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
PCDH15	65217	broad.mit.edu	37	10	55996666	55996666	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:55996666G>A	uc010qhy.1	-	9	1312	c.917C>T	c.(916-918)aCg>aTg	p.T306M	PCDH15_uc010qhq.2_Missense_Mutation_p.T306M|PCDH15_uc010qhr.2_Missense_Mutation_p.T301M|PCDH15_uc021pqv.1_Missense_Mutation_p.T301M|PCDH15_uc021pqw.1_Missense_Mutation_p.T306M|PCDH15_uc010qht.2_Missense_Mutation_p.T301M|PCDH15_uc021pqx.1_Missense_Mutation_p.T301M|PCDH15_uc001jjv.1_Missense_Mutation_p.T279M|PCDH15_uc021pqy.1_Missense_Mutation_p.T301M|PCDH15_uc021pqz.1_Missense_Mutation_p.T279M|PCDH15_uc010qhv.1_Missense_Mutation_p.T301M|PCDH15_uc010qhw.1_Missense_Mutation_p.T264M|PCDH15_uc010qhx.1_Missense_Mutation_p.T301M|PCDH15_uc010qhz.1_Missense_Mutation_p.T301M|PCDH15_uc010qia.1_Missense_Mutation_p.T279M|PCDH15_uc001jju.1_Missense_Mutation_p.T301M|PCDH15_uc010qib.1_Missense_Mutation_p.T279M|PCDH15_uc001jjw.3_Missense_Mutation_p.T301M	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	301	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.T306M(2)|p.T301M(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTGGTGGCGTAACAATAAT	0.403000										HNSCC(58;0.16)			61	70					0	0	1	0	0
KREMEN2	79412	broad.mit.edu	37	16	3014524	3014524	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr16:3014524G>A	uc002csg.3	+	0	308	c.3G>A	c.(1-3)atG>atA	p.M1I	KREMEN2_uc010bsw.2_Missense_Mutation_p.M1I|KREMEN2_uc002csi.3_Missense_Mutation_p.M1I|KREMEN2_uc010uwl.2_Missense_Mutation_p.M1I|KREMEN2_uc002csh.3_Missense_Mutation_p.M1I|KREMEN2_uc010bsx.3_Missense_Mutation_p.M1I	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	Homo sapiens kringle containing transmembrane protein 2 (KREMEN2), transcript variant 4, mRNA.	1					Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						TGAGAGCGATGGGGACACAAG	0.687000													36	54					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49069198	49069198	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chrX:49069198G>A	uc004dnb.3	-	32	3966	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W	CACNA1F_uc010nip.3_Missense_Mutation_p.R1291W	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1302					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTGACCAGCCGCATAACTCGG	0.522000													3	8					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1560049	1560049	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:1560049T>C	uc002fte.3	-	34	5626	c.5512A>G	c.(5512-5514)Aag>Gag	p.K1838E		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1838	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTCTTCCACTTAGCCAACTTA	0.483000													4	29					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531513	140531513	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr5:140531513G>A	uc003lir.3	+	0	1675	c.1675G>A	c.(1675-1677)Gtg>Atg	p.V559M		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	559	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V559M(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGTTGTACCC	0.721000													96	79					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:178916876G>A	uc003fjk.3	+	1	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		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.R88Q(102)		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)			GAAACAAGACGACTTTGTGAC	0.363000	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			53	58					0	0	1	0	0
WASH7P	653635	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:14976G>A	uc009vis.3	-	2		c.369C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		CTACCCTTGCGCCTCATGACC	0.582000													4	16					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89653846	89653846	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:89653846C>A	uc001kfb.3	+	1	1176	c.144C>A	c.(142-144)aaC>aaA	p.N48K	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	48	Phosphatase tensin-type.				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.0?(37)|p.?(8)|p.N48fs*6(2)|p.Y27fs*1(2)|p.R47G(2)|p.Y27_N212>Y(2)|p.N48D(1)|p.N48I(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)		TATACAGGAACAATATTGATG	0.289000		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)			4	81					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861907	131861907	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr8:131861907G>A	uc003ytd.4	-	9	2609	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	785					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGACGTTCCGGGCCAAATAG	0.468000										HNSCC(32;0.087)			22	52					0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20325485	20325485	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr13:20325485C>T	uc021rgx.1	-	4	1030	c.893G>A	c.(892-894)aGa>aAa	p.R298K		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	298	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTGGCTTCTCTGATGTTTCT	0.418000													11	210					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242383349	242383349	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:242383349C>T	uc001hzn.2	-	5	903	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	PLD5_uc021pll.1_Missense_Mutation_p.V134M|PLD5_uc001hzl.4_Missense_Mutation_p.V164M|PLD5_uc001hzm.4_Missense_Mutation_p.V18M|PLD5_uc001hzo.2_Missense_Mutation_p.V134M	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	226	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGTTTGTCCACGATCCAGAAG	0.527000													4	76					0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	T	C	rs1062001		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:85056021T>C	uc002bkm.2	-	5		c.539A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GTAGCTGCTCTACCTTAGATG	0.502000													5	12					0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515289	56515289	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:56515289A>G	uc001sjp.1	+	2	1132	c.943A>G	c.(943-945)Act>Gct	p.T315A	ZC3H10_uc021qyw.1_Missense_Mutation_p.T315A	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	315							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)			GACTCACACTACTCTCAGCAG	0.597000													26	26					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544135	82544135	+	Silent	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr7:82544135C>T	uc003uhx.2	-	6	13456	c.13167G>A	c.(13165-13167)agG>agA	p.R4389R	PCLO_uc003uhv.2_Silent_p.R4389R|PCLO_uc010lec.3_Silent_p.R1354R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4320					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAAACTGATCCCTGGTGTCTG	0.522000													27	33					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879237	3879237	+	Missense_Mutation	SNP	C	C	T	rs113585667		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr18:3879237C>T	uc002kmf.3	-	3	1359	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	DLGAP1_uc010wyz.2_Missense_Mutation_p.A278T|DLGAP1_uc002kmk.2_Missense_Mutation_p.A278T|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	278					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAGGACCAGGCGCTCTTCTTC	0.652000													43	44					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35470086	35470086	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:35470086C>A	uc002hnm.3	-	50	6469	c.6278G>T	c.(6277-6279)tGg>tTg	p.W2093L	ACACA_uc002hnk.3_Missense_Mutation_p.W2015L|ACACA_uc002hnl.3_Missense_Mutation_p.W2035L|ACACA_uc002hnn.3_Missense_Mutation_p.W2093L|ACACA_uc002hno.3_Missense_Mutation_p.W2130L|ACACA_uc010cuy.3_Missense_Mutation_p.W738L|ACACA_uc010wdb.2_Missense_Mutation_p.W131L|ACACA_uc010wdc.2_Missense_Mutation_p.W219L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2093	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AATCACCACCCAGGAGCCACC	0.557000													26	42					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42230557	42230557	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:42230557G>A	uc003cky.3	+	5	847	c.631G>A	c.(631-633)Gat>Aat	p.D211N	TRAK1_uc011azh.2_Missense_Mutation_p.D211N|TRAK1_uc011azi.2_Missense_Mutation_p.D211N|TRAK1_uc003ckz.4_Missense_Mutation_p.D137N|TRAK1_uc011azj.2_Missense_Mutation_p.D137N|TRAK1_uc003cla.3_Missense_Mutation_p.D153N	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	211	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTTTCATTTGGATTCTCTTCA	0.498000													5	44					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12131124	12131124	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:12131124A>G	uc001ild.4	+	4	956	c.857A>G	c.(856-858)aAt>aGt	p.N286S		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	286					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATGTTGCCCAATCCCTCGCAC	0.602000													58	77					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263453	1263453	+	Silent	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr11:1263453G>A	uc001lta.3	+	30	5402	c.5343G>A	c.(5341-5343)acG>acA	p.T1781T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1781	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCAGGGCACGACCCGCTGTC	0.582000													7	85					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180359980	180359980	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:180359980T>A	uc010hxe.3	-	12	1790	c.1675A>T	c.(1675-1677)Ata>Tta	p.I559L	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	559					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGTCCTCTATCATCAAATCC	0.279000													7	14					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531634	7531634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:7531634G>A	uc010sge.2	-	8	2367	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	CD163L1_uc001qsy.3_Nonsense_Mutation_p.R771*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	771	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTCCCATCGTATACAATCC	0.408000													61	57					0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907828	12907828	+	Silent	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:12907828G>A	uc010obf.2	-	1	541	c.315C>T	c.(313-315)taC>taT	p.Y105Y	LOC649330_uc009vno.2_Silent_p.Y105Y	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	105							nucleic acid binding|nucleotide binding										AAGAGGAGCCGTACATCTCCG	0.493000													45	104					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947435	237947435	+	Silent	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:237947435C>T	uc001hyl.1	+	89	12543	c.12423C>T	c.(12421-12423)agC>agT	p.S4141S	RYR2_uc010pya.2_Silent_p.S556S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4141					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S4139S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCATGGGAAGCGCCAAACGCA	0.498000													71	61					0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142490102	142490102	+	Silent	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr8:142490102G>A	uc003ywi.2	-	7	964	c.883C>T	c.(883-885)Cta>Tta	p.L295L	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	295							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGAAGGATTAGCCCATAGTAG	0.587000													9	19					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444079	5444079	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr11:5444079G>T	uc010qzd.2	+	0	739	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTCATTGTGATCTCCTA	0.493000													7	168					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551979	125551979	+	Silent	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr9:125551979C>T	uc011lzd.2	+	0	768	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCATGATGTACGGGACACTCA	0.602000													4	124					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120969598	120969598	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:120969598G>A	uc003eec.4	+	14	1569	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	STXBP5L_uc011bji.2_Missense_Mutation_p.D477N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	477					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAATTTTGGGATGCTTCTGC	0.289000													9	9					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:41266124A>G	uc010hia.1	+	3	277	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_uc003ckq.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckp.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41A|CTNNB1_uc011azf.1_Missense_Mutation_p.T34A|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(1172)|p.A5_A80del(119)|p.T41I(78)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.T41P(13)|p.T40I(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.T41S(9)|p.T41N(7)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.T40_L46del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.V22_T102del(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.A39_T42del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.T41T(2)|p.V22_S71>A(2)|p.A20_A80del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.T40S(2)|p.T40T(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.T41_N51del(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.I35_T41del(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.T40A(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGTGCCACTACCACAGCTCC	0.507000	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				16	39					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118680	118680	+	RNA	SNP	T	T	C			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chrGL000205.1:118680T>C	uc002kgk.4	+	0		c.2058T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGTGATTTATTAACGCCCAA	0.378000													3	4					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	804	804	+	RNA	SNP	A	A	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chrGL000237.1:804A>T	uc011mgu.1	-	1		c.414T>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		CCACCCTCCAAGGATCCTACC	0.592000													6	18					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39119985	39119985	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:39119985C>T	uc002hvo.1	-	2	638	c.602G>A	c.(601-603)gGc>gAc	p.G201D	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	201	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGCTTGAGGCCATTGGCATC	0.502000													4	101					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:39274291T>C	uc002hvz.3	-	0	316	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(8)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													5	104					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53889439	53889439	+	Silent	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:53889439C>T	uc002acj.2	-	17	3027	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378000													72	106					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156848943	156848943	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:156848943C>T	uc001fqh.1	+	14	1891	c.1835C>T	c.(1834-1836)gCt>gTt	p.A612V	NTRK1_uc001fqf.1_Missense_Mutation_p.A576V|NTRK1_uc009wsi.1_Missense_Mutation_p.A311V|NTRK1_uc001fqi.1_Missense_Mutation_p.A606V|NTRK1_uc009wsk.1_Missense_Mutation_p.A609V	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	612	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AAGCTGCTGGCTGGTGGGGAG	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			14	31					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29855969	29855969	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr6:29855969T>C	uc010jro.3	+	1	463	c.317T>C	c.(316-318)aTc>aCc	p.I106T	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Intron|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	104	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						AACCTGCGGATCGCGCTCCGC	0.697000													3	20					0	0	1	0	0
GSK3A	2931	broad.mit.edu	37	19	42738561	42738561	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr19:42738561C>T	uc002otb.1	-	5	967	c.848G>A	c.(847-849)cGc>cAc	p.R283H	GSK3A_uc002ota.1_Missense_Mutation_p.R201H	NM_019884	NP_063937	P49840	GSK3A_HUMAN	Homo sapiens glycogen synthase kinase 3 alpha (GSK3A), mRNA.	283	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CCGGTAGTAGCGAGAACAGAT	0.587000													5	91					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843774	16843774	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:16843774G>A	uc002gqs.1	-	3	510	c.497C>T	c.(496-498)aCg>aTg	p.T166M	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.T120M	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	166					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GAGCCCCAGCGTGCTGTAGAC	0.642000									IgA Deficiency, Selective				25	31					0	0	1	0	0
PCYT2	5833	broad.mit.edu	37	17	79865686	79865686	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:79865686C>T	uc002kcf.2	-	4	564	c.455G>A	c.(454-456)cGc>cAc	p.R152H	PCYT2_uc010wvb.2_Missense_Mutation_p.R120H|PCYT2_uc002kce.2_Missense_Mutation_p.R74H|PCYT2_uc002kch.2_Missense_Mutation_p.R152H|PCYT2_uc002kci.2_Missense_Mutation_p.R93H|PCYT2_uc010wvc.2_Missense_Mutation_p.R74H	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	152	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAGCAGCATGCGGCCCACGAG	0.652000													4	61					0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065540	55065540	+	RNA	SNP	C	C	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr11:55065540C>A	uc021qjb.1	-	0		c.169G>T			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		GTTCTTCAAACAAATGTCAGT	0.473000													16	24					0	0	1	0	0
AK311167	0	broad.mit.edu	37	9	69067873	69067873	+	RNA	SNP	A	A	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr9:69067873A>T	uc010mnq.2	+	1		c.471A>T								Homo sapiens cDNA, FLJ18209.																		aagaagaaaaagagcaaagat	0.284000													7	23					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54804028	54804028	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:54804028G>A	uc021smr.1	+	22	5451	c.5451_splice	c.e22+1	p.E1817_splice	UNC13C_uc021sms.1_Splice_Site_p.E1819_splice	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1819					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGGGAAGGAGGTGGGTATCT	0.353000													7	8					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93646150	93646150	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:93646150C>T	uc003drb.4	-	1	519	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	PROS1_uc010hoo.3_5'UTR|PROS1_uc003dqz.4_5'UTR	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	60	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CACAGTTCTTCGATGCATTCT	0.408000													32	36					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:78290635C>T	uc002bcy.4	-	12	2759	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_uc010bla.3_Missense_Mutation_p.D903N	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	920						intracellular	Rab GTPase activator activity|protein binding	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													4	16					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227360	39227360	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:39227360G>A	uc003cjk.2	-	1	3806	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R1193W	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1193							actin binding	p.R1193W(2)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTCCTCCCGCCCTGGCCCA	0.677000													5	52					0	0	1	0	0
BC107108	0	broad.mit.edu	37	15	20362815	20362815	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:20362815T>C	uc001yte.1	+	0	128	c.77T>C	c.(76-78)cTg>cCg	p.L26P						RecName: Full=Putative BMS1-like protein ENSP00000383088;																		CCCATTATCCTGGGTGGCTTG	0.507000													9	44					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100895289	100895289	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr6:100895289G>T	uc003pqj.4	-	7	1320	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	SIM1_uc021zdg.1_Missense_Mutation_p.L285M|SIM1_uc010kcu.3_Missense_Mutation_p.L285M	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	285	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCCTTCACCAGCACTGACGGA	0.597000													7	46					0	0	1	0	0
TOE1	114034	broad.mit.edu	37	1	45808866	45808866	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:45808866G>C	uc009vxq.3	+	7	1608	c.1025G>C	c.(1024-1026)aGg>aCg	p.R342T	MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Missense_Mutation_p.R262T|TOE1_uc001cnr.4_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	342						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CGACGACGTAGGGAAAAACGG	0.562000													124	119					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31530082	31530082	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr22:31530082C>T	uc003aju.4	+	12	2790	c.2698C>T	c.(2698-2700)Cgg>Tgg	p.R900W	INPP5J_uc003ajw.3_3'UTR|INPP5J_uc003ajt.4_Missense_Mutation_p.R532W|INPP5J_uc003ajv.4_Missense_Mutation_p.R533W|INPP5J_uc003ajs.4_Missense_Mutation_p.R533W|INPP5J_uc011alk.2_Missense_Mutation_p.R833W|INPP5J_uc010gwg.3_Missense_Mutation_p.R465W	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	900	Ser-rich.					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCTTGCCCTACGGCCCTCATC	0.692000													4	4					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092320	56092320	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:56092320G>A	uc001shh.3	-	6	1271	c.1051C>T	c.(1051-1053)Cgc>Tgc	p.R351C	ITGA7_uc001shg.3_Missense_Mutation_p.R347C|ITGA7_uc010sps.2_Missense_Mutation_p.R254C|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.R234C	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	391					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTTCTTGGCGCTCAAAGAAG	0.612000													47	62					0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233431668	233431668	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr2:233431668G>C	uc002vta.3	+	4	583	c.505G>C	c.(505-507)Gct>Cct	p.A169P	EIF4E2_uc002vtb.1_Missense_Mutation_p.A169P|EIF4E2_uc010zmi.1_Missense_Mutation_p.A124P	NM_004846	NP_004837	O60573	IF4E2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 2 (EIF4E2), mRNA.	169					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GATCTGTGGGGCTGTGGTGTC	0.552000													6	66					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713951	10713952	+	Frame_Shift_Ins	INS	-	-	CTGGACTCCT			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:10713951_10713952insCTGGACTCCT	uc001aro.3	-	10	2482_2483	c.2162_2163insAGGAGTCCAG	c.(2161-2163)agcfs	p.S721fs	CASZ1_uc001arp.1_Frame_Shift_Ins_p.S721fs|CASZ1_uc009vmx.2_Frame_Shift_Ins_p.S745fs	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	721					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)		GGTCGTCGTTGCTGGACTCCTC	0.683													14	75	---	---	---	---					
