Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
AZI1	22994	broad.mit.edu	37	17	79193819	79193819	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:79193819C>T	uc002jzp.1	-	1	238	c.38G>A	c.(37-39)cGc>cAc	p.R13H	AZI1_uc002jzn.1_Missense_Mutation_p.R13H|AZI1_uc002jzo.1_Missense_Mutation_p.R13H|AZI1_uc010wum.1_Missense_Mutation_p.R13H	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	13					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTGGGCTGCGCTCCGGGAC	0.662000													5	93					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18755102	18755102	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:18755102C>T	uc001mpd.3	-	10	1511	c.1080_splice	c.e10+1	p.R360_splice	PTPN5_uc001mpb.3_Splice_Site_p.R328_splice|PTPN5_uc001mpc.3_Splice_Site_p.R360_splice|PTPN5_uc010rdj.2_Splice_Site_p.R304_splice|PTPN5_uc001mpf.3_Splice_Site_p.R336_splice|PTPN5_uc001mpe.3_Splice_Site_p.R328_splice|PTPN5_uc010rdk.2_Splice_Site_p.R305_splice	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	360	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGAATACGTACCCGGATGTAG	0.592000													35	56					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			22	41					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111631214	111631214	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:111631214G>A	uc003puy.4	-	29	9225	c.8884C>T	c.(8884-8886)Ctt>Ttt	p.L2962F	REV3L_uc003pux.4_Missense_Mutation_p.L2884F|REV3L_uc003puz.4_Missense_Mutation_p.L2884F|REV3L_uc003puw.4_Missense_Mutation_p.L29F	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2962					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGCTGGATAAGTGGTACTCCG	0.512000								DNA polymerases (catalytic subunits)					27	66					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103498922	103498922	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:103498922C>T	uc004ely.3	-	1	488	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	140					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGGCGGCGGCGTTTCCTCTC	0.632000													21	76					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr4:140811099C>T	uc021xsg.1	-	1	2243	c.1491G>A	c.(1489-1491)caG>caA	p.Q497Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	497	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													5	45					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10715751	10715751	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:10715751G>A	uc001aro.3	-	8	1940	c.1620C>T	c.(1618-1620)caC>caT	p.H540H	CASZ1_uc001arp.1_Silent_p.H540H|CASZ1_uc009vmx.2_Silent_p.H564H	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTGGCAGCCGTGGTAGTAGA	0.637000													14	22					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100348502	100348502	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:100348502C>T	uc003uwj.3	+	11	1669	c.1504C>T	c.(1504-1506)Cac>Tac	p.H502Y	ZAN_uc003uwk.3_Missense_Mutation_p.H502Y|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	502	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCCTCAGGACACCAACAGCC	0.647000													20	27					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92472717	92472717	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:92472717C>A	uc001xzy.3	-	10	1977	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y	TRIP11_uc010auf.2_Missense_Mutation_p.D271Y	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	535					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCATTTAGATCTTGTTTCAGT	0.303000			T	PDGFRB	AML								5	25					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440650	124440650	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:124440650C>A	uc010san.2	+	0	686	c.686C>A	c.(685-687)aCa>aAa	p.T229K		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ACGAGCTTAACAGTTCTTGTT	0.498000													20	42					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136710584	136710584	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:136710584G>A	uc011edg.2	-	3	631	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	MAP7_uc011edf.2_Missense_Mutation_p.R91W|MAP7_uc010kgu.3_Missense_Mutation_p.R128W|MAP7_uc011edh.2_Missense_Mutation_p.R128W|MAP7_uc010kgv.3_Missense_Mutation_p.R128W|MAP7_uc010kgs.3_5'UTR|MAP7_uc011edi.2_5'UTR|MAP7_uc010kgq.2_Intron|MAP7_uc003qgz.3_Missense_Mutation_p.R106W|MAP7_uc003qha.2_Missense_Mutation_p.R106W|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Missense_Mutation_p.R128W	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	106					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTTCTTCCGCTCTTCCAGG	0.527000													43	77					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751623	140751623	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:140751623C>T	uc003ljw.2	+	0	1662	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.D554D|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	556	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGACGACCGCAACGACA	0.667000													21	55					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73731941	73731941	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:73731941G>A	uc003uam.3	+	1	392	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	CLIP2_uc003uan.3_Missense_Mutation_p.R22Q	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	22						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCATGGGCCGGACATCTACT	0.672000													75	100					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022239	6022239	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:6022239G>A	uc002wmo.2	-	4	1876	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	551						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTGCTTGCAGGGATGGTAATC	0.662000													46	136					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5428407	5428407	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:5428407G>A	uc002kmt.1	-	8	1056	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	EPB41L3_uc010wzh.1_Missense_Mutation_p.R324C|EPB41L3_uc002kmu.1_Missense_Mutation_p.R324C|EPB41L3_uc010dkq.1_Missense_Mutation_p.R215C|EPB41L3_uc010dks.1_Missense_Mutation_p.R346C	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	324	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGCCGGTCGCGATATATCAAC	0.413000													38	90					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391968	117391968	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:117391968G>A	uc001prh.1	-	5	1272	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	DSCAML1_uc001pri.1_Missense_Mutation_p.R228C	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	364	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGAGCCCGCGGATGGAGATG	0.652000													58	108					0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107236410	107236410	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:107236410G>C	uc001tlw.3	+	4	1005	c.880G>C	c.(880-882)Gat>Cat	p.D294H	RIC8B_uc001tlx.3_Missense_Mutation_p.D294H|RIC8B_uc001tly.3_Missense_Mutation_p.D254H|RIC8B_uc001tlz.3_Non-coding_Transcript|RIC8B_uc009zur.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	294					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CTCTTGTTTGGATGTTCTCAT	0.348000													10	35					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66081728	66081728	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:66081728G>A	uc001dci.3	+	14	2422	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K	LEPR_uc001dcg.3_Missense_Mutation_p.R678K|LEPR_uc001dch.3_Missense_Mutation_p.R678K|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.R678K|LEPR_uc001dcj.3_Missense_Mutation_p.R678K|LEPR_uc001dck.3_Missense_Mutation_p.R678K	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	678	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.Q677L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGTGTTCAGAGATATGTGATA	0.393000													23	44					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415742	19415742	+	RNA	SNP	T	T	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr13:19415742T>C	uc010tcj.1	-	0		c.30368A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCTGTTTTCCTAATCTTTCTT	0.338000													3	41					0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57736076	57736076	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:57736076C>A	uc001xcv.3	+	0	471	c.44C>A	c.(43-45)aCt>aAt	p.T15N	EXOC5_uc001xct.3_5'Flank|EXOC5_uc010trg.2_5'Flank|EXOC5_uc010trh.2_5'Flank|AP5M1_uc001xcu.4_Missense_Mutation_p.T15N|AP5M1_uc010tri.2_5'UTR|AP5M1_uc010trj.2_5'UTR	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Homo sapiens MU-2/AP1M2 domain containing, death-inducing (MUDENG), transcript variant 1, mRNA.	15					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GAACCGGGAACTCCACTTTGT	0.488000													10	73					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414462	68414462	+	RNA	SNP	A	A	G	rs149255248		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr9:68414462A>G	uc004aex.3	+	0		c.1017A>G								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ctcattgaccactctgaaaat	0.438000													3	14					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64572230	64572230	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:64572230G>A	uc001obj.3	-	9	1497	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Missense_Mutation_p.P475L|MEN1_uc001obl.3_Missense_Mutation_p.P435L|MEN1_uc001obm.3_Missense_Mutation_p.P470L|MEN1_uc001obn.3_Missense_Mutation_p.P475L|MEN1_uc001obo.3_Missense_Mutation_p.P475L|MEN1_uc001obq.3_Missense_Mutation_p.P475L|MEN1_uc001obr.3_Missense_Mutation_p.P475L	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	475					DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTCGCCCCACGGCTCCTCGGC	0.731000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				20	56					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784834	32784834	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr9:32784834A>G	uc022bfh.1	+	0	653	c.653A>G	c.(652-654)tAc>tGc	p.Y218C	TMEM215_uc003zri.4_Missense_Mutation_p.Y218C	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	218						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TATGACAGATACTGTTGTTAT	0.478000													15	55					0	0	1	0	0
LOC554223	554223	broad.mit.edu	37	6	29760284	29760284	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:29760284C>T	uc003nnt.3	+	1	471	c.369C>T	c.(367-369)tcC>tcT	p.S123S	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_Missense_Mutation_p.R88C	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	123					antigen processing and presentation|immune response	MHC class I protein complex											GCTTCCTCTCCGTGGGCGACG	0.706000													4	10					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183011	140183011	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:140183011C>T	uc003lhf.2	+	0	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S743S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	744					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637000													53	107					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:23967157A>G	uc002wts.3	-	1	225	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_uc002wtu.3_Missense_Mutation_p.M31T|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	31							gamma-glutamyltransferase activity	p.M31T(9)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622000													5	102					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400511	78400511	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:78400511G>A	uc001syp.3	+	7	1366	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	NAV3_uc001syo.3_Missense_Mutation_p.R398H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAG	0.498000										HNSCC(70;0.22)			38	59					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803456	113803456	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr13:113803456C>T	uc001vsx.3	+	7	1149	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	364	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGCGGCTTCGGGCGCACCC	0.647000													30	21					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67433758	67433758	+	Nonsense_Mutation	SNP	A	A	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:67433758A>C	uc004dww.4	-	6	837	c.543T>G	c.(541-543)taT>taG	p.Y181*	OPHN1_uc011mpg.2_Nonsense_Mutation_p.Y181*|OPHN1_uc004dwx.3_Nonsense_Mutation_p.Y181*	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	181					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTTGATAAACATAATCAAGAG	0.363000													3	5					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56138669	56138669	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:56138669G>A	uc002xyn.4	+	5	1010	c.847G>A	c.(847-849)Gca>Aca	p.A283T	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	283					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A282D(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGGCGGCCGCATTTCCCAG	0.552000													4	88					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137424	40137424	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:40137424G>A	uc021qgf.1	-	0	419	c.419C>T	c.(418-420)cCg>cTg	p.P140L	LRRC4C_uc001mxc.1_Missense_Mutation_p.P136L|LRRC4C_uc001mxd.1_Missense_Mutation_p.P136L|LRRC4C_uc001mxa.1_Missense_Mutation_p.P140L|LRRC4C_uc001mxb.1_Missense_Mutation_p.P136L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	140					regulation of axonogenesis	integral to membrane	protein binding	p.P140P(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGCTCCATTCGGGATGGTAGT	0.423000													12	29					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144892705	144892705	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr8:144892705G>A	uc003yzp.1	-	12	1481	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	SCRIB_uc003yzo.1_Missense_Mutation_p.R492W	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	492	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCCTCGCTCCGCCGCCCCTCG	0.682000													19	148					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7845380	7845380	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:7845380C>T	uc003mxu.4	+	1	850	c.672C>T	c.(670-672)taC>taT	p.Y224Y		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	224					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TAGTGGAGTACGACAAGGAGT	0.478000													37	52					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094403	150094403	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:150094403G>A	uc003whf.1	+	2	959	c.834G>A	c.(832-834)ccG>ccA	p.P278P		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgggcgagccgcgccAGTTCA	0.741000													14	25					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324283	31324283	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:31324283G>A	uc010dmg.1	+	11	4526	c.4471G>A	c.(4471-4473)Gtt>Att	p.V1491I	ASXL3_uc002kxq.2_Missense_Mutation_p.V1198I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACTGTCTCCGTTGAAAGCTC	0.557000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	53					0	0	1	0	0
FTL	2512	broad.mit.edu	37	19	49469955	49469955	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:49469955A>C	uc002plo.3	+	3	690	c.491A>C	c.(490-492)gAg>gCg	p.E164A	FTL_uc002pln.1_3'UTR	NM_000146	NP_000137	P02792	FRIL_HUMAN	Homo sapiens ferritin, light polypeptide (FTL), mRNA.	164					cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GGGCTGGGCGAGTATCTCTTC	0.552000													9	83					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132266164	132266164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr2:132266164C>T	uc010fna.3	+	1	383	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	LOC150776_uc010zax.1_Non-coding_Transcript|LOC150776_uc010zay.1_Non-coding_Transcript|LOC150776_uc010zaz.1_Non-coding_Transcript|LOC150776_uc002tsy.3_Non-coding_Transcript					Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane pseudogene (LOC150776), non-coding RNA.																		TCAAAAAATGCAGTCCCCTCA	0.453000													19	23					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	18					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Missense_Mutation	SNP	C	C	G	rs121913292		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr10:89692904C>G	uc001kfb.3	+	4	1420	c.388C>G	c.(388-390)Cga>Gga	p.R130G	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403000	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			29	36					0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054319	160054319	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:160054319C>T	uc001fuy.1	+	1	741	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C		NM_004983	NP_004974	Q92806	IRK9_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA.	167					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCAACAAGCGCGCAGCCAC	0.652000													20	20					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56816663	56816663	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:56816663C>T	uc001slf.2	-	18	2574	c.2406G>A	c.(2404-2406)gaG>gaA	p.E802E		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	802					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTCAGTCATCTCTCGAACCA	0.498000													4	73					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858518	52858518	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:52858518C>T	uc011bem.2	-	7	968	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	ITIH4_uc011bel.2_Missense_Mutation_p.V44I|ITIH4_uc003dfy.3_Missense_Mutation_p.V178I|ITIH4_uc003dfz.3_Missense_Mutation_p.V314I|ITIH4_uc011ben.2_Missense_Mutation_p.V314I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	314	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTACTGAAGACGATGAGGTTG	0.572000													14	71					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	Silent	SNP	T	T	A	rs145494190	by1000genomes	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:142482229T>A	uc011ksq.2	+	4	692	c.609T>A	c.(607-609)ccT>ccA	p.P203P	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.									p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													5	79					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280708	152280708	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:152280708G>T	uc001ezu.1	-	2	6690	c.6654C>A	c.(6652-6654)gaC>gaA	p.D2218E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2218	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTAGAGCTGTCGGCCCAAG	0.552000									Ichthyosis				7	478					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325354	47325354	+	RNA	SNP	G	G	A	rs4660360	by1000genomes	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:47325354G>A	uc001cqo.1	-	8		c.1214C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CATCTGGAAAGGTAATGGGTT	0.438000													4	77					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30034018	30034018	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:30034018C>T	uc021qfi.1	-	0	208	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	KCNA4_uc001msk.3_Missense_Mutation_p.A70T	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	70						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GAGGTACAGGCCCCGCGTGAC	0.662000													14	66					0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515410	56515410	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:56515410C>T	uc001sjp.1	+	2	1253	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	ZC3H10_uc021qyw.1_Missense_Mutation_p.P355L	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	355	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCACCCCCACCCCCACACTTG	0.627000													25	46					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754280	76754280	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:76754280C>T	uc002lmt.3	+	1	2289	c.2289C>T	c.(2287-2289)ggC>ggT	p.G763G	SALL3_uc010dra.3_Silent_p.G370G	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCACATGGGCGGCCAGATCC	0.652000													24	40					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	Missense_Mutation	SNP	G	G	A	rs11260887	by1000genomes	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:17023110G>A	uc001azn.1	-	9	1754	c.1640C>T	c.(1639-1641)cCg>cTg	p.P547L						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GTTGAGCAGCGGCTGAAACCC	0.687000													5	21					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234601884	234601884	+	Nonsense_Mutation	SNP	T	T	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr2:234601884T>G	uc002vuv.4	+	0	373	c.234T>G	c.(232-234)taT>taG	p.Y78*	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Nonsense_Mutation_p.Y78*	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	79					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GAAAAATCTATCCAGTGCCGT	0.423000													29	49					0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36780847	36780847	+	Missense_Mutation	SNP	C	C	T	rs140089260		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:36780847C>T	uc001wtm.2	-	5	810	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	MBIP_uc001wto.2_Missense_Mutation_p.R241Q|MBIP_uc010tpy.1_Missense_Mutation_p.R100Q|MBIP_uc001wtn.2_Missense_Mutation_p.R241Q	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.	241	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ACCACAGTCTCGAAGCATGCT	0.428000													11	25					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33572744	33572744	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:33572744C>T	uc002xbi.2	+	11	1179	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	246	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TAACTCCTCCCGCTTTGTGAG	0.652000													31	65					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57871401	57871401	+	Silent	SNP	G	G	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:57871401G>T	uc001sod.3	-	6	1003	c.810C>A	c.(808-810)cgC>cgA	p.R270R	ARHGAP9_uc001sny.3_5'Flank|ARHGAP9_uc001snz.3_Silent_p.R15R|ARHGAP9_uc001soa.3_5'UTR|ARHGAP9_uc001sob.3_Silent_p.R199R|ARHGAP9_uc001soc.3_Silent_p.R199R|ARHGAP9_uc001soe.1_Silent_p.R278R|ARHGAP9_uc010sro.1_Silent_p.R199R	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	199					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ACCGAGGACAGCGGCGAAGGT	0.647000													23	55					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10781723	10781723	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:10781723A>T	uc002mpn.3	+	2	394	c.77A>T	c.(76-78)gAg>gTg	p.E26V	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Missense_Mutation_p.E26V|ILF3_uc002mpl.2_Missense_Mutation_p.E26V|ILF3_uc002mpk.2_Missense_Mutation_p.E26V|ILF3_uc002mpo.3_Missense_Mutation_p.E26V	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	26					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCAACACAAGAGGAGCTGGAG	0.502000													7	22					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95718733	95718733	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:95718733C>T	uc001pfw.1	-	3	3702	c.2417G>A	c.(2416-2418)aGa>aAa	p.R806K		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	806					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCCCACATTTCTTCTTTGGTC	0.323000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								5	15					0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30155955	30155955	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:30155955C>G	uc002wwc.3	+	11	1223	c.1109C>G	c.(1108-1110)gCc>gGc	p.A370G	HM13_uc002wwd.3_Missense_Mutation_p.A370G|HM13_uc002wwe.3_Intron|HM13_uc002wwf.3_Missense_Mutation_p.A246G	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	349					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GGCTCCCCAGCCAGCCTGGCC	0.662000													4	37					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538420	27538420	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr10:27538420G>C	uc001its.2	-	0	2816	c.973C>G	c.(973-975)Caa>Gaa	p.Q325E						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		ACTGTGGCTTGAGTCAGGTTT	0.498000													71	77					0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21596141	21596141	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:21596141C>G	uc003ndi.3	+	0	2170	c.1376C>G	c.(1375-1377)tCg>tGg	p.S459W		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	459					DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development	mitochondrion|nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GAGATGATCTCGGGAGACTGG	0.622000													4	16					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	15					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670597	134670597	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:134670597C>T	uc003eqt.3	+	2	883	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	170						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R170L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCTCTTACTCGGAATGGTTT	0.463000													94	117					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88679256	88679256	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr15:88679256T>A	uc002bme.2	-	8	1087	c.781A>T	c.(781-783)Acc>Tcc	p.T261S	NTRK3_uc002bmh.2_Missense_Mutation_p.T261S|NTRK3_uc002bmf.2_Missense_Mutation_p.T261S|NTRK3_uc021sua.1_Missense_Mutation_p.T261S|NTRK3_uc010upl.1_Missense_Mutation_p.T163S|NTRK3_uc010bnh.1_Missense_Mutation_p.T261S|NTRK3_uc002bmg.3_Missense_Mutation_p.T261S	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	261	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAACATTGGTCCAGTTCAGA	0.458000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			6	62					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134491532	134491532	+	Silent	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:134491532G>C	uc003qen.4	-	11	1259	c.1170C>G	c.(1168-1170)acC>acG	p.T390T	SGK1_uc003qeo.4_Silent_p.T485T|SGK1_uc011ect.2_Silent_p.T380T|SGK1_uc011ecu.2_Silent_p.T346T|SGK1_uc011ecv.2_Silent_p.T404T|SGK1_uc011ecw.2_Silent_p.T418T	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	390	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CAGGCTCTTCGGTAAACTCGG	0.557000													37	55					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22161368	22161368	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:22161368G>A	uc009vqd.3	-	76	10567	c.10527C>T	c.(10525-10527)ttC>ttT	p.F3509F	HSPG2_uc001bfj.3_Silent_p.F3508F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3508	Ig-like C2-type 21.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAGGCATTCGAACTCCACGG	0.637000													25	50					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	985167	985168	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:985167_985168insC	uc001ack.2	+	25	4786_4787	c.4736_4737insC	c.(4735-4737)ggcfs	p.G1579fs		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1579	EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCCGCCCGGCCGCGTCGGTG	0.752													9	21	---	---	---	---					
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718													10	3	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:27100182_27100184delGCA	uc001bmv.1	+	15	4351_4353	c.3978_3980delGCA	c.(3976-3981)ccgcag>ccg	p.Q1334del	ARID1A_uc001bmt.1_In_Frame_Del_p.Q1333del|ARID1A_uc001bmu.1_In_Frame_Del_p.Q1334del|ARID1A_uc001bmw.1_In_Frame_Del_p.Q951del|ARID1A_uc001bmx.1_In_Frame_Del_p.Q180del|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1334	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q1334_R1335insQ(2)|p.Q1334delQ(2)|p.Q1327*(1)|p.Q1333Q(1)|p.Q1334del(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	155	---	---	---	---					
TMF1	7110	broad.mit.edu	37	3	69084233	69084237	+	Frame_Shift_Del	DEL	CTGTA	CTGTA	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:69084233_69084237delCTGTA	uc011bfx.2	-	8	2437_2441	c.2190_2194delTACAG	c.(2188-2196)cgtacagaafs	p.R730fs	TMF1_uc003dnn.3_Frame_Shift_Del_p.R727fs	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	727					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GCCGCTTGTTCTGTACGCTGCAATG	0.434													8	132	---	---	---	---					
DMWD	1762	broad.mit.edu	37	19	46289096	46289098	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:46289096_46289098delCCA	uc002pdj.1	-	2	1702_1704	c.1656_1658delTGG	c.(1654-1659)ggtggc>ggc	p.552_553GG>G	DMWD_uc021uwc.1_In_Frame_Del_p.V206del|DMWD_uc010eko.1_In_Frame_Del_p.237_238GG>G	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	552					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCCGCCACTGCCACCCCGGCTGA	0.719													28	37	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:72433664_72433666delTCC	uc004ebi.3	-	0	1045_1047	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													8	45	---	---	---	---					
