p.A477S|BHLHB9_uc011mrs.1_Missense_Mutation_p.A477S|BHLHB9_uc011mrt.1_Missense_Mutation_p.A477S|BHLHB9_uc004ejo.2_Missense_Mutation_p.A477S|BHLHB9_uc011mru.1_Missense_Mutation_p.A477S|BHLHB9_uc011mrv.1_Missense_Mutation_p.A477S	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	477						cytoplasm|nucleus	binding			ovary(2)	2						AAATCCAACTGCAGCCAGAGA	0.368			NA											21	268					4.35082e-09	6.57457e-09	0.001523	1	0
BCORL1	63035	broad.mit.edu	37	X	129171500	129171500	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:129171500C>T	uc004evb.1	+	9	4578	c.4464C>T	c.(4462-4464)GAC>GAT	p.D1488D	BCORL1_uc004evc.1_Silent_p.D324D	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1488	ANK 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GTGCGCAGGACGGCACGAGGC	0.607			NA											6	94					0	0	0.001168	0	0
SAGE1	55511	broad.mit.edu	37	X	134993792	134993792	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:134993792C>T	uc004ezh.2	+	18	2368	c.2201C>T	c.(2200-2202)CCT>CTT	p.P734L	SAGE1_uc010nry.1_Missense_Mutation_p.P703L|SAGE1_uc011mvv.1_Missense_Mutation_p.P358L	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	734										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GATCAAACCCCTCCTGATGGC	0.418			NA											65	214					0	0	0.00361	0	0
PNMA3	29944	broad.mit.edu	37	X	152226180	152226180	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:152226180C>T	uc004fhc.2	+	2	1104	c.768C>T	c.(766-768)GCC>GCT	p.A256A	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	256					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					tgtgtaaagcctatcaggagg	0			NA											8	231					0	0	0.00308	0	0
BCL9L	283149	broad.mit.edu	37	11	118770846	118770847	+	Frame_Shift_Ins	INS	-	-	C	rs139315833	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:118770846_118770847insC	uc001pug.2	-	7	4150_4151	c.3185_3186insG	c.(3184-3186)AGCfs	p.S1062fs	BCL9L_uc009zal.2_Frame_Shift_Ins_p.S1057fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1062	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCATGAGGCCGCTGGGAGGGTT	0.629			NA											24	92	---	---	---	---	NA	NA	NA	NA	NA
RB1	5925	broad.mit.edu	37	13	49030371	49030372	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:49030371_49030372insT	uc001vcb.2	+	19	2012_2013	c.1846_1847insT	c.(1846-1848)AAAfs	p.K616fs		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	616	Pocket; binds T and E1A.|Spacer.		K -> E (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(6)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCAAAGAAAAAAGGTTCAACT	0.381			6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			22	44	---	---	---	---	NA	NA	NA	NA	NA
HAUS3	79441	broad.mit.edu	37	4	2242244	2242246	+	In_Frame_Del	DEL	CTT	CTT	-	rs143139222		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:2242244_2242246delCTT	uc003ges.1	-	2	658_660	c.428_430delAAG	c.(427-432)GAAGCC>GCC	p.E143del	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_In_Frame_Del_p.E143del|HAUS3_uc003get.1_In_Frame_Del_p.E143del	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	143	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						TTTTTAGTGGCTTCTTCTTCTTT	0.286			NA											11	175	---	---	---	---	NA	NA	NA	NA	NA
TNC	3371	broad.mit.edu	37	9	117797539	117797539	+	Frame_Shift_Del	DEL	G	G	-	rs148674204	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:117797539delG	uc004bjj.3	-	22	6093	c.5731delC	c.(5731-5733)CGGfs	p.R1911fs	TNC_uc010mvf.2_Frame_Shift_Del_p.R1638fs	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						ACTGATGCCCGGGGGGGTCGC	0.478			NA											7	164	---	---	---	---	NA	NA	NA	NA	NA