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
KCNK1	3775	broad.mit.edu	37	1	233802400	233802400	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:233802400G>A	ENST00000366621.3	+	2	583	c.415G>A	c.(415-417)Gtc>Atc	p.V139I	KCNK1_ENST00000366620.1_Missense_Mutation_p.V23I|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	139						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CATCTACTCCGTCATTGGCAT	0.582000													25	50					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687519	68687519	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:68687519G>A	ENST00000361320.4	+	2	1423	c.845G>A	c.(844-846)cGc>cAc	p.R282H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	282						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AATCTGCAGCGCCTCAACCTG	0.458000													68	99					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916824	178916824	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:178916824G>A	ENST00000263967.3	+	2	368	c.211G>A	c.(211-213)Gta>Ata	p.V71I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	71	PI3K-ABD.				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			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)			TTACATTTTCGTAAGTGTTAC	0.353000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	161					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139903015	139903015	+	Silent	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:139903015C>T	ENST00000265662.5	-	48	7275	c.7128G>A	c.(7126-7128)ccG>ccA	p.P2376P	ABCA2_ENST00000341511.6_Silent_p.P2376P|ABCA2_ENST00000371605.3_Silent_p.P2375P			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2375					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCGGATGGCGGCTCCGTCT	0.682000													5	20					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597462	31597462	+	Silent	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:31597462G>C	ENST00000376033.2	+	14	2328	c.2094G>C	c.(2092-2094)ccG>ccC	p.P698P	PRRC2A_ENST00000376007.4_Silent_p.P698P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	698	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCCACCCCCGCCCCCCAAGG	0.652000													4	50					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114257044	114257044	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:114257044G>A	ENST00000357077.4	+	30	3475	c.3422G>A	c.(3421-3423)cGc>cAc	p.R1141H	ANK2_ENST00000264366.6_Missense_Mutation_p.R1108H|ANK2_ENST00000509550.1_Missense_Mutation_p.R317H|ANK2_ENST00000394537.3_Missense_Mutation_p.R1141H|ANK2_ENST00000506722.1_Missense_Mutation_p.R1132H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1108					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGAATCTGCCGCATCATCACC	0.463000													4	139					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33651385	33651385	+	Missense_Mutation	SNP	C	C	T	rs142717725	byFrequency	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:33651385C>T	ENST00000361680.2	+	8	1141	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	WDR88_ENST00000355868.3_Missense_Mutation_p.R355W			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	355										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AGAAGGCTACCGGAAGCTCTC	0.507000													88	211					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32613897	32613897	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:32613897C>G	ENST00000357033.4	-	13	1785	c.1579G>C	c.(1579-1581)Gct>Cct	p.A527P	DMD_ENST00000288447.4_Missense_Mutation_p.A519P|DMD_ENST00000378677.2_Missense_Mutation_p.A523P	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	527			Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCAAAGCAGCAGTTGCGTGA	0.348000													7	68					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													6	160					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84417571	84417571	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:84417571C>G	ENST00000260505.8	-	3	491	c.114G>C	c.(112-114)aaG>aaC	p.K38N	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	38	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TAATGGTTCCCTTCTTTTTCT	0.363000													4	92					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3918841	3918841	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:3918841G>C	ENST00000450849.2	+	11	1506	c.1039G>C	c.(1039-1041)Gaa>Caa	p.E347Q	ATCAY_ENST00000398448.3_Missense_Mutation_p.E353Q|ATCAY_ENST00000301260.6_Missense_Mutation_p.E347Q|ATCAY_ENST00000600960.1_Missense_Mutation_p.E347Q	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	347					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCCAGGTCTGAAGAGAAGCC	0.632000													17	90					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57567641	57567641	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:57567641C>G	ENST00000243077.3	+	22	3891	c.3425C>G	c.(3424-3426)tCc>tGc	p.S1142C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1142	LDL-receptor class A 9.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACTGCGAGTCCCTGGCCTGC	0.602000													27	104					0	0	1	0	0
YKT6	10652	broad.mit.edu	37	7	44246048	44246048	+	Silent	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:44246048A>G	ENST00000223369.2	+	3	339	c.252A>G	c.(250-252)gaA>gaG	p.E84E	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Silent_p.E84E	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	84	Longin.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						CTGACAATGAATACCCATCCC	0.483000													31	73					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67370926	67370926	+	Silent	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:67370926C>A	ENST00000371026.3	-	2	358	c.303G>T	c.(301-303)ctG>ctT	p.L101L	WDR78_ENST00000371022.3_Silent_p.L101L|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Silent_p.L101L|WDR78_ENST00000488333.1_Silent_p.L29L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	101										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTACAGTTTTCAGTTCAGGTG	0.353000													39	146					1.67305e-13	1.89077e-13	1	1	0
TNFAIP6	7130	broad.mit.edu	37	2	152222683	152222683	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:152222683C>T	ENST00000243347.3	+	3	421	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	116	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTATGGAATCCGTCTCAATAG	0.428000													35	109					0	0	1	0	0
SUDS3	64426	broad.mit.edu	37	12	118838508	118838508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:118838508C>T	ENST00000543473.1	+	7	874	c.562C>T	c.(562-564)Cga>Tga	p.R188*	SUDS3_ENST00000397564.2_Nonsense_Mutation_p.R189*	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	188	Sin3 interaction domain (SID) (By similarity).				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTGCGGAGGCGACCAAATGA	0.458000													32	100					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128767876	128767876	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:128767876G>A	ENST00000357702.5	-	7	1045	c.914C>T	c.(913-915)aCg>aTg	p.T305M	SAP130_ENST00000259235.3_Missense_Mutation_p.T305M|SAP130_ENST00000259234.6_Missense_Mutation_p.T279M	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	305					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.T305M(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CGCCGCTGTCGTAGTGATGAC	0.512000													23	57					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279456	114279456	+	Missense_Mutation	SNP	G	G	A	rs141013157	by1000genomes	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:114279456G>A	ENST00000357077.4	+	38	9735	c.9682G>A	c.(9682-9684)Gtg>Atg	p.V3228M	ANK2_ENST00000264366.6_Missense_Mutation_p.V3195M|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3195					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTCCCCACCGTGCAAACGGG	0.488000													40	50					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135205857	135205857	+	Silent	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:135205857T>C	ENST00000372169.2	-	10	1310	c.1128A>G	c.(1126-1128)ccA>ccG	p.P376P	SETX_ENST00000393220.1_Silent_p.P376P|SETX_ENST00000224140.5_Silent_p.P376P			Q7Z333	SETX_HUMAN	senataxin	376					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GACAATAATCTGGGCAAATGG	0.383000													9	139					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71743155	71743155	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr5:71743155G>A	ENST00000318442.5	-	4	2104	c.1614C>T	c.(1612-1614)tgC>tgT	p.C538C		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ATTTGCTTGGGCAATAGAGGC	0.512000													4	128					0	0	1	0	0
MFAP4	4239	broad.mit.edu	37	17	19288009	19288009	+	Silent	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:19288009G>C	ENST00000395592.2	-	6	677	c.606C>G	c.(604-606)tcC>tcG	p.S202S	MFAP4_ENST00000299610.4_Silent_p.S178S|MFAP4_ENST00000497081.2_Silent_p.S203S	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	178	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CACTGTGGTAGGACAGGGAGT	0.612000													10	130					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346584	113346584	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:113346584G>A	ENST00000452357.2	+	2	614	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	OAS1_ENST00000553185.1_Missense_Mutation_p.G142R|OAS1_ENST00000202917.5_Missense_Mutation_p.G142R|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.G142R|OAS1_ENST00000551241.1_Missense_Mutation_p.G142R	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	142	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCTCCAGCTCGGGGAGGGGGT	0.572000													24	97					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891225	11891225	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:11891225C>T	ENST00000357901.4	+	4	688	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ZNF441_ENST00000454339.2_Missense_Mutation_p.R129C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATGGACCTCGTATATGTAA	0.398000													6	191					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46709813	46709813	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr22:46709813A>T	ENST00000454366.1	+	6	1166	c.954A>T	c.(952-954)aaA>aaT	p.K318N		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	299					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCCTGTTAAAAGCACCCGGCT	0.507000											OREG0026653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	109					0	0	1	0	0
C14orf93	60686	broad.mit.edu	37	14	23457183	23457183	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:23457183G>A	ENST00000299088.6	-	6	1555	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.R376C|C14orf93_ENST00000397377.1_Missense_Mutation_p.R196C|C14orf93_ENST00000397379.3_Missense_Mutation_p.R376C|C14orf93_ENST00000397382.4_Missense_Mutation_p.R376C|C14orf93_ENST00000341470.4_Missense_Mutation_p.R376C|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	376						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		AGGGAGTTGCGGTACTCACGC	0.532000													94	129					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39267494	39267494	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr22:39267494G>T	ENST00000407418.3	-	4	360	c.237C>A	c.(235-237)ttC>ttA	p.F79L	CBX6_ENST00000216083.6_Missense_Mutation_p.F79L			O95503	CBX6_HUMAN	chromobox homolog 6	79					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CCTTCAGGAGGAAAGTTTTGG	0.642000													12	106					0.000151284	0.000156012	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123145812	123145812	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:123145812G>T	ENST00000264501.4	+	23	3146	c.2773G>T	c.(2773-2775)Gct>Tct	p.A925S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A925S|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A925S			Q2LD37	K1109_HUMAN	KIAA1109	925					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGTCTTACAGCTAAGGTCAC	0.438000													15	52					6.72482e-11	7.44695e-11	1	1	0
TUBD1	51174	broad.mit.edu	37	17	57955576	57955576	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:57955576G>A	ENST00000325752.3	-	5	934	c.657C>T	c.(655-657)atC>atT	p.I219I	TUBD1_ENST00000539018.1_Silent_p.I3I|TUBD1_ENST00000592426.1_Silent_p.I219I|TUBD1_ENST00000340993.6_Silent_p.I219I|TUBD1_ENST00000376094.4_Silent_p.I219I|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Silent_p.I219I	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	219					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			AGATCTGCTTGATATTCATCA	0.428000													4	104					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899690	133899690	+	Silent	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:133899690A>G	ENST00000220616.4	+	9	2113	c.2073A>G	c.(2071-2073)ggA>ggG	p.G691G	TG_ENST00000377869.1_Silent_p.G691G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	691	Thyroglobulin type-1 6.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTAGTGAGGGACATTTCCTGC	0.547000													4	130					0	0	1	0	0
RPL10	6134	broad.mit.edu	37	X	153627858	153627858	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:153627858G>A	ENST00000424325.2	+	4	301	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	RPL10_ENST00000369817.2_Missense_Mutation_p.R38Q|RPL10_ENST00000406022.2_5'UTR	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	38					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACCTGGGGCGGAAAAAGGCA	0.512000											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	220					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60908967	60908967	+	Silent	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr20:60908967G>C	ENST00000252999.3	-	23	2934	c.2868C>G	c.(2866-2868)acC>acG	p.T956T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	956	Domain IV 1 (domain IV B).			T -> A (in Ref. 1; AAM12527).	angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTTGGCGCAGGTGGCCGACC	0.697000													4	14					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32689715	32689715	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:32689715A>T	ENST00000421745.2	+	25	5214	c.5080A>T	c.(5080-5082)Att>Ttt	p.I1694F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1694					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCTGATGTTATTCCACCCAC	0.493000													16	38					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12883692	12883692	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:12883692G>A	ENST00000264827.5	-	5	460	c.290C>T	c.(289-291)cCa>cTa	p.P97L	HOOK2_ENST00000397668.3_Missense_Mutation_p.P97L|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	97	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCTCACATCTGGGAGATGCTC	0.602000													8	93					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103897697	103897697	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:103897697G>A	ENST00000278070.2	+	2	283	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PPRC1_ENST00000413464.2_Missense_Mutation_p.E82K	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGAAATGGAGGAGCTAATGCT	0.562000													28	31					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													9	190					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499411	150499411	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:150499411G>A	ENST00000484928.1	+	3	864	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	TMEM176A_ENST00000461345.1_Missense_Mutation_p.V36M|TMEM176A_ENST00000004103.3_Missense_Mutation_p.V95M			Q96HP8	T176A_HUMAN	transmembrane protein 176A	95						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACAGGGGCTGTGGTGAGTAG	0.582000													9	39					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63520082	63520082	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr11:63520082C>G	ENST00000377819.5	+	5	2996	c.2842C>G	c.(2842-2844)Ctc>Gtc	p.L948V	RTN3_ENST00000341307.2_Missense_Mutation_p.L152V|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.L929V|RTN3_ENST00000356000.3_Missense_Mutation_p.L171V|RTN3_ENST00000540798.1_Missense_Mutation_p.L836V|RTN3_ENST00000537981.1_Missense_Mutation_p.L152V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	948	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTATTCGTCTCTTTCTGGT	0.438000													86	175					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231786	7231786	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr18:7231786A>T	ENST00000383467.2	+	1	664	c.650A>T	c.(649-651)gAg>gTg	p.E217V		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	217										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCATCGCAGAGGGCAACAAC	0.562000													28	66					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695507	49695507	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:49695507C>G	ENST00000296452.4	+	5	8632	c.8518C>G	c.(8518-8520)Cct>Gct	p.P2840A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2840					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAGACGCTGCCTCGCCCCAT	0.612000													5	80					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110406177	110406177	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:110406177C>G	ENST00000519681.1	+	10	1008	c.566C>G	c.(565-567)cCt>cGt	p.P189R	PAK3_ENST00000372007.4_Missense_Mutation_p.P168R|PAK3_ENST00000446737.1_Missense_Mutation_p.P168R|PAK3_ENST00000425146.1_Missense_Mutation_p.P168R|PAK3_ENST00000262836.4_Missense_Mutation_p.P183R|PAK3_ENST00000372010.1_Missense_Mutation_p.P183R|PAK3_ENST00000417227.1_Missense_Mutation_p.P189R|PAK3_ENST00000360648.4_Missense_Mutation_p.P204R|PAK3_ENST00000518291.1_Missense_Mutation_p.P204R			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	183	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCATTGGCCCCTCCTGTGTCt	0.388000										TSP Lung(19;0.15)			66	60					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007563	56007563	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:56007563A>G	ENST00000429591.2	+	4	1195	c.1157A>G	c.(1156-1158)aAa>aGa	p.K386R	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAACCCTATAAATGTAATGAA	0.408000													37	84					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55361683	55361683	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr16:55361683C>A	ENST00000290552.7	+	4	1931	c.599C>A	c.(598-600)gCa>gAa	p.A200E	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTCGCCAACGCACGCCGGCGC	0.577000													38	64					1.04352e-10	1.14787e-10	1	1	0
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:7578176C>A	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAACCAGACCTCAGGCGGC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	49					6.94344e-10	7.58721e-10	1	1	0
SLC35F5	80255	broad.mit.edu	37	2	114482973	114482973	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:114482973G>C	ENST00000245680.2	-	12	1645	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	411					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CAGGAACTCTGAGAGTACTGT	0.313000													24	325					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94250312	94250312	+	Translation_Start_Site	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:94250312G>C	ENST00000371581.5	-	0	130				IDE_ENST00000265986.6_Missense_Mutation_p.R491G|IDE_ENST00000496903.1_5'UTR	NM_001165946.1	NP_001159418.1	P14735	IDE_HUMAN	insulin-degrading enzyme						beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCTGTGCGATCAGTTTTT	0.358000													6	235					0	0	1	0	0
IPP	3652	broad.mit.edu	37	1	46211901	46211901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:46211901G>T	ENST00000396478.3	-	2	285	c.183C>A	c.(181-183)taC>taA	p.Y61*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	61	BTB.					actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAGCTGCAAAGTAAGGACTGC	0.418000													31	65					1.16021e-09	1.2512e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179481676	179481676	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:179481676G>C	ENST00000589042.1	-	256	48164	c.47940C>G	c.(47938-47940)atC>atG	p.I15980M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I6915M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7040M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I13412M|TTN_ENST00000342175.6_Missense_Mutation_p.I7107M|TTN_ENST00000591111.1_Missense_Mutation_p.I14339M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14339	Fibronectin type-III 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGATCGTGATAGGATTTG	0.418000													26	190					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32930698	32930698	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:32930698G>A	ENST00000544455.1	+	15	7796	c.7569G>A	c.(7567-7569)ctG>ctA	p.L2523L	BRCA2_ENST00000380152.3_Silent_p.L2523L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2523	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAATCTCTCTGAAAGCAGCAG	0.428000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	121					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													4	171					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331451	42331451	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr20:42331451G>A	ENST00000217026.4	+	8	1400	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	MYBL2_ENST00000396863.4_Missense_Mutation_p.E401K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	425						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCTGTCACTGAGAATAGCAC	0.612000													10	55					0	0	1	0	0
FBXL5	26234	broad.mit.edu	37	4	15627093	15627093	+	Silent	SNP	C	C	A	rs143532809		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:15627093C>A	ENST00000341285.3	-	9	1756	c.1632G>T	c.(1630-1632)gcG>gcT	p.A544A	FBXL5_ENST00000382358.4_Silent_p.A418A|FBXL5_ENST00000412094.2_Silent_p.A527A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	544					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						GACCACAATACGCAAAGGCTG	0.428000													20	29					8.10497e-08	8.62787e-08	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64600997	64600997	+	Splice_Site	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:64600997C>G	ENST00000498707.1	-	21	3531	c.3189_splice	c.e21+1	p.E1063_splice	ADAMTS9_ENST00000295903.4_Splice_Site_p.E1035_splice	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1063	TSP type-1 5.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCATCTTACCTCTGACCAGT	0.458000													40	64					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014013	127014013	+	Silent	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:127014013T>C	ENST00000393313.1	-	5	1968	c.1377A>G	c.(1375-1377)aaA>aaG	p.K459K	ZNF800_ENST00000265827.3_Silent_p.K459K|ZNF800_ENST00000393312.1_Silent_p.K459K			Q2TB10	ZN800_HUMAN	zinc finger protein 800	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GACTAGTTGATTTAGGGCTTT	0.383000													32	121					0	0	1	0	0
FAM86B3P	286042	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:8095990C>G	ENST00000523017.1	-	0	608																											CCAGGAGCCCCGAGACCTGCA	0.647000													3	4					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65157042	65157042	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:65157042A>G	ENST00000371073.2	+	27	3623	c.3623A>G	c.(3622-3624)aAt>aGt	p.N1208S	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.N1157S			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1208					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GACAGTGAAAATCCTCCATGC	0.502000													45	90					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													5	70					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220472994	220472994	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:220472994C>T	ENST00000456909.1	+	14	1535	c.1445C>T	c.(1444-1446)tCa>tTa	p.S482L	STK11IP_ENST00000295641.10_Missense_Mutation_p.S493L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	493					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCAGGAGTCACCACAGAAA	0.632000													7	17					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23535193	23535193	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:23535193T>C	ENST00000262710.1	-	10	2791	c.2464A>G	c.(2464-2466)Agg>Ggg	p.R822G	ACIN1_ENST00000605057.1_Missense_Mutation_p.R764G|ACIN1_ENST00000555053.1_Missense_Mutation_p.R822G|ACIN1_ENST00000457657.1_Missense_Mutation_p.R782G|ACIN1_ENST00000557515.1_Missense_Mutation_p.R64G|ACIN1_ENST00000338631.6_Missense_Mutation_p.R95G|ACIN1_ENST00000357481.2_Missense_Mutation_p.R64G|ACIN1_ENST00000397341.3_Missense_Mutation_p.R64G	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	822					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAGATCTTCCTCTTGAATGAT	0.438000													44	51					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	26					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115161057	115161057	+	Missense_Mutation	SNP	T	T	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:115161057T>G	ENST00000393274.1	-	8	1899	c.1274A>C	c.(1273-1275)aAg>aCg	p.K425T	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.K368T|DENND2C_ENST00000393277.1_Missense_Mutation_p.K425T	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	425										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTACCTTCTTCTTCCCTCT	0.348000													31	63					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79773141	79773141	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr5:79773141C>G	ENST00000338008.5	+	18	4745	c.4565C>G	c.(4564-4566)tCt>tGt	p.S1522C	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S1522C|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S1522C	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1522					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACCTCCAACTCTAGTTTACCA	0.353000													6	71					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172526904	172526904	+	Silent	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:172526904A>G	ENST00000367723.3	+	6	1303	c.1179A>G	c.(1177-1179)gcA>gcG	p.A393A	SUCO_ENST00000263688.3_Silent_p.A234A	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CAAAATCTGCATTGAATGCTT	0.308000													12	61					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1369145	1369145	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:1369145G>T	ENST00000446702.2	+	10	1715	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I	CNTN6_ENST00000539053.1_Missense_Mutation_p.R291I|CNTN6_ENST00000350110.2_Missense_Mutation_p.R363I			Q9UQ52	CNTN6_HUMAN	contactin 6	363	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TATTAGGAGAGAATTCAAATA	0.318000													13	41					0.0135373	0.0137034	1	1	0
PLEC	5339	broad.mit.edu	37	8	145001196	145001196	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:145001196G>A	ENST00000322810.4	-	29	4474	c.4305C>T	c.(4303-4305)tcC>tcT	p.S1435S	PLEC_ENST00000345136.3_Silent_p.S1298S|PLEC_ENST00000398774.2_Silent_p.S1266S|PLEC_ENST00000527096.1_Silent_p.S1321S|PLEC_ENST00000436759.2_Silent_p.S1325S|PLEC_ENST00000356346.3_Silent_p.S1284S|PLEC_ENST00000354958.2_Silent_p.S1276S|PLEC_ENST00000354589.3_Silent_p.S1298S|PLEC_ENST00000357649.2_Silent_p.S1302S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1435	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTTGGCCGGGGAGGCCACCG	0.642000													28	46					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350953	50350953	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:50350953G>A	ENST00000376020.2	-	6	3214	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	SHROOM4_ENST00000460112.3_Silent_p.I947I|SHROOM4_ENST00000289292.7_Silent_p.I1063I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1063					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCGCCAAGCTGATGTGACTCT	0.572000													9	34					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115161065	115161065	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:115161065T>A	ENST00000393274.1	-	8	1891	c.1266A>T	c.(1264-1266)agA>agT	p.R422S	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R365S|DENND2C_ENST00000393277.1_Missense_Mutation_p.R422S	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	422										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTCTTCCCTCTTTTAGATT	0.348000													27	60					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000269305.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	17					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102029346	102029346	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:102029346C>T	ENST00000251127.6	-	5	518	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	NALCN_ENST00000376200.5_Missense_Mutation_p.R146Q|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R146Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	146						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATCAGTGGCCGTGGAATCCG	0.398000													6	95					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164714392	164714392	+	Silent	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:164714392G>C	ENST00000264382.3	-	40	4685	c.4623C>G	c.(4621-4623)ctC>ctG	p.L1541L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1541	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGCGGGTACAGAGATGATATT	0.303000										HNSCC(35;0.089)			19	300					0	0	1	0	0
CXorf40B	541578	broad.mit.edu	37	X	149100951	149100951	+	Silent	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:149100951G>C	ENST00000370406.3	-	5	1116	c.288C>G	c.(286-288)ccC>ccG	p.P96P	CXorf40B_ENST00000370404.1_Silent_p.P96P|CXorf40B_ENST00000462691.1_Silent_p.P96P|CXorf40B_ENST00000355203.2_Silent_p.P96P			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	96										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TTAAGTCTTCGGGGCATTGCA	0.483000													43	32					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309554	37309554	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:37309554G>C	ENST00000356725.4	-	5	1812	c.1692C>G	c.(1690-1692)tgC>tgG	p.C564W	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACTTTTCTTGCATCCATAAG	0.363000													17	255					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183853897	183853897	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:183853897G>A	ENST00000304685.3	+	8	1342	c.881G>A	c.(880-882)tGc>tAc	p.C294Y	RGL1_ENST00000539189.1_Missense_Mutation_p.C259Y|RGL1_ENST00000367531.1_Missense_Mutation_p.C294Y|RGL1_ENST00000360851.3_Missense_Mutation_p.C259Y|RGL1_ENST00000536277.1_Missense_Mutation_p.C257Y	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	259	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGCCTGGGCTGCATTTGGTCT	0.453000													26	57					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16895631	16895631	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:16895631A>G	ENST00000430580.2	-	23	3438	c.2551T>C	c.(2551-2553)Tct>Cct	p.S851P	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	851	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCGCTGTAAGACTTGTACGAG	0.488000													115	1139					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837559	29837559	+	Silent	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr22:29837559C>G	ENST00000354373.2	+	2	611	c.402C>G	c.(400-402)gcC>gcG	p.A134A	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	134	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCGACACAGCCAACAACTTCC	0.488000													15	188					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151936670	151936670	+	Silent	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:151936670C>A	ENST00000367290.5	+	10	1913	c.1824C>A	c.(1822-1824)ctC>ctA	p.L608L	CCDC170_ENST00000239374.7_Silent_p.L601L			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	601																	AGAAAAAGCTCATGTCTGTCA	0.393000													33	171					2.42023e-17	2.75406e-17	1	1	0
HTR5A	3361	broad.mit.edu	37	7	154863064	154863064	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:154863064G>A	ENST00000287907.2	+	1	1031	c.455G>A	c.(454-456)cGc>cAc	p.R152H	AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	152						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TACACGCTCCGCACCCGCAAG	0.627000													18	34					0	0	1	0	0
SNRNP40	9410	broad.mit.edu	37	1	31734445	31734445	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:31734445T>A	ENST00000263694.4	-	9	973	c.955A>T	c.(955-957)Ata>Tta	p.I319L	SNRNP40_ENST00000446633.2_Missense_Mutation_p.I319L|SNRNP40_ENST00000373720.3_Missense_Mutation_p.I89L|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	319						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TTATACAATATTCTCCTGCTT	0.502000													17	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179480379	179480379	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:179480379G>C	ENST00000589042.1	-	258	48673	c.48449C>G	c.(48448-48450)tCa>tGa	p.S16150*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S7085*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S7210*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S13582*|TTN_ENST00000342175.6_Nonsense_Mutation_p.S7277*|TTN_ENST00000591111.1_Nonsense_Mutation_p.S14509*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14509	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGGAGTTGACATATTTAC	0.403000													15	266					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243434354	243434354	+	Missense_Mutation	SNP	A	A	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:243434354A>C	ENST00000366541.3	+	3	413	c.295A>C	c.(295-297)Atg>Ctg	p.M99L	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.M99L|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.M99L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	99					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AAGAAGAAAAATGTCCCCCTT	0.353000													17	59					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40702833	40702833	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr15:40702833A>G	ENST00000249760.2	+	4	636	c.293A>G	c.(292-294)tAt>tGt	p.Y98C	IVD_ENST00000487418.2_Missense_Mutation_p.Y101C|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000479013.2_Missense_Mutation_p.Y71C	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	98					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		ACAGTTCAGTATGGCGGCTCC	0.547000													9	83					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84695244	84695244	+	Silent	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr16:84695244C>T	ENST00000564996.1	+	5	1497	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	KLHL36_ENST00000258157.5_Silent_p.H389H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	452										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGGGGGGCCACGACTACCAAA	0.647000													9	158					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143016950	143016950	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:143016950C>T	ENST00000343257.2	+	2	370	c.283C>T	c.(283-285)Cac>Tac	p.H95Y		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	95					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGATGAGGATCACTATTCTAA	0.463000													46	117					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443000													4	21					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891446	11891446	+	Silent	SNP	A	A	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:11891446A>C	ENST00000357901.4	+	4	909	c.807A>C	c.(805-807)ctA>ctC	p.L269L	ZNF441_ENST00000454339.2_Silent_p.L202L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACACTCAACTATATGAAAGGA	0.388000													6	142					0	0	1	0	0
UBAC2	337867	broad.mit.edu	37	13	100037518	100037518	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:100037518G>A	ENST00000376440.2	+	7	1362	c.859G>A	c.(859-861)Gat>Aat	p.D287N	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000403766.3_Missense_Mutation_p.D322N	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	322						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCCAGAGGTGATGCTTTGGA	0.572000													9	81					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105269038	105269038	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:105269038T>C	ENST00000306107.5	+	12	1942	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A	ALCAM_ENST00000472644.2_Missense_Mutation_p.V481A|ALCAM_ENST00000389927.4_Missense_Mutation_p.V203A|ALCAM_ENST00000486979.2_Missense_Mutation_p.V430A	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	481	Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAGAGAATGTTACATTAACT	0.343000													69	296					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19713857	19713857	+	Silent	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:19713857A>G	ENST00000284885.3	-	13	1470	c.1437T>C	c.(1435-1437)ttT>ttC	p.F479F		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	479	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TAAAAGCATTAAAAGCAACCT	0.373000													33	97					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10471914	10471914	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr18:10471914G>A	ENST00000355285.4	+	3	984	c.630G>A	c.(628-630)caG>caA	p.Q210Q	APCDD1_ENST00000584596.1_3'UTR|APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	210					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ATGAACTTCAGCTCATCCGGG	0.582000													52	192					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													6	89					0.00116845	0.00119008	1	1	0
GSE1	23199	broad.mit.edu	37	16	85689393	85689393	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr16:85689393G>A	ENST00000253458.7	+	6	1035	c.859G>A	c.(859-861)Ggc>Agc	p.G287S	GSE1_ENST00000393243.1_Missense_Mutation_p.G214S|GSE1_ENST00000405402.2_Missense_Mutation_p.G183S	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		CCCCACCCCCGGCTCCCTGCC	0.652000													28	47					0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186329493	186329493	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:186329493T>C	ENST00000264689.6	-	8	1044	c.928A>G	c.(928-930)Atc>Gtc	p.I310V		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	310						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CAAGAGCAGATAGTCTGCAGA	0.413000													73	81					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92445286	92445286	+	Missense_Mutation	SNP	T	T	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:92445286T>G	ENST00000370389.2	+	8	1964	c.1040T>G	c.(1039-1041)gTt>gGt	p.V347G	BRDT_ENST00000402388.1_Missense_Mutation_p.V420G|BRDT_ENST00000399546.2_Missense_Mutation_p.V420G|BRDT_ENST00000394530.3_Missense_Mutation_p.V374G|BRDT_ENST00000362005.3_Missense_Mutation_p.V420G	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	420	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GATGAGCGAGTTAAGCGTCTT	0.383000													12	99					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101794107	101794107	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr5:101794107C>A	ENST00000506729.1	-	6	1281	c.1110G>T	c.(1108-1110)aaG>aaT	p.K370N	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.K370N|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.K308N|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	370						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACATAAATCCTTGATATTAG	0.303000													83	91					9.10895e-26	1.05843e-25	1	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	40					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47360053	47360053	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:47360053A>T	ENST00000400314.1	+	15	1357	c.1019A>T	c.(1018-1020)cAg>cTg	p.Q340L	PCBP3_ENST00000400304.1_Missense_Mutation_p.Q330L|PCBP3_ENST00000400308.1_Missense_Mutation_p.Q314L|PCBP3_ENST00000400309.1_Missense_Mutation_p.Q339L|PCBP3_ENST00000400310.1_Missense_Mutation_p.Q320L|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000449640.1_Missense_Mutation_p.Q340L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	340	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCAGAGCGTCAGATCACCATC	0.547000													4	109					0	0	1	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161146937	161146937	+	RNA	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:161146937G>A	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						AATTTTGTTGGCAACATCCAA	0.378000													5	207					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97580562	97580562	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:97580562G>T	ENST00000369261.4	+	10	2003	c.1640G>T	c.(1639-1641)gGg>gTg	p.G547V	KLHL32_ENST00000539200.1_Missense_Mutation_p.G478V|KLHL32_ENST00000544166.1_Missense_Mutation_p.G103V|KLHL32_ENST00000536676.1_Missense_Mutation_p.G511V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	547										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GTCCATAATGGGAGAATATAT	0.333000													7	95					0.000274275	0.000281089	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104499572	104499572	+	Silent	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:104499572C>T	ENST00000361820.3	-	1	1290	c.690G>A	c.(688-690)cgG>cgA	p.R230R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	230					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCTGACTCTCCCGTGGAAACT	0.602000													26	31					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21875274	21875274	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:21875274G>T	ENST00000377072.3	+	4	640	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	MLLT10_ENST00000307729.7_Missense_Mutation_p.G98W|MLLT10_ENST00000446906.2_Missense_Mutation_p.G98W|MLLT10_ENST00000377059.3_Missense_Mutation_p.G98W|MLLT10_ENST00000495130.1_3'UTR	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	98	Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AACAGATAATGGGGGTAAGTG	0.269000			T	"""MLL, PICALM, CDK6"""	AL								9	40					1.08611e-07	1.14877e-07	1	1	0
EZH2	2146	broad.mit.edu	37	7	148524338	148524338	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:148524338G>A	ENST00000320356.2	-	7	767	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	EZH2_ENST00000536783.1_Missense_Mutation_p.R107W|EZH2_ENST00000476773.1_Missense_Mutation_p.R207W|EZH2_ENST00000541220.1_Missense_Mutation_p.R207W|EZH2_ENST00000483967.1_Missense_Mutation_p.R207W|EZH2_ENST00000350995.2_Missense_Mutation_p.R177W|EZH2_ENST00000460911.1_Missense_Mutation_p.R216W|EZH2_ENST00000478654.1_Missense_Mutation_p.R207W	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	216	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GGAAATTTCCGAGGTGGGCGG	0.338000			Mis		DLBCL								7	202					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136535737	136535737	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:136535737G>A	ENST00000371872.4	-	19	2721	c.2464C>T	c.(2464-2466)Cgc>Tgc	p.R822C	SARDH_ENST00000371868.1_Missense_Mutation_p.R250C|SARDH_ENST00000439388.1_Missense_Mutation_p.R822C|SARDH_ENST00000422262.2_Missense_Mutation_p.R654C	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	822					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGGCGCCGGCGGAGGCCTGCG	0.692000													3	6					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52620117	52620117	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr15:52620117G>A	ENST00000399231.3	-	35	4810	c.4567C>T	c.(4567-4569)Ctg>Ttg	p.L1523L	MYO5A_ENST00000399233.2_Silent_p.L1520L|MYO5A_ENST00000356338.6_Silent_p.L1496L|MYO5A_ENST00000553916.1_Silent_p.L1521L|MYO5A_ENST00000358212.6_Silent_p.L1548L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1523					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCATCATTCAGGTAGTCAGCA	0.378000													30	219					0	0	1	0	0
HSPE1	3336	broad.mit.edu	37	2	198365864	198365864	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:198365864G>A	ENST00000233893.5	+	2	513	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	HSPE1_ENST00000465573.1_Intron|HSPE1_ENST00000409729.1_Intron|HSPE1_ENST00000409468.1_Missense_Mutation_p.E24K|MOB4_ENST00000604458.1_Missense_Mutation_p.E24K	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			GAGTGCTGCTGAAACTGTAAC	0.408000													7	91					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32816571	32816571	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:32816571G>C	ENST00000354258.4	-	7	1765	c.1604C>G	c.(1603-1605)tCa>tGa	p.S535*	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Nonsense_Mutation_p.S274*	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	535	Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TATTTTCTCTGAGGAGCCCAC	0.522000													6	94					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105593155	105593155	+	Silent	SNP	T	T	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:105593155T>G	ENST00000258530.3	-	10	1084	c.859A>C	c.(859-861)Aga>Cga	p.R287R	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Silent_p.R244R|APPL2_ENST00000551662.1_Silent_p.R293R	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	287	PH.|Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTCACTTTCTAAGATTAAGG	0.453000													25	52					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112054574	112054574	+	Silent	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:112054574C>A	ENST00000371959.3	-	3	1439	c.1440G>T	c.(1438-1440)gtG>gtT	p.V480V	AMOT_ENST00000371962.1_Silent_p.V248V|AMOT_ENST00000524145.1_Silent_p.V480V|AMOT_ENST00000371958.1_Silent_p.V248V|AMOT_ENST00000304758.1_Silent_p.V71V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	480					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AGGATGACTTCACGAGGTTCT	0.488000													5	123					8.12818e-05	8.43491e-05	1	1	0
FAM161B	145483	broad.mit.edu	37	14	74411446	74411446	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:74411446G>A	ENST00000286544.3	-	3	904	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	FAM161B_ENST00000534936.1_Missense_Mutation_p.R173W	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CGGAATGGCCGAGGGACAGTA	0.667000													23	36					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35211469	35211469	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:35211469G>A	ENST00000274938.7	+	16	2008	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	SCUBE3_ENST00000394681.1_Missense_Mutation_p.D686N	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	670					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCTCTCCTGCGACCTTTGCCC	0.622000													4	72					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71629092	71629092	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:71629092G>C	ENST00000409544.1	+	16	3334	c.2704G>C	c.(2704-2706)Gaa>Caa	p.E902Q	ZNF638_ENST00000355812.3_Missense_Mutation_p.E902Q|ZNF638_ENST00000264447.4_Missense_Mutation_p.E902Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	902					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAAGGAAACAGAAGAAATGTG	0.264000													12	54					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43473378	43473378	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:43473378G>A	ENST00000532038.1	-	14	1826	c.1691C>T	c.(1690-1692)tCg>tTg	p.S564L	ARHGAP27_ENST00000428638.1_Missense_Mutation_p.S786L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S764L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S418L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S445L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S759L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S445L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	786	PH.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCGGAAGTGCGAGAAGGGGAA	0.667000													8	20					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26409904	26409904	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:26409904G>C	ENST00000289361.6	+	5	1227	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	BTN3A1_ENST00000476549.2_Missense_Mutation_p.E287Q|BTN3A1_ENST00000425234.2_Missense_Mutation_p.E287Q|BTN3A1_ENST00000414912.2_Missense_Mutation_p.E235Q	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	287					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAAAAAGAGAGAGCAAGAGTT	0.507000													16	161					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64881045	64881045	+	Silent	SNP	G	G	C	rs144634488	by1000genomes	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr11:64881045G>C	ENST00000279263.7	+	5	744	c.582G>C	c.(580-582)ctG>ctC	p.L194L	TM7SF2_ENST00000345348.5_Silent_p.L194L|TM7SF2_ENST00000531029.1_Intron|TM7SF2_ENST00000540748.1_Silent_p.L78L	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	194					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTGTGAACTGCGACCCGGCC	0.557000													93	220					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526050	176526050	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:176526050C>T	ENST00000367662.3	+	2	1756	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R198C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	198					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTCCAGGCAGCGTCGCCAAGT	0.577000													24	115					0	0	1	0	0
PCBP1	5093	broad.mit.edu	37	2	70315336	70315336	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:70315336C>A	ENST00000303577.5	+	1	752	c.461C>A	c.(460-462)tCt>tAt	p.S154Y	PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	154	KH 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GTGCCGCAGTCTGTCACCGAG	0.627000													26	43					3.28513e-13	3.68739e-13	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24923764	24923764	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr15:24923764G>A	ENST00000329468.2	+	1	3224	c.2750G>A	c.(2749-2751)gGg>gAg	p.G917E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTTATTCTGGGGAATCCAGCA	0.478000													6	140					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152527354	152527354	+	Silent	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:152527354T>C	ENST00000367255.5	-	126	23569	c.22968A>G	c.(22966-22968)tcA>tcG	p.S7656S	SYNE1_ENST00000265368.4_Silent_p.S7656S|SYNE1_ENST00000356820.4_Silent_p.S2180S|SYNE1_ENST00000448038.1_Silent_p.S7585S|SYNE1_ENST00000423061.1_Silent_p.S7585S|SYNE1_ENST00000341594.5_Silent_p.S7268S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7656					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATGCTGGCTGATTTCCATT	0.483000										HNSCC(10;0.0054)			24	57					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999025	143999025	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:143999025T>C	ENST00000323110.2	-	1	234	c.232A>G	c.(232-234)Att>Gtt	p.I78V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	78					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TACCTGAAAATGGGCCCCAGC	0.632000									Familial Hyperaldosteronism type I				43	97					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738818	84738818	+	Missense_Mutation	SNP	G	G	C	rs144926296	by1000genomes	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:84738818G>C	ENST00000372142.2	+	9	1136	c.862G>C	c.(862-864)Gca>Cca	p.A288P	NRG3_ENST00000404547.1_Missense_Mutation_p.A509P|NRG3_ENST00000404576.2_Missense_Mutation_p.A313P|NRG3_ENST00000372141.2_Missense_Mutation_p.A509P|NRG3_ENST00000556918.1_Missense_Mutation_p.A339P|NRG3_ENST00000545131.1_Missense_Mutation_p.A159P|NRG3_ENST00000537893.1_Missense_Mutation_p.A159P	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	509	EGF-like.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGTGGGACCAGCATATCAGCA	0.517000													19	34					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166986935	166986935	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:166986935C>T	ENST00000061240.2	+	16	2755	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	TLL1_ENST00000507499.1_Missense_Mutation_p.S726F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	703	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGATCACATCCCAGTTCAAC	0.398000													21	92					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55178164	55178164	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:55178164C>A	ENST00000391736.1	+	12	1320	c.1005C>A	c.(1003-1005)aaC>aaA	p.N335K	LILRB4_ENST00000391734.3_Missense_Mutation_p.N335K|LILRB4_ENST00000391733.3_Missense_Mutation_p.N336K|LILRB4_ENST00000430952.2_Missense_Mutation_p.N335K|LILRB4_ENST00000270452.2_Missense_Mutation_p.N335K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	335			N -> D (in dbSNP:rs11574576).			integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCGTGAAGAACACACAGCCTG	0.612000													40	60					1.04594e-18	1.19847e-18	1	1	0
PRCP	5547	broad.mit.edu	37	11	82571062	82571062	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr11:82571062T>C	ENST00000313010.3	-	2	460	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	PRCP_ENST00000393399.2_Missense_Mutation_p.Y110C|PRCP_ENST00000535099.1_Intron	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	89					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATTACCAGTGTAGAAAAGTAT	0.338000													12	109					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863065	154863065	+	Silent	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:154863065C>A	ENST00000287907.2	+	1	1032	c.456C>A	c.(454-456)cgC>cgA	p.R152R	AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	152						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACACGCTCCGCACCCGCAAGT	0.622000													18	34					2.4624e-09	2.63828e-09	1	1	0
NBAS	51594	broad.mit.edu	37	2	15615864	15615864	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:15615864C>G	ENST00000281513.5	-	14	1313	c.1288G>C	c.(1288-1290)Gaa>Caa	p.E430Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E430Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	430										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGTGATGGTTCAAACCATTCA	0.398000													24	50					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933063	39933063	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:39933063G>A	ENST00000342274.4	-	4	1898	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	BCOR_ENST00000397354.3_Silent_p.P512P|BCOR_ENST00000378444.4_Silent_p.P512P|BCOR_ENST00000378455.4_Silent_p.P512P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	512	Interaction with BCL6.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GACTTGGCCCGGGCACCACCC	0.502000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						3	46					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180016043	180016043	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:180016043G>C	ENST00000428443.3	-	6	761	c.445C>G	c.(445-447)Ctc>Gtc	p.L149V		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	149	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCATAGGTGAGACTCCCACCA	0.313000													27	101					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41741069	41741069	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:41741069G>A	ENST00000400454.1	-	4	1089	c.612C>T	c.(610-612)acC>acT	p.T204T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	204	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCGTCTCTCCGGTGTATCGAT	0.438000													18	80					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848734	215848734	+	Silent	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:215848734C>G	ENST00000366943.2	-	63	12905	c.12519G>C	c.(12517-12519)ctG>ctC	p.L4173L	USH2A_ENST00000307340.3_Silent_p.L4173L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4173	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGACCAGCTCAGCTCAACAC	0.522000										HNSCC(13;0.011)			16	85					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452833	100452833	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:100452833G>A	ENST00000279907.7	-	14	2434	c.2222C>T	c.(2221-2223)cCg>cTg	p.P741L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.P391L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	741								p.P741L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACAAGTCTGCGGCTCTTTTTG	0.403000													43	133					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746372	145746372	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:145746372G>A	ENST00000292524.1	+	4	1138	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	LRRC14_ENST00000529022.1_Missense_Mutation_p.R331Q	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	331										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCTGGCACGGAGCCCACAT	0.622000													88	227					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141427199	141427199	+	Silent	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:141427199C>G	ENST00000397541.2	+	10	1894	c.1488C>G	c.(1486-1488)ctC>ctG	p.L496L	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	496					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CAGAAGAGCTCCAACAGCAGC	0.468000													79	157					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43857620	43857620	+	Silent	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:43857620T>C	ENST00000319294.6	+	11	1447	c.1416T>C	c.(1414-1416)ggT>ggC	p.G472G	UBASH3A_ENST00000398367.1_Silent_p.G434G|UBASH3A_ENST00000291535.6_Silent_p.G434G	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	472	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGGACAGTGGTATCAGAATCA	0.537000													17	61					0	0	1	0	0
TRMT10C	54931	broad.mit.edu	37	3	101284667	101284667	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:101284667A>T	ENST00000309922.6	+	2	1196	c.1042A>T	c.(1042-1044)Aac>Tac	p.N348Y		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		GGAAATTGGTAACAAAAATCT	0.393000													23	76					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40618496	40618496	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:40618496G>A	ENST00000343619.4	+	3	290	c.167G>A	c.(166-168)aGa>aAa	p.R56K	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.R56K	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	56					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AATGAAGTTAGAAGATGTGAA	0.308000													8	103					0	0	1	0	0
LOC101929735	101929735	broad.mit.edu	37	14	22925625	22925625	+	RNA	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:22925625G>C	ENST00000514473.2	-	0	225																											AGATGAATTAGACTGACAGGG	0.458000													11	75					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205307704	205307704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:205307704G>A	ENST00000367156.3	-	8	1594	c.778C>T	c.(778-780)Cga>Tga	p.R260*	KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	260										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAGAACGATCGTTCCATCTTC	0.517000													14	35					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15760415	15760416	+	Frame_Shift_Ins	INS	-	-	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:15760415_15760416insT	ENST00000381341.2	+	18	1679_1680	c.1290_1291insT	c.(1288-1293)gataaafs	p.K431fs	DDX1_ENST00000233084.3_Frame_Shift_Ins_p.K431fs			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	431	Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CATGGGTTGACTTAAAAGGAGA	0.426													30	88	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43452555	43452556	+	Frame_Shift_Ins	INS	-	-	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:43452555_43452556insA	ENST00000282388.3	-	2	680_681	c.387_388insT	c.(385-390)gagcagfs	p.EQ129fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	129					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCTGGCTGCGATCGCCGTTCT	0.658													15	22	---	---	---	---					
IMMT	10989	broad.mit.edu	37	2	86371918	86371919	+	Frame_Shift_Ins	INS	-	-	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:86371918_86371919insT	ENST00000410111.3	-	15	2136_2137	c.1749_1750insA	c.(1747-1752)tcctgcfs	p.C584fs	IMMT_ENST00000442664.2_Frame_Shift_Ins_p.C583fs|IMMT_ENST00000449247.2_Frame_Shift_Ins_p.C573fs|IMMT_ENST00000409051.2_Frame_Shift_Ins_p.C537fs|IMMT_ENST00000254636.5_Frame_Shift_Ins_p.C485fs	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	584						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTTCTGCAGATGAGGTCTTCA	0.470													34	31	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)cafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													8	125	---	---	---	---					
RP11-432J24.5	0	broad.mit.edu	37	10	134331671	134331671	+	RNA	DEL	G	G	-			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:134331671delG	ENST00000455414.1	-	0	24																											ACTGCTGCGAGGGAAGGAGCC	0.617													2	4	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48941665	48941681	+	Frame_Shift_Del	DEL	TCTTAAAAATAAAGATC	TCTTAAAAATAAAGATC	-			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:48941665_48941681delTCTTAAAAATAAAGATC	ENST00000267163.4	+	10	1113_1129	c.975_991delTCTTAAAAATAAAGATC	c.(973-993)tatafs	p.YLKNKDL325fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	325					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)|p.Y325*(2)|p.N328H(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGAAATTTATCTTAAAAATAAAGATCTAGATGCAAG	0.304		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			36	106	---	---	---	---