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	ENST00000373965.2	-	9	1296	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PCDH15_ENST00000373957.3_Missense_Mutation_p.T279M|PCDH15_ENST00000395440.1_Missense_Mutation_p.T301M|PCDH15_ENST00000373955.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395445.1_Missense_Mutation_p.T301M|PCDH15_ENST00000437009.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395433.1_Missense_Mutation_p.T279M|PCDH15_ENST00000361849.3_Missense_Mutation_p.T301M|PCDH15_ENST00000320301.6_Missense_Mutation_p.T301M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395432.2_Missense_Mutation_p.T264M|PCDH15_ENST00000395446.1_Missense_Mutation_p.T301M|PCDH15_ENST00000414778.1_Missense_Mutation_p.T306M|PCDH15_ENST00000395442.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395430.1_Missense_Mutation_p.T301M	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	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	+	Translation_Start_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.chr16:3014524G>A	ENST00000572045.1	+	1	308	c.3G>A	c.(1-3)atG>atA	p.M1I	KREMEN2_ENST00000575769.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000575885.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000571007.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000319500.6_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000303746.5_Start_Codon_SNP_p.M1I	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	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	ENST00000376265.2	-	33	3965	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1291W|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1237W	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	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	ENST00000572621.1	-	34	5777	c.5512A>G	c.(5512-5514)Aag>Gag	p.K1838E	PRPF8_ENST00000304992.6_Missense_Mutation_p.K1838E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1838	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA 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	0	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	ENST00000231136.1	+	1	1675	c.1675G>A	c.(1675-1677)Gtg>Atg	p.V559M	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V423M	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		559	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V559M(1)		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	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	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).		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|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(53)		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
CA6	765	broad.mit.edu	37	1	9011714	9011714	+	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.chr1:9011714C>T	ENST00000319474.2	+	3	516	c.492C>T	c.(490-492)agC>agT	p.S164S	CA6_ENST00000377443.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI	43					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTTGCAGCGGCTCCCGCC	0.577000													17	26					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	ENST00000371953.3	+	2	1501	c.144C>A	c.(142-144)aaC>aaA	p.N48K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	48	Phosphatase tensin-type.				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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.Y27fs*1(2)		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					0.217242	0.217242	1	1	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	ENST00000286355.5	-	10	4445	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	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
POM121L9P	0	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A	rs144618782	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.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1																						CTGTGGGAGGGGGGAATGTTC	0.622000													3	19					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	ENST00000338910.4	-	4	1052	c.893G>A	c.(892-894)aGa>aAa	p.R298K		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	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	nucleotide binding|protein binding|RNA 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
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	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	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).		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 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 I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|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 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|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|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|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(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
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	ENST00000257940.2	+	3	1219	c.943A>G	c.(943-945)Act>Gct	p.T315A	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	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	ENST00000423517.2	-	7	13504	c.13167G>A	c.(13165-13167)agG>agA	p.R4389R	PCLO_ENST00000333891.8_Silent_p.R4389R|PCLO_ENST00000437081.1_Silent_p.R1109R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	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	ENST00000315677.3	-	4	1427	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	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	ENST00000353139.5	-	51	6870	c.6389G>T	c.(6388-6390)tGg>tTg	p.W2130L	ACACA_ENST00000361253.5_Missense_Mutation_p.W219L|ACACA_ENST00000394406.2_Missense_Mutation_p.W2093L|ACACA_ENST00000360679.3_Missense_Mutation_p.W2035L|ACACA_ENST00000335166.5_Missense_Mutation_p.W2015L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	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	acetyl-CoA carboxylase activity|ATP binding|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					5.45024e-15	6.04481e-15	1	1	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	ENST00000327628.5	+	6	1031	c.631G>A	c.(631-633)Gat>Aat	p.D211N	TRAK1_ENST00000341421.3_Missense_Mutation_p.D153N|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.D153N|TRAK1_ENST00000449246.1_Missense_Mutation_p.D137N	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	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	ENST00000263035.4	+	5	919	c.857A>G	c.(856-858)aAt>aGt	p.N286S	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	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	ENST00000447027.1	+	31	5410	c.5352G>A	c.(5350-5352)acG>acA	p.T1784T	MUC5B_ENST00000529681.1_Silent_p.T1781T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	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
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	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.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323000													5	67					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	ENST00000273654.4	-	19	2546	c.1927A>T	c.(1927-1929)Ata>Tta	p.I643L	CCDC39_ENST00000442201.2_Missense_Mutation_p.I559L			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	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	ENST00000313599.3	-	9	2368	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	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
HNRNPCL1	343069	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	ENST00000317869.6	-	2	540	c.315C>T	c.(313-315)taC>taT	p.Y105Y		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AAGAGGAGCCGTACATCTCCG	0.493000													45	104					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142490102	142490102	+	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.chr8:142490102G>A	ENST00000430863.1	-	0	963					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		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	ENST00000300778.4	+	1	739	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	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					2.0095e-06	2.07762e-06	1	1	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	ENST00000373680.2	+	1	830	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	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	ENST00000273666.6	+	15	1700	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	STXBP5L_ENST00000472879.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D477N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	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
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	ENST00000442594.2	-	6	909	c.400G>A	c.(400-402)Gtg>Atg	p.V134M	PLD5_ENST00000536534.1_Missense_Mutation_p.V226M|PLD5_ENST00000427495.1_Missense_Mutation_p.V164M	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	226						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
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	ENST00000355612.2	-	3	637	c.602G>A	c.(601-603)gGc>gAc	p.G201D	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	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	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		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	ENST00000396328.1	-	18	3224	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A	WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000360509.5_Silent_p.A995A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	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	ENST00000368196.3	+	14	1937	c.1817C>T	c.(1816-1818)gCt>gTt	p.A606V	NTRK1_ENST00000524377.1_Missense_Mutation_p.A612V|NTRK1_ENST00000392302.2_Missense_Mutation_p.A576V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A609V	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	612	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	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
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	ENST00000398249.4	-	5	2315	c.602G>A	c.(601-603)cGc>cAc	p.R201H	GSK3A_ENST00000222330.3_Missense_Mutation_p.R283H			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	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	ENST00000437538.2	-	3	367	c.359C>T	c.(358-360)aCg>aTg	p.T120M	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.T120M|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.T166M			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	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	ENST00000538936.2	-	5	563	c.455G>A	c.(454-456)cGc>cAc	p.R152H	PCYT2_ENST00000570388.1_Missense_Mutation_p.R74H|PCYT2_ENST00000570391.1_Missense_Mutation_p.R120H|PCYT2_ENST00000538721.2_Missense_Mutation_p.R152H|PCYT2_ENST00000571105.1_Missense_Mutation_p.R152H|PCYT2_ENST00000331285.3_Missense_Mutation_p.R74H	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	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
TRIM51HP	0	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	ENST00000526016.1	-	0	168					NR_038174.2																						GTTCTTCAAACAAATGTCAGT	0.473000													16	24					1.3612e-06	1.43161e-06	1	1	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	ENST00000545554.1	+	23	5457	c.5457_splice	c.e23+1	p.E1819_splice	UNC13C_ENST00000260323.11_Splice_Site_p.E1819_splice|UNC13C_ENST00000537900.1_Splice_Site_p.E1817_splice			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	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	ENST00000394236.3	-	2	494	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	60	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|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	ENST00000409931.3	-	13	2778	c.2707G>A	c.(2707-2709)Gac>Aac	p.D903N	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	0						intracellular	protein binding|Rab GTPase activator activity	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	ENST00000340369.3	-	2	3805	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1193							actin binding	p.R1193W(1)		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
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	ENST00000369208.3	-	9	1635	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	SIM1_ENST00000262901.4_Missense_Mutation_p.L285M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	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					5.18039e-06	5.26673e-06	1	1	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	ENST00000372090.5	+	8	1608	c.1025G>C	c.(1024-1026)aGg>aCg	p.R342T	TOE1_ENST00000539779.1_Missense_Mutation_p.R262T|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	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
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	ENST00000257880.7	-	8	1390	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ITGA7_ENST00000347027.6_Missense_Mutation_p.R347C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R347C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R347C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R391C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R351C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R351C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R254C			Q13683	ITA7_HUMAN	integrin, alpha 7	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	ENST00000409514.1	+	5	547	c.505G>C	c.(505-507)Gct>Cct	p.A169P	EIF4E2_ENST00000409322.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000409495.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000258416.3_Missense_Mutation_p.A169P|EIF4E2_ENST00000409394.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000409098.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409167.3_Missense_Mutation_p.A124P			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	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
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	ENST00000331075.5	+	13	2747	c.2698C>T	c.(2698-2700)Cgg>Tgg	p.R900W	INPP5J_ENST00000402238.1_Missense_Mutation_p.R239W|INPP5J_ENST00000400294.2_Missense_Mutation_p.R533W|INPP5J_ENST00000401755.1_Missense_Mutation_p.R265W|INPP5J_ENST00000412277.2_Missense_Mutation_p.R833W|INPP5J_ENST00000405300.1_Missense_Mutation_p.R533W|INPP5J_ENST00000404390.3_Missense_Mutation_p.R532W|INPP5J_ENST00000404453.1_Missense_Mutation_p.R265W			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	900	Ser-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			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
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	ENST00000377022.3	-	11	2479_2480	c.2162_2163insAGGAGTCCAG	c.(2161-2163)aaafs	p.-721fs	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.-721fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1						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	---	---	---	---					
ANKRD36C	400986	broad.mit.edu	37	2	96517462	96517462	+	Frame_Shift_Del	DEL	T	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.chr2:96517462delT	ENST00000456556.1	-	66	5377	c.5293delA	c.(5293-5295)tcfs	p.I1765fs	ANKRD36C_ENST00000419039.2_Frame_Shift_Del_p.I792fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Del_p.I1016fs					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGCTGCAGGATTTTCTCAAAC	0.313													2	4	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	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.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													3	5	---	---	---	---					
ZNF876P	0	broad.mit.edu	37	4	247254	247255	+	RNA	DEL	TA	TA	-	rs34738994		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.chr4:247254_247255delTA	ENST00000356347.3	+	0	172					NR_027481.1																						TTTGTATAAGTATATATATATT	0.287													5	3	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100345610	100345611	+	RNA	INS	-	-	AA	rs71686325		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.chr7:100345610_100345611insAA	ENST00000542585.1	+	0	1171				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						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)			gcaagactctgaaaaaaaaaaa	0.505													3	3	---	---	---	---					
PRKG1	5592	broad.mit.edu	37	10	52834614	52834614	+	Frame_Shift_Del	DEL	C	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.chr10:52834614delC	ENST00000373980.4	+	1	681	c.264delC	c.(262-264)atfs	p.I88fs	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	74	Dimerization.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCTTCGACATCCAGGATCTCA	0.687													13	25	---	---	---	---					
RP11-51L5.5	0	broad.mit.edu	37	17	60368314	60368315	+	RNA	INS	-	-	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.chr17:60368314_60368315insT	ENST00000602493.1	-	0	273																											AGGAGGAAATGTTTTTGTTATT	0.287													6	7	---	---	---	---					
