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
MPL	4352	broad.mit.edu	37	1	43804269	43804269	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:43804269G>A	uc001ciw.3	+	2	314	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	MPL_uc001civ.3_Missense_Mutation_p.R90Q|MPL_uc009vwr.3_Missense_Mutation_p.R83Q	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	90					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGGAACCCGATACGTGTGC	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia					
RUSC1-AS1	284618	broad.mit.edu	37	1	155291139	155291139	+	Silent	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:155291139G>A	uc001fki.3	-	1	418	c.141C>T	c.(139-141)taC>taT	p.Y47Y	RUSC1-AS1_uc001fkh.1_Non-coding_Transcript|RUSC1_uc001fkk.2_Intron|RUSC1_uc001fkj.2_Intron|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	Homo sapiens RUSC1 antisense RNA 1 (non-protein coding) (RUSC1-AS1), mRNA.	47																	TCCTCTGGGAGTAAGGGGTAG	0.647												
SPTA1	6708	broad.mit.edu	37	1	158617395	158617395	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:158617395C>T	uc001fst.1	-	26	4029	c.3830G>A	c.(3829-3831)cGt>cAt	p.R1277H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1277					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277L(4)|p.R1277H(2)|p.R1277C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557												
CEP350	9857	broad.mit.edu	37	1	179989186	179989186	+	Silent	SNP	C	C	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:179989186C>G	uc001gnt.3	+	11	2660	c.2277C>G	c.(2275-2277)ctC>ctG	p.L759L	CEP350_uc009wxl.2_Silent_p.L758L|CEP350_uc001gnu.3_Silent_p.L593L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	759						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGTTTACTCTCCCATCTCT	0.403												
OR5F1	338674	broad.mit.edu	37	11	55761884	55761884	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr11:55761884T>G	uc010riv.2	-	0	218	c.218A>C	c.(217-219)aAc>aCc	p.N73T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGTAGTTGAGTTACAAACGTC	0.443												
RFX4	5992	broad.mit.edu	37	12	107048021	107048021	+	Nonsense_Mutation	SNP	T	T	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr12:107048021T>G	uc001tlt.3	+	3	374	c.234T>G	c.(232-234)taT>taG	p.Y78*	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Nonsense_Mutation_p.Y69*|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Nonsense_Mutation_p.Y78*	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	69					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGGAGAACTATGAGATTGCAG	0.488												
NEIL1	79661	broad.mit.edu	37	15	75641495	75641495	+	Silent	SNP	C	C	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr15:75641495C>T	uc002bae.3	+	1	660	c.507C>T	c.(505-507)ggC>ggT	p.G169G	NEIL1_uc002bad.3_Silent_p.G83G	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	83					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCATGTCCGGCTCTTTTCAGC	0.687								Base excision repair (BER), DNA glycosylases				
CAMKK1	84254	broad.mit.edu	37	17	3779538	3779538	+	Silent	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:3779538G>A	uc002fwv.3	-	10	1237	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	CAMKK1_uc002fwt.3_Silent_p.S325S|CAMKK1_uc002fwu.3_Silent_p.S325S	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	325	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AGCTCTGGCCGGAATCAGAAA	0.622												
NF1	4763	broad.mit.edu	37	17	29560133	29560133	+	Frame_Shift_Del	DEL	C	C	-			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:29560133delC	uc002hgg.3	+	26	3993	c.3610delC	c.(3610-3612)cggfs	p.R1204fs	NF1_uc002hgh.3_Frame_Shift_Del_p.R1204fs|NF1_uc010csn.2_Frame_Shift_Del_p.R1064fs|NF1_uc002hgi.1_Frame_Shift_Del_p.R237fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1204			R -> G (in NF1).|R -> W (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.R1204W(2)|p.G1190fs*1(1)|p.D1203H(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTGGCTGATCGGTTTGAGAG	0.453			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
NF1	4763	broad.mit.edu	37	17	29661945	29661945	+	Nonsense_Mutation	SNP	C	C	T	rs137854552		TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:29661945C>T	uc002hgg.3	+	39	6285	c.5902C>T	c.(5902-5904)Cga>Tga	p.R1968*	NF1_uc002hgh.3_Nonsense_Mutation_p.R1947*|NF1_uc010cso.3_Nonsense_Mutation_p.R156*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1968					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R1968*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGATGCCAAACGACAAAGAGT	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:39274291T>C	uc002hvz.3	-	0	316	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(8)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662												
ETV4	2118	broad.mit.edu	37	17	41610118	41610118	+	Silent	SNP	A	A	C			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:41610118A>C	uc002idw.3	-	7	863	c.735T>G	c.(733-735)ggT>ggG	p.G245G	ETV4_uc002idv.3_5'Flank|ETV4_uc010wih.2_Silent_p.G191G|ETV4_uc010czh.3_Silent_p.G244G|ETV4_uc010wii.2_Silent_p.G206G|ETV4_uc002idx.3_Silent_p.G245G|ETV4_uc010wij.2_Silent_p.G206G	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	245					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CATTGACCCCACCCTGGTCCA	0.617			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""							
HOXB8	3218	broad.mit.edu	37	17	46692020	46692020	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:46692020C>G	uc002inw.3	-	0	282	c.47G>C	c.(46-48)gGg>gCg	p.G16A		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CAGGGACTCCCCGGTTTTGTA	0.587												
MUC16	94025	broad.mit.edu	37	19	9062384	9062384	+	Silent	SNP	G	G	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr19:9062384G>T	uc002mkp.3	-	2	25266	c.25062C>A	c.(25060-25062)acC>acA	p.T8354T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8356	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTCACGTTGGTCACTGCTG	0.488												
ZNF653	115950	broad.mit.edu	37	19	11594572	11594572	+	Silent	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr19:11594572G>A	uc002mrz.2	-	8	1910	c.1773C>T	c.(1771-1773)tgC>tgT	p.C591C	ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGCGCTTCCCGCAGCGATCGC	0.612												
DDX11L2	84771	broad.mit.edu	37	2	114357720	114357720	+	Silent	SNP	A	A	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr2:114357720A>G	uc010yxx.1	-	2	546	c.219T>C	c.(217-219)ccT>ccC	p.P73P						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		CAGCTTGTCCAGGACAGGGTG	0.567												
FAM83D	81610	broad.mit.edu	37	20	37580810	37580811	+	Frame_Shift_Ins	INS	-	-	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr20:37580810_37580811insT	uc002xjg.3	+	3	1536_1537	c.1495_1496insT	c.(1495-1497)gtafs	p.V499fs		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	469					cell division|mitosis	cytoplasm|spindle pole		p.V499I(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AAAAATGTCTGTATCGAGATCT	0.485												
PCK1	5105	broad.mit.edu	37	20	56140691	56140691	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr20:56140691A>C	uc002xyn.4	+	9	1863	c.1700A>C	c.(1699-1701)aAa>aCa	p.K567T	PCK1_uc010zzm.2_Missense_Mutation_p.K250T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	567					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGAACCTGAAAGGCCTGGGG	0.532												
HUNK	30811	broad.mit.edu	37	21	33331245	33331245	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr21:33331245C>A	uc002yph.3	+	4	1197	c.837C>A	c.(835-837)gaC>gaA	p.D279E		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	279	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGATGGTAGACAAAGAAATGA	0.537												
CAMKV	79012	broad.mit.edu	37	3	49896857	49896857	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:49896857G>T	uc003cxt.1	-	10	1593	c.1400C>A	c.(1399-1401)cCg>cAg	p.P467Q	TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.P392Q|CAMKV_uc003cxv.1_Missense_Mutation_p.P439Q|CAMKV_uc003cxw.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxx.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxu.2_Missense_Mutation_p.P436Q|CAMKV_uc011bcz.1_Missense_Mutation_p.P399Q|CAMKV_uc011bda.1_Missense_Mutation_p.P393Q	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	467	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTGCTGTCCGGCTGGGCCAT	0.652												
C3orf26	84319	broad.mit.edu	37	3	99891168	99891168	+	Silent	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:99891168G>A	uc003dtl.3	+	7	734	c.588G>A	c.(586-588)gcG>gcA	p.A196A	C3orf26_uc021xbt.1_Silent_p.A178A	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA.	196							ATP binding|ATP-dependent helicase activity|nucleic acid binding			large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2)	14						AGGTCCAGGCGCAGGTAAAGT	0.413												
FXR1	8087	broad.mit.edu	37	3	180651171	180651172	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:180651171_180651172delAT	uc003fkq.3	+	1	341_342	c.101_102delAT	c.(100-102)aatfs	p.N34fs	FXR1_uc003fkp.3_5'UTR|FXR1_uc003fkr.3_Frame_Shift_Del_p.N34fs|FXR1_uc011bqj.2_Intron|FXR1_uc003fks.3_5'UTR|FXR1_uc011bqk.2_Intron|FXR1_uc011bql.2_Frame_Shift_Del_p.N21fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	34					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GTTTTTGAAAATAAGTAAGTTA	0.332												
RICTOR	253260	broad.mit.edu	37	5	38950386	38950386	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:38950386A>C	uc003jlo.2	-	30	3586	c.3564T>G	c.(3562-3564)aaT>aaG	p.N1188K	RICTOR_uc003jlp.2_Missense_Mutation_p.N1188K|RICTOR_uc010ivf.2_Missense_Mutation_p.N903K	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1188					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTACCAAAATTCTTGGTGA	0.358												
SV2C	22987	broad.mit.edu	37	5	75427791	75427791	+	Silent	SNP	C	C	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:75427791C>T	uc003kei.1	+	1	350	c.216C>T	c.(214-216)gaC>gaT	p.D72D		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	72					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D72D(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCAACGATGACGAAGGCTCAA	0.498												
ARRDC3	57561	broad.mit.edu	37	5	90671379	90671379	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:90671379A>C	uc003kjz.2	-	3	802	c.562T>G	c.(562-564)Tca>Gca	p.S188A		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	188					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		ATTGGGCCTGAGGTACAGAAC	0.398												
CDC23	8697	broad.mit.edu	37	5	137524677	137524677	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:137524677A>G	uc003lcl.3	-	15	1815	c.1784T>C	c.(1783-1785)gTc>gCc	p.V595A		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	595					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTATGGCGTGACAGAAGACAA	0.493												
JAKMIP2	9832	broad.mit.edu	37	5	147012259	147012259	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:147012259C>T	uc010jgo.1	-	11	1908	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	JAKMIP2_uc003loq.1_Missense_Mutation_p.R587Q|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R545Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R566Q|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	587						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAGGTTTCGAAACTCCAG	0.388												
COL12A1	1303	broad.mit.edu	37	6	75866132	75866132	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr6:75866132G>A	uc021zbv.1	-	13	3126	c.3091C>T	c.(3091-3093)Cgc>Tgc	p.R1031C	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.R1031C|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1031	Fibronectin type-III 7.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCATGAGGGCGATAGACAACA	0.473												
CASP8AP2	9994	broad.mit.edu	37	6	90578080	90578080	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr6:90578080G>A	uc003pnr.3	+	7	5267	c.5071G>A	c.(5071-5073)Gtc>Atc	p.V1691I	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.V1691I|CASP8AP2_uc011dzz.2_Missense_Mutation_p.V1691I	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1691					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAAAGATCCAGTCACTGAAAC	0.388												
PEX1	5189	broad.mit.edu	37	7	92147239	92147239	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr7:92147239T>C	uc003uly.3	-	4	686	c.590A>G	c.(589-591)aAa>aGa	p.K197R	PEX1_uc011khr.2_5'UTR|PEX1_uc010ley.3_Missense_Mutation_p.K197R|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	197					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATGAAGTTTTTTATATTCAGC	0.388												
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr9:35906348_35906350delCTG	uc003zyr.1	+	0	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.670												
KIF12	113220	broad.mit.edu	37	9	116858751	116858751	+	Silent	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr9:116858751G>A	uc004bif.3	-	4	478	c.240C>T	c.(238-240)agC>agT	p.S80S	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	213	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCTTCGACGGCTGAGAcctg	0.547												
