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
ATP6V1C2	245973	broad.mit.edu	37	2	10914947	10914947	+	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.chr2:10914947C>A	ENST00000381661.3	+	9	781	c.672C>A	c.(670-672)ttC>ttA	p.F224L	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F224L	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	224					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGGGCCTTTTCACTGTGACTC	0.517000													4	194					0.014758	0.0158932	1	1	0
NDC1	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	ENST00000371429.3	-	6	1255	c.657A>G	c.(655-657)gaA>gaG	p.E219E	NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000540001.1_Silent_p.E219E|NDC1_ENST00000234725.8_Silent_p.E104E|NDC1_ENST00000480952.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		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	ENST00000309170.3	-	3	399	c.87C>T	c.(85-87)taC>taT	p.Y29Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Silent_p.Y29Y	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	29						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			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	ENST00000525462.1	+	1	68	c.65G>C	c.(64-66)tGc>tCc	p.C22S	CCKBR_ENST00000532715.1_Missense_Mutation_p.C22S|CCKBR_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000334619.2_Missense_Mutation_p.C22S|CCKBR_ENST00000531712.1_Missense_Mutation_p.C22S			P32239	GASR_HUMAN	cholecystokinin B receptor	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
NPIPA5	100288332	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	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													4	126					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	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	139	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.S134Y(2)		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					0.115264	0.12225	1	1	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	ENST00000295321.4	-	3	1323	c.1064T>C	c.(1063-1065)aTg>aCg	p.M355T	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.M362T	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	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	ENST00000402182.3	+	5	731	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.G226S|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G226S			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	226					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|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
CHD2	1106	broad.mit.edu	37	15	93485179	93485179	+	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.chr15:93485179A>G	ENST00000394196.4	+	8	1888	c.820A>G	c.(820-822)Aaa>Gaa	p.K274E	CHD2_ENST00000557381.1_Missense_Mutation_p.K274E|CHD2_ENST00000536619.1_Missense_Mutation_p.K287E|CHD2_ENST00000420239.2_Missense_Mutation_p.K274E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	274	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACTGGGAAAGAAAGGAGGTAT	0.328000													3	97					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	ENST00000375460.3	+	10	1116	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	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
ARID1B	57492	broad.mit.edu	37	6	157528683	157528683	+	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.chr6:157528683G>A	ENST00000346085.5	+	20	6409	c.6408G>A	c.(6406-6408)tcG>tcA	p.S2136S	ARID1B_ENST00000367148.1_Silent_p.S2176S|ARID1B_ENST00000350026.5_Silent_p.S2123S|ARID1B_ENST00000275248.4_Silent_p.S2118S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2123					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCTTTTATCGAACCTTGCCC	0.488000													4	167					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	ENST00000397850.2	-	8	1263	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C|ITGB2_ENST00000397857.1_Missense_Mutation_p.G271C|ITGB2_ENST00000302347.5_Missense_Mutation_p.G271C			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	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					2.32078e-09	2.6632e-09	1	1	0
TUBB8P7	0	broad.mit.edu	37	16	90162338	90162338	+	RNA	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.chr16:90162338T>C	ENST00000564451.1	+	0	1691				TUBB8P7_ENST00000567960.1_RNA																							GACATCCCACTCCGGGGGCTA	0.483000													3	131					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	ENST00000426342.1	-	7	1300	c.554C>T	c.(553-555)aCg>aTg	p.T185M	MDGA2_ENST00000399232.2_Missense_Mutation_p.T483M|MDGA2_ENST00000439988.2_Missense_Mutation_p.T414M|MDGA2_ENST00000357362.3_Missense_Mutation_p.T185M	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	414	Ig-like 2.				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
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	ENST00000260356.5	+	3	322	c.157G>A	c.(157-159)Gac>Aac	p.D53N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	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 caspase activity|negative regulation of cGMP-mediated signaling|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
RP11-3P17.4	0	broad.mit.edu	37	3	161147009	161147009	+	RNA	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.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438000													3	98					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	ENST00000296452.4	+	6	8785	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	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	0	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	ENST00000394334.2	+	3	430	c.177A>G	c.(175-177)gaA>gaG	p.E59E	MST4_ENST00000481105.1_Silent_p.E59E|MST4_ENST00000496850.1_Silent_p.E59E|MST4_ENST00000354719.6_Silent_p.E59E|MST4_ENST00000394335.2_Intron	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		59	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	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
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	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(2)		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
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	ENST00000370793.1	-	11	1282	c.936C>T	c.(934-936)agC>agT	p.S312S	USP33_ENST00000370794.3_Silent_p.S281S|USP33_ENST00000357428.1_Silent_p.S312S|USP33_ENST00000370792.3_Silent_p.S312S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	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	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|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
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	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.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													3	64					0	0	1	0	0
C1orf189	388701	broad.mit.edu	37	1	154173060	154173060	+	Nonsense_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.chr1:154173060G>A	ENST00000368525.3	-	3	104	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	27										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TGTGAATTTCGCCACCTGCTC	0.483000													4	213					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	ENST00000418404.3	-	29	4185	c.4022G>A	c.(4021-4023)cGc>cAc	p.R1341H	MYH13_ENST00000570743.1_Missense_Mutation_p.R1341H|MYH13_ENST00000252172.4_Missense_Mutation_p.R1341H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1341					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			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	ENST00000338508.4	-	30	2498	c.2499A>C	c.(2497-2499)ccA>ccC	p.P833P	SHANK2_ENST00000409161.1_Silent_p.P236P|SHANK2_ENST00000449833.2_Silent_p.P237P|SHANK2_ENST00000357171.3_Silent_p.P244P|SHANK2_ENST00000449116.2_Silent_p.P234P|SHANK2_ENST00000423696.2_Silent_p.P453P|SHANK2_ENST00000409530.1_Silent_p.P243P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	453					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain 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	ENST00000327987.4	-	12	2159	c.1908G>A	c.(1906-1908)acG>acA	p.T636T		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	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	ENST00000442011.2	+	12	1727	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	TGFBI_ENST00000305126.8_Silent_p.I522I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	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					6.38683e-12	7.4513e-12	1	1	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	ENST00000332142.5	-	9	2217	c.2118C>T	c.(2116-2118)caC>caT	p.H706H	KCNH7_ENST00000328032.4_Silent_p.H699H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	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	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(1)		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					1	1	1	1	0
PLK4	0	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	ENST00000270861.5	+	15	3043	c.2769G>T	c.(2767-2769)gtG>gtT	p.V923V	PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000514379.1_Silent_p.V882V|PLK4_ENST00000513090.1_Silent_p.V891V|PLK4_ENST00000515069.1_Silent_p.V845V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	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					0.014758	0.0158932	1	1	0
PPT2	9374	broad.mit.edu	37	6	32130687	32130687	+	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.chr6:32130687G>A	ENST00000324816.6	+	9	1437	c.869G>A	c.(868-870)cGt>cAt	p.R290H	PPT2_ENST00000445576.2_Intron|PPT2_ENST00000395523.1_Missense_Mutation_p.R290H|PPT2_ENST00000375143.2_Missense_Mutation_p.R290H|PPT2_ENST00000375137.2_Missense_Mutation_p.R290H|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.R296H|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2-EGFL8_ENST00000422437.1_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	290					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.R296H(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CACTCCAACCGTACCCTTTAT	0.552000													4	240					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	ENST00000324366.8	-	7	837		c.e7-1		PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553641.1_Splice_Site|PRMT5_ENST00000397441.2_Splice_Site|PRMT5_ENST00000216350.8_Splice_Site|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553897.1_Splice_Site|PRMT5_ENST00000538452.1_Splice_Site|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						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	ENST00000288050.4	+	3	1141	c.184T>G	c.(184-186)Tcc>Gcc	p.S62A	PDPR_ENST00000568530.1_Missense_Mutation_p.S62A|PDPR_ENST00000398122.3_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	62					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			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	ENST00000543163.1	-	8	671	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	HPD_ENST00000289004.4_Missense_Mutation_p.A115T	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	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	ENST00000370577.3	-	7	861	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y138C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	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	ENST00000298466.5	-	5	694	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V212L	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	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					3.07112e-06	3.46739e-06	1	1	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	ENST00000278319.5	+	7	1899	c.1311C>T	c.(1309-1311)agC>agT	p.S437S	ZNF215_ENST00000414517.2_Silent_p.S437S|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	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
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	ENST00000345382.2	-	5	2942	c.2857C>T	c.(2857-2859)Cgg>Tgg	p.R953W	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R946W	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	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	ENST00000441788.2	+	7	759	c.523C>G	c.(523-525)Ccc>Gcc	p.P175A	FZR1_ENST00000395095.3_Missense_Mutation_p.P175A|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	175					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|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|S phase of 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
SLC39A6	25800	broad.mit.edu	37	18	33706784	33706784	+	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.chr18:33706784G>T	ENST00000269187.5	-	2	400	c.187C>A	c.(187-189)Cgc>Agc	p.R63S	SLC39A6_ENST00000590986.1_Missense_Mutation_p.R63S|SLC39A6_ENST00000440549.2_Intron	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	63						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTCCATAGCGGTAGAAAAGC	0.373000													3	98					1	1	1	1	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	ENST00000315576.3	-	7	1068	c.617A>T	c.(616-618)aAc>aTc	p.N206I	EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.N206I|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000392964.3_Intron	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	206	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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	ENST00000596288.1	-	12	1969	c.1942A>C	c.(1942-1944)Atg>Ctg	p.M648L	MCM3_ENST00000229854.7_Missense_Mutation_p.M603L|MCM3_ENST00000419835.2_Missense_Mutation_p.M557L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	603					cell cycle checkpoint|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	alpha DNA polymerase:primase complex|centrosome|MCM complex|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
TUBB8P7	0	broad.mit.edu	37	16	90162579	90162579	+	RNA	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.chr16:90162579C>T	ENST00000564451.1	+	0	1932				TUBB8P7_ENST00000567960.1_RNA																							AGGAGTATGCCGAGGAGGAGG	0.512000													4	121					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	ENST00000458121.2	+	1	112	c.21T>C	c.(19-21)acT>acC	p.T7T	PARD6A_ENST00000602551.1_Silent_p.T7T|PARD6A_ENST00000219255.3_Silent_p.T7T	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	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	ENST00000489426.1	+	8	2727	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000370101.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000393786.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54*			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	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					1	1	1	1	0
SH3TC2	79628	broad.mit.edu	37	5	148418008	148418008	+	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.chr5:148418008T>C	ENST00000515425.1	-	8	952	c.851A>G	c.(850-852)aAg>aGg	p.K284R	SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	284	SH3.						binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCATCCTTTTCTCCTGG	0.483000													3	198					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	ENST00000358392.2	-	40	3388	c.3071G>T	c.(3070-3072)gGt>gTt	p.G1024V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1012V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	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.G1012V(1)|p.G1024V(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					0.184627	0.192894	1	1	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	ENST00000313503.1	+	1	496	c.496T>A	c.(496-498)Ttg>Atg	p.L166M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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	0	broad.mit.edu	37	15	22709637	22709637	+	RNA	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	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													7	300					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	ENST00000218075.4	+	7	1374	c.844G>A	c.(844-846)Gca>Aca	p.A282T	GLRA2_ENST00000355020.4_Missense_Mutation_p.A282T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A193T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	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	ENST00000369538.3	-	5	775	c.728T>C	c.(727-729)gTa>gCa	p.V243A	AMPD1_ENST00000520113.2_Missense_Mutation_p.V247A|AMPD1_ENST00000353928.6_Missense_Mutation_p.V214A	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	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	ENST00000264357.5	+	15	2778	c.2486A>C	c.(2485-2487)tAt>tCt	p.Y829S	GRIA3_ENST00000371251.1_Missense_Mutation_p.Y829S|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	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
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	ENST00000367126.4	+	1	472	c.7T>C	c.(7-9)Tct>Cct	p.S3P		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	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
DNM1P47	0	broad.mit.edu	37	15	102292829	102292829	+	RNA	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	ENST00000561463.1	+	0	875																		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	ENST00000284136.6	-	8	973	c.930C>G	c.(928-930)tgC>tgG	p.C310W		NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	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	ENST00000271588.4	+	19	3060	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S944N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	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
OR6C65	403282	broad.mit.edu	37	12	55794777	55794777	+	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.chr12:55794777T>C	ENST00000379665.2	+	1	564	c.465T>C	c.(463-465)ttT>ttC	p.F155F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TCATTATTTTTCCCCCCGTGA	0.438000													4	151					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	ENST00000247986.2	-	3	730	c.420G>C	c.(418-420)ctG>ctC	p.L140L	KIF17_ENST00000400463.3_Silent_p.L140L|KIF17_ENST00000375044.1_Silent_p.L40L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	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
TUBB8P7	0	broad.mit.edu	37	16	90162556	90162556	+	RNA	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.chr16:90162556G>A	ENST00000564451.1	+	0	1909				TUBB8P7_ENST00000567960.1_RNA														p.E430*(1)									TGCCACGGCCGAGGAGGAGGA	0.517000													4	120					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	ENST00000556883.1	-	2	1158	c.674A>G	c.(673-675)aAt>aGt	p.N225S	MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	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
ATP6V1C2	245973	broad.mit.edu	37	2	10914947	10914947	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr2:10914947C>A	ENST00000381661.3	+	9	781	c.672C>A	c.(670-672)ttC>ttA	p.F224L	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F224L	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	224					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGGGCCTTTTCACTGTGACTC	0.517000													4	194					0.014758	0.0155894	1	1	0
NDC1	55706	broad.mit.edu	37	1	54284690	54284690	+	Silent	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr1:54284690T>C	ENST00000371429.3	-	6	1255	c.657A>G	c.(655-657)gaA>gaG	p.E219E	NDC1_ENST00000234725.8_Silent_p.E104E|NDC1_ENST00000540001.1_Silent_p.E219E|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000480952.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr3:150932018G>A	ENST00000309170.3	-	3	399	c.87C>T	c.(85-87)taC>taT	p.Y29Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Silent_p.Y29Y	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	29						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr11:6281223G>C	ENST00000525462.1	+	1	68	c.65G>C	c.(64-66)tGc>tCc	p.C22S	CCKBR_ENST00000531712.1_Missense_Mutation_p.C22S|CCKBR_ENST00000532715.1_Missense_Mutation_p.C22S|CCKBR_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000334619.2_Missense_Mutation_p.C22S			P32239	GASR_HUMAN	cholecystokinin B receptor	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
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													4	126					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr17:39305619G>T	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	139	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.S134Y(2)		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					0.115264	0.120067	1	1	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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr2:128262415A>G	ENST00000295321.4	-	3	1323	c.1064T>C	c.(1063-1065)aTg>aCg	p.M355T	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.M362T	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	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
FRG1B	0	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													5	144					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93485179	93485179	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr15:93485179A>G	ENST00000394196.4	+	8	1888	c.820A>G	c.(820-822)Aaa>Gaa	p.K274E	CHD2_ENST00000557381.1_Missense_Mutation_p.K274E|CHD2_ENST00000536619.1_Missense_Mutation_p.K287E|CHD2_ENST00000420239.2_Missense_Mutation_p.K274E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	274	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACTGGGAAAGAAAGGAGGTAT	0.328000													3	97					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr1:17599863C>T	ENST00000375460.3	+	10	1116	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	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
ARID1B	57492	broad.mit.edu	37	6	157528683	157528683	+	Silent	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr6:157528683G>A	ENST00000346085.5	+	20	6409	c.6408G>A	c.(6406-6408)tcG>tcA	p.S2136S	ARID1B_ENST00000350026.5_Silent_p.S2123S|ARID1B_ENST00000275248.4_Silent_p.S2118S|ARID1B_ENST00000367148.1_Silent_p.S2176S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2123					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCTTTTATCGAACCTTGCCC	0.488000													4	167					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr21:46320321C>A	ENST00000397850.2	-	8	1263	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	ITGB2_ENST00000397857.1_Missense_Mutation_p.G271C|ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C|ITGB2_ENST00000302347.5_Missense_Mutation_p.G271C			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	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					2.32078e-09	2.55969e-09	1	1	0
TUBB8P7	0	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr16:90162338T>C	ENST00000567960.1	+	0	1074				TUBB8P7_ENST00000564451.1_RNA																							GACATCCCACTCCGGGGGCTA	0.483000													3	131					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr14:47530529G>A	ENST00000426342.1	-	7	1300	c.554C>T	c.(553-555)aCg>aTg	p.T185M	MDGA2_ENST00000357362.3_Missense_Mutation_p.T185M|MDGA2_ENST00000399232.2_Missense_Mutation_p.T483M|MDGA2_ENST00000439988.2_Missense_Mutation_p.T414M	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	414	Ig-like 2.				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
THBS1	7057	broad.mit.edu	37	15	39874483	39874483	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr15:39874483G>A	ENST00000260356.5	+	3	322	c.157G>A	c.(157-159)Gac>Aac	p.D53N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	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 caspase activity|negative regulation of cGMP-mediated signaling|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
MST4	0	broad.mit.edu	37	X	131188793	131188793	+	Silent	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chrX:131188793A>G	ENST00000394334.2	+	3	430	c.177A>G	c.(175-177)gaA>gaG	p.E59E	MST4_ENST00000394335.2_Intron|MST4_ENST00000496850.1_Silent_p.E59E|MST4_ENST00000481105.1_Silent_p.E59E|MST4_ENST00000354719.6_Silent_p.E59E	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		59	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	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
RP11-3P17.4	0	broad.mit.edu	37	3	161147009	161147009	+	RNA	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438000													3	98					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													3	90					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr3:49697949C>T	ENST00000296452.4	+	6	8785	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	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
APOBEC3B	9582	broad.mit.edu	37	22	39385568	39385568	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr22:39385568G>A	ENST00000402182.3	+	5	731	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G226S|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.G226S			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	226					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|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
ACADS	35	broad.mit.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(2)		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
USP33	23032	broad.mit.edu	37	1	78194272	78194272	+	Silent	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr1:78194272G>A	ENST00000370793.1	-	11	1282	c.936C>T	c.(934-936)agC>agT	p.S312S	USP33_ENST00000370794.3_Silent_p.S281S|USP33_ENST00000370792.3_Silent_p.S312S|USP33_ENST00000357428.1_Silent_p.S312S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	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	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|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
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													3	64					0	0	1	0	0
C1orf189	388701	broad.mit.edu	37	1	154173060	154173060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr1:154173060G>A	ENST00000368525.3	-	3	104	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	27										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TGTGAATTTCGCCACCTGCTC	0.483000													4	213					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr17:10216634C>T	ENST00000418404.3	-	29	4185	c.4022G>A	c.(4021-4023)cGc>cAc	p.R1341H	MYH13_ENST00000252172.4_Missense_Mutation_p.R1341H|MYH13_ENST00000570743.1_Missense_Mutation_p.R1341H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1341					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr11:70336436T>G	ENST00000338508.4	-	30	2498	c.2499A>C	c.(2497-2499)ccA>ccC	p.P833P	SHANK2_ENST00000449833.2_Silent_p.P237P|SHANK2_ENST00000409530.1_Silent_p.P243P|SHANK2_ENST00000423696.2_Silent_p.P453P|SHANK2_ENST00000357171.3_Silent_p.P244P|SHANK2_ENST00000449116.2_Silent_p.P234P|SHANK2_ENST00000409161.1_Silent_p.P236P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	453					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain 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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr15:65622153C>T	ENST00000327987.4	-	12	2159	c.1908G>A	c.(1906-1908)acG>acA	p.T636T		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr5:135392372C>A	ENST00000442011.2	+	12	1727	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	TGFBI_ENST00000305126.8_Silent_p.I522I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	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					6.38683e-12	7.14944e-12	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163279882	163279882	+	Silent	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr2:163279882G>A	ENST00000332142.5	-	9	2217	c.2118C>T	c.(2116-2118)caC>caT	p.H706H	KCNH7_ENST00000328032.4_Silent_p.H699H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	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
PLK4	0	broad.mit.edu	37	4	128818021	128818021	+	Silent	SNP	G	G	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr4:128818021G>T	ENST00000270861.5	+	15	3043	c.2769G>T	c.(2767-2769)gtG>gtT	p.V923V	PLK4_ENST00000515069.1_Silent_p.V845V|PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000513090.1_Silent_p.V891V|PLK4_ENST00000514379.1_Silent_p.V882V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	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					0.014758	0.0155894	1	1	0
PPT2	9374	broad.mit.edu	37	6	32130687	32130687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr6:32130687G>A	ENST00000324816.6	+	9	1437	c.869G>A	c.(868-870)cGt>cAt	p.R290H	PPT2_ENST00000395523.1_Missense_Mutation_p.R290H|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.R290H|PPT2_ENST00000375143.2_Missense_Mutation_p.R290H|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.R296H|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2-EGFL8_ENST00000422437.1_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	290					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.R296H(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CACTCCAACCGTACCCTTTAT	0.552000													4	240					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr14:23395506C>G	ENST00000324366.8	-	7	837		c.e7-1		PRMT5_ENST00000538452.1_Splice_Site|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553641.1_Splice_Site|PRMT5_ENST00000397441.2_Splice_Site|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Splice_Site|PRMT5_ENST00000553897.1_Splice_Site|PRMT5-AS1_ENST00000599580.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr16:70154579T>G	ENST00000288050.4	+	3	1141	c.184T>G	c.(184-186)Tcc>Gcc	p.S62A	PDPR_ENST00000568530.1_Missense_Mutation_p.S62A|PDPR_ENST00000398122.3_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	62					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr12:122292680C>T	ENST00000543163.1	-	8	671	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	HPD_ENST00000289004.4_Missense_Mutation_p.A115T	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr6:70447838T>C	ENST00000370577.3	-	7	861	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y138C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr9:138588485C>A	ENST00000298466.5	-	5	694	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V212L	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	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					3.07112e-06	3.33817e-06	1	1	0
ZNF215	7762	broad.mit.edu	37	11	6977519	6977519	+	Silent	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr11:6977519C>T	ENST00000278319.5	+	7	1899	c.1311C>T	c.(1309-1311)agC>agT	p.S437S	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Silent_p.S437S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	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
CTD-2049J23.2	0	broad.mit.edu	37	3	159819476	159819476	+	RNA	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr3:159819476C>T	ENST00000497452.1	-	0	517																											CTGGAGATGCCGAAGCACACG	0.473000													4	132					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr19:3527681C>G	ENST00000441788.2	+	7	759	c.523C>G	c.(523-525)Ccc>Gcc	p.P175A	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000395095.3_Missense_Mutation_p.P175A	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	175					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|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|S phase of 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
C17orf97	400566	broad.mit.edu	37	17	263584	263584	+	Missense_Mutation	SNP	C	C	T	rs71369083		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr17:263584C>T	ENST00000360127.6	+	2	966	c.950C>T	c.(949-951)aCt>aTt	p.T317I	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	347	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						GGTTTCCACACTGACCCCGAG	0.687000													4	52					0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706784	33706784	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr18:33706784G>T	ENST00000269187.5	-	2	400	c.187C>A	c.(187-189)Cgc>Agc	p.R63S	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.R63S	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	63						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTCCATAGCGGTAGAAAAGC	0.373000													3	98					1	1	1	1	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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr19:14877064T>A	ENST00000315576.3	-	7	1068	c.617A>T	c.(616-618)aAc>aTc	p.N206I	EMR2_ENST00000601345.1_Missense_Mutation_p.N206I|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000594076.1_Intron	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	206	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr6:52137119T>G	ENST00000596288.1	-	12	1969	c.1942A>C	c.(1942-1944)Atg>Ctg	p.M648L	MCM3_ENST00000419835.2_Missense_Mutation_p.M557L|MCM3_ENST00000229854.7_Missense_Mutation_p.M603L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	603					cell cycle checkpoint|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	alpha DNA polymerase:primase complex|centrosome|MCM complex|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
TUBB8P7	0	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr16:90162579C>T	ENST00000567960.1	+	0	1315				TUBB8P7_ENST00000564451.1_RNA																							AGGAGTATGCCGAGGAGGAGG	0.512000													4	121					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr16:67694962T>C	ENST00000458121.2	+	1	112	c.21T>C	c.(19-21)acT>acC	p.T7T	PARD6A_ENST00000219255.3_Silent_p.T7T|PARD6A_ENST00000602551.1_Silent_p.T7T	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	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
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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr15:83926322G>A	ENST00000345382.2	-	5	2942	c.2857C>T	c.(2857-2859)Cgg>Tgg	p.R953W	BNC1_ENST00000569704.1_Missense_Mutation_p.R946W|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	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
SH3TC2	79628	broad.mit.edu	37	5	148418008	148418008	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr5:148418008T>C	ENST00000515425.1	-	8	952	c.851A>G	c.(850-852)aAg>aGg	p.K284R	SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	284	SH3.						binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCATCCTTTTCTCCTGG	0.483000													3	198					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr1:103427811C>A	ENST00000358392.2	-	40	3388	c.3071G>T	c.(3070-3072)gGt>gTt	p.G1024V	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1012V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	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.G1012V(1)|p.G1024V(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					0.184627	0.189686	1	1	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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr11:55873014T>A	ENST00000313503.1	+	1	496	c.496T>A	c.(496-498)Ttg>Atg	p.L166M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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
SRPK3	26576	broad.mit.edu	37	X	153046771	153046771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chrX:153046771G>T	ENST00000489426.1	+	8	2727	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370101.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000393786.3_Nonsense_Mutation_p.E54*			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	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					1	1	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	54					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044276	33044276	+	Silent	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr21:33044276C>T	ENST00000286835.7	-	20	3262	c.2880G>A	c.(2878-2880)caG>caA	p.Q960Q	SCAF4_ENST00000434667.3_Silent_p.Q945Q|SCAF4_ENST00000399804.1_Silent_p.Q938Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	960	Poly-Gln.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						gctgctgctgctgtggttgct	0.617000													3	87					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chrX:14627241G>A	ENST00000218075.4	+	7	1374	c.844G>A	c.(844-846)Gca>Aca	p.A282T	GLRA2_ENST00000443437.2_Missense_Mutation_p.A193T|GLRA2_ENST00000355020.4_Missense_Mutation_p.A282T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr1:115223006A>G	ENST00000369538.3	-	5	775	c.728T>C	c.(727-729)gTa>gCa	p.V243A	AMPD1_ENST00000353928.6_Missense_Mutation_p.V214A|AMPD1_ENST00000520113.2_Missense_Mutation_p.V247A	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chrX:122616696A>C	ENST00000264357.5	+	15	2778	c.2486A>C	c.(2485-2487)tAt>tCt	p.Y829S	GRIA3_ENST00000371251.1_Missense_Mutation_p.Y829S|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	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
AVPR1B	553	broad.mit.edu	37	1	206224447	206224447	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr1:206224447T>C	ENST00000367126.4	+	1	472	c.7T>C	c.(7-9)Tct>Cct	p.S3P		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	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
DNM1P47	0	broad.mit.edu	37	15	102292829	102292829	+	RNA	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr15:102292829C>G	ENST00000561463.1	+	0	875																		p.H139Q(1)									CGAGAAGACACTCGTGGAGGC	0.597000													5	27					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	53					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr7:84671533G>C	ENST00000284136.6	-	8	973	c.930C>G	c.(928-930)tgC>tgG	p.C310W		NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr1:185953341G>A	ENST00000271588.4	+	19	3060	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S944N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	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
OR6C65	403282	broad.mit.edu	37	12	55794777	55794777	+	Silent	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr12:55794777T>C	ENST00000379665.2	+	1	564	c.465T>C	c.(463-465)ttT>ttC	p.F155F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TCATTATTTTTCCCCCCGTGA	0.438000													4	151					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr1:21040007C>G	ENST00000247986.2	-	3	730	c.420G>C	c.(418-420)ctG>ctC	p.L140L	KIF17_ENST00000375044.1_Silent_p.L40L|KIF17_ENST00000400463.3_Silent_p.L140L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	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
TUBB8P7	0	broad.mit.edu	37	16	90162556	90162556	+	RNA	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr16:90162556G>A	ENST00000567960.1	+	0	1292				TUBB8P7_ENST00000564451.1_RNA														p.E430*(1)									TGCCACGGCCGAGGAGGAGGA	0.517000													4	120					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-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr14:93649914T>C	ENST00000556883.1	-	2	1158	c.674A>G	c.(673-675)aAt>aGt	p.N225S	MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	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
RP11-343N15.1	0	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	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.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													2	4	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96635389	96635391	+	In_Frame_Del	DEL	CAG	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	ENST00000518156.2	+	1	530_532	c.100_102delCAG	c.(100-102)del	p.Q44del	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	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	---	---	---	---					
DCDC1	341019	broad.mit.edu	37	11	30938460	30938461	+	Frame_Shift_Del	DEL	CC	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	ENST00000597505.1	-	24	3407_3408	c.3408_3409delGG	c.(3406-3411)acaafs	p.TE1136fs	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Frame_Shift_Del_p.TE215fs			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGCCCTTTTTCCGTTTTCTTTG	0.416													8	44	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12871144	12871145	+	Frame_Shift_Ins	INS	-	-	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	ENST00000228872.4	+	1	1087_1088	c.371_372insCT	c.(370-372)atcfs	p.I124fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.I124fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	124					autophagic cell death|cell cycle arrest|cellular response to lithium ion|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|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|S phase of mitotic cell cycle	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	42	---	---	---	---					
PPTC7	160760	broad.mit.edu	37	12	111020740	111020742	+	In_Frame_Del	DEL	CGC	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	ENST00000354300.3	-	1	383_385	c.95_97delGCG	c.(94-99)gac>g	p.GD32del		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	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	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	ENST00000375856.3	-	1	2853	c.2339delC	c.(2338-2340)cgfs	p.P781fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	781					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			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	ENST00000263801.3	-	12	2857_2858	c.2605_2606insA	c.(2605-2607)ggcfs	p.G869fs	TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	869					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			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	---	---	---	---					
SEPT1	1731	broad.mit.edu	37	16	30393855	30393855	+	Frame_Shift_Del	DEL	G	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.chr16:30393855delG	ENST00000321367.3	-	2	180	c.135delC	c.(133-135)ggfs	p.G46fs	SEPT1_ENST00000571393.1_5'UTR|SEPT1_ENST00000605106.1_Frame_Shift_Del_p.G4fs	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	0					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCATGACTCCGCCAGCCATCA	0.642													2	4	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													2	4	---	---	---	---					
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)del	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													7	12	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7191540	7191541	+	RNA	DEL	CA	CA	-			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703																											GGGGTGcacgcacacacacaca	0.530													7	48	---	---	---	---					
DCDC1	341019	broad.mit.edu	37	11	30938460	30938461	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr11:30938460_30938461delCC	ENST00000597505.1	-	24	3407_3408	c.3408_3409delGG	c.(3406-3411)acaafs	p.TE1136fs	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Frame_Shift_Del_p.TE215fs			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGCCCTTTTTCCGTTTTCTTTG	0.416													8	44	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12871144	12871145	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr12:12871144_12871145insCT	ENST00000228872.4	+	1	1087_1088	c.371_372insCT	c.(370-372)atcfs	p.I124fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.I124fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	124					autophagic cell death|cell cycle arrest|cellular response to lithium ion|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|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|S phase of mitotic cell cycle	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	42	---	---	---	---					
IRS2	8660	broad.mit.edu	37	13	110436062	110436062	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr13:110436062delG	ENST00000375856.3	-	1	2853	c.2339delC	c.(2338-2340)cgfs	p.P781fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	781					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			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr15:43748185_43748186insT	ENST00000263801.3	-	12	2857_2858	c.2605_2606insA	c.(2605-2607)ggcfs	p.G869fs	TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.G874fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	869					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			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	---	---	---	---					
SEPT1	1731	broad.mit.edu	37	16	30393855	30393855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr16:30393855delG	ENST00000321367.3	-	2	180	c.135delC	c.(133-135)ggfs	p.G46fs	SEPT1_ENST00000571393.1_5'UTR|SEPT1_ENST00000605106.1_Frame_Shift_Del_p.G4fs	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	0					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCATGACTCCGCCAGCCATCA	0.642													2	4	---	---	---	---					
RP11-410N8.1	0	broad.mit.edu	37	20	31173162	31173164	+	RNA	DEL	TCC	TCC	-			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr20:31173162_31173164delTCC	ENST00000457213.1	+	0	162																											CCGCGGctcttcctcctcctcct	0.744													2	4	---	---	---	---