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
TMEM48	55706	broad.mit.edu	37	1	54284690	54284690	+	Silent	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:54284690T>C	uc001cvs.3	-	5	948	c.657A>G	c.(655-657)gaA>gaG	p.E219E	TMEM48_uc010onu.2_Silent_p.E179E|TMEM48_uc001cvt.3_Silent_p.E96E|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	219					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						GGAACAGTGATTCCACACAAC	0.318000													3	34					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150932018	150932018	+	Silent	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr3:150932018G>A	uc003eyr.1	-	2	565	c.87C>T	c.(85-87)taC>taT	p.Y29Y	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Silent_p.Y29Y|P2RY14_uc021xfz.1_Silent_p.Y29Y	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	29						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGACCATACAGTACAGCACAG	0.438000													4	139					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6281223	6281223	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:6281223G>C	uc001mcp.3	+	0	320	c.65G>C	c.(64-66)tGc>tCc	p.C22S	CCKBR_uc001mcq.3_5'UTR|CCKBR_uc001mcr.3_Missense_Mutation_p.C22S|CCKBR_uc001mcs.3_Missense_Mutation_p.C22S	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	22					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)	GCTTCCCTGTGCCGCCCGGGG	0.716000													3	10					0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													4	126					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262415	128262415	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:128262415A>G	uc002ton.2	-	2	1367	c.1064T>C	c.(1063-1065)aTg>aCg	p.M355T	IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	355	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTTTCTGTCCATATGGCTGTC	0.423000													24	142					0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39385568	39385568	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr22:39385568G>A	uc003awo.1	+	4	730	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.G226S|APOBEC3B_uc003awq.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	226					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CCTGGACAATGGCACCTGGGT	0.562000													13	28					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17599863	17599863	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:17599863C>T	uc001bai.3	+	9	1116	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	359					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TACGTTCAGGCGCCGCACAAG	0.602000													4	71					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530529	47530529	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:47530529G>A	uc001wwj.4	-	6	1606	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	MDGA2_uc001wwi.4_Missense_Mutation_p.T185M|MDGA2_uc010ani.3_5'UTR	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	414	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ACATGTGTACGTCCCAAAATC	0.408000													6	182					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977519	6977519	+	Silent	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:6977519C>T	uc001mey.3	+	6	1899	c.1311C>T	c.(1309-1311)agC>agT	p.S437S	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Silent_p.S199S|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	437					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CCTGCACAAGCAATAAATGTG	0.378000													4	55					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874483	39874483	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:39874483G>A	uc001zkh.3	+	2	336	c.157G>A	c.(157-159)Gac>Aac	p.D53N		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	53	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAAGGGCCCCGACCCTTCCAG	0.607000													3	35					0	0	1	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	G	A	rs114681793	by1000genomes	TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000													4	50					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117350	117350	+	RNA	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrGL000205.1:117350C>A	uc002kgk.4	+	0		c.728C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCACCTGGCCTTCTGTGAG	0.577000													4	45					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49697949	49697949	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr3:49697949C>T	uc003cxe.4	+	5	8785	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2891					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCCTGGTCCGCAAGGTGAA	0.657000													6	178					0	0	1	0	0
MST4	51765	broad.mit.edu	37	X	131188793	131188793	+	Silent	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:131188793A>G	uc004ewk.1	+	2	478	c.177A>G	c.(175-177)gaA>gaG	p.E59E	MST4_uc004ewl.1_Intron|MST4_uc011mux.1_Silent_p.E59E|MST4_uc010nrj.1_Silent_p.E59E|MST4_uc004ewm.1_Silent_p.E59E	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	59	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACCTTGAGGAAGCCGAAGATG	0.373000													23	20					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78194272	78194272	+	Silent	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:78194272G>A	uc001dht.3	-	10	1283	c.936C>T	c.(934-936)agC>agT	p.S312S	USP33_uc001dhs.3_Silent_p.S33S|USP33_uc001dhu.3_Silent_p.S281S|USP33_uc001dhv.3_Silent_p.S117S|USP33_uc001dhw.3_Silent_p.S312S	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	312					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATCCGACTGGCTCTTGTCTT	0.378000													9	86					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216634	10216634	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr17:10216634C>T	uc002gmk.1	-	29	4112	c.4022G>A	c.(4021-4023)cGc>cAc	p.R1341H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1341					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.R1341S(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGTCGTGGCGGGAGGACTG	0.572000													6	126					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70336436	70336436	+	Silent	SNP	T	T	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:70336436T>G	uc001oqc.3	-	18	2410	c.2298A>C	c.(2296-2298)ccA>ccC	p.P766P	SHANK2_uc010rqn.2_Silent_p.P242P|SHANK2_uc001opz.3_Silent_p.P237P|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.P234P|SHANK2_uc001opy.3_5'UTR|SHANK2_uc010rqo.1_Silent_p.P45P	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	453					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACGGGGCTTTTGGGCTCCCAG	0.587000													3	96					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622153	65622153	+	Silent	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:65622153C>T	uc002aos.2	-	11	2160	c.1908G>A	c.(1906-1908)acG>acA	p.T636T	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	636										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTGGTGGACGTCTGGTTGG	0.617000													4	74					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135392372	135392372	+	Silent	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr5:135392372C>A	uc003lbf.4	+	11	1727	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	TGFBI_uc003lbg.4_Silent_p.I255I|TGFBI_uc003lbh.4_Silent_p.I348I|TGFBI_uc011cyb.2_Silent_p.I348I	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	522	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGCTGCCATCCAGTCTGCAG	0.502000													23	81					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163279882	163279882	+	Silent	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:163279882G>A	uc002uch.2	-	8	2347	c.2118C>T	c.(2116-2118)caC>caT	p.H706H	KCNH7_uc002uci.3_Silent_p.H699H	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	706					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAGTCCATGCGTGCTGGAAAT	0.443000													7	244					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:4793724C>A	uc002mbf.3	+	0	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													5	42					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128818021	128818021	+	Silent	SNP	G	G	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr4:128818021G>T	uc003ifo.3	+	14	3043	c.2769G>T	c.(2767-2769)gtG>gtT	p.V923V	PLK4_uc011cgs.2_Silent_p.V891V|PLK4_uc011cgt.2_Silent_p.V882V	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	923	POLO box.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGGCAGGAGTGTCTTCTATCA	0.403000													5	94					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:121176678G>A	uc001tza.4	+	7	1107	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_uc010szl.1_Missense_Mutation_p.R326H	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(4)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGACCTGGCGCGCTGCCATG	0.642000													4	96					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23395506	23395506	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:23395506C>G	uc001whm.1	-	7	705	c.614_splice	c.e7-1	p.A205_splice	PRMT5_uc001whl.1_Splice_Site_p.A188_splice|PRMT5_uc010tnf.1_Splice_Site_p.A99_splice|PRMT5_uc010tnh.1_Splice_Site_p.A161_splice|PRMT5_uc010tng.1_Splice_Site_p.A144_splice|PRMT5_uc001whn.1_Intron	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	205					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATTTCAAGAGCTACATGAGGC	0.473000													3	57					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70154579	70154579	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:70154579T>G	uc002eyf.1	+	2	1141	c.184T>G	c.(184-186)Tcc>Gcc	p.S62A	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Intron	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	62					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.S62C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTATCACCTCTCCAAAATGGG	0.557000													4	96					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122292680	122292680	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:122292680C>T	uc001ubj.3	-	6	383	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	HPD_uc001ubk.3_Missense_Mutation_p.A76T	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	115					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ATGATTTTGGCGCCCCGTTCC	0.602000													6	96					0	0	1	0	0
LMBRD1	55788	broad.mit.edu	37	6	70447838	70447838	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:70447838T>C	uc003pfa.3	-	6	908	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	LMBRD1_uc003pez.3_Missense_Mutation_p.Y138C|LMBRD1_uc010kal.3_Missense_Mutation_p.Y138C|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	211					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTACTGTGTAAGTTATAGC	0.284000													3	27					0	0	1	0	0
SOHLH1	402381	broad.mit.edu	37	9	138588485	138588485	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr9:138588485C>A	uc010nbe.3	-	4	695	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	SOHLH1_uc004cgl.3_Missense_Mutation_p.V212L	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	212					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CCACCCCGCACCTGGCACAGC	0.672000													11	28					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83926322	83926322	+	Missense_Mutation	SNP	G	G	A	rs138921537		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:83926322G>A	uc002bjt.1	-	4	2945	c.2857C>T	c.(2857-2859)Cgg>Tgg	p.R953W	BNC1_uc010uos.1_Missense_Mutation_p.R941W	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	953					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						TGGAGCTGCCGGAGGTGCACA	0.507000													4	71					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527681	3527681	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:3527681C>G	uc010dtk.2	+	5	557	c.523C>G	c.(523-525)Ccc>Gcc	p.P175A	FZR1_uc002lxt.2_Missense_Mutation_p.P175A|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	175					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAAGATCCCCTTCAAGGT	0.642000													4	55					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14877064	14877064	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:14877064T>A	uc002mzp.1	-	6	1073	c.617A>T	c.(616-618)aAc>aTc	p.N206I	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.N206I|EMR2_uc002mzo.1_Missense_Mutation_p.N206I|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	206	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GACGGTATTGTTTGGGCCATT	0.592000													12	185					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52137119	52137119	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:52137119T>G	uc003pan.1	-	11	1917	c.1807A>C	c.(1807-1809)Atg>Ctg	p.M603L	MCM3_uc011dwu.1_Missense_Mutation_p.M557L	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	603					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TCTGAGCTCATGCTATCCTGG	0.567000													5	79					0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67694962	67694962	+	Silent	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:67694962T>C	uc002ett.3	+	0	112	c.21T>C	c.(19-21)acT>acC	p.T7T	ACD_uc002etp.4_5'Flank|ACD_uc002etq.4_5'Flank|ACD_uc002etr.4_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.3_Silent_p.T7T	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog alpha (C. elegans) (PARD6A), transcript variant 1, mRNA.	7	Interaction with PRKCI and PRKCZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGCAGAGGACTCCGGCGCGCA	0.751000													4	49					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153046771	153046771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:153046771G>T	uc004fik.3	+	7	2783	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	SRPK3_uc004fim.3_Nonsense_Mutation_p.E54*|SRPK3_uc004fil.3_Nonsense_Mutation_p.E54*|SRPK3_uc004fin.3_Nonsense_Mutation_p.E54*|SRPK3_uc010nul.3_Nonsense_Mutation_p.E12*	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	54	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACGACGAGGAACAGGAAGA	0.667000													3	15					0	0	1	0	0
MOAP1	64112	broad.mit.edu	37	14	93649914	93649914	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:93649914T>C	uc021saw.1	-	0	674	c.674A>G	c.(673-675)aAt>aGt	p.N225S	MOAP1_uc001ybj.3_Missense_Mutation_p.N225S|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	225					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		aattaaaggattgtttatctt	0.453000													29	95					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427811	103427811	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:103427811C>A	uc001dum.3	-	39	3389	c.3071G>T	c.(3070-3072)gGt>gTt	p.G1024V	COL11A1_uc001duk.3_Missense_Mutation_p.G208V|COL11A1_uc001dul.3_Missense_Mutation_p.G1012V|COL11A1_uc001dun.3_Missense_Mutation_p.G973V|COL11A1_uc009weh.3_Missense_Mutation_p.G896V	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1012	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G1024V(2)|p.G1012V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTGAGGACCTGGATCACC	0.388000													5	81					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873014	55873014	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:55873014T>A	uc010riy.2	+	0	496	c.496T>A	c.(496-498)Ttg>Atg	p.L166M		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L166F(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATGAGCAGATTGCATTTCTA	0.428000										HNSCC(53;0.14)			8	215					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	Missense_Mutation	SNP	T	T	G	rs140467724	by1000genomes	TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:22709637T>G	uc010axw.2	-	9	1148	c.250A>C	c.(250-252)Aac>Cac	p.N84H	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.N84H|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		CCCATCTGGTTTTTGAGTTTG	0.547000													7	300					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46320321	46320321	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr21:46320321C>A	uc002zgd.2	-	5	855	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	ITGB2_uc002zgf.3_Missense_Mutation_p.G271C|ITGB2_uc011afl.1_Missense_Mutation_p.G193C|ITGB2_uc010gpw.2_Missense_Mutation_p.G214C|ITGB2_uc002zgg.2_Missense_Mutation_p.G271C	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	271	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCCCGTCGCCCGCGAAATGG	0.622000													15	52					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14627241	14627241	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:14627241G>A	uc010neq.3	+	6	1604	c.844G>A	c.(844-846)Gca>Aca	p.A282T	GLRA2_uc004cwe.4_Missense_Mutation_p.A282T|GLRA2_uc011mio.2_Missense_Mutation_p.A193T|GLRA2_uc010nep.3_Missense_Mutation_p.A282T|GLRA2_uc011mip.2_Missense_Mutation_p.A260T	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	282					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AAATATGGATGCAGCCCCTGC	0.478000													4	75					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115223006	115223006	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:115223006A>G	uc001efe.2	-	5	788	c.740T>C	c.(739-741)gTa>gCa	p.V247A	AMPD1_uc001eff.2_Missense_Mutation_p.V243A	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	214					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GACGTAAACTACACCGTCCTT	0.443000													30	101					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122616696	122616696	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:122616696A>C	uc004etq.4	+	14	2778	c.2486A>C	c.(2485-2487)tAt>tCt	p.Y829S	GRIA3_uc004etr.4_Missense_Mutation_p.Y829S|GRIA3_uc004ets.4_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	829					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGCGTTTTCTATATACTTGTC	0.468000													9	54					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195508343	195508343	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr3:195508343A>T	uc021xjp.1	-	1	10264	c.10108T>A	c.(10108-10110)Tcc>Acc	p.S3370T	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	147					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCACCTGTGGAAGCTGAGGAA	0.587000													3	8					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206224447	206224447	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:206224447T>C	uc001hds.2	+	0	165	c.7T>C	c.(7-9)Tct>Cct	p.S3P		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	3					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTCATGGATTCTGGGCCTCT	0.607000													20	445					0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102292829	102292829	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:102292829C>G	uc010usj.2	+	3	476	c.417C>G	c.(415-417)caC>caG	p.H139Q	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.H139Q(1)									CGAGAAGACACTCGTGGAGGC	0.597000													5	27					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671533	84671533	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr7:84671533G>C	uc003uic.3	-	7	970	c.930C>G	c.(928-930)tgC>tgG	p.C310W	SEMA3D_uc010led.3_Missense_Mutation_p.C310W|SEMA3D_uc003uib.3_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	310	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGGAATTGAGCAAATCAGTC	0.378000													10	293					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185953341	185953341	+	Missense_Mutation	SNP	G	G	A	rs145551718		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:185953341G>A	uc001grq.1	+	18	3060	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N	HMCN1_uc001grr.1_Missense_Mutation_p.S285N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	944	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGATGGGAGCCTCCATATT	0.388000													3	58					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	5					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21040007	21040007	+	Silent	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:21040007C>G	uc001bdr.4	-	2	538	c.420G>C	c.(418-420)ctG>ctC	p.L140L	KIF17_uc001bds.4_Silent_p.L140L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	140	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGTAGATCTCCAGGTAGGAGG	0.582000													3	43					0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr17:39305619G>T	uc002hwb.3	-	0	436	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	139	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.S134Y(4)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637000													3	21					0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96635389	96635391	+	In_Frame_Del	DEL	CAG	-	-	rs35478952		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr7:96635389_96635391delCAG	uc022ahu.1	+	0	100_102	c.100_102delCAG	c.(100-102)cagdel	p.Q44del	DLX6-AS1_uc003uok.3_5'Flank|DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					gcagcagcaacagcagcagcagc	0.680													3	4	---	---	---	---					
DCDC5	100506627	broad.mit.edu	37	11	30938460	30938461	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:30938460_30938461delCC	uc009yjk.1	-	13	1821_1822	c.1752_1753delGG	c.(1750-1755)acggaafs	p.T584fs	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Frame_Shift_Del_p.T243fs	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	215					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						AGCCCTTTTTCCGTTTTCTTTG	0.416													8	44	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12871144	12871145	+	Frame_Shift_Ins	INS	-	CT	CT			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:12871144_12871145insCT	uc001rat.2	+	0	843_844	c.371_372insCT	c.(370-372)aacfs	p.N124fs		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	124					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|autophagic cell death|cell cycle arrest|cellular response to lithium ion|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GCTCCGGCTAACTCTGAGGACA	0.653													16	43	---	---	---	---					
PPTC7	160760	broad.mit.edu	37	12	111020740	111020742	+	In_Frame_Del	DEL	CGC	-	-			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:111020740_111020742delCGC	uc001trh.1	-	0	323_325	c.95_97delGCG	c.(94-99)ggcgac>gac	p.G32del		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	Homo sapiens PTC7 protein phosphatase homolog (S. cerevisiae) (PPTC7), mRNA.	32	Gly-rich.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AGTCCGTAGTcgccgccgccgcc	0.739													4	3	---	---	---	---					
IRS2	8660	broad.mit.edu	37	13	110436062	110436062	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr13:110436062delG	uc001vqv.3	-	0	2853	c.2339delC	c.(2338-2340)ccgfs	p.P780fs		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	780					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GAAGTCGGGCGGGGTGCCCGT	0.692													2	4	---	---	---	---					
TP53BP1	7158	broad.mit.edu	37	15	43748185	43748186	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:43748185_43748186insT	uc001zrs.3	-	11	2753_2754	c.2605_2606insA	c.(2605-2607)atgfs	p.M869fs	TP53BP1_uc010udp.2_Frame_Shift_Ins_p.M869fs|TP53BP1_uc001zrq.4_Frame_Shift_Ins_p.M874fs|TP53BP1_uc001zrr.4_Frame_Shift_Ins_p.M874fs|TP53BP1_uc010udq.1_Frame_Shift_Ins_p.M874fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	869					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCATTAGCCATTTTTGAGTCT	0.470								Other conserved DNA damage response genes					7	189	---	---	---	---					
