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
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	64					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	139					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169435568	169435568	+	Missense_Mutation	SNP	T	T	C	rs145444170	byFrequency	TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:169435568T>C	ENST00000256935.8	+	31	3220	c.3140T>C	c.(3139-3141)tTc>tCc	p.F1047S	DOCK2_ENST00000540750.1_Missense_Mutation_p.F108S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.F539S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1047	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGAGCAGTTCTCACACGCC	0.448000													6	59					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41566476	41566476	+	Silent	SNP	T	T	C			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr22:41566476T>C	ENST00000263253.7	+	27	5572	c.4353T>C	c.(4351-4353)caT>caC	p.H1451H	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1451					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCATTGCCATCCTCCTGACC	0.428000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				9	64					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882004	42882004	+	Silent	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr17:42882004G>A	ENST00000426548.1	-	3	1451	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	GJC1_ENST00000590758.1_Silent_p.V394V|GJC1_ENST00000592524.1_Silent_p.V394V|GJC1_ENST00000330514.4_Silent_p.V394V	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	394					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ATTAAATCCAGACGGAGGTCT	0.488000													16	122					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1024966	1024966	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr11:1024966G>A	ENST00000421673.2	-	24	3153	c.3103C>T	c.(3103-3105)Ccg>Tcg	p.P1035S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1035	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCACAGCGGGCTCTCCTTC	0.617000													3	34					0	0	1	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332578	71332578	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr10:71332578C>G	ENST00000242462.4	-	2	251	c.222G>C	c.(220-222)gaG>gaC	p.E74D		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	74					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TCAGTGCCAACTCGCTCTTAG	0.692000													3	18					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50312662	50312662	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:50312662T>C	ENST00000338821.5	-	6	781	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	173					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGAAGATCATGTCGGCAGGG	0.448000													7	43					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22012589	22012589	+	Silent	SNP	C	C	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr12:22012589C>A	ENST00000261200.4	-	20	2435	c.2436G>T	c.(2434-2436)ctG>ctT	p.L812L	ABCC9_ENST00000261201.4_Silent_p.L812L|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.L776L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	812	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTCCCCCACTCAGGTTGATGC	0.383000													16	139					9.7654e-05	9.98241e-05	1	1	0
OR10X1	128367	broad.mit.edu	37	1	158548933	158548933	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:158548933C>T	ENST00000368150.1	-	1	756	c.757G>A	c.(757-759)Gcc>Acc	p.A253T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTGGTGAAGGCCTTCTGCTTG	0.483000													19	123					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092723	79092723	+	Silent	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr15:79092723G>A	ENST00000388820.4	-	2	477	c.267C>T	c.(265-267)cgC>cgT	p.R89R	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	89					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCGCAGCTCGCGCCCGCGGT	0.706000													3	23					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120192691	120192691	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr4:120192691A>G	ENST00000450251.1	+	12	2220	c.1676A>G	c.(1675-1677)gAc>gGc	p.D559G	USP53_ENST00000274030.6_Missense_Mutation_p.D559G			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	559					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACTGGATATGACACAGACAGC	0.423000													11	73					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046935	42046935	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:42046935C>T	ENST00000372584.1	-	3	4548	c.3534G>A	c.(3532-3534)atG>atA	p.M1178I	HIVEP3_ENST00000429157.2_Missense_Mutation_p.M1178I|HIVEP3_ENST00000372583.1_Missense_Mutation_p.M1178I|HIVEP3_ENST00000247584.5_Missense_Mutation_p.M1178I	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1178					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAAGTGGGGGCATGGAGTATG	0.577000													7	118					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87656896	87656896	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr8:87656896A>G	ENST00000320005.5	-	9	1056	c.1009T>C	c.(1009-1011)Ttt>Ctt	p.F337L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	337					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGATGATTAAATTCAAAAAAT	0.274000													6	13					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86302160	86302160	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:86302160G>A	ENST00000263857.6	-	12	1982	c.1604C>T	c.(1603-1605)aCa>aTa	p.T535I	POLR1A_ENST00000409681.1_Missense_Mutation_p.T535I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	535					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACAATTTTTGTCCCCTGGGG	0.632000													3	12					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956065	96956065	+	Splice_Site	SNP	T	T	C			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:96956065T>C	ENST00000323853.5	-	20	2818	c.2741A>G	c.(2740-2742)aAg>aGg	p.K914R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	914	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTCCCCTACCTTGGCATTCTG	0.532000													18	128					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													4	109					0	0	1	0	0
HAUS1	115106	broad.mit.edu	37	18	43700024	43700024	+	Silent	SNP	A	A	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr18:43700024A>G	ENST00000282058.6	+	4	554	c.474A>G	c.(472-474)caA>caG	p.Q158Q	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	158					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AATGTCTACAAGAGTAAGTAA	0.294000													7	16					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44496823	44496823	+	Silent	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:44496823C>T	ENST00000425708.2	-	2	560	c.219G>A	c.(217-219)ctG>ctA	p.L73L	ZNF445_ENST00000396077.2_Silent_p.L73L			P59923	ZN445_HUMAN	zinc finger protein 445	73	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGAGCCGGCTCAGAGTTTCTA	0.607000													6	115					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833168	43833168	+	Silent	SNP	G	G	A	rs141710800		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr21:43833168G>A	ENST00000319294.6	+	4	421	c.390G>A	c.(388-390)gcG>gcA	p.A130A	UBASH3A_ENST00000398367.1_Silent_p.A130A|UBASH3A_ENST00000291535.6_Silent_p.A130A	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	130						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGTACGAGGCGCTGAAGAGAG	0.547000													21	177					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58111408	58111408	+	Silent	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:58111408C>T	ENST00000357272.4	+	23	4164	c.3999C>T	c.(3997-3999)gcC>gcT	p.A1333A	FLNB_ENST00000419752.2_Silent_p.A1164A|FLNB_ENST00000429972.2_Silent_p.A1333A|FLNB_ENST00000490882.1_Silent_p.A1333A|FLNB_ENST00000358537.3_Silent_p.A1333A|FLNB_ENST00000295956.4_Silent_p.A1333A|FLNB_ENST00000348383.5_Silent_p.A1333A|FLNB_ENST00000493452.1_Silent_p.A1164A			O75369	FLNB_HUMAN	filamin B, beta	1333	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGTGCAAGCCCAAGGACCTG	0.522000													6	109					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160075851	160075851	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:160075851G>A	ENST00000263635.6	+	21	3718	c.3481G>A	c.(3481-3483)Gtg>Atg	p.V1161M	TANC1_ENST00000454300.1_Missense_Mutation_p.V1055M	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1161						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTTGAGCACCGTGGAATTCCT	0.522000													4	114					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791802	42791802	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr19:42791802G>A	ENST00000572681.2	+	6	3483	c.3415G>A	c.(3415-3417)Gtc>Atc	p.V1139I	CIC_ENST00000575354.2_Missense_Mutation_p.V230I|CIC_ENST00000160740.3_Missense_Mutation_p.V230I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	230	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V230I(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAACCGGACCGTCAGCAAGAT	0.617000			"""Mis, F, S"""		oligodendroglioma								10	64					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430553	78430553	+	Splice_Site	SNP	A	A	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:78430553A>G	ENST00000370767.1	-	9	823		c.e9+1		FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTTAAGTTTACTTGAACTTT	0.368000			"""F, N"""		oligodendroglioma								5	46					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								16	39					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30342876	30342876	+	Silent	SNP	A	A	C			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr21:30342876A>C	ENST00000389194.2	-	8	1316	c.1311T>G	c.(1309-1311)gcT>gcG	p.A437A	LTN1_ENST00000389195.2_Silent_p.A437A|LTN1_ENST00000361371.5_Silent_p.A391A	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	391							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTACTTACCCAGCAACTAGAG	0.308000													3	31					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9630017	9630017	+	Missense_Mutation	SNP	G	G	A	rs2234231	byFrequency	TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:9630017G>A	ENST00000382492.2	-	1	446	c.128C>T	c.(127-129)cCg>cTg	p.P43L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	43					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGATCCAGCGGAGCCATTTT	0.378000													20	67					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707432	50707432	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr16:50707432G>A	ENST00000330943.4	-	4	1007	c.836C>T	c.(835-837)gCg>gTg	p.A279V	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	279					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTGCCCAGCGCGTAGGCCAG	0.697000													5	78					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400788	43400788	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr6:43400788G>A	ENST00000244533.3	+	1	1300	c.941G>A	c.(940-942)gGg>gAg	p.G314E	ABCC10_ENST00000372530.4_Missense_Mutation_p.G357E|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	357	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGGCACGGGGGGCTGTGCTG	0.587000													4	94					0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71175890	71175890	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr10:71175890T>A	ENST00000373306.4	-	1	733	c.190A>T	c.(190-192)Atg>Ttg	p.M64L		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	64					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	ACTGTGCGCATCCTCCGATGG	0.587000													4	56					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	141					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35086923	35086923	+	Silent	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr15:35086923G>A	ENST00000290378.4	-	2	742	c.87C>T	c.(85-87)ccC>ccT	p.P29P	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	29					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGACAGCGCGGGGCGCGTCAT	0.682000													4	83					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18183208	18183208	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chrX:18183208G>A	ENST00000380033.4	-	14	2453	c.2321C>T	c.(2320-2322)tCg>tTg	p.S774L		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	774								p.S774L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGCTGGAAGCGACTGAGACCT	0.557000													14	87					0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13248162	13248162	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr19:13248162C>G	ENST00000292431.4	+	4	1324	c.1198C>G	c.(1198-1200)Cgg>Ggg	p.R400G		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	400	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GGTCCTACTGCGGCGGCTCCT	0.647000													8	85					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28228314	28228314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr6:28228314C>T	ENST00000343684.3	+	1	1217	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	389										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGCCAGTTTCCGAGAGATGGT	0.378000													3	33					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058203	114058203	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:114058203C>G	ENST00000462705.1	-	12	2477	c.1656G>C	c.(1654-1656)atG>atC	p.M552I	ZBTB20_ENST00000471418.1_Missense_Mutation_p.M552I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.M552I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.M552I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.M552I|ZBTB20_ENST00000474710.1_Missense_Mutation_p.M625I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.M552I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGTGTCACCATGTGCTTGA	0.537000													27	78					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209169012	209169012	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:209169012A>G	ENST00000264380.4	+	11	1596	c.1438A>G	c.(1438-1440)Ata>Gta	p.I480V	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.I383V|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.I480V|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.I394V	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	480					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CACAGAACAGATAGCTGAAGA	0.403000													18	52					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74988686	74988686	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr14:74988686C>T	ENST00000261978.4	-	17	3102	c.2716G>A	c.(2716-2718)Gtg>Atg	p.V906M	LTBP2_ENST00000556690.1_Missense_Mutation_p.V906M	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	906	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGGACCCCACGCGGTTGATG	0.632000													4	45					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95481529	95481529	+	Silent	SNP	C	C	T			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr9:95481529C>T	ENST00000356884.6	-	5	1465	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BICD2_ENST00000375512.3_Silent_p.Q466Q	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	466					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCTCGGCGTGCTGGGCCTCAC	0.667000													20	36					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140871058	140871058	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:140871058G>A	ENST00000252087.1	+	1	2251	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		751					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCTGCAGGTGAGCTCGGA	0.652000													7	60					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108938934	108938934	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr12:108938934G>A	ENST00000228284.3	-	4	944	c.710C>T	c.(709-711)gCg>gTg	p.A237V	SART3_ENST00000431469.2_Missense_Mutation_p.A237V	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	237					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCCACAATCGCACTTTCAAA	0.493000									Porokeratosis				53	195					0	0	1	0	0
FDPS	2224	broad.mit.edu	37	1	155279639	155279639	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:155279639delG	ENST00000356657.6	+	2	221	c.59delG	c.(58-60)tggfs	p.W20fs	FDPS_ENST00000447866.1_Intron|FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000368356.4_Frame_Shift_Del_p.W20fs	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	20					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GCCCCCTACTGGGCACCCCGG	0.687													2	4	---	---	---	---					
UBA6-AS1	550112	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	AT	rs59536241	by1000genomes	TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr4:68632418_68632419insAT	ENST00000500538.2	+	0	1905				UBA6-AS1_ENST00000502758.1_RNA																							cacacacacacaTATATATAct	0.431													4	9	---	---	---	---					
GPANK1	7918	broad.mit.edu	37	6	31630099	31630102	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr6:31630099_31630102delCCTC	ENST00000375906.1	-	4	1696_1699	c.1012_1015delGAGG	c.(1012-1017)gaggagfs	p.EE338fs	GPANK1_ENST00000375895.2_Frame_Shift_Del_p.EE338fs|GPANK1_ENST00000375900.4_Frame_Shift_Del_p.EE338fs|GPANK1_ENST00000375896.4_Frame_Shift_Del_p.EE338fs|GPANK1_ENST00000375893.2_Frame_Shift_Del_p.EE338fs	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	338						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CTGTCTTTCTCCTCCCTCCTTCTC	0.564													11	95	---	---	---	---					
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cagccg>cag	p.P751del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	751	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749													4	9	---	---	---	---					
MIOS	54468	broad.mit.edu	37	7	7625428	7625428	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr7:7625428delG	ENST00000340080.4	+	7	2231	c.1810delG	c.(1810-1812)ggafs	p.G604fs	MIOS_ENST00000405785.1_Frame_Shift_Del_p.G604fs	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	604										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCTTACGATGGAGTTTTGGT	0.328													11	80	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92763622	92763638	+	Frame_Shift_Del	DEL	TTTCCACTGAAGAGAGT	TTTCCACTGAAGAGAGT	-	rs137896260		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr7:92763622_92763638delTTTCCACTGAAGAGAGT	ENST00000318238.4	-	5	2863_2879	c.1647_1663delACTCTCTTCAGTGGAAA	c.(1645-1665)ttactctcttcagtggaaagcfs	p.LSSVES550fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.LSSVES550fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.LSSVES550fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	550								p.V553fs*10(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCCTGGGCTTTCCACTGAAGAGAGTAATAGAAACA	0.350													9	17	---	---	---	---					
C16orf11	146325	broad.mit.edu	37	16	614024	614024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr16:614024delC	ENST00000409413.3	+	2	1009	c.730delC	c.(730-732)cccfs	p.P245fs		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	245	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCCTGCTGCCCCCGGCCAC	0.731													3	6	---	---	---	---					
RNF225	646862	broad.mit.edu	37	19	58907569	58907571	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr19:58907569_58907571delAGG	ENST00000601382.1	+	1	113_115	c.113_115delAGG	c.(112-117)caggag>cag	p.E45del		NM_001195135.1	NP_001182064.1																					GGGGAAGACCaggaggaggagga	0.724													2	4	---	---	---	---					
SLC24A3	57419	broad.mit.edu	37	20	19193520	19193522	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:19193520_19193522delCGC	ENST00000328041.6	+	1	231_233	c.34_36delCGC	c.(34-36)cgcdel	p.R20del	RP11-97N19.2_ENST00000446849.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	20						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCGCGCGcgtcgccgccgccgcc	0.813													2	4	---	---	---	---					
