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
BRWD1	54014	broad.mit.edu	37	21	40572223	40572223	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr21:40572223C>T	ENST00000342449.3	-	39	4753	c.4675G>A	c.(4675-4677)Gaa>Aaa	p.E1559K	BRWD1_ENST00000333229.2_Missense_Mutation_p.E1559K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1559K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAGGAGGATTCACGAGCTCTG	0.443000													15	28					0	0	0.003163	0	0
NELL1	4745	broad.mit.edu	37	11	20907084	20907084	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:20907084A>G	ENST00000298925.5	+	6	838	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	NELL1_ENST00000532434.1_Missense_Mutation_p.K201E|NELL1_ENST00000357134.5_Missense_Mutation_p.K201E|NELL1_ENST00000325319.5_Missense_Mutation_p.K144E			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	201	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGGCTTATTCAAAGTAAGCAC	0.393000													13	26					0	0	0.001368	0	0
CR2	1380	broad.mit.edu	37	1	207639997	207639997	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:207639997G>A	ENST00000367057.3	+	2	374	c.185G>A	c.(184-186)aGt>aAt	p.S62N	CR2_ENST00000458541.2_Missense_Mutation_p.S62N|CR2_ENST00000367059.3_Missense_Mutation_p.S62N|CR2_ENST00000367058.3_Missense_Mutation_p.S62N	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	62	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGAGAAAAAAGTCTATTATGC	0.398000													24	91					0	0	0.002780	0	0
KAZN	23254	broad.mit.edu	37	1	15287295	15287295	+	Silent	SNP	C	C	T	rs150589352	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:15287295C>T	ENST00000376030.2	+	2	636	c.342C>T	c.(340-342)gtC>gtT	p.V114V	KAZN_ENST00000400797.3_Silent_p.V20V|KAZN_ENST00000422387.2_Silent_p.V114V|KAZN_ENST00000361144.5_Silent_p.V108V|KAZN_ENST00000400798.2_Silent_p.V20V|KAZN_ENST00000503743.1_Silent_p.V114V	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	114					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCTCTGAGGTCCTCTCGGCCA	0.612000													7	10					0	0	0.003080	0	0
GPR156	165829	broad.mit.edu	37	3	119912164	119912164	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:119912164C>T	ENST00000464295.1	-	4	786	c.341G>A	c.(340-342)aGc>aAc	p.S114N	GPR156_ENST00000315843.3_Missense_Mutation_p.S114N|GPR156_ENST00000461057.1_Missense_Mutation_p.S114N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	114						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TTCCATTGAGCTCCCCACTAA	0.413000													27	44					0	0	0.009535	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024771	203024771	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:203024771G>A	ENST00000367240.2	+	15	2505	c.1978G>A	c.(1978-1980)Gac>Aac	p.D660N	PPFIA4_ENST00000295706.4_Missense_Mutation_p.D175N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.D388N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.D175N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.D659N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.D175N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	175					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGCTGCCCAGGACCTGGACCG	0.657000													9	43					0	0	0.008291	0	0
CCKBR	887	broad.mit.edu	37	11	6292427	6292427	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:6292427G>A	ENST00000525462.1	+	4	1208	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	CCKBR_ENST00000532715.1_Missense_Mutation_p.R249Q|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.R333Q			P32239	GASR_HUMAN	cholecystokinin B receptor	333					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGCGTGGTGCGAATGTTGCTG	0.632000													6	37					0	0	0.001168	0	0
LINC00922	283867	broad.mit.edu	37	16	65397150	65397150	+	RNA	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:65397150G>C	ENST00000569736.1	-	0	530				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						GAACACAGTAGAGAATGCTGA	0.428000													9	24					0	0	0.001368	0	0
VPRBP	9730	broad.mit.edu	37	3	51450829	51450829	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:51450829C>T	ENST00000335891.5	-	13	2605	c.2596G>A	c.(2596-2598)Gca>Aca	p.A866T				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1315	LisH.				interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCATCATCTGCCTGCAACATA	0.433000													5	8					0	0	0.000602	0	0
ACTR5	79913	broad.mit.edu	37	20	37396229	37396229	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:37396229C>T	ENST00000243903.4	+	8	1593	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	519					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CCCTTCCGGTCTTCTTTTCAG	0.413000													7	55					0	0	0.001984	0	0
SLC10A4	201780	broad.mit.edu	37	4	48487038	48487038	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:48487038C>A	ENST00000273861.4	+	2	899	c.680C>A	c.(679-681)cCt>cAt	p.P227H		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	227						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATCAACACCCCTATCGTGCAG	0.552000													62	126					6.26901e-30	7.63891e-30	0.003610	1	0
FSIP2	401024	broad.mit.edu	37	2	186672432	186672432	+	Silent	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:186672432T>C	ENST00000343098.5	+	17	18666	c.18666T>C	c.(18664-18666)taT>taC	p.Y6222Y	FSIP2_ENST00000424728.1_Silent_p.Y6133Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGCAGAGCTATTTTTGTGGAG	0.393000													5	93					0	0	0.000602	0	0
ATXN10	25814	broad.mit.edu	37	22	46088947	46088947	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:46088947C>G	ENST00000252934.5	+	3	645	c.380C>G	c.(379-381)tCt>tGt	p.S127C	ATXN10_ENST00000381061.4_Missense_Mutation_p.S63C|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	127					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		p.S127C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GAACAGGAATCTCTGTTGACA	0.333000													8	27					0	0	0.004482	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625980	29625980	+	Missense_Mutation	SNP	A	A	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:29625980A>C	ENST00000278882.3	+	5	604	c.224A>C	c.(223-225)cAa>cCa	p.Q75P	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q75P|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q80P																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CCAGTCTTTCAAAATGTAAGT	0.328000													6	61					0	0	0.003080	0	0
CCDC158	339965	broad.mit.edu	37	4	77300534	77300534	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:77300534G>A	ENST00000388914.3	-	8	1090	c.938C>T	c.(937-939)tCt>tTt	p.S313F	CCDC158_ENST00000434846.2_Missense_Mutation_p.S313F	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	313										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CATATACATAGAGTTTTGGTT	0.383000													10	41					0	0	0.001855	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375945	93375945	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:93375945G>A	ENST00000375765.3	-	2	553	c.165C>T	c.(163-165)tgC>tgT	p.C55C		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	55					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TCTGCAATGTGCATATGCTCT	0.567000													73	23					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55542523	55542523	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:55542523T>A	ENST00000220676.1	+	4	6229	c.6081T>A	c.(6079-6081)gaT>gaA	p.D2027E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2027					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCAACCAGATTTGAAGGAAA	0.338000													26	119					0	0	0.005443	0	0
CCPG1	9236	broad.mit.edu	37	15	55677908	55677908	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:55677908G>T	ENST00000310958.6	-	3	363	c.65C>A	c.(64-66)tCa>tAa	p.S22*	CCPG1_ENST00000425574.3_Nonsense_Mutation_p.S22*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S22*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S22*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	22	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCTATATCTGACCCCTAAGG	0.403000													9	14					1.12685e-05	1.23578e-05	0.004482	1	0
URB2	9816	broad.mit.edu	37	1	229770966	229770966	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:229770966C>T	ENST00000258243.2	+	4	742	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	202						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTCACCTGCTCCAGCCGTGCC	0.607000													8	61					0	0	0.006214	0	0
FLG	2312	broad.mit.edu	37	1	152283117	152283117	+	Silent	SNP	T	T	C	rs150981235		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:152283117T>C	ENST00000368799.1	-	3	4280	c.4245A>G	c.(4243-4245)caA>caG	p.Q1415Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1415	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCCCAGCTTGTCCGTGGG	0.562000									Ichthyosis				10	247					0	0	0.004990	0	0
MKLN1	4289	broad.mit.edu	37	7	131122674	131122674	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:131122674A>T	ENST00000352689.6	+	10	1131	c.1091A>T	c.(1090-1092)tAt>tTt	p.Y364F	MKLN1_ENST00000421797.2_Missense_Mutation_p.Y272F	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	364					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTCTATCGTTATGACATTGAT	0.413000													56	75					0	0	0.003610	0	0
CASR	846	broad.mit.edu	37	3	122003858	122003858	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:122003858G>A	ENST00000498619.1	+	7	3525	c.3087G>A	c.(3085-3087)ggG>ggA	p.G1029G	CASR_ENST00000296154.5_Silent_p.G1019G|CASR_ENST00000490131.1_Silent_p.G1019G	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1019					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGCAGTGCGGGGAAACGGACT	0.602000													13	58					0	0	0.002450	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832997	101832997	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:101832997G>A	ENST00000263468.8	+	6	1501	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E212K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	411							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATTAGTTACTGAGAGCCCAAC	0.378000													8	174					0	0	0.006214	0	0
VWF	7450	broad.mit.edu	37	12	6128892	6128892	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:6128892T>G	ENST00000261405.5	-	28	3946	c.3692A>C	c.(3691-3693)aAc>aCc	p.N1231T		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1231					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACAGGTGAGGTTGACAACATC	0.542000													4	19					0	0	0.001168	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478275	106478275	+	RNA	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:106478275C>T	ENST00000390596.2	-	0	246																											CCAGTCCCTTCCCGGCGGGCT	0.577000													17	203					0	0	0.004007	0	0
VPS13C	54832	broad.mit.edu	37	15	62254026	62254026	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:62254026T>C	ENST00000261517.5	-	35	3743	c.3670A>G	c.(3670-3672)Agg>Ggg	p.R1224G	VPS13C_ENST00000395898.3_Missense_Mutation_p.R1181G|VPS13C_ENST00000395896.4_Missense_Mutation_p.R1224G|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1181G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1224					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTGGCAGCCCTTTCTGCAGCC	0.438000													19	54					0	0	0.008871	0	0
OR2T12	127064	broad.mit.edu	37	1	248458195	248458195	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:248458195G>T	ENST00000317996.1	-	1	685	c.686C>A	c.(685-687)aCa>aAa	p.T229K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCGGGCTTCTGTAGAGCGCAT	0.517000													16	60					2.35188e-11	2.75363e-11	0.006122	1	0
CD163	9332	broad.mit.edu	37	12	7649555	7649555	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:7649555C>G	ENST00000359156.4	-	5	1155	c.953G>C	c.(952-954)cGa>cCa	p.R318P	CD163_ENST00000396620.3_Missense_Mutation_p.R318P|CD163_ENST00000432237.2_Missense_Mutation_p.R318P|CD163_ENST00000541972.1_Missense_Mutation_p.R306P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	318	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGCGTTAACTCGACCAATGGC	0.517000													35	34					0	0	0.012213	0	0
PARL	55486	broad.mit.edu	37	3	183560190	183560190	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:183560190G>A	ENST00000317096.4	-	6	713	c.653C>T	c.(652-654)tCc>tTc	p.S218F	PARL_ENST00000435888.1_Intron|PARL_ENST00000311101.5_Intron	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	218					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTGAAATAAGGAGAAATGACT	0.398000													21	87					0	0	0.008871	0	0
FAM135B	51059	broad.mit.edu	37	8	139263195	139263195	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:139263195G>A	ENST00000395297.1	-	6	601	c.431C>T	c.(430-432)cCc>cTc	p.P144L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	144										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCATTCCGGGGGTGGAAGTG	0.597000										HNSCC(54;0.14)			12	134					0	0	0.002450	0	0
ABCC9	10060	broad.mit.edu	37	12	21998701	21998701	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:21998701G>T	ENST00000261200.4	-	24	2931	c.2932C>A	c.(2932-2934)Cca>Aca	p.P978T	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.P942T|ABCC9_ENST00000261201.4_Missense_Mutation_p.P978T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	978					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTTTCCATGGCATTTTAGTC	0.418000													9	46					3.09899e-07	3.49166e-07	0.004482	1	0
DUOX1	53905	broad.mit.edu	37	15	45455880	45455880	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:45455880A>G	ENST00000321429.4	+	33	4806	c.4399A>G	c.(4399-4401)Atg>Gtg	p.M1467V	DUOX1_ENST00000389037.3_Missense_Mutation_p.M1467V|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.M1113V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1467					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGACCACTATGCTGGTATG	0.562000											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	69					0	0	0.001368	0	0
ASTE1	28990	broad.mit.edu	37	3	130743229	130743229	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:130743229C>G	ENST00000264992.3	-	3	1363	c.922G>C	c.(922-924)Gac>Cac	p.D308H	ASTE1_ENST00000514044.1_Missense_Mutation_p.D308H	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	308					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TGGAAGAAGTCCTGTAGCTTC	0.423000													7	79					0	0	0.001984	0	0
BAGE2	85319	broad.mit.edu	37	21	11058206	11058206	+	RNA	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr21:11058206T>C	ENST00000470054.1	-	0	441									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGCAGGAAGATGTGACTGAAA	0.408000													3	55					0	0	0.003080	0	0
PRRC2A	7916	broad.mit.edu	37	6	31598493	31598493	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:31598493G>C	ENST00000376033.2	+	15	2614	c.2380G>C	c.(2380-2382)Gat>Cat	p.D794H	PRRC2A_ENST00000376007.4_Missense_Mutation_p.D794H	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	794	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTGGGTAGGAGATGTCTTCAC	0.597000													15	30					0	0	0.003163	0	0
ALDH3B1	221	broad.mit.edu	37	11	67789312	67789312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:67789312C>T	ENST00000539229.1	+	9	1032	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	ALDH3B1_ENST00000007633.8_Nonsense_Mutation_p.Q306*|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Nonsense_Mutation_p.Q270*	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	308					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	CATTGGGGGCCAGAGCGATGA	0.662000													13	37					0	0	0.001368	0	0
TREML1	340205	broad.mit.edu	37	6	41119090	41119090	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:41119090G>C	ENST00000373127.4	-	3	457	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V	TREML1_ENST00000437044.2_Missense_Mutation_p.L26V|TREML1_ENST00000426005.2_Missense_Mutation_p.L137V	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	137					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTCTCAGCCAGACTGCCAATC	0.517000													16	52					0	0	0.004007	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129959657	129959657	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129959657G>T	ENST00000368149.2	-	3	522	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	145					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AACTGCTGCTGCCTGGGTCCG	0.478000													25	72					5.35047e-06	5.88731e-06	0.003330	1	0
C3AR1	719	broad.mit.edu	37	12	8211882	8211882	+	Silent	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:8211882A>T	ENST00000307637.4	-	2	1103	c.900T>A	c.(898-900)gcT>gcA	p.A300A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	300					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AATTGCTAGAAGCGCTAGGGA	0.448000													34	64					0	0	0.003271	0	0
PEX5L	51555	broad.mit.edu	37	3	179525538	179525538	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:179525538C>T	ENST00000467460.1	-	14	1930	c.1600G>A	c.(1600-1602)Gca>Aca	p.A534T	PEX5L_ENST00000485199.1_Missense_Mutation_p.A499T|PEX5L_ENST00000472994.1_Missense_Mutation_p.A475T|PEX5L_ENST00000468741.1_Missense_Mutation_p.A342T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A510T|PEX5L_ENST00000476138.1_Missense_Mutation_p.A491T|PEX5L_ENST00000464614.1_Missense_Mutation_p.A426T|PEX5L_ENST00000392649.3_Missense_Mutation_p.A426T|PEX5L_ENST00000263962.8_Missense_Mutation_p.A532T	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	534					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATCTCCAGTGCTCGCGTATAG	0.557000													62	105					0	0	0.003610	0	0
UBR1	197131	broad.mit.edu	37	15	43346982	43346982	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:43346982T>A	ENST00000290650.4	-	12	1475	c.1397A>T	c.(1396-1398)cAg>cTg	p.Q466L	UBR1_ENST00000382177.2_Missense_Mutation_p.Q466L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	466					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAATTTGTCCTGGCTATAACC	0.388000													29	49					0	0	0.009535	0	0
SF3B3	23450	broad.mit.edu	37	16	70575647	70575647	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:70575647A>G	ENST00000302516.5	+	9	1354	c.1143A>G	c.(1141-1143)gaA>gaG	p.E381E		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	381					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTCTGGAAGAAGGAGACACAT	0.448000													36	99					0	0	0.002836	0	0
BCL11A	53335	broad.mit.edu	37	2	60687943	60687943	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:60687943G>A	ENST00000335712.6	-	4	2331	c.2104C>T	c.(2104-2106)Ccg>Tcg	p.P702S	BCL11A_ENST00000358510.4_Missense_Mutation_p.P668S|BCL11A_ENST00000537768.1_Missense_Mutation_p.P371S|BCL11A_ENST00000356842.4_Missense_Mutation_p.P702S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.P668S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	702					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCCCCGGGCGGTGTGGAGAAG	0.652000			T	IGH@	B-CLL								13	31					0	0	0.001855	0	0
TLR4	7099	broad.mit.edu	37	9	120475917	120475917	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:120475917C>G	ENST00000355622.6	+	3	1612	c.1511C>G	c.(1510-1512)tCt>tGt	p.S504C	TLR4_ENST00000394487.4_Missense_Mutation_p.S464C|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	504					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTGGACCTCTCTCAGTGTCAA	0.438000													10	51					0	0	0.008291	0	0
ZEB1	6935	broad.mit.edu	37	10	31803553	31803553	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:31803553G>T	ENST00000446923.2	+	6	1050	c.659G>T	c.(658-660)tGt>tTt	p.C220F	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.C169F|ZEB1_ENST00000560721.2_Missense_Mutation_p.C216F|ZEB1_ENST00000320985.10_Missense_Mutation_p.C236F|ZEB1_ENST00000361642.5_Missense_Mutation_p.C237F	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	236					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGTCTGGGTGTAATCGTAAA	0.328000													7	41					2.0095e-06	2.22601e-06	0.001984	1	0
MRPS15	64960	broad.mit.edu	37	1	36921787	36921787	+	Splice_Site	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:36921787C>G	ENST00000373116.5	-	7	798		c.e7+1		MRPS15_ENST00000488606.1_Splice_Site	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15						translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGACTCGTACCCGAATGCAC	0.552000													9	48					0	0	0.004482	0	0
TTC7B	145567	broad.mit.edu	37	14	91142901	91142901	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:91142901A>G	ENST00000357056.2	-	9	1239	c.1118T>C	c.(1117-1119)cTt>cCt	p.L373P	TTC7B_ENST00000328459.6_Missense_Mutation_p.L373P			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	373							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCTTCTTCCAAGAGCAATGGT	0.547000													11	68					0	0	0.008291	0	0
BOC	91653	broad.mit.edu	37	3	112968723	112968723	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:112968723C>A	ENST00000495514.1	+	3	778	c.74C>A	c.(73-75)aCa>aAa	p.T25K	BOC_ENST00000484034.1_Missense_Mutation_p.T25K|BOC_ENST00000273395.4_Missense_Mutation_p.T25K|BOC_ENST00000355385.3_Missense_Mutation_p.T25K|BOC_ENST00000485230.1_Missense_Mutation_p.T25K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	25					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTCCTAGCCACAGCAGGCTGC	0.507000													6	23					3.59834e-05	3.9071e-05	0.001168	1	0
FGG	2266	broad.mit.edu	37	4	155528082	155528082	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:155528082G>T	ENST00000404648.3	-	8	1143	c.904C>A	c.(904-906)Cta>Ata	p.L302I	FGG_ENST00000336098.3_Missense_Mutation_p.L302I|FGG_ENST00000407946.1_Missense_Mutation_p.L310I|FGG_ENST00000405164.1_Missense_Mutation_p.L310I	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	302	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCATATGTTAGGCGGTACTTG	0.478000													9	55					1.76689e-08	2.02546e-08	0.006214	1	0
C6orf58	352999	broad.mit.edu	37	6	127899855	127899855	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:127899855G>A	ENST00000329722.7	+	2	338	c.326G>A	c.(325-327)aGg>aAg	p.R109K		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	109						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCAACCCGAAGGACAAACTGT	0.418000													53	64					0	0	0.003610	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091940	30091940	+	RNA	SNP	A	A	C	rs2015877	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr18:30091940A>C	ENST00000567636.1	+	0	315					NR_003558.1																						GTTTGAGCTGAAGTTTTAAAG	0.418000													3	28					0	0	0.004672	0	0
TIAL1	7073	broad.mit.edu	37	10	121342100	121342100	+	Silent	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:121342100G>C	ENST00000369093.2	-	3	179	c.150C>G	c.(148-150)gtC>gtG	p.V50V	TIAL1_ENST00000436547.2_Intron|TIAL1_ENST00000369092.4_Intron	NM_001033925.1	NP_001029097.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	43	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CAGAAGAGTTGACCCTTCTGC	0.408000													21	37					0	0	0.008871	0	0
ESCO1	114799	broad.mit.edu	37	18	19153946	19153946	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr18:19153946G>C	ENST00000269214.5	-	4	1796	c.859C>G	c.(859-861)Caa>Gaa	p.Q287E		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	287					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTATCACTTTGTTCAGGCACT	0.423000													23	59					0	0	0.012319	0	0
GRM1	2911	broad.mit.edu	37	6	146755040	146755040	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:146755040C>T	ENST00000361719.2	+	9	3163	c.2693C>T	c.(2692-2694)cCa>cTa	p.P898L	GRM1_ENST00000507907.1_Intron|GRM1_ENST00000355289.4_Intron|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P898L|GRM1_ENST00000392299.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	898					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGTCTGAACCAGGTGGAGGA	0.458000													4	32					0	0	0.009096	0	0
GRB10	2887	broad.mit.edu	37	7	50663143	50663143	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:50663143C>A	ENST00000403097.1	-	17	2391	c.1611G>T	c.(1609-1611)caG>caT	p.Q537H	GRB10_ENST00000402497.1_Missense_Mutation_p.Q485H|GRB10_ENST00000401949.1_Missense_Mutation_p.Q543H|GRB10_ENST00000402578.1_Missense_Mutation_p.Q485H|GRB10_ENST00000398810.2_Missense_Mutation_p.Q485H|GRB10_ENST00000439599.1_Missense_Mutation_p.Q537H|GRB10_ENST00000398812.2_Missense_Mutation_p.Q543H|GRB10_ENST00000406641.1_Missense_Mutation_p.Q485H|GRB10_ENST00000335866.3_Missense_Mutation_p.Q485H|GRB10_ENST00000407526.1_Missense_Mutation_p.Q485H|GRB10_ENST00000357271.5_Missense_Mutation_p.Q497H			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	543	SH2.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CAGGTAAGATCTGGAAATTTT	0.398000									Russell-Silver syndrome				56	99					2.31391e-43	2.84058e-43	0.003610	1	0
IFT80	57560	broad.mit.edu	37	3	160095241	160095241	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:160095241T>C	ENST00000326448.7	-	4	779	c.347A>G	c.(346-348)tAt>tGt	p.Y116C	IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	116						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCTTCATAATTCCATCT	0.308000													10	61					0	0	0.010729	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374508	95374508	+	RNA	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:95374508C>G	ENST00000494840.1	-	0	1353					NR_077228.1																						CAACATTACTCAGTTTATTTA	0.403000													3	16					0	0	0.004672	0	0
CPT1C	126129	broad.mit.edu	37	19	50212082	50212082	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:50212082G>C	ENST00000392518.4	+	14	1924	c.1552G>C	c.(1552-1554)Gac>Cac	p.D518H	CPT1C_ENST00000598293.1_Missense_Mutation_p.D518H|CPT1C_ENST00000323446.5_Missense_Mutation_p.D518H|CPT1C_ENST00000354199.5_Missense_Mutation_p.D518H|CPT1C_ENST00000405931.2_Missense_Mutation_p.D507H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	518					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCTGCAATGGGACCTTCCAGA	0.587000													15	39					0	0	0.004007	0	0
FCAR	2204	broad.mit.edu	37	19	55401062	55401062	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:55401062G>A	ENST00000355524.3	+	5	707	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	FCAR_ENST00000353758.4_Missense_Mutation_p.V124M|FCAR_ENST00000359272.4_Missense_Mutation_p.V221M|FCAR_ENST00000345937.4_Missense_Mutation_p.V137M|FCAR_ENST00000391724.3_Missense_Mutation_p.V199M|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.V211M|FCAR_ENST00000391723.3_Missense_Mutation_p.R196H|FCAR_ENST00000391726.3_Missense_Mutation_p.V125M	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	233					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCGCATGGCCGTGGCAGGACT	0.527000													47	186					0	0	0.003610	0	0
SPTBN1	6711	broad.mit.edu	37	2	54859772	54859772	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:54859772G>C	ENST00000333896.5	+	16	3980	c.3595G>C	c.(3595-3597)Gag>Cag	p.E1199Q	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E1212Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1212					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TAAAAAGCAAGAGGACTTCAT	0.478000													6	39					0	0	0.001168	0	0
EMB	133418	broad.mit.edu	37	5	49706781	49706781	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:49706781G>A	ENST00000303221.5	-	4	617	c.402C>T	c.(400-402)agC>agT	p.S134S	EMB_ENST00000514111.1_Silent_p.S84S|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Silent_p.S80S	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	134	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCATTTGTTTGCTATTAATGA	0.284000													5	18					0	0	0.001168	0	0
OR7A5	26659	broad.mit.edu	37	19	14938380	14938380	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:14938380A>G	ENST00000322301.3	-	2	761	c.674T>C	c.(673-675)aTa>aCa	p.I225T	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.I225T			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GATTGCATGTATGGAAGAAAT	0.443000													16	62					0	0	0.004990	0	0
DNAH8	1769	broad.mit.edu	37	6	38819387	38819387	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:38819387C>T	ENST00000359357.3	+	37	5006	c.4752C>T	c.(4750-4752)ttC>ttT	p.F1584F	DNAH8_ENST00000441566.1_Silent_p.F1584F|DNAH8_ENST00000449981.2_Silent_p.F1801F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGATTCTTCTTTGTATCTG	0.353000													6	34					0	0	0.001168	0	0
SNX21	90203	broad.mit.edu	37	20	44469390	44469390	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:44469390G>A	ENST00000372542.1	+	3	845	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R187Q|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R187Q|SNX21_ENST00000372541.1_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	187	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	p.R187L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGGCAATTCCGGGGCCCAATG	0.627000													31	65					0	0	0.009535	0	0
STIM2	57620	broad.mit.edu	37	4	27004653	27004653	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:27004653G>A	ENST00000382009.3	+	7	1436	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	STIM2_ENST00000237364.5_Missense_Mutation_p.R390Q|STIM2_ENST00000465503.1_Missense_Mutation_p.R303Q|STIM2_ENST00000467011.1_Missense_Mutation_p.R303Q|STIM2_ENST00000412829.2_Missense_Mutation_p.R390Q|STIM2_ENST00000467087.1_Missense_Mutation_p.R303Q	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	303					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GAGGCTTGTCGGCTGAGAGAG	0.388000													13	28					0	0	0.003163	0	0
ATRIP	84126	broad.mit.edu	37	3	48505262	48505262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:48505262C>T	ENST00000412052.1	+	9	2047	c.1585C>T	c.(1585-1587)Cag>Tag	p.Q529*	ATRIP_ENST00000320211.3_Nonsense_Mutation_p.Q622*|ATRIP_ENST00000346691.4_Nonsense_Mutation_p.Q622*|ATRIP_ENST00000357105.6_Nonsense_Mutation_p.Q495*	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	622					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTGGCACCTCAGCTCTGTTC	0.627000								Other conserved DNA damage response genes					5	26					0	0	0.000602	0	0
SACS	26278	broad.mit.edu	37	13	23945292	23945292	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:23945292T>A	ENST00000382298.3	-	4	772	c.184A>T	c.(184-186)Atc>Ttc	p.I62F	SACS_ENST00000402364.1_Intron|SACS_ENST00000382292.3_Missense_Mutation_p.I62F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	62	Ubiquitin-like.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAATCTTGATCCAGTCAGAT	0.303000													9	21					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179615732	179615732	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:179615732C>T	ENST00000360870.5	-	46	11617	c.11395G>A	c.(11395-11397)Gaa>Aaa	p.E3799K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9636			S -> Y (in CMD1G).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAATTTCTTCATCAACAATA	0.343000													6	153					0	0	0.001168	0	0
GRIK3	2899	broad.mit.edu	37	1	37271712	37271712	+	Silent	SNP	C	C	T	rs114469448	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:37271712C>T	ENST00000373091.3	-	14	2323	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	GRIK3_ENST00000373093.4_Silent_p.T769T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	769					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CACCCATGGGCGTGCCGATGC	0.647000													12	35					0	0	0.002450	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601613	7601613	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:7601613C>T	ENST00000342415.5	+	5	510	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	151					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAATCACAAACGGTTTGTTTG	0.328000													17	54					0	0	0.006122	0	0
MCHR1	2847	broad.mit.edu	37	22	41077104	41077104	+	Silent	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:41077104C>A	ENST00000249016.4	+	2	1137	c.441C>A	c.(439-441)ccC>ccA	p.P147P	MCHR1_ENST00000381433.2_Silent_p.P147P|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	147					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ACAACGTCCCCGACATCTTCA	0.562000													14	54					0.000151284	0.000163189	0.001855	1	0
BNC2	54796	broad.mit.edu	37	9	16419593	16419593	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:16419593G>A	ENST00000380672.4	-	7	2751	c.2694C>T	c.(2692-2694)gaC>gaT	p.D898D	BNC2_ENST00000545497.1_Silent_p.D803D|BNC2_ENST00000380667.2_Silent_p.D831D	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CCAGGCCCATGTCATCGAGTT	0.542000													42	14					0	0	0.006999	0	0
ACSL4	2182	broad.mit.edu	37	X	108912328	108912328	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:108912328G>C	ENST00000340800.2	-	11	1704	c.1200C>G	c.(1198-1200)ttC>ttG	p.F400L	ACSL4_ENST00000469796.2_Missense_Mutation_p.F400L|ACSL4_ENST00000348502.6_Missense_Mutation_p.F359L	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	400					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	ACCCTATCTTGAACAGAGTTT	0.323000													14	33					0	0	0.001855	0	0
ZNF462	58499	broad.mit.edu	37	9	109734354	109734354	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:109734354A>T	ENST00000277225.5	+	8	6785	c.6496A>T	c.(6496-6498)Agg>Tgg	p.R2166W	ZNF462_ENST00000441147.2_Missense_Mutation_p.R1072W|ZNF462_ENST00000542028.1_Missense_Mutation_p.R123W|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2226W			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCCCTGGCAAGGAACAACAG	0.527000													48	15					0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121222116	121222116	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:121222116G>A	ENST00000297848.3	+	12	1713	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	COL14A1_ENST00000309791.4_Silent_p.E481E|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.E386E|COL14A1_ENST00000537875.1_Silent_p.E481E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	481	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCTAACAGAGGGCCTGGCTG	0.413000													18	49					0	0	0.006122	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870132	131870132	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:131870132G>C	ENST00000359827.3	-	16	4046	c.3084C>G	c.(3082-3084)atC>atG	p.I1028M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.I1028M			Q9HCM2	PLXA4_HUMAN	plexin A4	1028	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane		p.I1028M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCCTGGTGGATCTTGGCCC	0.557000													8	45					0	0	0.006214	0	0
PHRF1	57661	broad.mit.edu	37	11	607244	607244	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:607244G>A	ENST00000264555.5	+	14	1916	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	PHRF1_ENST00000413872.2_Silent_p.A594A|PHRF1_ENST00000416188.2_Silent_p.A595A|PHRF1_ENST00000533464.1_Silent_p.A592A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	596							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCGCACCGCGGGGGCGCCTG	0.692000													14	44					0	0	0.002450	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528763	65528763	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:65528763C>T	ENST00000310193.3	-	3	508	c.335G>A	c.(334-336)cGa>cAa	p.R112Q		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	112					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGAAAATACTCGAAAGCTTAA	0.313000													3	36					0	0	0.004672	0	0
AKAP13	11214	broad.mit.edu	37	15	86286764	86286764	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:86286764C>G	ENST00000394518.2	+	36	8195	c.8100C>G	c.(8098-8100)ttC>ttG	p.F2700L	AKAP13_ENST00000361243.2_Missense_Mutation_p.F2704L|AKAP13_ENST00000394510.2_Missense_Mutation_p.F945L|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2700	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCCCATCGTTCTTCCCCAGTC	0.517000													8	58					0	0	0.003080	0	0
LRRC16B	90668	broad.mit.edu	37	14	24531703	24531703	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:24531703C>G	ENST00000342740.5	+	28	2649	c.2495C>G	c.(2494-2496)tCa>tGa	p.S832*	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	832										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GTGAAGCTCTCAGTCGTCACC	0.572000													28	110					0	0	0.008361	0	0
TRMT5	57570	broad.mit.edu	37	14	61444232	61444232	+	Splice_Site	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:61444232C>A	ENST00000261249.6	-	3	1176	c.792_splice	c.e3+1	p.K264_splice	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	264						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TAAAATATACCTTTGTCATCA	0.313000													8	64					7.48243e-07	8.37319e-07	0.006214	1	0
HTT	3064	broad.mit.edu	37	4	3225795	3225795	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:3225795A>G	ENST00000355072.5	+	56	7847	c.7702A>G	c.(7702-7704)Att>Gtt	p.I2568V		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2568					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGAGAGAATATTGCCACCCA	0.468000													22	82					0	0	0.003330	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85500352	85500352	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:85500352G>T	ENST00000393217.2	+	15	3397	c.3336G>T	c.(3334-3336)ttG>ttT	p.L1112F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1112										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCCATGAATTGTCTCTTACTG	0.338000													8	49					0.000157383	0.000168114	0.003080	1	0
KMT2E	55904	broad.mit.edu	37	7	104752438	104752438	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:104752438C>G	ENST00000334877.4	+	26	4643	c.4109C>G	c.(4108-4110)tCa>tGa	p.S1370*	KMT2E_ENST00000334914.7_Nonsense_Mutation_p.S467*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.S1412*|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Nonsense_Mutation_p.S1412*					lysine (K)-specific methyltransferase 2E																		CAAGCACTTTCAAAGAATCAT	0.433000													17	81					0	0	0.008871	0	0
ABCC5	10057	broad.mit.edu	37	3	183703150	183703150	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:183703150C>T	ENST00000382494.2	-	6	722	c.608G>A	c.(607-609)tGt>tAt	p.C203Y	ABCC5_ENST00000334444.6_Intron|ABCC5_ENST00000427120.2_3'UTR|ABCC5_ENST00000265586.6_Intron|ABCC5_ENST00000392579.2_Intron	NM_001023587.1	NP_001018881.1	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	0	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCAGAATACAGCCATCCTG	0.488000													17	132					0	0	0.004990	0	0
SPATC1	375686	broad.mit.edu	37	8	145096194	145096194	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145096194G>A	ENST00000377470.3	+	4	1470	c.1368G>A	c.(1366-1368)agG>agA	p.R456R	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	456										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACCGCAGGATCCTGTCCA	0.622000													7	30					0	0	0.001984	0	0
NRXN1	9378	broad.mit.edu	37	2	50318511	50318511	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:50318511T>A	ENST00000404971.1	-	20	5127	c.3788A>T	c.(3787-3789)aAt>aTt	p.N1263I	NRXN1_ENST00000401710.1_Missense_Mutation_p.N241I|NRXN1_ENST00000405472.3_Missense_Mutation_p.N1215I|NRXN1_ENST00000401669.2_Missense_Mutation_p.N1223I|NRXN1_ENST00000406859.3_Missense_Mutation_p.N1223I|NRXN1_ENST00000342183.5_Missense_Mutation_p.N188I|NRXN1_ENST00000406316.2_Missense_Mutation_p.N1223I|NRXN1_ENST00000402717.3_Missense_Mutation_p.N1215I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1223	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAACGTGGCATTGCCACCACT	0.453000													25	128					0	0	0.007291	0	0
NPTXR	23467	broad.mit.edu	37	22	39218697	39218697	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:39218697G>A	ENST00000333039.2	-	5	1543	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	474	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TCTTCCCAGGGAAGGACGTTG	0.617000													6	17					0	0	0.001168	0	0
PES1	23481	broad.mit.edu	37	22	30983347	30983347	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:30983347C>G	ENST00000354694.6	-	4	400	c.294G>C	c.(292-294)aaG>aaC	p.K98N	PES1_ENST00000405677.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.K98N|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.K98N	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	98	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCCACTCGCTCTTCCCATAAG	0.507000													13	55					0	0	0.002450	0	0
SYNE2	23224	broad.mit.edu	37	14	64595181	64595181	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64595181G>T	ENST00000357395.3	+	75	14228	c.3084G>T	c.(3082-3084)aaG>aaT	p.K1028N	SYNE2_ENST00000344113.4_Missense_Mutation_p.K4643N|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1028N|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1277N|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4643N			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4643					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGAAATAAAGAGATTATATC	0.318000													7	49					0.000157383	0.000168114	0.003080	1	0
SUPT5H	6829	broad.mit.edu	37	19	39957129	39957129	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:39957129G>A	ENST00000599117.1	+	13	1253	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	SUPT5H_ENST00000402194.2_Missense_Mutation_p.V292M|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V296M|SUPT5H_ENST00000359191.6_Missense_Mutation_p.V292M|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V296M			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	296	KOW 1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTGGACTACGTGGAGCCCAG	0.592000													13	26					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9047546	9047546	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:9047546G>A	ENST00000397910.4	-	5	34288	c.34085C>T	c.(34084-34086)cCc>cTc	p.P11362L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11364	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P11362L(1)|p.P6995L(1)		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						GGTTGTCCTGGGAACTGTTGT	0.488000													33	149					0	0	0.004878	0	0
ZNF83	55769	broad.mit.edu	37	19	53116465	53116465	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53116465G>T	ENST00000597597.1	-	2	3606	c.1353C>A	c.(1351-1353)caC>caA	p.H451Q	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.H451Q|ZNF83_ENST00000544146.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000545872.1_Missense_Mutation_p.H451Q|ZNF83_ENST00000541777.2_Missense_Mutation_p.H451Q|ZNF83_ENST00000391789.4_Missense_Mutation_p.H423Q			P51522	ZNF83_HUMAN	zinc finger protein 83	451						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTGTGAATTTTCC	0.388000													19	64					7.45023e-12	8.78539e-12	0.010504	1	0
PRKCG	5582	broad.mit.edu	37	19	54392993	54392993	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:54392993G>C	ENST00000263431.3	+	4	669	c.387G>C	c.(385-387)atG>atC	p.M129I	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.M129I|PRKCG_ENST00000536044.1_Missense_Mutation_p.M129I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	129					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACCAGGGCATGAAATGCTCCT	0.632000													4	23					0	0	0.009096	0	0
BRD4	23476	broad.mit.edu	37	19	15350615	15350615	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:15350615G>A	ENST00000263377.2	-	16	3521	c.3300C>T	c.(3298-3300)tcC>tcT	p.S1100S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1100					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTGGACCACGGAGGCAGCAC	0.706000			T	C15orf55	lethal midline carcinoma of young people								21	38					0	0	0.012319	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171106	70171106	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:70171106C>G	ENST00000253925.7	+	4	735	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	PPFIA1_ENST00000389547.3_Missense_Mutation_p.L174V|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	174					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCACAAAGCTCTGGATGAAAA	0.473000													16	341					0	0	0.003163	0	0
HYAL2	8692	broad.mit.edu	37	3	50357479	50357479	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:50357479T>C	ENST00000447092.1	-	1	2734	c.442A>G	c.(442-444)Aaa>Gaa	p.K148E	HYAL2_ENST00000442581.1_Missense_Mutation_p.K148E|HYAL2_ENST00000395139.3_Missense_Mutation_p.K148E|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000357750.4_Missense_Mutation_p.K148E			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	148						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TACACATCTTTGTCCTGCCAG	0.572000													36	15					0	0	0.005524	0	0
GABRB2	2561	broad.mit.edu	37	5	160758097	160758097	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:160758097G>A	ENST00000274547.2	-	9	1087	c.870C>T	c.(868-870)acC>acT	p.T290T	GABRB2_ENST00000520240.1_Silent_p.T290T|GABRB2_ENST00000517547.1_Silent_p.T130T|GABRB2_ENST00000393959.1_Silent_p.T290T|GABRB2_ENST00000353437.6_Silent_p.T290T|GABRB2_ENST00000517901.1_Silent_p.T227T	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	290					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCCGGAGGTGGGTGTTGATTG	0.423000													14	61					0	0	0.002450	0	0
IFIT2	3433	broad.mit.edu	37	10	91066959	91066959	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:91066959C>A	ENST00000371826.3	+	2	1415	c.1246C>A	c.(1246-1248)Caa>Aaa	p.Q416K	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	416					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AGACAAACTGCAAAAAATTGC	0.388000													23	76					9.57634e-11	1.11329e-10	0.003330	1	0
HSF4	3299	broad.mit.edu	37	16	67203679	67203679	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:67203679C>T	ENST00000264009.8	+	15	2435	c.1470C>T	c.(1468-1470)ccC>ccT	p.P490P	HSF4_ENST00000421453.1_Silent_p.P460P|HSF4_ENST00000521374.1_Silent_p.P490P|HSF4_ENST00000584272.1_Silent_p.P460P	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	490					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AAGCCAGTCCCTCCCCCTAAG	0.662000											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	47					0	0	0.002450	0	0
LRRC49	54839	broad.mit.edu	37	15	71197029	71197029	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:71197029G>C	ENST00000260382.5	+	5	695	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q135H|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q101H|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q150H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	145						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATGATAACCAGATTGAAGAAA	0.348000													32	99					0	0	0.002836	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890759	23890759	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:23890759C>T	ENST00000532292.1	-	1	416	c.322G>A	c.(322-324)Gct>Act	p.A108T		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AATGATTTAGCGGAGCCCAGG	0.632000													4	7					0	0	0.009096	0	0
LAMA2	3908	broad.mit.edu	37	6	129621886	129621886	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129621886G>A	ENST00000421865.2	+	22	3092	c.3043G>A	c.(3043-3045)Gaa>Aaa	p.E1015K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1015	Laminin EGF-like 11.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAAGCTTGTGAATGTTCTCA	0.378000													30	35					0	0	0.008361	0	0
RPL32P3	132241	broad.mit.edu	37	3	129112095	129112095	+	RNA	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:129112095C>G	ENST00000514355.1	-	0	718																				lung(1)	1						AAGTTCTGATCCAGAGTGTTT	0.527000													3	44					0	0	0.004672	0	0
TIGD4	201798	broad.mit.edu	37	4	153691231	153691231	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:153691231G>A	ENST00000304337.2	-	2	1746	c.926C>T	c.(925-927)tCa>tTa	p.S309L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	309	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGATAAACATGATGGAAAGAA	0.343000													6	46					0	0	0.001168	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75552009	75552009	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:75552009G>A	ENST00000604729.1	+	10	2009	c.1712G>A	c.(1711-1713)gGa>gAa	p.G571E	ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G571E|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G571E|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G571E|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G571E					zinc finger, SWIM-type containing 8																		GCTGAAGGGGGAGATAAAGCT	0.652000													3	35					0	0	0.004672	0	0
ZNF596	169270	broad.mit.edu	37	8	195664	195664	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:195664C>A	ENST00000398612.1	+	6	1200	c.817C>A	c.(817-819)Cac>Aac	p.H273N	ZNF596_ENST00000308811.4_Missense_Mutation_p.H273N|ZNF596_ENST00000320552.2_Missense_Mutation_p.H203N	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGAGATGATTCACACTAGAGA	0.408000													8	59					0.000274275	0.000292028	0.004482	1	0
MCF2L	23263	broad.mit.edu	37	13	113748882	113748882	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:113748882C>G	ENST00000397030.1	+	27	3144	c.3107C>G	c.(3106-3108)tCa>tGa	p.S1036*	MCF2L_ENST00000375604.2_Nonsense_Mutation_p.S1060*|MCF2L_ENST00000434480.2_Nonsense_Mutation_p.S1009*|MCF2L_ENST00000423482.2_Nonsense_Mutation_p.S1001*|MCF2L_ENST00000442652.2_Nonsense_Mutation_p.S1033*|MCF2L_ENST00000421756.1_Nonsense_Mutation_p.S1007*|MCF2L_ENST00000375608.3_Nonsense_Mutation_p.S1033*|MCF2L_ENST00000535094.2_Nonsense_Mutation_p.S1003*|MCF2L_ENST00000375601.3_Nonsense_Mutation_p.S1007*			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1033					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGGGCTGGTCAAGTGCAGAG	0.632000													7	16					0	0	0.001984	0	0
NRD1	4898	broad.mit.edu	37	1	52287187	52287187	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:52287187G>C	ENST00000354831.7	-	10	1593	c.1404C>G	c.(1402-1404)ttC>ttG	p.F468L	NRD1_ENST00000352171.7_Missense_Mutation_p.F400L|NRD1_ENST00000544028.1_Missense_Mutation_p.F268L|NRD1_ENST00000539524.1_Missense_Mutation_p.F336L|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	399					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GTATCTGAGAGAAGATTTCAG	0.373000													4	33					0	0	0.000602	0	0
VPS8	23355	broad.mit.edu	37	3	184567769	184567769	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:184567769A>G	ENST00000287546.4	+	9	883	c.712A>G	c.(712-714)Aca>Gca	p.T238A	VPS8_ENST00000436792.2_Missense_Mutation_p.T236A|VPS8_ENST00000446204.2_Missense_Mutation_p.T236A|VPS8_ENST00000437079.3_Missense_Mutation_p.T238A	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	238							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAGATCAATAACAGATGCTCA	0.313000													8	46					0	0	0.006214	0	0
ACSL5	51703	broad.mit.edu	37	10	114177625	114177625	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:114177625C>A	ENST00000393081.1	+	14	1547	c.1240C>A	c.(1240-1242)Cgt>Agt	p.R414S	RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000369410.3_Missense_Mutation_p.R196S|ACSL5_ENST00000433418.1_Missense_Mutation_p.R414S|ACSL5_ENST00000354655.4_Missense_Mutation_p.R414S|ACSL5_ENST00000356116.1_Missense_Mutation_p.R470S|ACSL5_ENST00000354273.4_Missense_Mutation_p.R414S	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	414					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R470C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGGAAGGGTTCGTGTAATTGT	0.473000													31	25					3.86903e-22	4.66268e-22	0.002836	1	0
TTN	7273	broad.mit.edu	37	2	179598082	179598082	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:179598082T>A	ENST00000589042.1	-	54	16162	c.15938A>T	c.(15937-15939)aAc>aTc	p.N5313I	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4069I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N4996I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4996	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAACATTGTTTTTAAAACT	0.463000													26	41					0	0	0.003330	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209191022	209191022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:209191022C>T	ENST00000264380.4	+	20	3645	c.3487C>T	c.(3487-3489)Cag>Tag	p.Q1163*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1163					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGAAGAATTCAGCCCAAAAA	0.478000													9	31					0	0	0.006214	0	0
MDFIC	29969	broad.mit.edu	37	7	114619638	114619638	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:114619638G>C	ENST00000257724.3	+	4	885	c.622G>C	c.(622-624)Ggc>Cgc	p.G208R	MDFIC_ENST00000393486.1_Missense_Mutation_p.G99R			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	99	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GATAAAGAACGGCCACACAGG	0.473000													16	20					0	0	0.004007	0	0
IL4R	3566	broad.mit.edu	37	16	27363876	27363876	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:27363876G>A	ENST00000395762.2	+	7	788	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	IL4R_ENST00000543915.2_Missense_Mutation_p.V177M|IL4R_ENST00000170630.2_Missense_Mutation_p.V177M|IL4R_ENST00000449195.1_Missense_Mutation_p.V177M|IL4R_ENST00000380922.3_Missense_Mutation_p.V162M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	177	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AATCTATAACGTGACCTACCT	0.592000													18	60					0	0	0.004990	0	0
DPM1	8813	broad.mit.edu	37	20	49562395	49562395	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:49562395G>A	ENST00000371582.4	-	4	392	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	DPM1_ENST00000371583.5_Missense_Mutation_p.L121F|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371588.5_Missense_Mutation_p.L121F			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	121					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TGGTGTGAGAGATCAGCATCC	0.323000													32	43					0	0	0.002836	0	0
FBXO32	114907	broad.mit.edu	37	8	124526525	124526525	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:124526525C>T	ENST00000517956.1	-	5	612	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	FBXO32_ENST00000443022.2_Intron	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	141										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTTTTGGGCGATGCCACTC	0.448000													4	31					0	0	0.000602	0	0
PLXND1	23129	broad.mit.edu	37	3	129293182	129293182	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:129293182G>A	ENST00000393239.1	-	12	2860	c.2682C>T	c.(2680-2682)caC>caT	p.H894H	PLXND1_ENST00000324093.4_Silent_p.H894H			Q9Y4D7	PLXD1_HUMAN	plexin D1	894	IPT/TIG 1.		H -> R (in dbSNP:rs2625962).		axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGCTTACCGCGTGGATCTCGG	0.701000													3	11					0	0	0.004672	0	0
DDX53	168400	broad.mit.edu	37	X	23018798	23018798	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:23018798G>C	ENST00000327968.5	+	1	712	c.624G>C	c.(622-624)ttG>ttC	p.L208F	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	208						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GTGATGACTTGAAAAGTGGTG	0.378000													15	14					0	0	0.004007	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953788	161953788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:161953788C>A	ENST00000294794.3	-	8	2353	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*	OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.E645*|OLFML2B_ENST00000367938.1_Nonsense_Mutation_p.E127*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	644	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACAATGACCTCCTGGCTGAAG	0.607000													38	8					2.35968e-33	2.88601e-33	0.005524	1	0
UHRF1	29128	broad.mit.edu	37	19	4960672	4960672	+	RNA	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:4960672G>A	ENST00000592666.1	+	0	2815							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TTACAGGACTGCCTGGACAGA	0.617000													6	18					0	0	0.001168	0	0
COMMD8	54951	broad.mit.edu	37	4	47458656	47458656	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:47458656G>C	ENST00000381571.4	-	3	380	c.313C>G	c.(313-315)Ctg>Gtg	p.L105V		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	105							protein binding			large_intestine(2)|lung(5)|prostate(1)	8						TCTCTTGACAGAGCCTGTTTG	0.328000													19	82					0	0	0.008871	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417901	150417901	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:150417901C>T	ENST00000307194.5	+	3	949	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCTGAAGTCCCCCAGGAGC	0.741000													5	4					0	0	0.000602	0	0
ZNF701	55762	broad.mit.edu	37	19	53086538	53086538	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53086538G>C	ENST00000540331.1	+	5	1649	c.1424G>C	c.(1423-1425)cGt>cCt	p.R475P	ZNF701_ENST00000391785.3_Missense_Mutation_p.R409P|ZNF701_ENST00000301093.2_Missense_Mutation_p.R475P|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GGAGAGAAACGTTACAAGTGT	0.373000													5	41					0	0	0.001984	0	0
TOMM40	10452	broad.mit.edu	37	19	45395690	45395690	+	Silent	SNP	C	C	A	rs142332544	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:45395690C>A	ENST00000592434.1	+	3	408	c.315C>A	c.(313-315)gtC>gtA	p.V105V	TOMM40_ENST00000252487.5_Silent_p.V105V|TOMM40_ENST00000426677.2_Silent_p.V105V|TOMM40_ENST00000405636.2_Silent_p.V105V			O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	105					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		AGCTCACAGTCAACAAAGGGT	0.552000													10	59					0.00010058	0.000108851	0.001368	1	0
XKR4	114786	broad.mit.edu	37	8	56436490	56436490	+	Missense_Mutation	SNP	C	C	T	rs145363139		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:56436490C>T	ENST00000327381.5	+	3	1757	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	553						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTCCAACAACCGCAGTGTTGT	0.587000													30	73					0	0	0.007291	0	0
CILP	8483	broad.mit.edu	37	15	65490630	65490630	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:65490630C>G	ENST00000261883.4	-	9	2160	c.1994G>C	c.(1993-1995)aGa>aCa	p.R665T		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	665					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GACCTCATCTCTGAAGTCCAC	0.512000													14	58					0	0	0.002450	0	0
ALG11	440138	broad.mit.edu	37	13	52586554	52586554	+	Translation_Start_Site	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:52586554G>A	ENST00000521508.1	+	0	5				ALG11_ENST00000523764.1_De_novo_Start_InFrame	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTCGGCGGAAGATGGCGGCCG	0.597000													11	23					0	0	0.001855	0	0
REN	5972	broad.mit.edu	37	1	204124947	204124947	+	Splice_Site	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:204124947C>A	ENST00000367195.2	-	8	1094		c.e8+1		REN_ENST00000272190.8_Splice_Site			P00797	RENI_HUMAN	renin						angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCGAACCTCACCTGAAATACA	0.532000													12	5					7.03913e-09	8.09746e-09	0.001368	1	0
CYP26A1	1592	broad.mit.edu	37	10	94835689	94835689	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:94835689A>G	ENST00000371531.1	+	5	1142	c.764A>G	c.(763-765)cAg>cGg	p.Q255R	CYP26A1_ENST00000224356.4_Missense_Mutation_p.Q324R|CYP26A1_ENST00000394139.1_Missense_Mutation_p.Q255R	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	324					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CATGTTCTCCAGAAAGTGCGA	0.512000													21	18					0	0	0.010504	0	0
EFCAB5	374786	broad.mit.edu	37	17	28296203	28296203	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:28296203G>A	ENST00000394835.3	+	4	777	c.585G>A	c.(583-585)aaG>aaA	p.K195K	EFCAB5_ENST00000320856.5_Silent_p.K195K|EFCAB5_ENST00000378738.3_Silent_p.K195K|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000394832.2_Silent_p.K195K|EFCAB5_ENST00000536908.2_Silent_p.K139K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	195							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGTAGAAAAGAAGAAGGTTT	0.343000													7	27					0	0	0.001984	0	0
ACIN1	22985	broad.mit.edu	37	14	23548865	23548865	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:23548865C>T	ENST00000262710.1	-	6	2180	c.1853G>A	c.(1852-1854)cGt>cAt	p.R618H	ACIN1_ENST00000605057.1_Missense_Mutation_p.R560H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R618H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R578H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	618	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCATGAGTACGTGCCTGGGC	0.522000													25	107					0	0	0.005443	0	0
GPR142	350383	broad.mit.edu	37	17	72367969	72367969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:72367969C>T	ENST00000335666.4	+	4	667	c.619C>T	c.(619-621)Cag>Tag	p.Q207*		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	207						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TATCATCATCCAGGTGGTCAT	0.657000													10	11					0	0	0.006214	0	0
HTR1A	3350	broad.mit.edu	37	5	63256935	63256935	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:63256935G>T	ENST00000323865.3	-	1	845	c.612C>A	c.(610-612)ttC>ttA	p.F204L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	204					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGGGATGTAGAAAGCTCCAA	0.582000													27	66					7.76418e-22	9.32269e-22	0.005443	1	0
EPPK1	83481	broad.mit.edu	37	8	144946383	144946383	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:144946383G>A	ENST00000525985.1	-	2	1110	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L				P58107	EPIPL_HUMAN	epiplakin 1	347						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCTGACCAGGCCCGCCCTG	0.682000													24	15					0	0	0.003330	0	0
PPFIA1	8500	broad.mit.edu	37	11	70176374	70176374	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:70176374C>G	ENST00000253925.7	+	8	1241	c.1026C>G	c.(1024-1026)ctC>ctG	p.L342L	PPFIA1_ENST00000389547.3_Silent_p.L342L|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	342					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGCATGACCTCAATGATAAAC	0.383000													12	296					0	0	0.001368	0	0
UTP20	27340	broad.mit.edu	37	12	101685601	101685601	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:101685601A>G	ENST00000261637.4	+	9	1147	c.973A>G	c.(973-975)Aca>Gca	p.T325A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	325					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTTGTTGGAAACATACCTTAT	0.383000													7	20					0	0	0.001984	0	0
BRD4	23476	broad.mit.edu	37	19	15349769	15349769	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:15349769G>A	ENST00000263377.2	-	19	4026	c.3805C>T	c.(3805-3807)Ctg>Ttg	p.L1269L		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1269					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCCTGCTCCAGCGCATCCTCG	0.701000			T	C15orf55	lethal midline carcinoma of young people								3	7					0	0	0.000602	0	0
ASPH	444	broad.mit.edu	37	8	62555450	62555450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:62555450G>A	ENST00000541428.1	-	10	860	c.700C>T	c.(700-702)Caa>Taa	p.Q234*	ASPH_ENST00000379454.4_Nonsense_Mutation_p.Q263*|ASPH_ENST00000522835.1_Nonsense_Mutation_p.Q206*|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000445642.3_Nonsense_Mutation_p.Q249*|ASPH_ENST00000517847.2_Nonsense_Mutation_p.Q249*|ASPH_ENST00000517903.1_Nonsense_Mutation_p.Q249*|ASPH_ENST00000522919.1_Nonsense_Mutation_p.Q76*|ASPH_ENST00000356457.5_Nonsense_Mutation_p.Q263*|ASPH_ENST00000518068.1_Nonsense_Mutation_p.Q220*	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	263	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCAAACCTTGTTCCTCATAG	0.328000													7	6					0	0	0.003080	0	0
NPAP1	23742	broad.mit.edu	37	15	24923896	24923896	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:24923896C>T	ENST00000329468.2	+	1	3356	c.2882C>T	c.(2881-2883)gCt>gTt	p.A961V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGTTAATGCTGAGCCAGTC	0.488000													3	63					0	0	0.004672	0	0
GLI1	2735	broad.mit.edu	37	12	57858517	57858517	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:57858517C>G	ENST00000228682.2	+	4	346	c.255C>G	c.(253-255)atC>atG	p.I85M	GLI1_ENST00000543426.1_5'UTR|GLI1_ENST00000546141.1_Missense_Mutation_p.I44M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	85					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACTGTCCATCTCACCTCTGT	0.587000													12	33					0	0	0.001855	0	0
ALCAM	214	broad.mit.edu	37	3	105258904	105258904	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:105258904G>A	ENST00000306107.5	+	7	1316	c.816G>A	c.(814-816)ggG>ggA	p.G272G	ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Silent_p.G272G|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Silent_p.G221G	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	272	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AATGCTTAGGGAATGGCAACC	0.398000													21	107					0	0	0.003954	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350494	65350494	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:65350494C>T	ENST00000309295.4	+	9	2616	c.2351C>T	c.(2350-2352)tCa>tTa	p.S784L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	784	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTAGGGATTCAGGGGTCCCA	0.542000													8	27					0	0	0.003080	0	0
DNM3	26052	broad.mit.edu	37	1	172376929	172376929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:172376929C>A	ENST00000358155.4	+	21	2716	c.2540C>A	c.(2539-2541)tCa>tAa	p.S847*	PIGC_ENST00000484368.1_Intron|DNM3_ENST00000367731.1_Nonsense_Mutation_p.S843*|DNM3_ENST00000355305.5_Nonsense_Mutation_p.S853*	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	853					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCACCCCCATCACCAACTCGT	0.433000													66	38					2.42712e-22	2.93575e-22	0.003610	1	0
COMMD10	51397	broad.mit.edu	37	5	115628170	115628170	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:115628170T>C	ENST00000274458.4	+	7	655	c.593T>C	c.(592-594)cTg>cCg	p.L198P	COMMD10_ENST00000515539.1_Missense_Mutation_p.L184P|COMMD10_ENST00000503424.1_3'UTR	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	198	COMM.						protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		CAAGCACAGCTGGATTCCCTT	0.373000													20	33					0	0	0.008871	0	0
MGAM	8972	broad.mit.edu	37	7	141767192	141767192	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:141767192C>T	ENST00000475668.2	+	42	5025	c.4971C>T	c.(4969-4971)ggC>ggT	p.G1657G	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1657	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGCTGGGCCCAGCCTTCC	0.597000													6	31					0	0	0.001984	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344584	69344584	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:69344584C>T	ENST00000305363.4	+	9	1049	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	329	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TCAAAATCATCTTCGACAAGC	0.343000													27	93					0	0	0.004656	0	0
DAK	26007	broad.mit.edu	37	11	61110820	61110820	+	Missense_Mutation	SNP	G	G	A	rs142716350	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:61110820G>A	ENST00000394900.3	+	11	1101	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	291	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCAGAGGGCCGCGGGGTGAAG	0.562000													22	61					0	0	0.002299	0	0
C15orf39	56905	broad.mit.edu	37	15	75501034	75501034	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:75501034G>A	ENST00000360639.2	+	2	2965	c.2645G>A	c.(2644-2646)cGg>cAg	p.R882Q	C15orf39_ENST00000567617.1_Missense_Mutation_p.R882Q|C15orf39_ENST00000394987.4_Missense_Mutation_p.R882Q			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	882										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TCGGAGGAGCGGGCACTGCGG	0.672000													5	9					0	0	0.000602	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149785127	149785127	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:149785127T>A	ENST00000331491.1	-	1	109	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	37					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GTGCGGCTTCTTCACCCCGCC	0.697000													5	23					0	0	0.001984	0	0
OR5F1	338674	broad.mit.edu	37	11	55761812	55761812	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:55761812C>A	ENST00000278409.1	-	1	289	c.290G>T	c.(289-291)tGc>tTc	p.C97F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97F(1)		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)					CTGTAGGAAGCAGCCAGCAAA	0.473000													23	67					1.42536e-11	1.67479e-11	0.004656	1	0
CSMD1	64478	broad.mit.edu	37	8	2886928	2886928	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:2886928G>T	ENST00000520002.1	-	52	8326	c.7771C>A	c.(7771-7773)Cct>Act	p.P2591T	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591T|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590T|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591T|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590T|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2591T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2591	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAGTAACCAGGACTGCAGCTC	0.532000													6	12					0.00198382	0.00209864	0.001984	1	0
IQGAP3	128239	broad.mit.edu	37	1	156504953	156504953	+	Splice_Site	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:156504953G>T	ENST00000361170.2	-	28	3518		c.e28+1			NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACAACACTTGCCTTATAGAC	0.507000													27	108					5.09552e-08	5.82092e-08	0.010818	1	0
ING3	54556	broad.mit.edu	37	7	120590962	120590962	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:120590962A>G	ENST00000315870.5	+	1	160	c.12A>G	c.(10-12)ctA>ctG	p.L4L	ING3_ENST00000445699.1_Silent_p.L4L|ING3_ENST00000339121.5_Silent_p.L4L	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	4					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TGTTGTACCTAGAAGACTATC	0.632000													25	74					0	0	0.006320	0	0
GCNT2	2651	broad.mit.edu	37	6	10557098	10557098	+	Missense_Mutation	SNP	G	G	A	rs56336237		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:10557098G>A	ENST00000316170.3	+	1	859	c.442G>A	c.(442-444)Gct>Act	p.A148T	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	150						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTTCCCAAACGCTTTTCTGGC	0.453000													19	65					0	0	0.007413	0	0
PLCB1	23236	broad.mit.edu	37	20	8639216	8639216	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:8639216G>T	ENST00000378641.3	+	9	1202	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	PLCB1_ENST00000338037.6_Missense_Mutation_p.D243Y|PLCB1_ENST00000378637.2_Missense_Mutation_p.D243Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	243					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCTTACCGTTGATCAGATGAT	0.318000													13	52					1.49906e-05	1.63308e-05	0.002450	1	0
BNC1	646	broad.mit.edu	37	15	83926268	83926268	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:83926268G>A	ENST00000345382.2	-	5	2996	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R964C	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	971					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTTCGACTGCGAACAGACGAA	0.507000													59	45					0	0	0.003610	0	0
AHCTF1	25909	broad.mit.edu	37	1	247024567	247024567	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:247024567T>C	ENST00000366508.1	-	29	4007	c.3871A>G	c.(3871-3873)Act>Gct	p.T1291A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.T1256A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T1265A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1256	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTAGGTGTAGTAAATACTTCT	0.363000													9	5					0	0	0.008291	0	0
CACHD1	57685	broad.mit.edu	37	1	64936610	64936610	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:64936610G>A	ENST00000371073.2	+	1	183	c.183G>A	c.(181-183)ggG>ggA	p.G61G	CACHD1_ENST00000290039.5_Silent_p.G10G			Q5VU97	CAHD1_HUMAN	cache domain containing 1	61					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGGAGCTGGGGGTCGTCACCA	0.672000													10	10					0	0	0.001855	0	0
HPDL	84842	broad.mit.edu	37	1	45793381	45793381	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:45793381C>T	ENST00000334815.3	+	1	837	c.561C>T	c.(559-561)tgC>tgT	p.C187C		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	187					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGGGCTTTTGCCACTTGCCGC	0.672000													3	35					0	0	0.004672	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1889776	1889776	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:1889776C>T	ENST00000357103.4	+	5	874	c.623C>T	c.(622-624)tCa>tTa	p.S208L		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	208					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TACTGCCACTCAGAGGGGGTC	0.458000													28	176					0	0	0.012213	0	0
KDM2A	22992	broad.mit.edu	37	11	66888812	66888812	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:66888812C>T	ENST00000529006.2	+	2	471	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	KDM2A_ENST00000398645.2_Missense_Mutation_p.R9C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGAAAGGATTCGTTACAGCCA	0.423000													8	23					0	0	0.004482	0	0
C17orf97	400566	broad.mit.edu	37	17	263646	263646	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:263646G>A	ENST00000360127.6	+	2	1028	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	368	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CTTCCACCCCGACCCCGAGGC	0.692000													4	40					0	0	0.001984	0	0
CEP85L	387119	broad.mit.edu	37	6	118887420	118887420	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:118887420G>A	ENST00000368491.3	-	3	913	c.292C>T	c.(292-294)Cct>Tct	p.P98S	CEP85L_ENST00000419517.2_Missense_Mutation_p.P98S|CEP85L_ENST00000368488.5_Missense_Mutation_p.P101S|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000392500.3_Missense_Mutation_p.P101S|CEP85L_ENST00000360290.3_5'UTR	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	98						centrosome											TGGGCAGTAGGAAGAGTAATC	0.388000													3	26					0	0	0.004672	0	0
KALRN	8997	broad.mit.edu	37	3	124413262	124413262	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:124413262C>T	ENST00000360013.3	+	53	7616	c.7489C>T	c.(7489-7491)Cgg>Tgg	p.R2497W	KALRN_ENST00000428018.2_Missense_Mutation_p.R768W|KALRN_ENST00000291478.4_Missense_Mutation_p.R800W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2496	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTCTGTGGGCGGCCAAAGCC	0.527000													42	58					0	0	0.007835	0	0
DMBT1	1755	broad.mit.edu	37	10	124336113	124336113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:124336113C>A	ENST00000368909.3	+	7	588	c.482C>A	c.(481-483)tCa>tAa	p.S161*	DMBT1_ENST00000368956.2_Nonsense_Mutation_p.S161*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000338354.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.S161*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.S161*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.S161*	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	161	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCCAGGGCTCAGGACCCATT	0.592000													35	92					1.99505e-19	2.37816e-19	0.012213	1	0
ZC3H13	23091	broad.mit.edu	37	13	46563012	46563012	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:46563012G>C	ENST00000242848.4	-	9	1513	c.1165C>G	c.(1165-1167)Cca>Gca	p.P389A	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P389A			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	389	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGATGTCTTGGAGGACTCTGC	0.493000													7	23					0	0	0.001984	0	0
SYNE2	23224	broad.mit.edu	37	14	64595183	64595183	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64595183G>A	ENST00000357395.3	+	75	14230	c.3086G>A	c.(3085-3087)aGa>aAa	p.R1029K	SYNE2_ENST00000344113.4_Missense_Mutation_p.R4644K|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1029K|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1278K|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.R4644K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4644					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAATAAAGAGATTATATCAT	0.318000													7	47					0	0	0.003080	0	0
IL16	3603	broad.mit.edu	37	15	81575048	81575048	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:81575048G>A	ENST00000394660.2	+	9	1510	c.1150G>A	c.(1150-1152)Gtc>Atc	p.V384I	IL16_ENST00000302987.4_Missense_Mutation_p.V384I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	384	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.V384I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCATTTTCGTCCACACGCT	0.597000													34	123					0	0	0.004289	0	0
STXBP6	29091	broad.mit.edu	37	14	25288333	25288333	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:25288333C>G	ENST00000323944.5	-	5	970	c.519G>C	c.(517-519)ttG>ttC	p.L173F	STXBP6_ENST00000419632.2_Missense_Mutation_p.L173F|STXBP6_ENST00000548724.1_Missense_Mutation_p.L173F|STXBP6_ENST00000550887.1_Missense_Mutation_p.L173F|STXBP6_ENST00000546511.1_Missense_Mutation_p.L173F|STXBP6_ENST00000548369.1_Missense_Mutation_p.L71F|STXBP6_ENST00000396700.1_Missense_Mutation_p.L173F|STXBP6_ENST00000358326.2_Missense_Mutation_p.L173F			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	173	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CACGCTCATTCAAGGCCTGGC	0.562000													5	88					0	0	0.001168	0	0
OR4C46	119749	broad.mit.edu	37	11	51515583	51515583	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:51515583G>A	ENST00000328188.1	+	1	302	c.302G>A	c.(301-303)gGa>gAa	p.G101E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CAAGTCTTTGGAGAACATTTC	0.463000													21	69					0	0	0.012319	0	0
UNC93A	54346	broad.mit.edu	37	6	167728907	167728907	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:167728907G>A	ENST00000230256.3	+	8	1516	c.1341G>A	c.(1339-1341)caG>caA	p.Q447Q	UNC93A_ENST00000366829.2_Silent_p.Q405Q	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	447						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGTCAACCAGGCAGAGGATG	0.532000													38	61					0	0	0.007835	0	0
ANLN	54443	broad.mit.edu	37	7	36459826	36459826	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:36459826G>C	ENST00000265748.2	+	11	2139	c.1918G>C	c.(1918-1920)Gat>Cat	p.D640H	ANLN_ENST00000396068.2_Missense_Mutation_p.D603H	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	640	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGCAGAAGTGATGAAAGTCC	0.403000													7	57					0	0	0.001984	0	0
SEL1L2	80343	broad.mit.edu	37	20	13839917	13839917	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:13839917G>A	ENST00000284951.5	-	18	1883	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	603						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCTTTGTGATGCCTAAGCCGT	0.393000													11	12					0	0	0.010729	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209191008	209191008	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:209191008G>T	ENST00000264380.4	+	20	3631	c.3473G>T	c.(3472-3474)aGa>aTa	p.R1158I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1158					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATCGAGCCAGAGGAGGAAGA	0.463000													8	31					0.00307968	0.00324748	0.003080	1	0
PEX5L	51555	broad.mit.edu	37	3	179525537	179525537	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:179525537G>T	ENST00000467460.1	-	14	1931	c.1601C>A	c.(1600-1602)gCa>gAa	p.A534E	PEX5L_ENST00000485199.1_Missense_Mutation_p.A499E|PEX5L_ENST00000472994.1_Missense_Mutation_p.A475E|PEX5L_ENST00000468741.1_Missense_Mutation_p.A342E|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A510E|PEX5L_ENST00000476138.1_Missense_Mutation_p.A491E|PEX5L_ENST00000464614.1_Missense_Mutation_p.A426E|PEX5L_ENST00000392649.3_Missense_Mutation_p.A426E|PEX5L_ENST00000263962.8_Missense_Mutation_p.A532E	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	534					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AATCTCCAGTGCTCGCGTATA	0.552000													63	108					7.82978e-24	9.50553e-24	0.003610	1	0
TRBV6-6	28601	broad.mit.edu	37	7	142161958	142161958	+	RNA	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:142161958G>C	ENST00000390371.3	-	0	360																											GAAGTACACAGATGTCTGGGA	0.547000													31	211					0	0	0.004289	0	0
LCMT1	51451	broad.mit.edu	37	16	25175987	25175987	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:25175987T>A	ENST00000399069.3	+	7	793	c.638T>A	c.(637-639)cTg>cAg	p.L213Q	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.L158Q	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	213							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GCAAACCTCCTGAAGTGGGCA	0.448000													9	44					0	0	0.008291	0	0
CCDC170	80129	broad.mit.edu	37	6	151859372	151859372	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:151859372C>T	ENST00000367290.5	+	3	468	c.379C>T	c.(379-381)Cac>Tac	p.H127Y	CCDC170_ENST00000239374.7_Missense_Mutation_p.H127Y|CCDC170_ENST00000544131.1_3'UTR			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	127																	AATCACAGCTCACGCTGCAAT	0.363000													10	29					0	0	0.008291	0	0
GABRB2	2561	broad.mit.edu	37	5	160758096	160758096	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:160758096G>T	ENST00000274547.2	-	9	1088	c.871C>A	c.(871-873)Cac>Aac	p.H291N	GABRB2_ENST00000520240.1_Missense_Mutation_p.H291N|GABRB2_ENST00000517547.1_Missense_Mutation_p.H131N|GABRB2_ENST00000393959.1_Missense_Mutation_p.H291N|GABRB2_ENST00000353437.6_Missense_Mutation_p.H291N|GABRB2_ENST00000517901.1_Missense_Mutation_p.H228N	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	291					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCCGGAGGTGGGTGTTGATT	0.423000													14	61					1.05317e-09	1.21577e-09	0.002450	1	0
LPIN1	23175	broad.mit.edu	37	2	11911611	11911611	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:11911611C>T	ENST00000256720.2	+	4	495	c.402C>T	c.(400-402)agC>agT	p.S134S	LPIN1_ENST00000396098.1_Silent_p.S140S|LPIN1_ENST00000449576.2_Silent_p.S183S|LPIN1_ENST00000425416.2_Silent_p.S140S|LPIN1_ENST00000396099.1_Silent_p.S140S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	134					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGGACCCCAGCACGCCAGCCC	0.572000													3	24					0	0	0.004672	0	0
PRRX2	51450	broad.mit.edu	37	9	132481518	132481518	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:132481518C>T	ENST00000372469.4	+	2	495	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	90				P -> S (in Ref. 5; AAB39864).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGGTGAGTGTCCCAGCCCGGG	0.657000													6	3					0	0	0.001984	0	0
TGS1	96764	broad.mit.edu	37	8	56717593	56717593	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:56717593G>C	ENST00000260129.5	+	10	2618	c.2141G>C	c.(2140-2142)aGa>aCa	p.R714T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	714	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ACAGGAATGAGAGGTAATTAG	0.378000													15	73					0	0	0.003163	0	0
PAK6	56924	broad.mit.edu	37	15	40568201	40568201	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:40568201A>T	ENST00000455577.2	+	10	2729	c.1817A>T	c.(1816-1818)gAg>gTg	p.E606V	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.E651V|PAK6_ENST00000260404.4_Missense_Mutation_p.E651V|PAK6_ENST00000441369.1_Missense_Mutation_p.E651V|PAK6_ENST00000542403.2_Missense_Mutation_p.E651V|PAK6_ENST00000453867.1_Missense_Mutation_p.E651V	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	651	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ACAGCCCAGGAGCTCCTAGAC	0.627000													17	57					0	0	0.004007	0	0
IQCK	124152	broad.mit.edu	37	16	19838428	19838428	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:19838428C>T	ENST00000541926.1	+	7	708	c.686C>T	c.(685-687)tCa>tTa	p.229_229insL	IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Silent_p.V257V|IQCK_ENST00000320394.6_Silent_p.V257V|IQCK_ENST00000433597.2_Silent_p.V169V			Q8N0W5	IQCK_HUMAN	IQ motif containing K	0										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						ACCAGCAAGTCAAAATTTTCT	0.443000													7	40					0	0	0.001984	0	0
NUAK2	81788	broad.mit.edu	37	1	205272902	205272902	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:205272902G>A	ENST00000367157.3	-	7	1689	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	521					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCAGGGAGCCGAAGGTGGTGG	0.647000													7	41					0	0	0.003080	0	0
BVES	11149	broad.mit.edu	37	6	105573428	105573428	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:105573428C>G	ENST00000314641.5	-	4	593	c.377G>C	c.(376-378)gGc>gCc	p.G126A	BVES_ENST00000446408.2_Missense_Mutation_p.G126A|BVES_ENST00000336775.5_Missense_Mutation_p.G126A	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	126					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CCGGTACATGCCACTGAGTTC	0.438000													13	67					0	0	0.002450	0	0
LTBP3	4054	broad.mit.edu	37	11	65308358	65308358	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:65308358G>A	ENST00000301873.5	-	21	3229	c.2961C>T	c.(2959-2961)ggC>ggT	p.G987G	LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Silent_p.G987G|LTBP3_ENST00000536982.1_Silent_p.G613G|LTBP3_ENST00000532932.1_Silent_p.G417G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	987						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GGGCTGGGATGCCGTAGTTGA	0.706000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	0.000602	0	0
NUAK1	9891	broad.mit.edu	37	12	106461427	106461427	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:106461427G>A	ENST00000261402.2	-	7	2518	c.1139C>T	c.(1138-1140)tCt>tTt	p.S380F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	380							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ATCCTGACCAGACTGAGCAAA	0.542000													26	65					0	0	0.005443	0	0
NLRP7	199713	broad.mit.edu	37	19	55447788	55447788	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:55447788A>G	ENST00000588756.1	-	8	2627	c.2141T>C	c.(2140-2142)gTc>gCc	p.V714A	NLRP7_ENST00000340844.2_Missense_Mutation_p.V714A|NLRP7_ENST00000592784.1_Missense_Mutation_p.V714A|NLRP7_ENST00000590030.1_Missense_Mutation_p.V714A|NLRP7_ENST00000446217.1_Missense_Mutation_p.V742A|NLRP7_ENST00000328092.5_Missense_Mutation_p.V686A|NLRP7_ENST00000448121.2_Missense_Mutation_p.V686A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	714							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTCAGGGGTGACGTTTTTAAT	0.483000													6	14					0	0	0.001168	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967773	58967773	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:58967773C>T	ENST00000391696.1	+	3	2364	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R488C|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R488C			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGTGTGGCCGCGCCTTCCG	0.662000													7	43					0	0	0.003080	0	0
TONSL	4796	broad.mit.edu	37	8	145662239	145662239	+	Silent	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145662239T>C	ENST00000409379.3	-	15	1820	c.1791A>G	c.(1789-1791)gaA>gaG	p.E597E	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	597					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGTGATGCCTTCGCAGCCCT	0.657000													46	54					0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54420765	54420765	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:54420765A>T	ENST00000474759.1	+	4	393	c.345A>T	c.(343-345)gaA>gaT	p.E115D	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E115D|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E21D|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E115D	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	115						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGCAGAAGAAGCACACCTGA	0.393000													4	0					0	0	0.009096	0	0
FAM83C	128876	broad.mit.edu	37	20	33876280	33876280	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:33876280C>A	ENST00000374408.3	-	3	886	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	264										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGCCCGCCACCACTTGCTCA	0.632000													6	56					0.000157383	0.000168114	0.003080	1	0
FLG	2312	broad.mit.edu	37	1	152276145	152276145	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:152276145G>A	ENST00000368799.1	-	3	11252	c.11217C>T	c.(11215-11217)caC>caT	p.H3739H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3739	Ser-rich.		H -> Y (in dbSNP:rs7512553).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H3739H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGCTCGTGGCGGGATC	0.602000									Ichthyosis				16	363					0	0	0.003954	0	0
ABCC9	10060	broad.mit.edu	37	12	21998702	21998702	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:21998702C>T	ENST00000261200.4	-	24	2930	c.2931G>A	c.(2929-2931)atG>atA	p.M977I	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.M941I|ABCC9_ENST00000261201.4_Missense_Mutation_p.M977I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	977					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTTCCATGGCATTTTAGTCC	0.423000													9	46					0	0	0.004482	0	0
MLC1	23209	broad.mit.edu	37	22	50500013	50500013	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:50500013C>T	ENST00000311597.5	-	12	1739	c.1133G>A	c.(1132-1134)tGa>tAa	p.*378*	MLC1_ENST00000395876.2_Silent_p.*378*|MLC1_ENST00000450140.2_Silent_p.*326*|MLC1_ENST00000431262.2_Silent_p.*348*|MLC1_ENST00000535444.1_Silent_p.*299*|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Silent_p.*344*	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	0						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTCTGGGGGTCACTGGGCCAT	0.607000													10	37					0	0	0.008291	0	0
APH1A	51107	broad.mit.edu	37	1	150241157	150241157	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:150241157G>A	ENST00000360244.4	-	1	546	c.54C>T	c.(52-54)ttC>ttT	p.F18F	APH1A_ENST00000461320.1_5'UTR|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000369109.3_Silent_p.F18F|APH1A_ENST00000414276.2_Silent_p.F18F	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	18					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAAAGCGCGAAGGCCGGGC	0.652000													4	8					0	0	0.001168	0	0
RASA4B	100271927	broad.mit.edu	37	7	102136626	102136626	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:102136626G>T	ENST00000481893.1	-	16	1940	c.816C>A	c.(814-816)agC>agA	p.S272R	RASA4B_ENST00000541662.1_Missense_Mutation_p.S344R|RASA4B_ENST00000465829.1_Missense_Mutation_p.S344R|RASA4B_ENST00000306682.6_Missense_Mutation_p.S272R					RAS p21 protein activator 4B											skin(1)	1						CCAGAGAGTTGCTCCGGAACA	0.542000													17	121					5.35356e-11	6.24582e-11	0.002780	1	0
TET2	54790	broad.mit.edu	37	4	106157411	106157411	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:106157411G>A	ENST00000513237.1	+	3	3172	c.2375G>A	c.(2374-2376)aGa>aAa	p.R792K	TET2_ENST00000305737.2_Missense_Mutation_p.R771K|TET2_ENST00000545826.1_Missense_Mutation_p.R771K|TET2_ENST00000413648.2_Missense_Mutation_p.R771K|TET2_ENST00000380013.4_Missense_Mutation_p.R771K|TET2_ENST00000394764.1_Missense_Mutation_p.R771K|TET2_ENST00000540549.1_Missense_Mutation_p.R771K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	771	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GATCAGCAAAGAGAAGGATCA	0.383000			"""Mis N, F"""		MDS								3	44					0	0	0.009096	0	0
FCGR2A	2212	broad.mit.edu	37	1	161487824	161487824	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:161487824C>T	ENST00000271450.6	+	7	878	c.840C>T	c.(838-840)gaC>gaT	p.D280D	FCGR2A_ENST00000461298.1_Silent_p.D15D|FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.D279D	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	280						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACAATGACTATGAAACAG	0.448000													28	15					0	0	0.009535	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17122958	17122958	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:17122958G>A	ENST00000265970.7	-	24	3874	c.3875C>T	c.(3874-3876)aCc>aTc	p.T1292I	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.T912I|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1292	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CATATCAGAGGTCAGCACAAA	0.373000													7	32					0	0	0.003080	0	0
LINC00922	283867	broad.mit.edu	37	16	65397170	65397170	+	RNA	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:65397170G>C	ENST00000569736.1	-	0	510				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						ATGGTAAAAAGACCTTCCTCT	0.413000													10	22					0	0	0.010729	0	0
MBD5	55777	broad.mit.edu	37	2	149247498	149247498	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:149247498G>A	ENST00000407073.1	+	12	4595	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K	MBD5_ENST00000404807.1_Missense_Mutation_p.E1433K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1200						chromosome|nucleus	chromatin binding|DNA binding	p.E1200*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGGGACGGGGAGCAAAGCCC	0.473000													5	81					0	0	0.001168	0	0
AGO1	26523	broad.mit.edu	37	1	36379463	36379463	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:36379463G>A	ENST00000373204.4	+	13	1816	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	AGO1_ENST00000373206.1_Missense_Mutation_p.D460N	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		ACGTGTCGGAGATACACTCTT	0.478000													11	72					0	0	0.001368	0	0
MROH9	80133	broad.mit.edu	37	1	170967299	170967299	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:170967299C>G	ENST00000367759.4	+	15	1634	c.1480C>G	c.(1480-1482)Ctc>Gtc	p.L494V	MROH9_ENST00000367758.3_Missense_Mutation_p.L494V	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TTACAGAACTCTCAGTGAATA	0.398000													37	32					0	0	0.004289	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143226	48143226	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:48143226C>T	ENST00000405493.2	-	10	1071	c.862G>A	c.(862-864)Gac>Aac	p.D288N	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.D330N|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.D330N|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D288N|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D288N|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D330N|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.D288N	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	288					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGACAGTTGTCTTCTCGCAGG	0.582000													6	50					0	0	0.001984	0	0
SSH2	85464	broad.mit.edu	37	17	27963169	27963169	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:27963169G>A	ENST00000269033.3	-	14	2149	c.1998C>T	c.(1996-1998)acC>acT	p.T666T	SSH2_ENST00000540801.1_Silent_p.T693T|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	666					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCGTGACCGGGTTTCTTGGG	0.493000													42	54					0	0	0.006999	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998727	120998727	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:120998727C>T	ENST00000273666.6	+	19	2305	c.2034C>T	c.(2032-2034)acC>acT	p.T678T	STXBP5L_ENST00000492541.1_Silent_p.T678T|STXBP5L_ENST00000497029.1_Silent_p.T678T|STXBP5L_ENST00000471454.1_Silent_p.T678T|STXBP5L_ENST00000472879.1_Silent_p.T678T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	678					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCATGGGGACCATTGACCTAT	0.398000													42	55					0	0	0.007835	0	0
HUS1	3364	broad.mit.edu	37	7	48007409	48007409	+	Missense_Mutation	SNP	A	A	C	rs79656108		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:48007409A>C	ENST00000258774.5	-	7	777	c.754T>G	c.(754-756)Tta>Gta	p.L252V	HUS1_ENST00000432325.1_Missense_Mutation_p.L231V	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	252					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TCACTGCATAAGGCCTTTGTG	0.388000								Direct reversal of damage;Other conserved DNA damage response genes					23	40					0	0	0.004656	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847379	28847379	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:28847379G>A	ENST00000336783.4	+	22	3188	c.3021G>A	c.(3019-3021)caG>caA	p.Q1007Q	ATXN2L_ENST00000325215.6_Silent_p.Q1007Q|ATXN2L_ENST00000570200.1_Silent_p.Q1007Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Silent_p.Q1007Q|ATXN2L_ENST00000564304.1_Silent_p.Q1013Q|ATXN2L_ENST00000382686.4_Silent_p.Q1007Q|ATXN2L_ENST00000395547.2_Silent_p.Q1007Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1007						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGGTGCCCCAGAGTGGGGTGC	0.706000													23	91					0	0	0.012319	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								6	33					0	0	0.001984	0	0
ALYREF	10189	broad.mit.edu	37	17	79846187	79846187	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:79846187G>A	ENST00000331204.4	-	5	715	c.689C>T	c.(688-690)gCc>gTc	p.A230V	ALYREF_ENST00000505490.2_Missense_Mutation_p.A237V	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	230	Ala/Arg/Gly-rich.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										ATTCCTGCCGGCACCTCTGCC	0.647000													16	14					0	0	0.004007	0	0
CEP44	80817	broad.mit.edu	37	4	175229984	175229984	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:175229984G>A	ENST00000503780.1	+	7	1066	c.652G>A	c.(652-654)Gtt>Att	p.V218I	CEP44_ENST00000296519.4_Missense_Mutation_p.V218I|CEP44_ENST00000457424.2_Missense_Mutation_p.V218I|CEP44_ENST00000426172.1_Missense_Mutation_p.V218I	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	218						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TGAAGTAAAGGTTCCTGAAAT	0.328000													4	27					0	0	0.009096	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022757	131022757	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:131022757C>G	ENST00000421699.2	-	17	1676	c.1664G>C	c.(1663-1665)gGa>gCa	p.G555A		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	555						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTTTACAAATCCGCTCTGCAG	0.612000													12	57					0	0	0.010729	0	0
TSSK2	23617	broad.mit.edu	37	22	19118919	19118919	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:19118919G>A	ENST00000399635.2	+	1	599	c.7G>A	c.(7-9)Gat>Aat	p.D3N	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	3					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CACCATGGACGATGCCACAGT	0.562000													6	13					0	0	0.001984	0	0
TOX3	27324	broad.mit.edu	37	16	52473778	52473778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:52473778G>A	ENST00000219746.9	-	7	1374	c.1090C>T	c.(1090-1092)Caa>Taa	p.Q364*	TOX3_ENST00000407228.3_Nonsense_Mutation_p.Q359*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	364					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTTCCATGTTGAGACAGTGGA	0.527000													12	75					0	0	0.010729	0	0
ZNF251	90987	broad.mit.edu	37	8	145948557	145948557	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145948557C>G	ENST00000292562.7	-	5	763	c.488G>C	c.(487-489)aGa>aCa	p.R163T	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGTTAAAACTCTCTTGTGAAT	0.478000													26	87					0	0	0.003954	0	0
AMY2B	280	broad.mit.edu	37	1	104115729	104115729	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:104115729T>A	ENST00000361355.4	+	5	976	c.360T>A	c.(358-360)aaT>aaA	p.N120K	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	120					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGTCTGGTAATGCTGTGAGTG	0.408000													139	141					0	0	0.003610	0	0
ENY2	56943	broad.mit.edu	37	8	110355642	110355642	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:110355642C>T	ENST00000521688.1	+	5	383	c.238C>T	c.(238-240)Cct>Tct	p.P80S	ENY2_ENST00000522407.1_3'UTR|ENY2_ENST00000520147.1_3'UTR|ENY2_ENST00000521662.1_Missense_Mutation_p.P75S	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	80					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			AGCCCTGGTACCTGACAGTGT	0.343000													49	53					0	0	0.003610	0	0
MARCH11	441061	broad.mit.edu	37	5	16177895	16177895	+	Silent	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:16177895G>T	ENST00000332432.8	-	2	832	c.633C>A	c.(631-633)acC>acA	p.T211T	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	211						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AAAGTTCACAGGTCCAGGAAC	0.408000													7	42					2.0095e-06	2.22601e-06	0.001984	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106097447	106097447	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:106097447A>G	ENST00000357242.5	+	14	2447	c.2273A>G	c.(2272-2274)tAt>tGt	p.Y758C	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y752C	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	758						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATATTCGCTATGAAGATATA	0.353000													25	6					0	0	0.005443	0	0
COL6A6	131873	broad.mit.edu	37	3	130289961	130289961	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:130289961G>A	ENST00000358511.6	+	6	2732	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E901K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	901	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CATGTTCACTGAAGCCCGGGG	0.532000													10	18					0	0	0.006214	0	0
CLCN7	1186	broad.mit.edu	37	16	1498432	1498432	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:1498432A>T	ENST00000382745.4	-	21	2542	c.1937T>A	c.(1936-1938)gTc>gAc	p.V646D	CLCN7_ENST00000448525.1_Missense_Mutation_p.V622D|CLCN7_ENST00000262318.8_Missense_Mutation_p.V622D	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	646	CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTCCACAATGACGCCGACCTT	0.652000													12	24					0	0	0.001368	0	0
TMTC1	83857	broad.mit.edu	37	12	29689237	29689237	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:29689237T>G	ENST00000256062.5	-	11	1839	c.1366A>C	c.(1366-1368)Aag>Cag	p.K456Q	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.K518Q|TMTC1_ENST00000552618.1_Missense_Mutation_p.K588Q|TMTC1_ENST00000551659.1_Missense_Mutation_p.K626Q|TMTC1_ENST00000539277.1_Missense_Mutation_p.K564Q	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	564						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCTTCTTCCTTTTTCTCCTGG	0.378000													38	52					0	0	0.005524	0	0
CCDC181	57821	broad.mit.edu	37	1	169364286	169364286	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:169364286C>T	ENST00000545005.1	-	7	2033	c.1526G>A	c.(1525-1527)tGa>tAa	p.*509*	CCDC181_ENST00000367806.3_Silent_p.*510*|CCDC181_ENST00000367805.3_Silent_p.*509*|BLZF1_ENST00000329281.2_Intron					coiled-coil domain containing 181																		TAGAAACTTTCAGTTATAATG	0.348000													15	25					0	0	0.004990	0	0
TAB2	23118	broad.mit.edu	37	6	149700391	149700391	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:149700391C>T	ENST00000367456.1	+	4	1917	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	TAB2_ENST00000538427.1_Missense_Mutation_p.S447F|TAB2_ENST00000286332.5_Missense_Mutation_p.S447F|TAB2_ENST00000392282.1_Missense_Mutation_p.S447F|TAB2_ENST00000536230.1_Missense_Mutation_p.S415F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	447					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GGCAATAACTCTGCAACCTCT	0.502000													22	60					0	0	0.012319	0	0
C6	729	broad.mit.edu	37	5	41153999	41153999	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:41153999C>T	ENST00000263413.3	-	15	2467	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	C6_ENST00000337836.5_Missense_Mutation_p.G735S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	735	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACAACAAAGCCTTTGGGGCAA	0.473000													12	45					0	0	0.010729	0	0
C17orf53	78995	broad.mit.edu	37	17	42228331	42228331	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:42228331G>A	ENST00000319977.4	+	4	1464	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	C17orf53_ENST00000585683.1_Silent_p.Q409Q|C17orf53_ENST00000245382.6_Intron	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	409										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTCTTAGCAGAGTGGGAGAA	0.453000													3	20					0	0	0.004672	0	0
NASP	4678	broad.mit.edu	37	1	46073825	46073825	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:46073825C>G	ENST00000350030.3	+	6	1329	c.1242C>G	c.(1240-1242)gtC>gtG	p.V414V	NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Silent_p.V416V|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Silent_p.V350V	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	414	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGGAGAAGGTCAGGGCAAAGC	0.493000													11	46					0	0	0.008291	0	0
SCARB2	950	broad.mit.edu	37	4	77116980	77116980	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:77116980G>A	ENST00000264896.2	-	2	504	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SCARB2_ENST00000452464.2_Missense_Mutation_p.S52F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	52					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTTCTCCCAGGAGTCAAATGC	0.438000													25	35					0	0	0.004656	0	0
TACR3	6870	broad.mit.edu	37	4	104640669	104640669	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:104640669G>A	ENST00000304883.2	-	1	304	c.164C>T	c.(163-165)cCt>cTt	p.P55L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	55						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGCGCGGAAGGGGAGGAGGA	0.697000													7	36					0	0	0.001984	0	0
BCL9	607	broad.mit.edu	37	1	147091317	147091317	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:147091317C>T	ENST00000234739.3	+	8	2096	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	452	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTATGAACTCCCAGTCTGGGA	0.532000			T	"""IGH@, IGL@"""	B-ALL								12	55					0	0	0.010729	0	0
FAM193B	54540	broad.mit.edu	37	5	176951848	176951848	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:176951848T>A	ENST00000329540.5	-	9	3341	c.512A>T	c.(511-513)cAc>cTc	p.H171L	FAM193B_ENST00000514747.1_Missense_Mutation_p.H545L|FAM193B_ENST00000443375.2_Missense_Mutation_p.H512L			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	221										kidney(1)|large_intestine(3)	4						TTGTAACGTGTGGTTCTGAGG	0.617000													7	2					0	0	0.001984	0	0
RYR3	6263	broad.mit.edu	37	15	33927944	33927944	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:33927944G>A	ENST00000389232.4	+	26	3375	c.3305G>A	c.(3304-3306)gGc>gAc	p.G1102D	RYR3_ENST00000415757.3_Missense_Mutation_p.G1102D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1102	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGCGAGTCGGCTGGGCGAGG	0.507000													7	14					0	0	0.001984	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													3	54					0	0	0.004672	0	0
CCNG2	901	broad.mit.edu	37	4	78081922	78081922	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:78081922G>T	ENST00000316355.5	+	4	681	c.325G>T	c.(325-327)Gct>Tct	p.A109S	CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.A109S|CCNG2_ENST00000354403.5_Missense_Mutation_p.A109S|CCNG2_ENST00000509972.1_Missense_Mutation_p.A109S|CCNG2_ENST00000502280.1_Missense_Mutation_p.A109S	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	109					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTTTGCTGGCTGCTAGAAT	0.388000													41	78					9.39024e-22	1.12341e-21	0.009718	1	0
FGF10	2255	broad.mit.edu	37	5	44305279	44305279	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:44305279C>T	ENST00000264664.4	-	3	559	c.445G>A	c.(445-447)Gac>Aac	p.D149N		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	149					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCTTACAGTCATTGTTAAAT	0.378000													12	86					0	0	0.010729	0	0
PLEC	5339	broad.mit.edu	37	8	144991527	144991527	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:144991527C>G	ENST00000322810.4	-	32	13042	c.12873G>C	c.(12871-12873)gtG>gtC	p.V4291V	PLEC_ENST00000345136.3_Silent_p.V4154V|PLEC_ENST00000357649.2_Silent_p.V4158V|PLEC_ENST00000356346.3_Silent_p.V4140V|PLEC_ENST00000354589.3_Silent_p.V4154V|PLEC_ENST00000436759.2_Silent_p.V4181V|PLEC_ENST00000527096.1_Silent_p.V4177V|PLEC_ENST00000354958.2_Silent_p.V4132V|PLEC_ENST00000398774.2_Silent_p.V4122V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4291	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGCCTCGTACACTGACATCT	0.622000													6	72					0	0	0.001168	0	0
NUDT2	318	broad.mit.edu	37	9	34339067	34339067	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:34339067C>G	ENST00000379158.2	+	4	388	c.30C>G	c.(28-30)atC>atG	p.I10M	NUDT2_ENST00000379155.5_Missense_Mutation_p.I10M|NUDT2_ENST00000346365.4_Missense_Mutation_p.I10M	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	10	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	p.I10M(1)		lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCTTGATCATCTTCCGAAGAT	0.428000													14	41					0	0	0.002450	0	0
OR51M1	390059	broad.mit.edu	37	11	5410918	5410918	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:5410918T>C	ENST00000328611.3	+	1	312	c.290T>C	c.(289-291)tTc>tCc	p.F97S	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	97						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGGATCTTCTGGTTTAAC	0.502000													33	82					0	0	0.002836	0	0
FAM65A	79567	broad.mit.edu	37	16	67574260	67574260	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:67574260A>G	ENST00000540839.3	+	9	905	c.685A>G	c.(685-687)Atg>Gtg	p.M229V	FAM65A_ENST00000042381.4_Missense_Mutation_p.M209V|FAM65A_ENST00000428437.2_Missense_Mutation_p.M223V|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000379312.3_Missense_Mutation_p.M213V|FAM65A_ENST00000422602.2_Missense_Mutation_p.M229V			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	213						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCATCTCCGAATGAAAGGTAC	0.612000													15	40					0	0	0.004007	0	0
COL14A1	7373	broad.mit.edu	37	8	121292244	121292244	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:121292244C>T	ENST00000297848.3	+	29	3822	c.3552C>T	c.(3550-3552)ccC>ccT	p.P1184P	COL14A1_ENST00000309791.4_Silent_p.P1184P|COL14A1_ENST00000247781.3_Silent_p.P1089P	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1184	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCAGTAAGCCCAGCGCACGCC	0.443000													5	62					0	0	0.000602	0	0
IFT74	80173	broad.mit.edu	37	9	27056421	27056421	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:27056421A>G	ENST00000443698.1	+	18	1758	c.1587A>G	c.(1585-1587)ctA>ctG	p.L529L	IFT74_ENST00000433700.1_Silent_p.L529L|IFT74_ENST00000380062.5_Silent_p.L529L	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	529						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		ATGAGGCACTAAAAACACAAT	0.308000													21	27					0	0	0.008871	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47241498	47241498	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:47241498G>A	ENST00000300404.2	+	8	1054	c.995G>A	c.(994-996)cGc>cAc	p.R332H	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.R272H|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.R246H	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	332					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ACTTTCCTCCGCCCCCACAAG	0.502000													60	97					0	0	0.003610	0	0
PLSCR4	57088	broad.mit.edu	37	3	145917612	145917612	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:145917612A>G	ENST00000354952.2	-	6	852	c.612T>C	c.(610-612)tcT>tcC	p.S204S	PLSCR4_ENST00000446574.2_Silent_p.S204S|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000493382.1_Silent_p.S204S	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	204					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CTTGTCTGGCAGAGGGGCAAC	0.502000													6	17					0	0	0.001168	0	0
FARP2	9855	broad.mit.edu	37	2	242415337	242415337	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:242415337C>T	ENST00000264042.3	+	19	2367	c.2197C>T	c.(2197-2199)Ctg>Ttg	p.L733L		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	733					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCTGGAGAACCTGCAGAAGCT	0.557000													9	26					0	0	0.008291	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629889	122629889	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:122629889A>T	ENST00000195173.4	-	22	3523	c.3220T>A	c.(3220-3222)Tca>Aca	p.S1074T	SEMA5B_ENST00000451055.2_Missense_Mutation_p.F1086Y|SEMA5B_ENST00000357599.3_Missense_Mutation_p.F1032Y			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	0					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GATGAGATTGAACCCTAGGGG	0.587000													11	14					0	0	0.008291	0	0
RFX6	222546	broad.mit.edu	37	6	117248219	117248219	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:117248219C>A	ENST00000332958.2	+	17	1931	c.1915C>A	c.(1915-1917)Cat>Aat	p.H639N		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	639					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GATTGCTGGTCATCTGATGAC	0.453000													19	55					1.2644e-06	1.41013e-06	0.010504	1	0
AQP10	89872	broad.mit.edu	37	1	154296361	154296361	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:154296361C>T	ENST00000484864.1	+	5	822	c.786C>T	c.(784-786)ctC>ctT	p.L262L	AQP10_ENST00000324978.3_Intron|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	0					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACAGCACTCTGCCTTTAAA	0.527000													2	3					0	0	0.004672	0	0
PEX1	5189	broad.mit.edu	37	7	92120800	92120800	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:92120800G>C	ENST00000248633.4	-	21	3319	c.3224C>G	c.(3223-3225)tCt>tGt	p.S1075C	AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.S753C|PEX1_ENST00000428214.1_Missense_Mutation_p.S1018C	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1075					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)			GTCACTATCAGAGCTGGAACT	0.373000													16	63					0	0	0.004007	0	0
SLC35D3	340146	broad.mit.edu	37	6	137243715	137243715	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:137243715C>T	ENST00000331858.4	+	1	314	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	50					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CTGACCAGCTCCACCGCGGCG	0.687000													12	12					0	0	0.001855	0	0
ABCA13	154664	broad.mit.edu	37	7	48313389	48313389	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:48313389G>C	ENST00000435803.1	+	17	4150	c.4126G>C	c.(4126-4128)Gac>Cac	p.D1376H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1376					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACGTATTCTAGACACGTTAAA	0.328000													6	15					0	0	0.001168	0	0
CYLC1	1538	broad.mit.edu	37	X	83128670	83128670	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:83128670G>A	ENST00000329312.4	+	4	991	c.954G>A	c.(952-954)aaG>aaA	p.K318K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	318					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAATGTCAAGAAAGATGACA	0.353000													22	6					0	0	0.002299	0	0
NCOA5	57727	broad.mit.edu	37	20	44692044	44692044	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:44692044C>T	ENST00000290231.6	-	7	1269	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TCCTTCCGCTCTCGCAGGTAG	0.577000													5	40					0	0	0.000602	0	0
CCNG2	901	broad.mit.edu	37	4	78081923	78081923	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:78081923C>T	ENST00000316355.5	+	4	682	c.326C>T	c.(325-327)gCt>gTt	p.A109V	CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.A109V|CCNG2_ENST00000354403.5_Missense_Mutation_p.A109V|CCNG2_ENST00000509972.1_Missense_Mutation_p.A109V|CCNG2_ENST00000502280.1_Missense_Mutation_p.A109V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	109					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTTGCTGGCTGCTAGAATA	0.383000													40	78					0	0	0.007835	0	0
RADIL	55698	broad.mit.edu	37	7	4862158	4862158	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:4862158G>A	ENST00000399583.3	-	6	1669	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000538469.1_Silent_p.C254C	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	494					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CAGCCATGGCGCAGCTGGCCA	0.532000													18	28					0	0	0.007413	0	0
NBEA	26960	broad.mit.edu	37	13	35517144	35517144	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:35517144C>G	ENST00000540320.1	+	1	721	c.187C>G	c.(187-189)Cct>Gct	p.P63A	NBEA_ENST00000400445.3_Missense_Mutation_p.P63A|NBEA_ENST00000379939.2_Missense_Mutation_p.P63A|NBEA_ENST00000310336.4_Missense_Mutation_p.P63A			Q8NFP9	NBEA_HUMAN	neurobeachin	63						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATGATTAACCCTTCGGTGCC	0.652000													9	16					0	0	0.004482	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101572684	101572684	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:101572684A>G	ENST00000310954.6	-	13	2339	c.2053T>C	c.(2053-2055)Ttt>Ctt	p.F685L		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	685					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGATTGCAAATCCATTGAAG	0.308000													13	10					0	0	0.002450	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129950552	129950552	+	Silent	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129950552T>C	ENST00000368149.2	-	5	820	c.732A>G	c.(730-732)aaA>aaG	p.K244K		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	244					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGGAGCTCTCTTTCTGATTGA	0.438000													20	72					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9049324	9049324	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:9049324G>A	ENST00000397910.4	-	5	32510	c.32307C>T	c.(32305-32307)gtC>gtT	p.V10769V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10771	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						CAGGATGGGTGACTAATGAGG	0.483000													14	97					0	0	0.003163	0	0
MYO5C	55930	broad.mit.edu	37	15	52531989	52531989	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:52531989C>A	ENST00000261839.7	-	21	2805	c.2644G>T	c.(2644-2646)Gtg>Ttg	p.V882L	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	882	IQ 5.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATATTAAGCACGAATCGTCGG	0.438000													13	60					2.27111e-07	2.56768e-07	0.001368	1	0
CDH18	1016	broad.mit.edu	37	5	19747278	19747278	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:19747278G>A	ENST00000507958.1	-	6	1286	c.296C>T	c.(295-297)aCt>aTt	p.T99I	CDH18_ENST00000502796.1_Missense_Mutation_p.T99I|CDH18_ENST00000382275.1_Missense_Mutation_p.T99I|CDH18_ENST00000506372.1_Missense_Mutation_p.T99I|CDH18_ENST00000511273.1_Missense_Mutation_p.T99I|CDH18_ENST00000274170.4_Missense_Mutation_p.T99I			Q13634	CAD18_HUMAN	cadherin 18, type 2	99	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATAAATATAGTCCCAGCACC	0.418000													41	51					0	0	0.006230	0	0
SYNE2	23224	broad.mit.edu	37	14	64596835	64596835	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64596835G>A	ENST00000357395.3	+	77	14508	c.3364G>A	c.(3364-3366)Gag>Aag	p.E1122K	SYNE2_ENST00000344113.4_Missense_Mutation_p.E4737K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1122K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1371K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4654K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4737K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4737					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTCGTCACTGAGAGCCAGCA	0.468000													4	32					0	0	0.009096	0	0
MYO16	23026	broad.mit.edu	37	13	109438041	109438041	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:109438041T>C	ENST00000356711.2	+	5	626	c.500T>C	c.(499-501)gTa>gCa	p.V167A	MYO16_ENST00000251041.5_Missense_Mutation_p.V167A|MYO16_ENST00000357550.2_Missense_Mutation_p.V167A|MYO16_ENST00000467639.1_3'UTR	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	167					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GATTATGCTGTAGAAGGGACA	0.343000													21	24					0	0	0.003330	0	0
SERPINC1	462	broad.mit.edu	37	1	173878987	173878987	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:173878987G>T	ENST00000367698.3	-	5	974	c.856C>A	c.(856-858)Cag>Aag	p.Q286K		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	286			Missing (in AT3D; type-I).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TTGCCTTCCTGGTACATCATA	0.522000													13	65					2.27111e-07	2.56768e-07	0.001368	1	0
MUSK	4593	broad.mit.edu	37	9	113538912	113538912	+	Splice_Site	SNP	A	A	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:113538912A>C	ENST00000189978.5	+	10	1495	c.1360_splice	c.e10-1	p.D454_splice	MUSK_ENST00000374438.1_Intron|MUSK_ENST00000416899.2_Intron|MUSK_ENST00000374448.4_Splice_Site_p.D454_splice			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	454					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCCCCTTCAGATTATAACAAA	0.338000													18	56					0	0	0.010504	0	0
CNOT1	23019	broad.mit.edu	37	16	58589282	58589282	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:58589282C>T	ENST00000317147.5	-	21	3096	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.E917K|CNOT1_ENST00000441024.2_Missense_Mutation_p.E922K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	922				E -> G (in Ref. 1; ABQ66268).	nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGTCCTTTCTCAATTATACCA	0.388000													28	90					0	0	0.006320	0	0
NTN3	4917	broad.mit.edu	37	16	2522335	2522335	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:2522335C>G	ENST00000293973.1	+	1	836	c.633C>G	c.(631-633)ctC>ctG	p.L211L		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	211	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GCCCAGTGCTCCAAGACTGGG	0.672000													4	22					0	0	0.009096	0	0
CD109	135228	broad.mit.edu	37	6	74477802	74477802	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:74477802G>T	ENST00000437994.2	+	14	1953	c.1522G>T	c.(1522-1524)Gct>Tct	p.A508S	CD109_ENST00000422508.2_Missense_Mutation_p.A431S|CD109_ENST00000287097.5_Missense_Mutation_p.A508S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	508						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A508T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGTTGGTGGCTGTAGGAAA	0.363000													17	38					2.23348e-06	2.46583e-06	0.004007	1	0
PTF1A	256297	broad.mit.edu	37	10	23481462	23481462	+	Translation_Start_Site	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:23481462G>C	ENST00000376504.3	+	1	207	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	1					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CGGCGAGCATGGACGCGGTGT	0.657000													8	35					0	0	0.003080	0	0
ZNF761	388561	broad.mit.edu	37	19	53950475	53950475	+	RNA	SNP	G	G	T	rs8111707	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53950475G>T	ENST00000454407.1	+	0	407							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CTCTTGGTACGTGAGGAAGAA	0.438000													3	45					0.004672	0.00489518	0.004672	1	0
SLC24A2	25769	broad.mit.edu	37	9	19786060	19786060	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:19786060G>A	ENST00000341998.2	-	1	866	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L269F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	269					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GCTGTTAAGAGAAGCAAGCTT	0.393000													14	39					0	0	0.002450	0	0
MALAT1	378938	broad.mit.edu	37	11	65266459	65266459	+	RNA	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:65266459T>A	ENST00000534336.1	+	0	1227					NR_002819.2																						GGTGATCGAATTCCGGTGATG	0.498000													44	37					0	0	0.013114	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35516979	35516979	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:35516979C>T	ENST00000599564.1	+	20	2429	c.2358C>T	c.(2356-2358)caC>caT	p.H786H	GRAMD1A_ENST00000317991.5_Silent_p.H703H|GRAMD1A_ENST00000411896.2_Silent_p.H692H|GRAMD1A_ENST00000504615.2_Silent_p.H465H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	703						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAAGCTGCACCAAGGCATCA	0.647000													7	25					0	0	0.004482	0	0
AP5M1	55745	broad.mit.edu	37	14	57749862	57749862	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:57749862C>T	ENST00000261558.3	+	6	1613	c.1207C>T	c.(1207-1209)Ctt>Ttt	p.L403F	AP5M1_ENST00000431972.2_Missense_Mutation_p.L417F|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	403	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GGAAATTAGTCTTTCTGGAAC	0.318000													8	39					0	0	0.004482	0	0
CALCR	799	broad.mit.edu	37	7	93073008	93073008	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:93073008A>G	ENST00000359558.2	-	11	1111	c.812T>C	c.(811-813)aTg>aCg	p.M271T	CALCR_ENST00000426151.1_Missense_Mutation_p.M237T|CALCR_ENST00000421592.1_Missense_Mutation_p.M253T|CALCR_ENST00000360249.4_Missense_Mutation_p.M253T|CALCR_ENST00000394441.1_Missense_Mutation_p.M237T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	253					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTCACAGAGCATCCAGAAATA	0.443000													27	71					0	0	0.008361	0	0
RELB	5971	broad.mit.edu	37	19	45540982	45540982	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:45540982C>T	ENST00000221452.8	+	12	1824	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	RELB_ENST00000540120.1_Silent_p.F558F|RELB_ENST00000505236.1_Silent_p.F555F	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	558						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCAACATGTTCCCCAATCATT	0.697000													5	33					0	0	0.001168	0	0
LRRC66	339977	broad.mit.edu	37	4	52861475	52861475	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:52861475A>G	ENST00000343457.3	-	4	1719	c.1713T>C	c.(1711-1713)taT>taC	p.Y571Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	571						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CATTGGAATCATAACGGCTTG	0.498000													23	92					0	0	0.002299	0	0
CDK11A	728642	broad.mit.edu	37	1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-	rs147453611	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:1650883_1650885delTCT	ENST00000356200.3	-	3	369_371	c.135_137delAGA	c.(133-138)gat>ga	p.ED45del	CDK11A_ENST00000404249.3_In_Frame_Del_p.ED79del|CDK11A_ENST00000358779.5_In_Frame_Del_p.ED79del|CDK11A_ENST00000357760.2_In_Frame_Del_p.ED79del|CDK11A_ENST00000378635.3_In_Frame_Del_p.ED79del|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_In_Frame_Del_p.ED79del|CDK11A_ENST00000378638.2_In_Frame_Del_p.ED45del					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCCTC	0.394													30	286	---	---	---	---					
ZNF436	80818	broad.mit.edu	37	1	23689135	23689136	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:23689135_23689136insCA	ENST00000314011.4	-	4	875_876	c.739_740insTG	c.(739-741)gaafs	p.E247fs	ZNF436_ENST00000374608.3_Frame_Shift_Ins_p.E247fs|ZNF436_ENST00000374609.1_Frame_Shift_Ins_p.E247fs	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATAGGGTTTCTCACCACTGTGG	0.500													33	51	---	---	---	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gttcagfs	p.Q320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													4	9	---	---	---	---					
IAH1	285148	broad.mit.edu	37	2	9624665	9624666	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:9624665_9624666insT	ENST00000470914.1	+	4	527_528	c.211_212insT	c.(211-213)gcafs	p.A71fs	IAH1_ENST00000545602.1_Frame_Shift_Ins_p.A71fs|IAH1_ENST00000497473.1_Frame_Shift_Ins_p.A184fs|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_Frame_Shift_Ins_p.A71fs			Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	184					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGGACCCTGATGCAGGACAGC	0.515													25	34	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32089442	32089443	+	Frame_Shift_Ins	INS	-	-	TCGT			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:32089442_32089443insTCGT	ENST00000438447.1	+	20	6276_6277	c.5888_5889insTCGT	c.(5887-5889)cctfs	p.P1963fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P1963fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1963					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCAAGCCACCTCTTGCCACCT	0.604													27	93	---	---	---	---					
PRPH2	5961	broad.mit.edu	37	6	42666201	42666202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:42666201_42666202insT	ENST00000230381.5	-	3	1111_1112	c.872_873insA	c.(871-873)gggfs	p.G291fs		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	291					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGGACACACCATCCAGCGACGT	0.589													10	41	---	---	---	---					
SPTBN2	6712	broad.mit.edu	37	11	66460538	66460557	+	Frame_Shift_Del	DEL	GCTTCTTCACCTCTGCCTGG	GCTTCTTCACCTCTGCCTGG	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:66460538_66460557delGCTTCTTCACCTCTGCCTGG	ENST00000533211.1	-	25	5200_5219	c.4869_4888delCCAGGCAGAGGTGAAGAAGC	c.(4867-4890)gcacfs	p.AQAEVKKH1623fs	SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.AQAEVKKH1623fs|SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.AQAEVKKH1623fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1623					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCACCTGGTGCTTCTTCACCTCTGCCTGGGCACTCAGCT	0.632													9	53	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445184	49445184	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:49445184delA	ENST00000301067.7	-	10	2281	c.2282delT	c.(2281-2283)cafs	p.L761fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTGCGGAGATAGGTGTGGCTC	0.697													9	39	---	---	---	---					
ZNF174	7727	broad.mit.edu	37	16	3452111	3452111	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:3452111delA	ENST00000268655.4	+	1	692	c.107delA	c.(106-108)cafs	p.Q36fs	ZNF174_ENST00000571936.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000572544.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000575752.1_Frame_Shift_Del_p.Q36fs|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000344823.5_Frame_Shift_Del_p.Q36fs	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	36					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCTCCTCTGCAAAAAAACTGC	0.502													7	226	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577062	7577062	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:7577062delT	ENST00000420246.2	-	8	1008	c.876delA	c.(874-876)aafs	p.K292fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.K292fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K292fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K292fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	292	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		K -> E (in sporadic cancers; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K291fs*48(8)|p.0?(8)|p.G293fs*13(3)|p.K292N(3)|p.?(2)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.K292K(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGCTCCCCTTTCTTGCGGA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	20	---	---	---	---					
IFNL2	282616	broad.mit.edu	37	19	39760455	39760455	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:39760455delA	ENST00000331982.5	+	5	553	c.498delA	c.(496-498)ccfs	p.P166fs		NM_172138.1	NP_742150.1			interferon, lambda 2																		AGGAGGCCCCAAAAAAGGTGA	0.677													15	27	---	---	---	---					
FGF21	26291	broad.mit.edu	37	19	49260229	49260229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:49260229delG	ENST00000593756.1	+	3	854	c.282delG	c.(280-282)ttfs	p.L94fs	FGF21_ENST00000222157.3_Frame_Shift_Del_p.L94fs			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	94					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTCAAATCTTGGGAGTCAAGA	0.577													30	130	---	---	---	---