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
PADI2	11240	broad.mit.edu	37	1	17405776	17405776	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:17405776G>A	uc001baf.2	-	11	1375	c.1293C>T	c.(1291-1293)ATC>ATT	p.I431I	PADI2_uc010ocm.1_Silent_p.I315I|PADI2_uc001bag.1_Silent_p.I431I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	431					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGCTGCTCCCGATGAGGATGC	0.572			NA											4	55					0	0	0.009096	0	0
CSF3R	1441	broad.mit.edu	37	1	36937240	36937240	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:36937240G>A	uc001caw.1	-	10	1257	c.1079C>T	c.(1078-1080)CCC>CTC	p.P360L	CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'UTR|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.P360L|CSF3R_uc001cax.1_Missense_Mutation_p.P360L|CSF3R_uc001cay.1_Missense_Mutation_p.P360L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	360	Extracellular (Potential).|Fibronectin type-III 3.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTCCTCCAGGGGCACTGGCTG	0.582			NA											7	101					0	0	0.00308	0	0
GRIK3	2899	broad.mit.edu	37	1	37271784	37271784	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:37271784G>A	uc001caz.2	-	14	2370	c.2235C>T	c.(2233-2235)TAC>TAT	p.Y745Y	GRIK3_uc001cba.1_Silent_p.Y745Y	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	745	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCTGCGTGACGTACTCGATGG	0.642			NA											10	81					0	0	0.013537	0	0
GRIK3	2899	broad.mit.edu	37	1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:37324731C>T	uc001caz.2	-	7	1217	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H	GRIK3_uc001cba.1_Missense_Mutation_p.R361H	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTCATGAAGCGGCCGCCAAA	0.557			NA											17	58					0	0	0.006122	0	0
TIE1	7075	broad.mit.edu	37	1	43775179	43775179	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:43775179C>T	uc001ciu.2	+	9	1388	c.1309C>T	c.(1309-1311)CGG>TGG	p.R437W	TIE1_uc010okd.1_Missense_Mutation_p.R437W|TIE1_uc010oke.1_Missense_Mutation_p.R392W|TIE1_uc009vwq.2_Missense_Mutation_p.R393W|TIE1_uc010okf.1_Missense_Mutation_p.R82W|TIE1_uc010okg.1_Missense_Mutation_p.R82W|TIE1_uc010okc.1_3'UTR	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	437	Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAAGACAGCCGGCGCTTCAA	0.582			NA											8	33					0	0	0.004482	0	0
USP24	23358	broad.mit.edu	37	1	55604671	55604671	+	Silent	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:55604671A>T	uc001cyg.3	-	22	2283	c.2283T>A	c.(2281-2283)CTT>CTA	p.L761L		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	921					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						CAATTATTACAAGTTTAGTAG	0.219			NA											9	25					0	0	0.008291	0	0
VAV3	10451	broad.mit.edu	37	1	108185292	108185292	+	Silent	SNP	G	G	C	rs142820345		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:108185292G>C	uc001dvk.1	-	20	1917	c.1863C>G	c.(1861-1863)GCC>GCG	p.A621A	VAV3_uc010ouu.1_Silent_p.A25A|VAV3_uc001dvj.1_Silent_p.A61A|VAV3_uc010ouv.1_Silent_p.A25A|VAV3_uc010ouw.1_Silent_p.A621A	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	621	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CGGTATCCCCGGCCTGGAGCT	0.388			NA											44	71					0	0	0.01441	0	0
TMEM167B	56900	broad.mit.edu	37	1	109635561	109635561	+	Silent	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:109635561C>G	uc001dwn.2	+	2	152	c.60C>G	c.(58-60)ACC>ACG	p.T20T	TMEM167B_uc009weu.2_Intron	NM_020141	NP_064526	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B precursor	20						Golgi membrane|integral to membrane					0						TTGTTTGCACCTGTGCCTACT	0.448			NA											87	356					0	0	0.01441	0	0
SPAG17	200162	broad.mit.edu	37	1	118584635	118584635	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:118584635C>T	uc001ehk.2	-	21	2913	c.2845G>A	c.(2845-2847)GAA>AAA	p.E949K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	949	Potential.					cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGCTCCTCTTCTGCTAATCGA	0.378			NA											14	199					0	0	0.016723	0	0
TCHH	7062	broad.mit.edu	37	1	152084547	152084547	+	Silent	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:152084547C>T	uc001ezp.2	-	2	1146	c.1146G>A	c.(1144-1146)CAG>CAA	p.Q382Q	TCHH_uc009wne.1_Silent_p.Q382Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	382	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.|2-1.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgcgcctcagctgctgctcgc	0			NA											5	12					0	0	0.001168	0	0
RXRG	6258	broad.mit.edu	37	1	165370602	165370602	+	Silent	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:165370602G>T	uc001gda.2	-	10	1590	c.1290C>A	c.(1288-1290)GGC>GGA	p.G430G		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	430	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GGCATTTCAAGCCAATGGAAC	0.592			NA											4	90					0.00024832	0.000272665	0.009096	1	0
TPR	7175	broad.mit.edu	37	1	186322931	186322931	+	Silent	SNP	T	T	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:186322931T>G	uc001grv.2	-	18	2520	c.2223A>C	c.(2221-2223)TCA>TCC	p.S741S		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	741	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTCATGAAGTGATGTTATTT	0.353			NA	T	NTRK1	papillary thyroid								6	90					0	0	0.001168	0	0
ZNF281	23528	broad.mit.edu	37	1	200377574	200377574	+	Silent	SNP	G	G	A	rs149361792		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:200377574G>A	uc001gve.2	-	2	1367	c.1260C>T	c.(1258-1260)ACC>ACT	p.T420T	ZNF281_uc001gvf.1_Silent_p.T420T|ZNF281_uc001gvg.1_Silent_p.T384T	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	420					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TTGTTTTACCGGTCTTCTGTT	0.373			NA											6	116					0	0	0.001168	0	0
ZNF281	23528	broad.mit.edu	37	1	200377927	200377927	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:200377927G>T	uc001gve.2	-	2	1014	c.907C>A	c.(907-909)CTA>ATA	p.L303I	ZNF281_uc001gvf.1_Missense_Mutation_p.L303I|ZNF281_uc001gvg.1_Missense_Mutation_p.L267I	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	303	C2H2-type 2.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						CTCTGTAGTAGGTATTTCTGA	0.423			NA											8	180					5.18039e-06	6.04379e-06	0.00308	1	0
CENPF	1063	broad.mit.edu	37	1	214815962	214815962	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:214815962G>A	uc001hkm.2	+	12	4455	c.4281G>A	c.(4279-4281)CAG>CAA	p.Q1427Q		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCACTGTCAGATGAGCTCTA	0.378	Colon(80;575 1284 11000 14801 43496)		NA											4	39					0	0	0.009096	0	0
OR2T6	254879	broad.mit.edu	37	1	248551128	248551128	+	Nonsense_Mutation	SNP	C	C	A	rs61736241	byFrequency	TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:248551128C>A	uc001iei.1	+	1	219	c.219C>A	c.(217-219)TAC>TAA	p.Y73*		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACATTATACATCTCCACCA	0.498			NA											14	56					7.93312e-07	9.35273e-07	0.020292	1	0
CREM	1390	broad.mit.edu	37	10	35495854	35495854	+	Silent	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr10:35495854C>T	uc001iyb.2	+	7	792	c.630C>T	c.(628-630)ATC>ATT	p.I210I	CREM_uc001ixy.2_Silent_p.I6I|CREM_uc001ixz.2_Silent_p.I6I|CREM_uc001iya.2_Silent_p.I159I|CREM_uc001iyc.2_Silent_p.I131I|CREM_uc001iyd.2_Silent_p.I210I|CREM_uc001iye.2_Silent_p.I147I|CREM_uc001iyf.2_Silent_p.I180I|CREM_uc001iyg.2_Silent_p.I117I|CREM_uc001iyh.2_Silent_p.I155I|CREM_uc001iyi.2_Silent_p.I92I|CREM_uc001iyj.2_Silent_p.I89I|CREM_uc001iyk.2_Silent_p.I89I|CREM_uc001iyl.2_Silent_p.I31I|CREM_uc001iym.2_Silent_p.I31I|CREM_uc001iyn.2_Silent_p.I19I|CREM_uc001iyo.2_Silent_p.I19I|CREM_uc001iyp.2_Silent_p.I13I|CREM_uc001iyq.2_Silent_p.I23I|CREM_uc001iyr.2_Silent_p.I23I|CREM_uc001iys.2_Silent_p.I6I|CREM_uc001iyt.2_Silent_p.I6I	NM_181571	NP_853549	Q03060	CREM_HUMAN	cAMP responsive element modulator isoform a	271					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTTACCAGATCCGAGCTCCTA	0.458			NA											15	286					0	0	0.004007	0	0
C11orf16	56673	broad.mit.edu	37	11	8942930	8942930	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:8942930C>T	uc001mhb.3	-	6	1461	c.1337G>A	c.(1336-1338)GGG>GAG	p.G446E	C11orf16_uc001mhc.3_Intron	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	446										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TTCAGCTTCCCCTGGCGGGGT	0.522			NA											8	125					0	0	0.006214	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375118	65375118	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:65375118C>G	uc001oew.2	-	4	1732	c.1239G>C	c.(1237-1239)AAG>AAC	p.K413N	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.K156N|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	413	Leucine-zipper 1.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						GCACCTTTTCCTTGGCTCGCA	0.637			NA											22	29					0	0	0.01892	0	0
ACAT1	38	broad.mit.edu	37	11	108010912	108010912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:108010912G>T	uc001pjy.2	+	7	776	c.700G>T	c.(700-702)GAA>TAA	p.E234*	ACAT1_uc001pjx.2_Nonsense_Mutation_p.E108*	NM_000019	NP_000010	P24752	THIL_HUMAN	acetyl-Coenzyme A acetyltransferase 1 precursor	234					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			ovary(3)	3		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ATTTGGAAATGAAGTTATTCC	0.343			NA											6	94					8.12818e-05	9.10357e-05	0.001984	1	0
SCN3B	55800	broad.mit.edu	37	11	123508984	123508984	+	Missense_Mutation	SNP	A	A	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:123508984A>G	uc001pza.1	-	5	901	c.494T>C	c.(493-495)CTT>CCT	p.L165P	SCN3B_uc001pzb.1_Missense_Mutation_p.L165P	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN	voltage-gated sodium channel beta-3 subunit	165	Helical; (Potential).				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GAAGACCAGAAGGATGTACAT	0.463			NA											4	67					0	0	0.009096	0	0
ANO2	57101	broad.mit.edu	37	12	5685180	5685180	+	Missense_Mutation	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:5685180G>C	uc001qnm.2	-	24	2513	c.2441C>G	c.(2440-2442)GCT>GGT	p.A814G		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	819	Helical; (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						AATGACAAAAGCCTGAGGGAC	0.517			NA											2	7					0	0	0.004672	0	0
IRAK4	51135	broad.mit.edu	37	12	44180500	44180500	+	Silent	SNP	A	A	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:44180500A>G	uc001rnu.3	+	13	1495	c.1365A>G	c.(1363-1365)CAA>CAG	p.Q455Q	IRAK4_uc001rnt.3_Silent_p.Q455Q|IRAK4_uc001rnx.3_Silent_p.Q331Q|IRAK4_uc001rny.3_Silent_p.Q331Q|IRAK4_uc010sky.1_Silent_p.Q331Q|IRAK4_uc001rnv.3_Silent_p.Q331Q|IRAK4_uc001rnw.3_Silent_p.Q331Q	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	455					innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AGCTGCTGCAAGAGATGACAG	0.294			NA											4	85					0	0	0.014758	0	0
KDM2B	84678	broad.mit.edu	37	12	121881874	121881874	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:121881874C>T	uc001uat.2	-	16	2496	c.2392G>A	c.(2392-2394)GTG>ATG	p.V798M	KDM2B_uc001uaq.2_Missense_Mutation_p.V238M|KDM2B_uc010szy.1_Missense_Mutation_p.V238M|KDM2B_uc001uar.2_Missense_Mutation_p.V389M|KDM2B_uc001uas.2_Missense_Mutation_p.V767M|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.V46M|KDM2B_uc010szx.1_Missense_Mutation_p.V46M|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	798					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CTCAGGTGCACGTCGTCAGAC	0.642			NA									OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	59					0	0	0.01892	0	0
CEBPE	1053	broad.mit.edu	37	14	23586974	23586974	+	Missense_Mutation	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr14:23586974C>A	uc001wiv.1	-	2	742	c.568G>T	c.(568-570)GCT>TCT	p.A190S		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein epsilon	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AAGGGGCCAGCCGGGGAGGGC	0.662	NSCLC(63;1230 1818 14565 22565)		NA											4	103					3.59834e-05	4.11238e-05	0.001168	1	0
DHRS2	10202	broad.mit.edu	37	14	24108557	24108557	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr14:24108557G>T	uc001wkt.3	+	3	757	c.310G>T	c.(310-312)GTG>TTG	p.V104L	DHRS2_uc010aku.1_Missense_Mutation_p.V104L|DHRS2_uc001wku.3_Missense_Mutation_p.V104L|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.V104L	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	82					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		GGAGCAGCTGGTGGCCAAGGT	0.637			NA											4	24					0.00909568	0.00952071	0.009096	1	0
EGLN3	112399	broad.mit.edu	37	14	34398322	34398322	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr14:34398322G>A	uc001wsa.3	-	3	900	c.574C>T	c.(574-576)CGT>TGT	p.R192C	EGLN3_uc001wry.2_Missense_Mutation_p.R98C|EGLN3_uc001wrz.2_Missense_Mutation_p.R192C	NM_022073	NP_071356	Q9H6Z9	EGLN3_HUMAN	egl nine homolog 3	192	Fe2OG dioxygenase.				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding				0	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GGGTTCCTACGATCTGACCAG	0.507	Esophageal Squamous(161;245 1904 13895 22565 30076)		NA											8	81					0	0	0.004482	0	0
CHGA	1113	broad.mit.edu	37	14	93393922	93393922	+	Missense_Mutation	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr14:93393922A>T	uc001ybc.3	+	4	475	c.215A>T	c.(214-216)CAT>CTT	p.H72L	CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Missense_Mutation_p.H72L	NM_001275	NP_001266	P10645	CMGA_HUMAN	chromogranin A precursor	72					regulation of blood pressure	extracellular region|stored secretory granule				skin(2)	2		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		ATTCTGAGACATCAGAATTTA	0.433	Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)		NA											8	264					0	0	0.00308	0	0
TRIM72	493829	broad.mit.edu	37	16	31234266	31234266	+	Missense_Mutation	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr16:31234266G>C	uc002ebn.1	+	6	1088	c.859G>C	c.(859-861)GCG>CCG	p.A287P	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	287	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						TCTGATGCCAGGTACCGGGAG	0.602			NA											6	108					0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:7577090C>G	uc002gim.2	-	8	1042	c.848G>C	c.(847-849)CGC>CCC	p.R283P	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R283P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R151P|TP53_uc010cng.1_Missense_Mutation_p.R151P|TP53_uc002gii.1_Missense_Mutation_p.R151P|TP53_uc010cnh.1_Missense_Mutation_p.R283P|TP53_uc010cni.1_Missense_Mutation_p.R283P|TP53_uc002gij.2_Missense_Mutation_p.R283P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	283	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and 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.R283P(23)|p.R283C(18)|p.R283H(12)|p.0?(7)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R283G(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCTCTGTGCGCCGGTCTCT	0.562	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)			11	15					0	0	0.008291	0	0
MYH13	8735	broad.mit.edu	37	17	10248922	10248922	+	Silent	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:10248922C>T	uc002gmk.1	-	14	1365	c.1275G>A	c.(1273-1275)TCG>TCA	p.S425S	MYH13_uc010vvf.1_Silent_p.S100S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	425	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GAGCACCCACCGAATTGGTCA	0.478			NA											7	102					0	0	0.004482	0	0
CWC25	54883	broad.mit.edu	37	17	36958457	36958457	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:36958457C>T	uc002hqu.2	-	10	1319	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	CWC25_uc010wdv.1_Missense_Mutation_p.R326H|PIP4K2B_uc002hqs.2_5'Flank|PIP4K2B_uc010wdt.1_5'Flank	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	389											0						CAGCTTCATGCGGCTAGGAAG	0.453			NA											3	33					0	0	0.004672	0	0
HSPB9	94086	broad.mit.edu	37	17	40275188	40275188	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:40275188C>T	uc002hyy.2	+	1	433	c.320C>T	c.(319-321)CCG>CTG	p.P107L	KAT2A_uc002hyx.2_5'Flank	NM_033194	NP_149971	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related,	107					response to stress	cytoplasm|nucleus	protein binding				0		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AAAATGCTCCCGTCCAACCTG	0.632			NA											14	76					0	0	0.020292	0	0
CEP76	79959	broad.mit.edu	37	18	12699187	12699187	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:12699187G>T	uc002kri.2	-	4	467	c.311C>A	c.(310-312)ACA>AAA	p.T104K	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_Intron	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	104					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0						ATACCTCCGTGTTGGATCAAT	0.363			NA											7	82					0.000157383	0.000174524	0.00308	1	0
ESCO1	114799	broad.mit.edu	37	18	19153993	19153993	+	Missense_Mutation	SNP	T	T	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:19153993T>A	uc002kth.1	-	4	1746	c.812A>T	c.(811-813)AAT>ATT	p.N271I	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	271					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						TGTGTTAGTATTCACTTGTGT	0.428			NA											14	185					0	0	0.020292	0	0
LAMA3	3909	broad.mit.edu	37	18	21399897	21399897	+	Missense_Mutation	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21399897G>C	uc002kuq.2	+	19	2326	c.2240G>C	c.(2239-2241)GGA>GCA	p.G747A	LAMA3_uc002kur.2_Missense_Mutation_p.G747A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	747					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCGATTTGGATTTGATCCG	0.458			NA											8	61					0	0	0.004482	0	0
LAMA3	3909	broad.mit.edu	37	18	21399920	21399920	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21399920G>A	uc002kuq.2	+	19	2349	c.2263G>A	c.(2263-2265)GAG>AAG	p.E755K	LAMA3_uc002kur.2_Missense_Mutation_p.E755K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	755					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCATTTCCTGAGTTTAGCTG	0.478			NA											8	49					0	0	0.004482	0	0
LAMA3	3909	broad.mit.edu	37	18	21402219	21402219	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21402219G>A	uc002kuq.2	+	20	2394	c.2308G>A	c.(2308-2310)GAT>AAT	p.D770N	LAMA3_uc002kur.2_Missense_Mutation_p.D770N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	770					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTCAGAATGATGTAAGAAT	0.373			NA											9	57					0	0	0.006214	0	0
LAMA3	3909	broad.mit.edu	37	18	21402226	21402226	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21402226G>A	uc002kuq.2	+	20	2401	c.2315G>A	c.(2314-2316)AGA>AAA	p.R772K	LAMA3_uc002kur.2_Missense_Mutation_p.R772K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	772					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGATGTAAGAATAACATTG	0.363			NA											7	61					0	0	0.004482	0	0
LAMA3	3909	broad.mit.edu	37	18	21402295	21402295	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21402295G>A	uc002kuq.2	+	20	2470	c.2384G>A	c.(2383-2385)GGA>GAA	p.G795E	LAMA3_uc002kur.2_Missense_Mutation_p.G795E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	795					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTAACCCTGGAACTGAAGCA	0.378			NA											9	85					0	0	0.006214	0	0
LAMA3	3909	broad.mit.edu	37	18	21404467	21404467	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21404467G>A	uc002kuq.2	+	21	2595	c.2509G>A	c.(2509-2511)GAC>AAC	p.D837N	LAMA3_uc002kur.2_Missense_Mutation_p.D837N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	837	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTTTTGCAGACCCATTTTC	0.458			NA											13	74					0	0	0.013537	0	0
QPCTL	54814	broad.mit.edu	37	19	46202151	46202151	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr19:46202151G>A	uc010xxr.1	+	5	1100	c.879G>A	c.(877-879)AGG>AGA	p.R293R	QPCTL_uc010ekn.2_Silent_p.R199R	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	293					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ATCGGCTGAGGAGCATTGGTA	0.607			NA											5	66					0	0	0.014758	0	0
PEG3	5178	broad.mit.edu	37	19	57328566	57328566	+	Missense_Mutation	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr19:57328566G>C	uc002qnu.2	-	7	1595	c.1244C>G	c.(1243-1245)CCC>CGC	p.P415R	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_Missense_Mutation_p.P386R|PEG3_uc002qnv.2_Missense_Mutation_p.P415R|PEG3_uc002qnw.2_Missense_Mutation_p.P291R|PEG3_uc002qnx.2_Missense_Mutation_p.P289R|PEG3_uc010etr.2_Missense_Mutation_p.P415R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	415					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)		ACATTCAAAGGGCTTCTTCCT	0.493			NA											22	116					0	0	0.014323	0	0
ZNF549	256051	broad.mit.edu	37	19	58048682	58048682	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr19:58048682C>T	uc002qpb.1	+	4	559	c.310C>T	c.(310-312)CAT>TAT	p.H104Y	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.H91Y	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	104	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAAATGCTCATTCTTGTGA	0.512			NA											38	50					0	0	0.00623	0	0
TPO	7173	broad.mit.edu	37	2	1499824	1499824	+	Silent	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:1499824C>A	uc002qww.2	+	12	2161	c.2070C>A	c.(2068-2070)TCC>TCA	p.S690S	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.S633S|TPO_uc002qwr.2_Silent_p.S690S|TPO_uc002qwx.2_Silent_p.S633S|TPO_uc010yio.1_Silent_p.S517S|TPO_uc010yip.1_Silent_p.S690S|TPO_uc002qwy.1_Silent_p.S30S|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	690	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGAAGCACTCCCTGTCTCGGG	0.552			NA											5	25					2.7689e-08	3.44574e-08	0.001984	1	0
DHX57	90957	broad.mit.edu	37	2	39025509	39025509	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:39025509C>G	uc002rrf.2	-	24	4192	c.4093G>C	c.(4093-4095)GAT>CAT	p.D1365H	DHX57_uc002rrd.3_Missense_Mutation_p.D704H|DHX57_uc002rre.2_Missense_Mutation_p.D798H	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1365							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				GTACACAGATCAATGCTTGGG	0.428	Melanoma(191;1090 2095 4375 23729 47341)		NA											4	82					0	0	0.009096	0	0
ZAP70	7535	broad.mit.edu	37	2	98354270	98354270	+	Silent	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:98354270C>A	uc002syd.1	+	12	1740	c.1533C>A	c.(1531-1533)ATC>ATA	p.I511I	ZAP70_uc002sye.1_Silent_p.I401I|ZAP70_uc002syf.1_Silent_p.I204I	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	511	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						CCGAATGCATCAACTTCCGCA	0.637			NA											21	144					5.45024e-15	7.0164e-15	0.01892	1	0
NPHP1	4867	broad.mit.edu	37	2	110904346	110904346	+	Missense_Mutation	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:110904346C>A	uc002tfn.3	-	14	1595	c.1501G>T	c.(1501-1503)GTT>TTT	p.V501F	NPHP1_uc002tfm.3_Missense_Mutation_p.V446F|NPHP1_uc002tfl.3_Missense_Mutation_p.V502F|NPHP1_uc002tfo.3_Missense_Mutation_p.V383F|NPHP1_uc010ywx.1_Missense_Mutation_p.V445F|NPHP1_uc010fjv.1_Missense_Mutation_p.V445F	NM_207181	NP_997064	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 2	501					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2						GGAATAGGAACTCCACTGGCA	0.353			NA											8	103					3.09899e-07	3.77268e-07	0.004482	1	0
CNTNAP5	129684	broad.mit.edu	37	2	124783277	124783277	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:124783277G>T	uc002tno.2	+	1	414	c.50G>T	c.(49-51)GGC>GTC	p.G17V	CNTNAP5_uc010flu.2_Missense_Mutation_p.G17V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	17					cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGTTCTCTGGCTTGTGGCAT	0.512			NA											7	70					7.48243e-07	8.91523e-07	0.006214	1	0
SLC25A12	8604	broad.mit.edu	37	2	172691271	172691271	+	Silent	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:172691271T>C	uc002uhh.2	-	7	806	c.717A>G	c.(715-717)CTA>CTG	p.L239L	SLC25A12_uc010fqh.2_Silent_p.L132L|SLC25A12_uc010zdv.1_RNA	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	239					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTGTGCCAGCTAGAGTGCTAT	0.368			NA											5	114					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179532416	179532416	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:179532416C>T	uc010zfk.1	-	6	648	c.100G>A	c.(100-102)GAA>AAA	p.E34K	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	11229							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)			AGTACTTTTTCTTCTAGGACT	0.313			NA											8	150					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179577963	179577963	+	Silent	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:179577963G>T	uc010zfg.1	-	90	23390	c.23166C>A	c.(23164-23166)ATC>ATA	p.I7722I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.I4383I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8649							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)			TTCCACTACTGATCTCATTTC	0.438			NA											3	29					0.004672	0.00493645	0.004672	1	0
COL6A3	1293	broad.mit.edu	37	2	238285691	238285691	+	Missense_Mutation	SNP	C	C	A	rs112827048		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:238285691C>A	uc002vwl.2	-	7	3079	c.2794G>T	c.(2794-2796)GCT>TCT	p.A932S	COL6A3_uc002vwo.2_Missense_Mutation_p.A726S|COL6A3_uc010znj.1_Missense_Mutation_p.A325S|COL6A3_uc002vwq.2_Missense_Mutation_p.A726S|COL6A3_uc002vwr.2_Missense_Mutation_p.A525S|COL6A3_uc010znk.1_Missense_Mutation_p.A732S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	932	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCTGCCAGCAGACTTCACA	0.537			NA											9	50					0.000274275	0.000298241	0.004482	1	0
NCOA6	23054	broad.mit.edu	37	20	33345399	33345399	+	Silent	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:33345399T>C	uc002xav.2	-	8	3723	c.1152A>G	c.(1150-1152)TCA>TCG	p.S384S	NCOA6_uc002xaw.2_Silent_p.S384S|NCOA6_uc010gew.1_Silent_p.S341S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	384	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						TGTGGGCTTGTGAGGCTTGCT	0.577			NA											10	99					0	0	0.013537	0	0
TGM2	7052	broad.mit.edu	37	20	36768038	36768038	+	Missense_Mutation	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:36768038G>C	uc002xhr.2	-	9	1218	c.1118C>G	c.(1117-1119)CCA>CGA	p.P373R	TGM2_uc010zvx.1_Missense_Mutation_p.P292R|TGM2_uc010zvy.1_Missense_Mutation_p.P313R|TGM2_uc002xhs.1_Missense_Mutation_p.P349R|TGM2_uc002xht.2_Missense_Mutation_p.P373R	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	373					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AACTGGAACTGGGCCACAGCA	0.567			NA											3	27					0	0	0.004672	0	0
CDH22	64405	broad.mit.edu	37	20	44839056	44839056	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:44839056G>A	uc002xrm.2	-	6	1577	c.1176C>T	c.(1174-1176)CCC>CCT	p.P392P	CDH22_uc010ghk.1_Silent_p.P392P|CDH22_uc002xrn.1_Silent_p.P143P	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	392	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GCCGGAACTCGGGGGGCTCGT	0.741			NA											5	3					0	0	0.014758	0	0
GTPBP5	26164	broad.mit.edu	37	20	60770918	60770918	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:60770918G>T	uc002yce.3	+	3	303	c.265G>T	c.(265-267)GCA>TCA	p.A89S	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Missense_Mutation_p.A89S|GTPBP5_uc011aag.1_Missense_Mutation_p.A89S	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	89	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			AGGCGCTGGGGCAAGCTGCTT	0.567			NA											18	31					1.96292e-10	2.49826e-10	0.010504	1	0
TCEA2	6919	broad.mit.edu	37	20	62701744	62701744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:62701744C>T	uc011abs.1	+	7	1305	c.649C>T	c.(649-651)CAG>TAG	p.Q217*	TCEA2_uc011abr.1_Nonsense_Mutation_p.Q190*|TCEA2_uc010gkq.2_3'UTR|TCEA2_uc010gks.2_Nonsense_Mutation_p.Q218*|TCEA2_uc010gkt.2_3'UTR	NM_003195	NP_003186	Q15560	TCEA2_HUMAN	transcription elongation factor A protein 2	217	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AACACCCCAGCAGATCGCTGT	0.612			NA											4	51					0	0	0.009096	0	0
MYO18B	84700	broad.mit.edu	37	22	26423044	26423044	+	Silent	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr22:26423044G>T	uc003abz.1	+	43	7354	c.7104G>T	c.(7102-7104)CCG>CCT	p.P2368P	MYO18B_uc003aca.1_Silent_p.P2249P|MYO18B_uc010guy.1_Silent_p.P2250P|MYO18B_uc010guz.1_Silent_p.P2248P|MYO18B_uc011aka.1_Silent_p.P1522P|MYO18B_uc011akb.1_Silent_p.P1881P|MYO18B_uc010gva.1_Silent_p.P351P|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2368						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TGAGCTCTCCGACCACACCCA	0.587			NA											10	79					2.17888e-05	2.51582e-05	0.006214	1	0
EPHA3	2042	broad.mit.edu	37	3	89390135	89390135	+	Missense_Mutation	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr3:89390135C>A	uc003dqy.2	+	4	1109	c.884C>A	c.(883-885)TCT>TAT	p.S295Y	EPHA3_uc003dqx.1_Missense_Mutation_p.S295Y|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	295	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTCACAGTTCTACTCAGGAA	0.448			NA								TSP Lung(6;0.00050)			7	150					8.12818e-05	9.10357e-05	0.001984	1	0
CCDC39	339829	broad.mit.edu	37	3	180349366	180349366	+	Missense_Mutation	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr3:180349366T>C	uc010hxe.2	-	14	2004	c.1889A>G	c.(1888-1890)GAG>GGG	p.E630G	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	630					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACTTAGCCGCTCGCGAAACTC	0.348			NA											17	10					0	0	0.00499	0	0
PGM2	55276	broad.mit.edu	37	4	37847254	37847254	+	Missense_Mutation	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:37847254A>T	uc011byb.1	+	8	983	c.910A>T	c.(910-912)ACT>TCT	p.T304S	PGM2_uc011bya.1_Missense_Mutation_p.T165S|PGM2_uc011byc.1_Missense_Mutation_p.T144S	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	304					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			ovary(1)	1						TCTTCTTCAGACTTTGTCTTT	0.368			NA											8	127					0	0	0.00308	0	0
GABRA4	2557	broad.mit.edu	37	4	46966989	46966989	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:46966989G>T	uc003gxg.2	-	8	1271	c.1132C>A	c.(1132-1134)CAG>AAG	p.Q378K		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	378	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)	TCAAATACCTGCAGAGGGGCT	0.408	Ovarian(6;283 369 8234 12290 33402)		NA											14	74					3.27435e-08	4.02997e-08	0.020292	1	0
ATP10D	57205	broad.mit.edu	37	4	47559751	47559751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:47559751G>A	uc003gxk.1	+	12	2059	c.1895G>A	c.(1894-1896)TGG>TAG	p.W632*	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	632	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						TTCCAGAGATGGTCTGTCCGA	0.448			NA											18	51					0	0	0.006122	0	0
WDFY3	23001	broad.mit.edu	37	4	85605244	85605244	+	Missense_Mutation	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:85605244T>C	uc003hpd.2	-	63	9986	c.9578A>G	c.(9577-9579)CAT>CGT	p.H3193R	WDFY3_uc003hpc.2_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3193	WD 3.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTCCACACATGGATATATGT	0.493			NA											13	22					0	0	0.013537	0	0
PTPN13	5783	broad.mit.edu	37	4	87696609	87696609	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:87696609G>T	uc003hpz.2	+	35	6175	c.5695G>T	c.(5695-5697)GGA>TGA	p.G1899*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.G1904*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.G1880*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.G1708*|PTPN13_uc003hqc.1_Nonsense_Mutation_p.G265*	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1899	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCCTTATGTGGAGGTCATGA	0.338			NA											3	17					0.004672	0.00493645	0.004672	1	0
SGMS2	166929	broad.mit.edu	37	4	108831634	108831634	+	Silent	SNP	T	T	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:108831634T>G	uc003hyl.3	+	7	1578	c.1023T>G	c.(1021-1023)CCT>CCG	p.P341P	uc003hym.1_Intron|SGMS2_uc003hyn.2_Silent_p.P341P|SGMS2_uc003hyo.2_Silent_p.P341P	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	341	Cytoplasmic (Potential).				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			lung(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	CTTGGCCTCCTGGCTGCTTCA	0.443			NA											7	33					0	0	0.001984	0	0
FSTL5	56884	broad.mit.edu	37	4	162307279	162307279	+	Missense_Mutation	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:162307279T>C	uc003iqh.2	-	16	2600	c.2164A>G	c.(2164-2166)ACC>GCC	p.T722A	FSTL5_uc003iqi.2_Missense_Mutation_p.T721A|FSTL5_uc010iqv.2_Missense_Mutation_p.T712A|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	722						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCTCTGATGGTAATGTACTGA	0.413			NA											18	44					0	0	0.00499	0	0
FSTL5	56884	broad.mit.edu	37	4	162307290	162307290	+	Missense_Mutation	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:162307290A>T	uc003iqh.2	-	16	2589	c.2153T>A	c.(2152-2154)GTT>GAT	p.V718D	FSTL5_uc003iqi.2_Missense_Mutation_p.V717D|FSTL5_uc010iqv.2_Missense_Mutation_p.V708D|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	718						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATGTACTGAACCCTTACAAG	0.423			NA											16	42					0	0	0.003163	0	0
FAT1	2195	broad.mit.edu	37	4	187519168	187519168	+	Missense_Mutation	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:187519168C>A	uc003izf.2	-	23	12403	c.12215G>T	c.(12214-12216)GGA>GTA	p.G4072V	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4072	Extracellular (Potential).|EGF-like 3.				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						AACAAAGCCTCCGTTGTCGAC	0.413	Colon(197;1040 2055 4143 4984 49344)		NA								HNSCC(5;0.00058)			10	47					7.48243e-07	8.91523e-07	0.006214	1	0
SLC1A3	6507	broad.mit.edu	37	5	36671141	36671141	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr5:36671141G>A	uc003jkj.3	+	4	806	c.330G>A	c.(328-330)GCG>GCA	p.A110A	SLC1A3_uc011cox.1_Silent_p.A3A|SLC1A3_uc010iuy.2_Silent_p.A110A	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	110	Helical; (Potential).				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAATGGCGGCGCTAGATAGTA	0.453			NA											4	39					0	0	0.014758	0	0
CDK7	1022	broad.mit.edu	37	5	68558042	68558042	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr5:68558042G>A	uc003jvs.3	+	8	719	c.538G>A	c.(538-540)GCC>ACC	p.A180T	CDK7_uc003jvt.3_Missense_Mutation_p.A139T|CDK7_uc003jvu.3_Missense_Mutation_p.A87T	NM_001799	NP_001790	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	180	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			lung(1)	1		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GTGGTATCGGGCCCCCGAGTT	0.323			NA						NER					12	145					0	0	0.013537	0	0
ARAP3	64411	broad.mit.edu	37	5	141049581	141049581	+	Silent	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr5:141049581T>C	uc003llm.2	-	15	2235	c.2157A>G	c.(2155-2157)GCA>GCG	p.A719A	ARAP3_uc011dbe.1_Silent_p.A381A|ARAP3_uc003lln.2_Silent_p.A621A	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	719					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						TGTTTTCCGATGCAAACATTT	0.587			NA											7	35					0	0	0.00308	0	0
SLC35B3	51000	broad.mit.edu	37	6	8419843	8419843	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:8419843C>T	uc010joe.2	-	7	916	c.750G>A	c.(748-750)ATG>ATA	p.M250I	SLC35B3_uc003mya.2_Missense_Mutation_p.M218I|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.M250I|SLC35B3_uc011did.1_Missense_Mutation_p.M250I|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	250					transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)					TATGAAGTTTCATAGCTTTCT	0.318	Melanoma(83;700 1353 9357 11478 30548)		NA											5	93					0	0	0.001984	0	0
NKAPL	222698	broad.mit.edu	37	6	28227351	28227351	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:28227351C>T	uc003nkt.2	+	1	254	c.202C>T	c.(202-204)CGC>TGC	p.R68C	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	68										upper_aerodigestive_tract(1)|ovary(1)	2						CCCCTTTAGTCGCTCTGGGTC	0.612			NA											5	62					0	0	0.014758	0	0
TCTE1	202500	broad.mit.edu	37	6	44250096	44250096	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:44250096G>A	uc003oxi.2	-	4	1203	c.1047C>T	c.(1045-1047)CCC>CCT	p.P349P	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	349	LRR 2.									ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTGGGCACCGGGTGCACGCA	0.602			NA											7	119					0	0	0.006214	0	0
MYO6	4646	broad.mit.edu	37	6	76623792	76623792	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:76623792C>T	uc003pih.1	+	34	3731	c.3452C>T	c.(3451-3453)CCA>CTA	p.P1151L	MYO6_uc003pii.1_Missense_Mutation_p.P1128L|MYO6_uc003pij.1_Missense_Mutation_p.P99L	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1160					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGCAAAACCCAGCAGCTCAG	0.458			NA											15	50					0	0	0.003163	0	0
UTRN	7402	broad.mit.edu	37	6	145124171	145124171	+	Splice_Site	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:145124171G>T	uc003qkt.2	+	64	9338	c.9246_splice	c.e64-1	p.R3082_splice		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTTTTCTCTAGGTATAGAAGC	0.318			NA											38	38					6.97489e-18	9.08357e-18	0.021022	1	0
SFRP4	6424	broad.mit.edu	37	7	37953843	37953843	+	Silent	SNP	T	T	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:37953843T>A	uc003tfo.3	-	3	950	c.564A>T	c.(562-564)GCA>GCT	p.A188A		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	188	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						TGAGATACGTTGCCAAAGTTG	0.408			NA											10	149					0	0	0.010729	0	0
HECW1	23072	broad.mit.edu	37	7	43360276	43360276	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:43360276G>A	uc003tid.1	+	5	1000	c.395G>A	c.(394-396)GGA>GAA	p.G132E	HECW1_uc011kbi.1_Missense_Mutation_p.G132E|HECW1_uc003tie.1_Missense_Mutation_p.G164E	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	132					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						AAAAACCGTGGAGTCAATGGT	0.448			NA											9	62					0	0	0.010729	0	0
HECW1	23072	broad.mit.edu	37	7	43360301	43360301	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:43360301G>A	uc003tid.1	+	5	1025	c.420G>A	c.(418-420)CAG>CAA	p.Q140Q	HECW1_uc011kbi.1_Silent_p.Q140Q|HECW1_uc003tie.1_Silent_p.Q172Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	140					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						ATCGGGGCCAGATCATCTGGA	0.458			NA											11	65					0	0	0.016723	0	0
CROT	54677	broad.mit.edu	37	7	87011405	87011405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:87011405C>T	uc003uit.2	+	12	1323	c.1078C>T	c.(1078-1080)CGA>TGA	p.R360*	CROT_uc003uiu.2_Nonsense_Mutation_p.R388*	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	360					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AGAGAAGGTACGAGATATACC	0.333			NA											22	86					0	0	0.012319	0	0
CSMD1	64478	broad.mit.edu	37	8	3224649	3224649	+	Missense_Mutation	SNP	G	G	A	rs147113316	by1000genomes	TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr8:3224649G>A	uc011kwk.1	-	20	3413	c.3023C>T	c.(3022-3024)ACG>ATG	p.T1008M	CSMD1_uc011kwj.1_Missense_Mutation_p.T400M|CSMD1_uc003wqe.2_Missense_Mutation_p.T164M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1008	Extracellular (Potential).|CUB 6.					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)		TGCCTTGATCGTATGAGGCAA	0.478			NA											5	24					0	0	0.001168	0	0
PRKDC	5591	broad.mit.edu	37	8	48689545	48689545	+	Splice_Site	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr8:48689545C>G	uc003xqi.2	-	86	12100	c.12043_splice	c.e86-1	p.N4015_splice	PRKDC_uc003xqj.2_Splice_Site_p.N3984_splice|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic						cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTCAAAATTCTAGAAGAAAA	0.328	Esophageal Squamous(79;1091 1253 12329 31680 40677)		NA						NHEJ					26	65					0	0	0.013726	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971025	21971025	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:21971025G>A	uc003zpk.2	-	2	545	c.333C>T	c.(331-333)GGC>GGT	p.G111G	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P167S	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	111	ANK 4.				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.?(13)|p.H83fs*2(2)|p.D105fs*8(1)|p.G111G(1)|p.G111D(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(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)		CGGGCAGACGGCCCCAGGCAT	0.736			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)			5	5					0	0	0.014758	0	0
VPS13A	23230	broad.mit.edu	37	9	79955320	79955320	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:79955320G>T	uc004akr.2	+	50	7140	c.6880G>T	c.(6880-6882)GTT>TTT	p.V2294F	VPS13A_uc004akp.3_Missense_Mutation_p.V2294F|VPS13A_uc004akq.3_Missense_Mutation_p.V2294F|VPS13A_uc004aks.2_Missense_Mutation_p.V2255F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2294					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TTTTTCTTAGGTTGGTGTCAC	0.244			NA											4	45					4.096e-09	5.15452e-09	0.001168	1	0
ENG	2022	broad.mit.edu	37	9	130588861	130588861	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:130588861C>G	uc004bsj.3	-	4	864	c.451G>C	c.(451-453)GCT>CCT	p.A151P	ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Missense_Mutation_p.A151P	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	151	Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0						CCCCTCTCAGCTGCCCACTCA	0.622			NA							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				4	43					0	0	0.014758	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070915	141070915	+	Silent	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:141070915C>T	uc004com.2	+	4	579	c.318C>T	c.(316-318)ACC>ACT	p.T106T	TUBBP5_uc010ncq.2_3'UTR					RecName: Full=Putative tubulin beta-4q chain;												0						TGTCAGACACCGTGGTGGAGC	0.522			NA											5	83					0	0	0.008291	0	0
CXorf58	254158	broad.mit.edu	37	X	23933856	23933856	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chrX:23933856C>G	uc004daz.1	+	4	600	c.256C>G	c.(256-258)CCC>GCC	p.P86A	CXorf58_uc011mju.1_Missense_Mutation_p.P86A	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	hypothetical protein LOC254158	86											0						GAAAGTGGCCCCCTTAGAGGC	0.353			NA											3	49					0	0	0.009096	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105010969	105010969	+	Missense_Mutation	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chrX:105010969A>T	uc004elz.1	+	11	2132	c.1376A>T	c.(1375-1377)GAT>GTT	p.D459V		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	459	Cytoplasmic (Potential).|TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						TACATGGAAGATCTCACAAGA	0.388			NA											6	47					0	0	0.001168	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168962	60168962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:60168962delG	uc001sqs.2	+	5	1185	c.886delG	c.(886-888)GCTfs	p.A296fs	SLC16A7_uc001sqt.2_Frame_Shift_Del_p.A296fs|SLC16A7_uc001squ.2_Frame_Shift_Del_p.A296fs|SLC16A7_uc009zqi.2_Frame_Shift_Del_p.A197fs|SLC16A7_uc010ssi.1_Frame_Shift_Del_p.A197fs	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	296	Helical; (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TGATATGTTTGCTAGGCCTTC	0.403			NA											10	86	---	---	---	---	NA	NA	NA	NA	NA
KCNS3	3790	broad.mit.edu	37	2	18113204	18113208	+	Frame_Shift_Del	DEL	TTCGG	TTCGG	-			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	TTCGG	TTCGG	-	-	TTCGG	TTCGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:18113204_18113208delTTCGG	uc002rcv.2	+	3	1380_1384	c.929_933delTTCGG	c.(928-933)CTTCGGfs	p.L310fs	KCNS3_uc002rcw.2_Frame_Shift_Del_p.L310fs	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	310_311	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCGGTAGGACTTCGGTCTCTAGGTG	0.498			NA											30	101	---	---	---	---	NA	NA	NA	NA	NA
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913421		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	-	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	uc003tqk.2	+	19	2481_2495	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)AAGGAATTAAGAGAAGCA>AAA	p.ELREA746del	EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del|EGFR_uc011kco.1_In_Frame_Del_p.ELREA693del	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	746_750	Cytoplasmic (Potential).|Protein kinase.		Missing (found in a lung cancer sample).		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.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.A750_K754del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1)		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)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479		E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			55	85	---	---	---	---	NA	NA	NA	NA	NA
