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
TFEC	22797	broad.mit.edu	37	7	115624410	115624410	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr7:115624410G>A	ENST00000265440.7	-	2	266	c.86C>T	c.(85-87)gCa>gTa	p.A29V	TFEC_ENST00000393485.1_Missense_Mutation_p.A29V|TFEC_ENST00000484212.1_Missense_Mutation_p.A119V|TFEC_ENST00000320239.7_Missense_Mutation_p.A29V	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	29	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.A29V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AGTTGTGTGTGCATGCTGCAC	0.453000													4	147					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20037347	20037347	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr20:20037347G>A	ENST00000245957.5	+	2	126	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	C20orf26_ENST00000451767.2_Missense_Mutation_p.R17Q|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.R17Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	17										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTTCATTGCCGAAGAACAGAA	0.348000													4	151					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2868929	2868929	+	Silent	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr17:2868929C>T	ENST00000254695.8	+	8	678	c.588C>T	c.(586-588)gtC>gtT	p.V196V	RAP1GAP2_ENST00000366401.4_Silent_p.V181V|RAP1GAP2_ENST00000542807.1_Silent_p.V196V|CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000540393.2_Silent_p.V177V	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	196					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ACCTCCGGGTCATCCTTAGGT	0.557000													3	8					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196793620	196793620	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:196793620G>C	ENST00000346964.2	-	21	2341	c.2152C>G	c.(2152-2154)Caa>Gaa	p.Q718E	DLG1_ENST00000357674.4_Missense_Mutation_p.Q685E|DLG1_ENST00000443183.1_Missense_Mutation_p.Q592E|DLG1_ENST00000448528.2_Missense_Mutation_p.Q696E|DLG1_ENST00000419354.1_Missense_Mutation_p.Q696E|DLG1_ENST00000452595.1_Missense_Mutation_p.Q580E|DLG1_ENST00000314062.3_Missense_Mutation_p.Q645E|DLG1_ENST00000422288.1_Missense_Mutation_p.Q645E|DLG1_ENST00000450955.1_Missense_Mutation_p.Q685E|DLG1_ENST00000392382.2_Missense_Mutation_p.Q663E	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	696	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TATTCTTCTTGACCACCTATT	0.299000													24	35					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161503	141161503	+	Silent	SNP	C	C	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:141161503C>A	ENST00000514251.1	+	4	552	c.273C>A	c.(271-273)atC>atA	p.I91I	ZBTB38_ENST00000321464.5_Silent_p.I92I|ZBTB38_ENST00000441582.2_Silent_p.I91I			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	91	BTB.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTAATTATATCTACAGTTCCA	0.413000													40	42					5.71845e-15	6.16991e-15	1	1	0
HAVCR1	26762	broad.mit.edu	37	5	156456729	156456729	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr5:156456729G>A	ENST00000425854.1	-	7	1608	c.1076C>T	c.(1075-1077)tCt>tTt	p.S359F	HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000523175.1_3'UTR|HAVCR1_ENST00000339252.3_3'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.S359F			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACTCTCAAAGAGCACCACTG	0.413000													14	17					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38058110	38058110	+	Silent	SNP	G	G	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:38058110G>T	ENST00000463876.1	-	3	716	c.363C>A	c.(361-363)gtC>gtA	p.V121V	PLCD1_ENST00000334661.4_Silent_p.V100V|PLCD1_ENST00000479619.1_5'UTR	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	100	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGTCCTTGAAGACAATGGAGA	0.602000													10	7					2.17888e-05	2.20578e-05	1	1	0
CEBPZ	10153	broad.mit.edu	37	2	37458644	37458644	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr2:37458644C>G	ENST00000234170.5	-	1	212	c.67G>C	c.(67-69)Gaa>Caa	p.E23Q		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	23					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCCGGATCTTCTACTGCCTCC	0.597000													26	41					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110587461	110587461	+	Splice_Site	SNP	G	G	C			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr1:110587461G>C	ENST00000369795.3	+	11	1308		c.e11-1		STRIP1_ENST00000369796.1_Splice_Site	NM_033088.3	NP_149079.2			striatin interacting protein 1																		TGATGTGGCAGAGAGAAAGAC	0.388000													32	57					0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47673086	47673086	+	Silent	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr19:47673086C>T	ENST00000413379.3	+	6	741	c.639C>T	c.(637-639)ttC>ttT	p.F213F	SAE1_ENST00000270225.7_Silent_p.F213F|SAE1_ENST00000598840.1_Silent_p.F132F|SAE1_ENST00000392776.3_Silent_p.F213F|SAE1_ENST00000540850.1_Silent_p.F39F	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	213					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		AGGTGGTCTTCTGCCCTGTTA	0.488000													66	56					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6677038	6677038	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr12:6677038C>T	ENST00000541778.1	-	2	535	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	NOP2_ENST00000322166.5_Missense_Mutation_p.R16Q|NOP2_ENST00000540228.1_Missense_Mutation_p.R16Q|NOP2_ENST00000545200.1_Missense_Mutation_p.R16Q|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000399466.2_Missense_Mutation_p.R16Q|NOP2_ENST00000537442.1_Missense_Mutation_p.R16Q|NOP2_ENST00000382421.3_Missense_Mutation_p.R16Q|NOP2_ENST00000545915.1_Missense_Mutation_p.R16Q			P46087	NOP2_HUMAN	NOP2 nucleolar protein	16					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CCGGGCCTTTCGGCCTGGCCC	0.592000													26	25					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36320808	36320808	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr7:36320808G>A	ENST00000242108.4	+	4	1733	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	EEPD1_ENST00000534978.1_Missense_Mutation_p.E339K	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	339					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGTTGTTGCTGAGAAGCCCTC	0.532000													10	16					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73045782	73045782	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr5:73045782G>A	ENST00000545377.1	+	3	330	c.154G>A	c.(154-156)Gat>Aat	p.D52N	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.D52N|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.D52N|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.D52N|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.D52N|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.D52N	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GCGCATCGAGGATAACGTTCT	0.473000													15	43					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32431748	32431748	+	Silent	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr9:32431748G>A	ENST00000309951.6	+	15	1896	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	ACO1_ENST00000379923.1_Silent_p.L586L|ACO1_ENST00000541043.1_Silent_p.L487L	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGGTATTTCTGAAAGATATCT	0.403000													39	58					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53438987	53438987	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chrX:53438987C>G	ENST00000322213.4	-	6	1198	c.1071G>C	c.(1069-1071)gaG>gaC	p.E357D	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	357					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GACTCTGACTCTCTTCTTCCA	0.527000													22	1					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12856195	12856195	+	Splice_Site	SNP	C	C	G			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr10:12856195C>G	ENST00000378847.3	+	7	980	c.643C>G	c.(643-645)Ctc>Gtc	p.L215V	CAMK1D_ENST00000378845.1_Splice_Site_p.L215V	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	215	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GTCTCCTAGGCTCTGCGGCTA	0.453000													25	30					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53439089	53439089	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chrX:53439089C>G	ENST00000322213.4	-	6	1096	c.969G>C	c.(967-969)caG>caC	p.Q323H	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	323					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TGTAGTGCTTCTGAGCATTCT	0.493000													24	2					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118569088	118569088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr5:118569088C>T	ENST00000311085.8	+	38	8409	c.8329C>T	c.(8329-8331)Caa>Taa	p.Q2777*	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Nonsense_Mutation_p.Q2798*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2777										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGGCCATTCTCAACAAATAAC	0.343000													43	38					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53438752	53438752	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chrX:53438752C>T	ENST00000322213.4	-	7	1340	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	SMC1A_ENST00000375340.6_Missense_Mutation_p.D171N	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	405					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TCCAGACGGTCCTGGTCAGCT	0.473000													79	0					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100892140	100892140	+	Silent	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr9:100892140G>A	ENST00000343933.5	-	8	1160	c.903C>T	c.(901-903)agC>agT	p.S301S	CORO2A_ENST00000375077.4_Silent_p.S301S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	301					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GCTTGTCGGCGCTCACCTCGT	0.552000													34	49					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196792614	196792614	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:196792614G>A	ENST00000346964.2	-	22	2453	c.2264C>T	c.(2263-2265)tCa>tTa	p.S755L	DLG1_ENST00000357674.4_Missense_Mutation_p.S722L|DLG1_ENST00000443183.1_Missense_Mutation_p.S629L|DLG1_ENST00000448528.2_Missense_Mutation_p.S733L|DLG1_ENST00000419354.1_Missense_Mutation_p.S733L|DLG1_ENST00000452595.1_Missense_Mutation_p.S617L|DLG1_ENST00000314062.3_Missense_Mutation_p.S682L|DLG1_ENST00000422288.1_Missense_Mutation_p.S682L|DLG1_ENST00000450955.1_Missense_Mutation_p.S722L|DLG1_ENST00000392382.2_Missense_Mutation_p.S700L	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	733	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		AGGAAATTCTGAGATCAAGTC	0.333000													26	30					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53438813	53438813	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chrX:53438813C>G	ENST00000322213.4	-	7	1279	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	SMC1A_ENST00000375340.6_Missense_Mutation_p.K150N	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	384					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TAGCTGCTCTCTTGCTGGCTT	0.522000													52	4					0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16189209	16189209	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr12:16189209C>A	ENST00000428559.2	+	8	1006	c.794C>A	c.(793-795)tCc>tAc	p.S265Y	DERA_ENST00000532964.1_Missense_Mutation_p.S222Y|DERA_ENST00000532573.1_3'UTR|DERA_ENST00000526530.1_Missense_Mutation_p.S177Y	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	265					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GCAAAGGATTCCCTTGCTTGG	0.443000													12	14					6.40141e-05	6.40141e-05	1	1	0
ISL2	64843	broad.mit.edu	37	15	76634070	76634070	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr15:76634070C>A	ENST00000290759.4	+	6	1134	c.974C>A	c.(973-975)tCc>tAc	p.S325Y	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	325						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GTCTCCTTCTCCGAGTCCGGC	0.677000													26	24					3.08376e-08	3.20087e-08	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73848439	73848439	+	Silent	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr8:73848439G>A	ENST00000523207.1	+	3	1437	c.849G>A	c.(847-849)ctG>ctA	p.L283L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	283					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCATTTTTCTGACGGAGTCCA	0.493000													37	43					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36572381	36572381	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr19:36572381C>T	ENST00000401500.2	+	10	1315	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	WDR62_ENST00000388999.3_Missense_Mutation_p.S427F|WDR62_ENST00000270301.7_Missense_Mutation_p.S427F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	427					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCATCAGGATCCTTTCTGACT	0.468000													62	74					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196541437	196541437	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:196541437G>C	ENST00000327134.3	+	11	1373	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	351	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGTATGCAGAGAGGTAGGTTT	0.428000													69	59					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983190	140983190	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chrX:140983190C>G	ENST00000298296.1	+	5	1045	c.1045C>G	c.(1045-1047)Caa>Gaa	p.Q349E	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101E	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	349	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAATCCTCAAGGTAAGGG	0.577000													56	2					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72311383	72311383	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr15:72311383C>A	ENST00000356056.5	-	6	1624	c.1152G>T	c.(1150-1152)gaG>gaT	p.E384D	MYO9A_ENST00000563542.1_Intron|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Missense_Mutation_p.E384D|MYO9A_ENST00000444904.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.E384D|RP11-390D11.1_ENST00000568391.1_RNA	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	384	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACTGACCGGCTCAGAGTCAT	0.393000													26	62					1.17739e-12	1.25385e-12	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													6	117					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142423357	142423357	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:142423357G>A	ENST00000337777.3	+	14	1771	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	PLS1_ENST00000497002.1_Missense_Mutation_p.E520K|PLS1_ENST00000457734.2_Missense_Mutation_p.E520K	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	520	Actin-binding 2.|CH 4.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AGTAAATGATGAAATTATAAT	0.318000													23	29					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713407	142713407	+	RNA	SNP	C	C	T	rs142431664	by1000genomes	TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr1:142713407C>T	ENST00000610091.1	-	0	2251																											CAGTAAGAAACTCATTCTTAT	0.318000													4	40					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796727	62796727	+	RNA	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr17:62796727G>A	ENST00000582986.1	-	0	1193					NR_024386.1																						TCCTCCTGCTGAGGCCGGACC	0.667000													28	18					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3629245	3629245	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr17:3629245G>C	ENST00000325418.4	+	1	2035	c.2016G>C	c.(2014-2016)aaG>aaC	p.K672N	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	672	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										TCAATGGGAAGAGCAGCACTA	0.517000													36	60					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52022983	52022983	+	Silent	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:52022983C>T	ENST00000458031.2	+	17	1620	c.1389C>T	c.(1387-1389)caC>caT	p.H463H	ACY1_ENST00000404366.2_Silent_p.H373H|ACY1_ENST00000476854.1_Silent_p.H308H|ABHD14A-ACY1_ENST00000463937.1_Silent_p.H474H|ACY1_ENST00000494103.1_Silent_p.H301H|ACY1_ENST00000476351.1_Silent_p.H338H			Q03154	ACY1_HUMAN	aminoacylase 1	373					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	TGCTGCTGCACGACCACGATG	0.617000													4	97					0	0	1	0	0
GLTP	51228	broad.mit.edu	37	12	110290387	110290387	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr12:110290387C>A	ENST00000318348.4	-	5	716	c.603G>T	c.(601-603)atG>atT	p.M201I	GLTP_ENST00000544393.1_Missense_Mutation_p.M182I	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	201						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GCTCAGCGTTCATCTGGGTGT	0.532000											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	114	118					5.09347e-41	5.64412e-41	1	1	0
ABI2	10152	broad.mit.edu	37	2	204231719	204231719	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr2:204231719G>A	ENST00000261016.6	+	2	357	c.26G>A	c.(25-27)aGg>aAg	p.R9K	ABI2_ENST00000261017.5_Silent_p.Q79Q|ABI2_ENST00000430418.1_Silent_p.Q79Q|ABI2_ENST00000424558.1_Silent_p.Q79Q|ABI2_ENST00000295851.5_Silent_p.Q79Q|ABI2_ENST00000422511.2_Silent_p.Q79Q			Q9NYB9	ABI2_HUMAN	abl-interactor 2	0					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TGGATATCCAGGCATCCCAGC	0.423000													28	27					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164572	141164572	+	Silent	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:141164572G>A	ENST00000514251.1	+	4	3621	c.3342G>A	c.(3340-3342)caG>caA	p.Q1114Q	ZBTB38_ENST00000321464.5_Silent_p.Q1115Q|ZBTB38_ENST00000441582.2_Silent_p.Q1114Q			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1114					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATCACGAGCAGAGGCATATTC	0.448000													59	67					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234442316	234442316	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr2:234442316T>G	ENST00000251722.6	-	11	1394	c.1277A>C	c.(1276-1278)cAg>cCg	p.Q426P	USP40_ENST00000427112.2_Missense_Mutation_p.Q426P|USP40_ENST00000450966.1_Missense_Mutation_p.Q438P			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	426					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GAAAATTTGCTGGTCATTCCT	0.408000													4	46					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815753	56815753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr12:56815753G>A	ENST00000229201.4	-	21	2723	c.2569C>T	c.(2569-2571)Cga>Tga	p.R857*	TIMELESS_ENST00000553532.1_Nonsense_Mutation_p.R858*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.R355*	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	858					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTGCGTGTTCGAGGAACAGTA	0.547000													43	50					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr11:533875G>T	ENST00000417302.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			27	45					6.38683e-12	6.71436e-12	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154115947	154115947	+	Silent	SNP	C	C	G			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr1:154115947C>G	ENST00000368559.3	-	3	518	c.447G>C	c.(445-447)ctG>ctC	p.L149L	NUP210L_ENST00000271854.3_Silent_p.L149L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	149						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCTCACCATCAGTTCCAGTG	0.393000													45	62					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108279531	108279531	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:108279531C>T	ENST00000295746.8	-	14	1868	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E439K	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	598						cytoplasm|integral to membrane	protein binding	p.E598K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTAATTCTTCAATATTCAAT	0.348000													84	123					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91695856	91695856	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr7:91695856G>A	ENST00000359028.2	+	27	6587	c.6362G>A	c.(6361-6363)aGa>aAa	p.R2121K	AKAP9_ENST00000358100.2_Missense_Mutation_p.R2121K|AKAP9_ENST00000356239.3_Missense_Mutation_p.R2109K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2121	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATCAAACTAGAGAGGTAAGA	0.348000			T	BRAF	papillary thyroid								16	32					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139563740	139563740	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr6:139563740C>T	ENST00000358430.3	-	10	2210	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	660						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GGCAGCTCCTCTGCTGCTGCT	0.652000													49	43					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37518263	37518263	+	Silent	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr20:37518263C>T	ENST00000299824.1	+	3	465	c.276C>T	c.(274-276)gtC>gtT	p.V92V	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Silent_p.V92V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	92					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGAATAAGGTCAGCCCTGATT	0.597000													66	91					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10904473	10904473	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr19:10904473C>T	ENST00000314646.5	+	8	1234	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	DNM2_ENST00000389253.4_Missense_Mutation_p.S357F|DNM2_ENST00000585892.1_Missense_Mutation_p.S357F|DNM2_ENST00000359692.6_Missense_Mutation_p.S357F|DNM2_ENST00000408974.4_Missense_Mutation_p.S357F|DNM2_ENST00000355667.6_Missense_Mutation_p.S357F			P50570	DYN2_HUMAN	dynamin 2	357					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTGGAGCTCTCCGGGGGCGCC	0.587000			"""F, N, Splice, Mis, O"""		ETP ALL								10	145					0	0	1	0	0
PSMA2	5683	broad.mit.edu	37	7	42961464	42961464	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr7:42961464C>G	ENST00000538645.1	-	5	461	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	PSMA2_ENST00000442788.1_Missense_Mutation_p.E175Q|PSMA2_ENST00000223321.4_Missense_Mutation_p.E175Q|PSMA2_ENST00000445517.1_Missense_Mutation_p.E105Q			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	175					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						TACCTTTTCTCAAGGAAAGTC	0.358000													35	42					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201497	140201497	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr5:140201497G>A	ENST00000529859.1	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R46H|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R46H	NM_018908.2	NP_061731.1												p.R46H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTTGGCCGCATCGCGCAG	0.657000													4	114					0	0	1	0	0
PIH1D1	55011	broad.mit.edu	37	19	49952744	49952744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr19:49952744C>A	ENST00000262265.5	-	3	560	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.E109*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	109					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCATCCAGTTCTGCATGAGGC	0.622000													28	25					2.24059e-21	2.44972e-21	1	1	0
ZBTB38	253461	broad.mit.edu	37	3	141164050	141164050	+	Silent	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:141164050G>A	ENST00000514251.1	+	4	3099	c.2820G>A	c.(2818-2820)agG>agA	p.R940R	ZBTB38_ENST00000321464.5_Silent_p.R941R|ZBTB38_ENST00000441582.2_Silent_p.R940R			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	940					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TCAACTGGAGGAAGGAGCACG	0.488000													23	24					0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296470	153296470	+	Missense_Mutation	SNP	C	C	T	rs62931162		TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chrX:153296470C>T	ENST00000303391.6	-	4	1058	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	MECP2_ENST00000453960.2_Missense_Mutation_p.R282Q|MECP2_ENST00000407218.1_3'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	270					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCGGCTTTCGGCCCCGTTT	0.622000													53	1					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72699449	72699449	+	Silent	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr15:72699449C>T	ENST00000341689.3	+	4	564	c.510C>T	c.(508-510)ctC>ctT	p.L170L	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	170						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCCTCTGCCTCAACCTGTTTG	0.507000													44	38					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834501	168834501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:168834501G>A	ENST00000464456.1	-	7	1795	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	MECOM_ENST00000460814.1_Nonsense_Mutation_p.Q199*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.Q199*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.Q200*|MECOM_ENST00000264674.3_Nonsense_Mutation_p.Q264*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.Q200*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.Q387*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.Q199*	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTGAAAACTGAGTATAGGAT	0.403000													57	49					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110922263	110922263	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr2:110922263G>A	ENST00000316534.4	-	8	846	c.773C>T	c.(772-774)gCg>gTg	p.A258V	NPHP1_ENST00000445609.2_Splice_Site|NPHP1_ENST00000355301.4_Splice_Site|NPHP1_ENST00000393272.3_Missense_Mutation_p.A258V|NPHP1_ENST00000417665.1_Splice_Site			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	258					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GAAGATGCCCGCCTCTGAAAT	0.443000													4	89					0	0	1	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124773	26124773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr6:26124773C>T	ENST00000602637.1	+	1	343	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	HIST1H2AC_ENST00000377791.2_Nonsense_Mutation_p.Q105*			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	105					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GACCATTGCTCAGGGCGGCGT	0.577000													41	43					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8014679	8014679	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr17:8014679C>G	ENST00000380149.1	-	7	1453	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	ALOXE3_ENST00000448843.2_Missense_Mutation_p.E319Q|ALOXE3_ENST00000318227.3_Missense_Mutation_p.E451Q			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	319	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TTACCCACCTCTAGCTCTGTC	0.577000													19	25					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73045770	73045770	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr5:73045770G>A	ENST00000545377.1	+	3	318	c.142G>A	c.(142-144)Gag>Aag	p.E48K	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E48K|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E48K|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E48K|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E48K|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E48K	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CATGATTGCAGAGCGCATCGA	0.458000													17	42					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73045779	73045779	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr5:73045779G>A	ENST00000545377.1	+	3	327	c.151G>A	c.(151-153)Gag>Aag	p.E51K	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E51K|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E51K|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E51K|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E51K|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E51K	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		AGAGCGCATCGAGGATAACGT	0.473000													16	41					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107447786	107447786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:107447786C>T	ENST00000415149.2	+	6	907	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	BBX_ENST00000416476.2_Nonsense_Mutation_p.Q194*|BBX_ENST00000402543.1_Nonsense_Mutation_p.Q194*|BBX_ENST00000325805.8_Nonsense_Mutation_p.Q194*|BBX_ENST00000406780.1_Nonsense_Mutation_p.Q194*	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAATGCCTCAGCTTAACTT	0.443000													57	187					0	0	1	0	0
ISG15	9636	broad.mit.edu	37	1	949846	949846	+	Silent	SNP	C	C	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr1:949846C>T	ENST00000379389.4	+	2	637	c.486C>T	c.(484-486)ggC>ggT	p.G162G		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	162					cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGAGCCTGGCGGGCGGAGCT	0.637000													3	46					0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041509	207041509	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr2:207041509G>C	ENST00000407325.2	-	3	825	c.463C>G	c.(463-465)Ctg>Gtg	p.L155V	GPR1_ENST00000437420.1_Missense_Mutation_p.L155V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	155						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ATGACAATCAGAGAGTTCTTG	0.448000													48	41					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													4	8	---	---	---	---					
OR7E62P	26479	broad.mit.edu	37	2	71283122	71283123	+	RNA	INS	-	-	T	rs35074164		TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr2:71283122_71283123insT	ENST00000434990.1	-	0	61																											GGCACCACCCCCAGGAGTGGTG	0.530													4	7	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													6	11	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC			TCGA-E7-A6MF-01A-12D-A32B-08	TCGA-E7-A6MF-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d41a927-03d2-47bd-887e-febce78b94a5	ca8ff05c-f764-4604-8a93-b2d631ebcfea	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614													7	29	---	---	---	---