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
TRBV5-4	28611	broad.mit.edu	37	7	142168673	142168673	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:142168673C>A	ENST00000454561.2	-	0	250																											GTCCACTGAGCCTGTGGGAAA	0.547000													7	47					1.55469e-16	2.30678e-16	0.654019	1	0
ATAD3B	83858	broad.mit.edu	37	1	1425771	1425771	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:1425771A>T	ENST00000308647.7	+	14	1588	c.1472A>T	c.(1471-1473)aAc>aTc	p.N491I		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	491							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATTTTGACAACTGTGTTCTT	0.597000													11	53					0	0	0.479597	0	0
ZNF99	7652	broad.mit.edu	37	19	22940928	22940928	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:22940928A>G	ENST00000397104.3	-	5	1509	c.1510T>C	c.(1510-1512)Tgt>Cgt	p.C504R	ZNF99_ENST00000596209.1_Missense_Mutation_p.C595R					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTCTTCACATTTGTAGGGT	0.368000													10	37					0	0	0.361761	0	0
EVPL	2125	broad.mit.edu	37	17	74003853	74003853	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:74003853G>A	ENST00000301607.3	-	22	5686	c.5433C>T	c.(5431-5433)ttC>ttT	p.F1811F	EVPL_ENST00000586740.1_Silent_p.F1833F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1811	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGAGAGAAGAAACTGGTGC	0.592000													27	133					0	0	0.717897	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213873	3213873	+	RNA	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:3213873C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CATTTCATATCCAACGACAGA	0.542000													19	62					0	0	0.624587	0	0
COL2A1	1280	broad.mit.edu	37	12	48380960	48380960	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:48380960C>A	ENST00000380518.3	-	21	1431		c.e21-1		COL2A1_ENST00000337299.6_Splice_Site|COL2A1_ENST00000493991.1_Splice_Site	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1						axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAGGAGCACCCTGTGGGCATG	0.647000													26	16					7.68411e-24	1.28047e-23	0.729181	1	0
SRRM1	10250	broad.mit.edu	37	1	24995964	24995964	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:24995964C>T	ENST00000323848.9	+	14	2405	c.2090C>T	c.(2089-2091)cCt>cTt	p.P697L	SRRM1_ENST00000447431.2_Missense_Mutation_p.P709L|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P706L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	697	Arg-rich.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCTCAAGTCCTCCACCCGTT	0.602000													6	13					0	0	0.307466	0	0
THBS1	7057	broad.mit.edu	37	15	39874446	39874446	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:39874446C>T	ENST00000260356.5	+	3	285	c.120C>T	c.(118-120)gcC>gcT	p.A40A		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	40	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)	CCGGGGCCGCCCGCAAGGGGT	0.602000													11	35					0	0	0.479597	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724033	38724033	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:38724033C>G	ENST00000342213.2	-	1	1541	c.1195G>C	c.(1195-1197)Gtc>Ctc	p.V399L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	399						integral to membrane	sugar binding	p.V399I(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AATATGAAGACCACGGCAGAG	0.507000													5	40					0	0	0.217242	0	0
HCN1	348980	broad.mit.edu	37	5	45695856	45695856	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:45695856A>T	ENST00000303230.4	-	1	397	c.340T>A	c.(340-342)Ttt>Att	p.F114I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	114	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGCTCCCAAACATGCGGAGG	0.582000													15	121					0	0	0.539581	0	0
NCAM1	4684	broad.mit.edu	37	11	113102391	113102391	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:113102391C>A	ENST00000316851.7	+	9	1084	c.1084C>A	c.(1084-1086)Cgt>Agt	p.R362S	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.R244S|NCAM1_ENST00000401611.2_Missense_Mutation_p.R371S	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	372	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CATGGTGGTGCGTAGCCATGC	0.622000													34	66					1.30091e-30	2.32364e-30	0.827153	1	0
SPTA1	6708	broad.mit.edu	37	1	158639266	158639266	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:158639266C>A	ENST00000368148.3	-	14	1945	c.1765G>T	c.(1765-1767)Gag>Tag	p.E589*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E589*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	589					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGAGTCCTCATACAGTTTT	0.453000													39	157					2.66277e-13	3.63239e-13	0.827153	1	0
KANK4	163782	broad.mit.edu	37	1	62739726	62739726	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:62739726C>G	ENST00000371153.4	-	3	1428	c.1050G>C	c.(1048-1050)tcG>tcC	p.S350S	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	350										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTCCAGGGCCGAGACCTGCT	0.557000													13	86					0	0	0.457914	0	0
TTYH2	94015	broad.mit.edu	37	17	72240186	72240186	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:72240186G>T	ENST00000269346.4	+	6	876	c.802G>T	c.(802-804)Gtg>Ttg	p.V268L	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.V247L	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	268						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTCTGCGGCAGTGGTGAGTTG	0.637000													11	57					7.03913e-09	8.4876e-09	0.411799	1	0
MDFI	4188	broad.mit.edu	37	6	41621101	41621101	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:41621101C>T	ENST00000373050.4	+	4	533	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L				Q99750	MDFI_HUMAN	MyoD family inhibitor	177					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CTGCGAGTTCCTGACGCTGTG	0.652000													87	200					0	0	0.870114	0	0
GABRA2	2555	broad.mit.edu	37	4	46252604	46252604	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:46252604G>T	ENST00000510861.1	-	10	1250	c.1077C>A	c.(1075-1077)tcC>tcA	p.S359S	GABRA2_ENST00000540012.1_Silent_p.S364S|GABRA2_ENST00000514090.1_Silent_p.S359S|GABRA2_ENST00000507069.1_Silent_p.S419S|GABRA2_ENST00000356504.1_Silent_p.S359S|GABRA2_ENST00000381620.4_Silent_p.S359S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	359					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTATCATAACGGAAGCCTTTT	0.388000													22	31					3.62473e-10	4.55528e-10	0.608945	1	0
TRPC5	7224	broad.mit.edu	37	X	111195481	111195481	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:111195481C>A	ENST00000262839.2	-	2	1086	c.168G>T	c.(166-168)gaG>gaT	p.E56D		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	56					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TATAGTAGATCTCAGCCTCCT	0.542000													48	25					9.40368e-32	1.69508e-31	0.870114	1	0
OR1A2	26189	broad.mit.edu	37	17	3101459	3101459	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:3101459C>A	ENST00000381951.1	+	1	647	c.647C>A	c.(646-648)tCc>tAc	p.S216Y		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ATCATTGTCTCCTATGTTCAG	0.443000													47	51					9.77569e-14	1.34854e-13	0.870114	1	0
FLNC	2318	broad.mit.edu	37	7	128492926	128492926	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:128492926G>T	ENST00000325888.8	+	37	6310	c.6049G>T	c.(6049-6051)Gtg>Ttg	p.V2017L	FLNC_ENST00000346177.6_Missense_Mutation_p.V1984L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2017					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGTGGTGAGCGTGCGCAAGAG	0.642000													33	44					9.85521e-28	1.71353e-27	0.819951	1	0
PIK3R5	23533	broad.mit.edu	37	17	8808217	8808217	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:8808217G>T	ENST00000447110.1	-	5	413	c.289C>A	c.(289-291)Cca>Aca	p.P97T	PIK3R5_ENST00000581552.1_Missense_Mutation_p.P97T|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P97T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	97	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TCCGAGTCTGGTGGGAAGTGT	0.547000													51	34					2.27459e-33	4.13046e-33	0.870114	1	0
KIF21A	55605	broad.mit.edu	37	12	39761691	39761691	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:39761691T>C	ENST00000395670.3	-	4	1013	c.594A>G	c.(592-594)gaA>gaG	p.E198E	KIF21A_ENST00000544797.2_Silent_p.E198E|KIF21A_ENST00000541463.2_Silent_p.E198E|KIF21A_ENST00000361961.3_Silent_p.E198E|KIF21A_ENST00000361418.5_Silent_p.E198E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	198	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTACCTCTGATTCTGTATTCA	0.289000													12	248					0	0	0.557998	0	0
DIO3	1735	broad.mit.edu	37	14	102028697	102028697	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:102028697G>T	ENST00000359323.3	+	1	1010	c.786G>T	c.(784-786)tgG>tgT	p.W262C	DIO3_ENST00000510508.4_Missense_Mutation_p.W288C	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	262					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TGCGCACTTGGTTGGAACGCT	0.597000													21	65					3.62473e-10	4.55528e-10	0.608945	1	0
QRICH2	84074	broad.mit.edu	37	17	74288466	74288466	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:74288466A>T	ENST00000262765.5	-	4	2023	c.1844T>A	c.(1843-1845)tTg>tAg	p.L615*		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	615	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGGTTGTGCCAAACCATGCTG	0.542000													54	72					0	0	0.870114	0	0
NPAS4	266743	broad.mit.edu	37	11	66192567	66192567	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:66192567C>A	ENST00000311034.2	+	7	2382	c.2206C>A	c.(2206-2208)Cca>Aca	p.P736T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	736					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGCAGAGGGCCCAGGAGGGGC	0.587000													31	45					2.75727e-19	4.26519e-19	0.804634	1	0
OR4B1	119765	broad.mit.edu	37	11	48238768	48238768	+	Missense_Mutation	SNP	G	G	A	rs149306992		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:48238768G>A	ENST00000309562.2	+	1	425	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R136H(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATTATCAGTCGTCAACTGTGT	0.473000													25	22					0	0	0.667858	0	0
SEPHS2	22928	broad.mit.edu	37	16	30455694	30455694	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:30455694C>G	ENST00000478753.2	-	1	1808	c.1355G>C	c.(1354-1356)aGa>aCa	p.R452T	SEPHS2_ENST00000542752.1_3'UTR			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	0					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AACTTCTGTTCTTTCATCTCA	0.488000													8	89					0	0	0.387290	0	0
MUC5B	727897	broad.mit.edu	37	11	1265033	1265033	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:1265033C>A	ENST00000447027.1	+	31	6990	c.6932C>A	c.(6931-6933)aCg>aAg	p.T2311K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2308K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2308	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCATAACCACGGTGGTGACC	0.672000													35	84					1.06522e-23	1.76906e-23	0.864702	1	0
RAI14	26064	broad.mit.edu	37	5	34823528	34823528	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:34823528C>T	ENST00000265109.3	+	15	1868	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	RAI14_ENST00000503673.1_Silent_p.V527V|RAI14_ENST00000515799.1_Silent_p.V530V|RAI14_ENST00000512629.1_Silent_p.V498V|RAI14_ENST00000506376.1_Silent_p.V519V|RAI14_ENST00000397449.1_Silent_p.V520V|RAI14_ENST00000428746.2_Silent_p.V527V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	527						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGCTGAGGGTCACGGAAGAGG	0.408000													8	90					0	0	0.387290	0	0
TBX3	6926	broad.mit.edu	37	12	115117391	115117391	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:115117391C>G	ENST00000349155.2	-	3	1686	c.723G>C	c.(721-723)ttG>ttC	p.L241F	TBX3_ENST00000257566.3_Missense_Mutation_p.L261F	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	261					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AAGGGAGTTTCAAGATGTCAT	0.443000													7	183					0	0	0.335167	0	0
SMO	6608	broad.mit.edu	37	7	128845065	128845065	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:128845065T>A	ENST00000249373.3	+	3	839	c.559T>A	c.(559-561)Ttc>Atc	p.F187I		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	187					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAACATCAAGTTCAACAGTTC	0.562000			Mis		skin basal cell								16	83					0	0	0.592651	0	0
MUC16	94025	broad.mit.edu	37	19	9059113	9059113	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9059113G>A	ENST00000397910.4	-	3	28536	c.28333C>T	c.(28333-28335)Cct>Tct	p.P9445S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9447	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGCGAAGGTGAGGTTACT	0.498000													13	59					0	0	0.457914	0	0
CACNG3	10368	broad.mit.edu	37	16	24268214	24268214	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:24268214G>T	ENST00000005284.3	+	1	1341	c.139G>T	c.(139-141)Gat>Tat	p.D47Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	47					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATCTACAAGTGATAATGAAAC	0.453000													15	78					6.49762e-13	8.76018e-13	0.539581	1	0
PLEKHA8	84725	broad.mit.edu	37	7	30088838	30088838	+	Splice_Site	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:30088838A>T	ENST00000449726.1	+	5	788		c.e5-1		PLEKHA8_ENST00000396259.1_Splice_Site|PLEKHA8_ENST00000396257.2_Splice_Site|PLEKHA8_ENST00000258679.7_Splice_Site	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8						protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GTTGTTTCGTAGGAGGGAATT	0.408000													45	161					0	0	0.870114	0	0
MAP4	4134	broad.mit.edu	37	3	47951344	47951344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:47951344C>A	ENST00000426837.2	-	10	4705	c.4618G>T	c.(4618-4620)Gga>Tga	p.G1540*	MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000264724.11_Nonsense_Mutation_p.G130*			P27816	MAP4_HUMAN	microtubule-associated protein 4	910					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GAGTGATCTCCATGAATGTTA	0.448000													62	35					1.43675e-24	2.42924e-24	0.870114	1	0
TMEM82	388595	broad.mit.edu	37	1	16073381	16073381	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:16073381C>A	ENST00000375782.1	+	5	915	c.777C>A	c.(775-777)ccC>ccA	p.P259P	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	259	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGCACCCCGGCCTGCAGA	0.692000													3	10					0.004672	0.0048371	0.115264	1	0
KRT25	147183	broad.mit.edu	37	17	38911183	38911183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:38911183C>T	ENST00000312150.4	-	1	401	c.341G>A	c.(340-342)tGg>tAg	p.W114*		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	114	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTTCTCATACCAGCCCTTGAT	0.483000													110	109					0	0	0.870114	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863013	10863013	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:10863013C>A	ENST00000559480.1	+	0	309																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TGGAGCTAAGCAGTCTGAGAT	0.507000													98	369					1.99536e-56	3.91298e-56	0.870114	1	0
P2RY8	286530	broad.mit.edu	37	X	1584780	1584780	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:1584780C>T	ENST00000381297.4	-	2	882	c.672G>A	c.(670-672)gaG>gaA	p.E224E		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	224						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTGCGCCTCCTCCGTGCGCA	0.642000			T	CRLF2	"""B-ALL, Downs associated ALL"""								8	15					0	0	0.278610	0	0
COG5	10466	broad.mit.edu	37	7	107053054	107053054	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:107053054G>C	ENST00000393603.2	-	7	926	c.655C>G	c.(655-657)Ctt>Gtt	p.L219V	COG5_ENST00000347053.3_Missense_Mutation_p.L219V|COG5_ENST00000297135.3_Missense_Mutation_p.L219V|COG5_ENST00000475638.2_5'UTR	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	219					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATTCCAGAAAGATCTATTCCT	0.313000													12	35					0	0	0.411799	0	0
RYR3	6263	broad.mit.edu	37	15	34140600	34140600	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:34140600G>C	ENST00000389232.4	+	94	13676	c.13606G>C	c.(13606-13608)Gac>Cac	p.D4536H	RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Missense_Mutation_p.D4531H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4536					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGGCAGTGGGACCGCTTGGT	0.478000													32	59					0	0	0.812448	0	0
LRP1B	53353	broad.mit.edu	37	2	141093243	141093243	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:141093243G>T	ENST00000389484.3	-	78	13028	c.12057C>A	c.(12055-12057)acC>acA	p.T4019T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4019					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T4019T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTAAGAGTCTGGTGCAGTTGG	0.413000										TSP Lung(27;0.18)			49	105					4.96213e-28	8.67379e-28	0.870114	1	0
GRIN2D	2906	broad.mit.edu	37	19	48908226	48908226	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:48908226C>A	ENST00000263269.3	+	3	789	c.701C>A	c.(700-702)gCc>gAc	p.A234D		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	234						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTGCTCAGTGCCCAGCTCCGC	0.692000													12	19					3.27435e-08	3.88372e-08	0.457914	1	0
CLCA2	9635	broad.mit.edu	37	1	86900248	86900248	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:86900248C>G	ENST00000370565.4	+	6	954	c.792C>G	c.(790-792)aaC>aaG	p.N264K		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	264					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAGCACCAAACCTACAGAACC	0.443000													16	68					0	0	0.520397	0	0
ENTPD6	955	broad.mit.edu	37	20	25193939	25193939	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:25193939A>T	ENST00000360031.2	+	5	673	c.491A>T	c.(490-492)cAg>cTg	p.Q164L	ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q165L|ENTPD6_ENST00000376652.4_Missense_Mutation_p.Q165L|ENTPD6_ENST00000354989.5_Missense_Mutation_p.Q148L	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	165						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTTGCTAAACAGGACATTCCG	0.547000													22	94					0	0	0.654019	0	0
KRT6B	3854	broad.mit.edu	37	12	52844258	52844258	+	Silent	SNP	C	C	T	rs71453292		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:52844258C>T	ENST00000252252.3	-	2	734	c.687G>A	c.(685-687)gtG>gtA	p.V229V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	229	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCCGTTCCCCCACGATGTTGT	0.577000													21	242					0	0	0.654019	0	0
FABP9	646480	broad.mit.edu	37	8	82371416	82371416	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:82371416T>A	ENST00000379071.2	-	2	285	c.230A>T	c.(229-231)gAc>gTc	p.D77V	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	77							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TTTCCGGTTGTCTGCTGTAGT	0.388000													30	133					0	0	0.796494	0	0
CXorf22	170063	broad.mit.edu	37	X	35985933	35985933	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:35985933C>G	ENST00000297866.5	+	10	1864	c.1798C>G	c.(1798-1800)Cat>Gat	p.H600D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	600										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GTCTAAAGACCATCATAAACA	0.408000													6	8					0	0	0.307466	0	0
SZT2	23334	broad.mit.edu	37	1	43869347	43869347	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:43869347A>T	ENST00000562955.1	+	3	229	c.229A>T	c.(229-231)Agg>Tgg	p.R77W	SZT2_ENST00000372450.4_Missense_Mutation_p.R75W|SZT2_ENST00000310739.4_Missense_Mutation_p.R77W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	77						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGTGGTCCCAAGGCCATTCCT	0.527000													52	57					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454308	110454308	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:110454308G>T	ENST00000378402.5	+	35	4381	c.4277G>T	c.(4276-4278)tGg>tTg	p.W1426L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1426	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCATGGCATTGGCAAACACAT	0.433000										HNSCC(38;0.096)			7	114					0.00198382	0.0020714	0.248553	1	0
PARVA	55742	broad.mit.edu	37	11	12549441	12549441	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:12549441A>T	ENST00000334956.8	+	13	1551	c.1208A>T	c.(1207-1209)aAc>aTc	p.N403I	PARVA_ENST00000539723.1_Missense_Mutation_p.N363I|PARVA_ENST00000550549.1_Missense_Mutation_p.N363I	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	363					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GTGTTGTACAACCTCTTCACC	0.512000													28	141					0	0	0.788014	0	0
ZNF595	152687	broad.mit.edu	37	4	59446	59446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:59446C>A	ENST00000509152.2	+	2	312	c.127C>A	c.(127-129)Ctg>Atg	p.L43M	ZNF595_ENST00000526473.2_Missense_Mutation_p.L43M|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CCTGGTCTCCCTGGGTGAGGA	0.428000													26	320					4.02929e-09	4.91884e-09	0.750413	1	0
PASD1	139135	broad.mit.edu	37	X	150842426	150842426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:150842426C>A	ENST00000370357.4	+	15	2188	c.1943C>A	c.(1942-1944)cCc>cAc	p.P648H		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	648						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TATCAAGGGCCCCCCGTGAAC	0.458000													46	29					9.53978e-28	1.66016e-27	0.870114	1	0
FLNB	2317	broad.mit.edu	37	3	58094197	58094197	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:58094197G>T	ENST00000357272.4	+	13	2119	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W	FLNB_ENST00000429972.2_Missense_Mutation_p.G652W|FLNB_ENST00000295956.4_Missense_Mutation_p.G652W|FLNB_ENST00000419752.2_Missense_Mutation_p.G483W|FLNB_ENST00000348383.5_Missense_Mutation_p.G652W|FLNB_ENST00000493452.1_Missense_Mutation_p.G483W|FLNB_ENST00000490882.1_Missense_Mutation_p.G652W|FLNB_ENST00000358537.3_Missense_Mutation_p.G652W			O75369	FLNB_HUMAN	filamin B, beta	652					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCGAGCATACGGGCCAGGTTT	0.473000													19	19					5.26018e-13	7.12611e-13	0.608945	1	0
FKBPL	63943	broad.mit.edu	37	6	32097297	32097297	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:32097297C>A	ENST00000375156.3	-	2	531	c.261G>T	c.(259-261)atG>atT	p.M87I		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	87					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GGGCCTCTGGCATCTGACTGG	0.488000													36	32					2.19358e-23	3.63682e-23	0.812448	1	0
CLSTN2	64084	broad.mit.edu	37	3	140185568	140185568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:140185568G>C	ENST00000458420.3	+	8	1529	c.1339G>C	c.(1339-1341)Gat>Cat	p.D447H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	447					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTGGAAGCTGGATCAGGTATG	0.592000										HNSCC(16;0.037)			14	46					0	0	0.500413	0	0
FBXO40	51725	broad.mit.edu	37	3	121340502	121340502	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:121340502A>T	ENST00000338040.4	+	3	640	c.226A>T	c.(226-228)Atg>Ttg	p.M76L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	76					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCCTCTGTCCATGTCCCGCCA	0.597000													34	98					0	0	0.779181	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68252721	68252721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:68252721C>A	ENST00000347230.4	-	18	3296	c.3158G>T	c.(3157-3159)gGa>gTa	p.G1053V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G1053V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1053					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGGCCTCCTCCCTTTTCTTC	0.498000													30	41					1.80694e-10	2.30177e-10	0.740014	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26423463	26423463	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:26423463G>T	ENST00000466808.2	+	0	382																											CTTCCAAGAAGGCAGGTCCTG	0.512000													37	50					3.7052e-28	6.48824e-28	0.864702	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399448	89399448	+	RNA	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:89399448G>C	ENST00000479981.1	-	0	281																											ATCCACTGCCGCTGAACTTTG	0.478000													35	152					0	0	0.840704	0	0
GIGYF2	26058	broad.mit.edu	37	2	233709131	233709131	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:233709131C>G	ENST00000373566.3	+	26	3415	c.3218C>G	c.(3217-3219)aCt>aGt	p.T1073S	GIGYF2_ENST00000373563.4_Missense_Mutation_p.T1051S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.T1073S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.T1051S|GIGYF2_ENST00000452341.2_3'UTR|GIGYF2_ENST00000409451.3_Missense_Mutation_p.T1072S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.T1045S			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1051					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCTATAAATACTGGTCCTCCT	0.403000													28	79					0	0	0.796494	0	0
TRPM6	140803	broad.mit.edu	37	9	77347647	77347647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:77347647C>A	ENST00000451710.3	-	36	6031	c.5794G>T	c.(5794-5796)Gga>Tga	p.G1932*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.G1923*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.G765*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.G883*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.G1923*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.G1928*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1928	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G1928R(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAATTTTCTCCAACACCTCAA	0.234000													7	9					7.48243e-07	8.56943e-07	0.335167	1	0
EPHB6	2051	broad.mit.edu	37	7	142564021	142564021	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:142564021G>C	ENST00000392957.2	+	9	2196	c.1409G>C	c.(1408-1410)aGc>aCc	p.S470T	EPHB6_ENST00000411471.2_Missense_Mutation_p.S193T|EPHB6_ENST00000442129.1_Missense_Mutation_p.S470T	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	470	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.S455I(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCTGAGCTCAGCCCTGACCCT	0.587000													15	47					0	0	0.479597	0	0
PCF11	51585	broad.mit.edu	37	11	82877020	82877020	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:82877020G>T	ENST00000298281.4	+	5	1533	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	361	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TGACCAATTAGATTCTAAATC	0.308000													8	22					0.000442599	0.000469634	0.335167	1	0
DGKI	9162	broad.mit.edu	37	7	137263021	137263021	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:137263021C>A	ENST00000453654.1	-	16	1332	c.793G>T	c.(793-795)Gca>Tca	p.A265S	DGKI_ENST00000288490.5_Missense_Mutation_p.A565S|DGKI_ENST00000446122.1_Missense_Mutation_p.A565S|DGKI_ENST00000424189.2_Missense_Mutation_p.A565S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	565					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTACCCCTGCATAGAACATT	0.323000													24	47					1.61788e-16	2.39329e-16	0.760397	1	0
AHCTF1	25909	broad.mit.edu	37	1	247014368	247014368	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:247014368C>A	ENST00000366508.1	-	33	5181	c.5045G>T	c.(5044-5046)aGt>aTt	p.S1682I	AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1647I|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1656I|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1647	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTTTGGTCACTAGTTACGGC	0.358000													29	108					5.90632e-09	7.13484e-09	0.760397	1	0
BRAT1	221927	broad.mit.edu	37	7	2577814	2577814	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:2577814C>A	ENST00000340611.4	-	14	2611	c.2355G>T	c.(2353-2355)cgG>cgT	p.R785R		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	785					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCAGCGTGCTCCGCAGGCCCT	0.706000													8	40					2.17888e-05	2.40289e-05	0.335167	1	0
MME	4311	broad.mit.edu	37	3	154886377	154886377	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:154886377A>G	ENST00000460393.1	+	19	1997	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C	MME_ENST00000493237.1_Missense_Mutation_p.Y626C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Missense_Mutation_p.Y626C|MME_ENST00000462745.1_Missense_Mutation_p.Y626C|MME_ENST00000360490.2_Missense_Mutation_p.Y626C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	626					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GTGTATCAGTATGGAAACTTT	0.418000													43	119					0	0	0.870114	0	0
RFX6	222546	broad.mit.edu	37	6	117248310	117248310	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:117248310G>T	ENST00000332958.2	+	17	2022	c.2006G>T	c.(2005-2007)gGc>gTc	p.G669V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	669					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCAAGTGTGGGCCCAGTACTG	0.527000													62	67					1.15773e-35	2.13392e-35	0.870114	1	0
SNHG14	104472715	broad.mit.edu	37	15	25468289	25468289	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:25468289C>A	ENST00000453082.2	+	0	837					NR_003343.1																						CCCTGGTGCACTGAAGCTCCA	0.607000													6	13					0.00116845	0.00122524	0.217242	1	0
KBTBD3	143879	broad.mit.edu	37	11	105923999	105923999	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:105923999G>A	ENST00000526793.1	-	3	1576	c.1417C>T	c.(1417-1419)Ctt>Ttt	p.L473F	KBTBD3_ENST00000531837.1_Missense_Mutation_p.L473F|KBTBD3_ENST00000534815.1_Missense_Mutation_p.L394F	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	469										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AAGCAATCAAGTGATGGGTTA	0.363000													14	42					0	0	0.500413	0	0
CCDC87	55231	broad.mit.edu	37	11	66360264	66360264	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:66360264C>A	ENST00000333861.3	-	1	290	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	75										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCAGGAGGCACTCCCGCTGCT	0.647000											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	39					1.16021e-09	1.43328e-09	0.717897	1	0
DOCK10	55619	broad.mit.edu	37	2	225657746	225657746	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:225657746C>T	ENST00000409592.3	-	47	5351	c.5238G>A	c.(5236-5238)tcG>tcA	p.S1746S	DOCK10_ENST00000258390.7_Silent_p.S1752S			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1752	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GGGTATCCTCCGAGAGCAGGG	0.443000													92	205					0	0	0.870114	0	0
EPHA8	2046	broad.mit.edu	37	1	22925442	22925442	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:22925442C>A	ENST00000166244.3	+	13	2362	c.2290C>A	c.(2290-2292)Cgc>Agc	p.R764S		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	764	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGGCCGCCCGCAACGTCCT	0.632000													4	31					1.23904e-05	1.37337e-05	0.184627	1	0
OR6F1	343169	broad.mit.edu	37	1	247875544	247875544	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:247875544G>T	ENST00000302084.2	-	1	561	c.514C>A	c.(514-516)Cgt>Agt	p.R172S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATGGCACGGGGGCCACAG	0.597000													19	75					1.55795e-14	2.19544e-14	0.608945	1	0
MTRR	4552	broad.mit.edu	37	5	7892890	7892890	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:7892890A>G	ENST00000264668.2	+	11	1532	c.1502A>G	c.(1501-1503)gAa>gGa	p.E501G	MTRR_ENST00000440940.2_Missense_Mutation_p.E474G	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	501	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AACATTGTGGAATTTCTGTCT	0.438000													36	116					0	0	0.847076	0	0
NPR1	4881	broad.mit.edu	37	1	153657501	153657501	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:153657501G>A	ENST00000368680.3	+	8	2018	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	516					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGAGGACGTTGAGCCCAGTAG	0.622000													29	60					0	0	0.717897	0	0
PDE9A	5152	broad.mit.edu	37	21	44182340	44182340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:44182340G>T	ENST00000291539.6	+	14	1293	c.1233G>T	c.(1231-1233)caG>caT	p.Q411H	PDE9A_ENST00000539837.1_Missense_Mutation_p.Q283H|PDE9A_ENST00000398234.3_Missense_Mutation_p.Q310H|PDE9A_ENST00000335512.4_Missense_Mutation_p.Q351H|PDE9A_ENST00000398236.3_Missense_Mutation_p.Q325H|PDE9A_ENST00000398232.3_Missense_Mutation_p.Q344H|PDE9A_ENST00000380328.2_Missense_Mutation_p.Q358H|PDE9A_ENST00000398224.3_Missense_Mutation_p.Q284H|PDE9A_ENST00000328862.6_Missense_Mutation_p.Q385H|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398229.3_Missense_Mutation_p.Q277H|PDE9A_ENST00000398227.3_Missense_Mutation_p.Q251H|PDE9A_ENST00000398225.3_Missense_Mutation_p.Q370H|PDE9A_ENST00000335440.6_Missense_Mutation_p.Q309H|PDE9A_ENST00000349112.3_Missense_Mutation_p.Q283H	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	411	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GGTTCAAGCAGATCCGACAGG	0.622000													10	42					0.010729	0.0109693	0.387290	1	0
OPCML	4978	broad.mit.edu	37	11	132307171	132307171	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:132307171G>T	ENST00000331898.7	-	4	1187	c.609C>A	c.(607-609)agC>agA	p.S203R	OPCML_ENST00000541867.1_Missense_Mutation_p.S203R|OPCML_ENST00000374778.4_Missense_Mutation_p.S162R|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.S196R	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	203	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CGTTCAACGCGCTGCATTCGT	0.542000													26	64					7.68411e-24	1.28047e-23	0.729181	1	0
TTN	7273	broad.mit.edu	37	2	179476514	179476514	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179476514G>C	ENST00000589042.1	-	268	50746	c.50522C>G	c.(50521-50523)aCa>aGa	p.T16841R	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T7901R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T7776R|TTN_ENST00000342175.6_Missense_Mutation_p.T7968R|TTN_ENST00000342992.6_Missense_Mutation_p.T14273R|TTN_ENST00000591111.1_Missense_Mutation_p.T15200R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15200	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGATTTCTGTGGGTTCACT	0.418000													31	150					0	0	0.819951	0	0
PASD1	139135	broad.mit.edu	37	X	150842427	150842427	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:150842427C>A	ENST00000370357.4	+	15	2189	c.1944C>A	c.(1942-1944)ccC>ccA	p.P648P		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	648						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAAGGGCCCCCCGTGAACC	0.458000													46	32					9.53978e-28	1.66016e-27	0.870114	1	0
DENND2D	79961	broad.mit.edu	37	1	111740561	111740561	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:111740561C>T	ENST00000357640.4	-	4	636	c.407G>A	c.(406-408)gGa>gAa	p.G136E	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.G133E	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	136	UDENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CCTGCAGTATCCAATCTTTCT	0.517000													13	20					0	0	0.575678	0	0
STON1	11037	broad.mit.edu	37	2	48809496	48809496	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:48809496C>T	ENST00000309835.3	+	1	1734	c.1724C>T	c.(1723-1725)cCa>cTa	p.P575L	STON1_ENST00000404752.1_Missense_Mutation_p.P575L|STON1_ENST00000406226.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P575L					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTCCTGTCCCATCGCAGTGG	0.493000													21	76					0	0	0.639603	0	0
ZXDC	79364	broad.mit.edu	37	3	126185041	126185041	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:126185041G>A	ENST00000389709.3	-	5	1451	c.1398C>T	c.(1396-1398)caC>caT	p.H466H	ZXDC_ENST00000336332.5_Silent_p.H466H	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	466					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCTTCATGCTGTGCTTGGAGG	0.567000													12	84					0	0	0.387290	0	0
SCN10A	6336	broad.mit.edu	37	3	38763859	38763859	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:38763859T>A	ENST00000449082.2	-	19	3396	c.3397A>T	c.(3397-3399)Agt>Tgt	p.S1133C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1133					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCCCATGGACTCTTGGTGGTA	0.547000													16	235					0	0	0.500413	0	0
PER3	8863	broad.mit.edu	37	1	7848163	7848163	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:7848163A>T	ENST00000377532.3	+	4	673	c.449A>T	c.(448-450)cAg>cTg	p.Q150L	PER3_ENST00000361923.2_Missense_Mutation_p.Q150L|PER3_ENST00000377541.1_Missense_Mutation_p.Q150L			P56645	PER3_HUMAN	period circadian clock 3	150	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTCTGAACAGGCTGCTTTG	0.403000													27	146					0	0	0.769981	0	0
DSG3	1830	broad.mit.edu	37	18	29049064	29049064	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:29049064T>A	ENST00000257189.4	+	12	1732	c.1649T>A	c.(1648-1650)cTc>cAc	p.L550H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	550					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCTCGGCCCTCCTCAGAGCC	0.463000													74	52					0	0	0.870114	0	0
PSMB11	122706	broad.mit.edu	37	14	23512148	23512148	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:23512148C>T	ENST00000408907.2	+	1	773	c.714C>T	c.(712-714)cgC>cgT	p.R238R		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	238					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		ATGTGTCACGCAGTGATGCCT	0.627000													20	29					0	0	0.624587	0	0
KCNB1	3745	broad.mit.edu	37	20	47989977	47989977	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:47989977C>A	ENST00000371741.4	-	2	2286	c.2120G>T	c.(2119-2121)gGa>gTa	p.G707V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	707					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACACTCCAGTCCAGCGACAGC	0.597000													30	39					6.00712e-18	9.10578e-18	0.760397	1	0
IMP3	55272	broad.mit.edu	37	15	75932168	75932168	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:75932168C>G	ENST00000314852.2	-	2	1285	c.342G>C	c.(340-342)gtG>gtC	p.V114V	IMP3_ENST00000403490.1_Silent_p.V114V			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	114	S4 RNA-binding.				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						GCTTGAGGAGCACGGTGGGGA	0.677000													4	9					0	0	0.150653	0	0
BACE1	23621	broad.mit.edu	37	11	117163809	117163809	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:117163809C>T	ENST00000313005.6	-	5	1261	c.801G>A	c.(799-801)gtG>gtA	p.V267V	BACE1_ENST00000428381.2_Silent_p.V198V|BACE1_ENST00000528053.1_Silent_p.V267V|BACE1_ENST00000513780.1_Silent_p.V242V|BACE1_ENST00000445823.2_Silent_p.V223V|BACE1_ENST00000510630.1_Silent_p.V142V|BACE1_ENST00000392937.6_Silent_p.V167V	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	267					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CATTGATCTCCACCCGCACAA	0.507000													111	273					0	0	0.870114	0	0
NUP133	55746	broad.mit.edu	37	1	229606512	229606512	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:229606512C>T	ENST00000261396.3	-	15	1982	c.1891G>A	c.(1891-1893)Ggg>Agg	p.G631R	NUP133_ENST00000366679.1_Missense_Mutation_p.G631R|NUP133_ENST00000537506.1_Missense_Mutation_p.G615R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	631					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ATCGGTGTCCCTCTAACTGGA	0.468000													12	57					0	0	0.500413	0	0
TRAP1	10131	broad.mit.edu	37	16	3724358	3724358	+	Missense_Mutation	SNP	G	G	C	rs143857142		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:3724358G>C	ENST00000575671.1	-	4	1128	c.399C>G	c.(397-399)atC>atG	p.I133M	TRAP1_ENST00000538171.1_Missense_Mutation_p.I289M|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000246957.5_Missense_Mutation_p.I342M			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	342					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GCACGTAGAAGATGCTGCGGA	0.592000													16	76					0	0	0.624587	0	0
KCNH7	90134	broad.mit.edu	37	2	163253255	163253255	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:163253255C>G	ENST00000332142.5	-	11	2707	c.2608G>C	c.(2608-2610)Gca>Cca	p.A870P		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	870					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)	TATACCTTTGCGCTCTCATGC	0.338000													8	19					0	0	0.387290	0	0
HRH3	11255	broad.mit.edu	37	20	60791829	60791829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:60791829C>A	ENST00000340177.5	-	3	855	c.571G>T	c.(571-573)Gag>Tag	p.E191*	HRH3_ENST00000317393.6_Nonsense_Mutation_p.E191*	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	191					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TAGAAGAACTCGGCATAGCAG	0.582000													17	46					5.03518e-11	6.54141e-11	0.557998	1	0
SRD5A2	6716	broad.mit.edu	37	2	31758810	31758810	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:31758810C>A	ENST00000405650.1	-	0	473				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AGGCCTCCCTCGATTGAGCAG	0.458000													3	12					0.00024832	0.000265497	0.150653	1	0
C17orf74	201243	broad.mit.edu	37	17	7329951	7329951	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:7329951C>T	ENST00000333870.3	+	3	715	c.641C>T	c.(640-642)tCc>tTc	p.S214F	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.L101L	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	214						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GGCCTGCCCTCCAATGTGGGG	0.637000													24	27					0	0	0.624587	0	0
CEP164	22897	broad.mit.edu	37	11	117258085	117258085	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:117258085G>A	ENST00000278935.3	+	15	2038	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	631	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGAGGAGGAAGAGGAGATCCT	0.577000													29	69					0	0	0.750413	0	0
UQCRC1	7384	broad.mit.edu	37	3	48638155	48638155	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:48638155C>T	ENST00000203407.5	-	9	1501	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	362					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GATTTTCATTCGGTCACAGAC	0.537000													21	114					0	0	0.667858	0	0
TMEM207	131920	broad.mit.edu	37	3	190147466	190147466	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:190147466G>T	ENST00000354905.2	-	5	425	c.359C>A	c.(358-360)cCt>cAt	p.P120H		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	120						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		ATATAGGTCAGGGGTTTGAGT	0.423000													64	87					5.72486e-32	1.03385e-31	0.870114	1	0
CFLAR	8837	broad.mit.edu	37	2	201994742	201994742	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:201994742G>T	ENST00000395148.2	+	2	366	c.154G>T	c.(154-156)Gtc>Ttc	p.V52F	CFLAR_ENST00000341222.6_Missense_Mutation_p.V52F|CFLAR_ENST00000457277.1_Missense_Mutation_p.V52F|CFLAR_ENST00000309955.2_Missense_Mutation_p.V52F|CFLAR_ENST00000423241.2_Missense_Mutation_p.V52F|CFLAR_ENST00000440180.1_Missense_Mutation_p.V52F|CFLAR_ENST00000341582.6_Missense_Mutation_p.V52F|CFLAR_ENST00000342795.5_Missense_Mutation_p.V52F|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Missense_Mutation_p.V52F|CFLAR_ENST00000340870.5_Missense_Mutation_p.V52F			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	52	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TAAGCTGTCTGTCGGGGACTT	0.498000													33	144					1.67305e-13	2.29503e-13	0.819951	1	0
PKD1L1	168507	broad.mit.edu	37	7	47897210	47897210	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:47897210G>A	ENST00000289672.2	-	28	4633	c.4583C>T	c.(4582-4584)cCt>cTt	p.P1528L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1528	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TACCTGCCCAGGAGCTTGGCT	0.488000													18	19					0	0	0.592651	0	0
PTPRT	11122	broad.mit.edu	37	20	40727177	40727177	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:40727177C>A	ENST00000373198.3	-	28	4031	c.3796G>T	c.(3796-3798)Gcc>Tcc	p.A1266S	PTPRT_ENST00000373201.1_Missense_Mutation_p.A1234S|PTPRT_ENST00000373187.1_Missense_Mutation_p.A1244S|PTPRT_ENST00000373184.1_Missense_Mutation_p.A1254S|PTPRT_ENST00000373190.1_Missense_Mutation_p.A1243S|PTPRT_ENST00000373193.3_Missense_Mutation_p.A1247S|PTPRT_ENST00000356100.2_Missense_Mutation_p.A1253S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1244	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGAAGGCGGCAGGCTGCTTG	0.527000													10	68					5.50884e-06	6.17229e-06	0.411799	1	0
FAT2	2196	broad.mit.edu	37	5	150885495	150885495	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:150885495G>A	ENST00000261800.5	-	23	12693	c.12681C>T	c.(12679-12681)ccC>ccT	p.P4227P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4227					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGGGGAAGGGGAAGCCCC	0.642000													63	74					0	0	0.870114	0	0
ZNF443	10224	broad.mit.edu	37	19	12542043	12542043	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:12542043C>A	ENST00000301547.5	-	4	1140	c.943G>T	c.(943-945)Ggg>Tgg	p.G315W	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	315					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AAGGCTTTCCCACATTGTTTA	0.423000													30	71					3.11337e-16	4.55406e-16	0.769981	1	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392343	22392343	+	RNA	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:22392343C>T	ENST00000390440.2	+	0	105																											TGAAGGTGGTCACAGCTTCAC	0.428000													6	24					0	0	0.307466	0	0
TBX20	57057	broad.mit.edu	37	7	35280585	35280585	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:35280585G>T	ENST00000408931.3	-	5	1245	c.719C>A	c.(718-720)aCa>aAa	p.T240K		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	240						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CAATGAGGCTGTGTGGTCTTT	0.388000													15	24					1.99824e-07	2.32792e-07	0.520397	1	0
ZDHHC6	64429	broad.mit.edu	37	10	114192139	114192139	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:114192139A>T	ENST00000369405.3	-	9	1509	c.1086T>A	c.(1084-1086)ggT>ggA	p.G362G	ZDHHC6_ENST00000369404.3_Silent_p.G358G|ZDHHC6_ENST00000482410.1_5'UTR	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	362						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CTTACCGTAAACCTCTTGTGG	0.358000													7	121					0	0	0.278610	0	0
ACSBG2	81616	broad.mit.edu	37	19	6156446	6156446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:6156446C>A	ENST00000588304.1	+	5	687	c.241C>A	c.(241-243)Ctt>Att	p.L81I	ACSBG2_ENST00000591403.1_Missense_Mutation_p.L131I|ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000252669.5_Missense_Mutation_p.L131I|ACSBG2_ENST00000586696.1_Missense_Mutation_p.L131I			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	131					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCCAGGGGTCTTTGTGTTGG	0.438000													24	111					9.22233e-05	0.00010024	0.681144	1	0
LOC645166	645166	broad.mit.edu	37	1	148932853	148932853	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:148932853G>T	ENST00000539543.1	+	0	109					NR_027355.1																						GCTGCATCCAGTACCAAGAGT	0.612000													25	181					1.17739e-12	1.58086e-12	0.693898	1	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212080	90212080	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:90212080C>A	ENST00000390277.2	+	0	269																											CTGGTACCAGCAGAAACCTGG	0.597000													16	16					8.10497e-08	9.53841e-08	0.592651	1	0
MPDZ	8777	broad.mit.edu	37	9	13114006	13114006	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:13114006G>T	ENST00000319217.7	-	41	5728	c.5481C>A	c.(5479-5481)agC>agA	p.S1827R	MPDZ_ENST00000538841.1_Missense_Mutation_p.S686R|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1798R|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1841R|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1794R|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1827R|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1798R|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1765R|MPDZ_ENST00000541093.1_Missense_Mutation_p.S61R	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1827	Ser-rich.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAGATGACAGGCTGCCTTCAC	0.358000													8	9					3.09899e-07	3.59534e-07	0.307466	1	0
HOXA6	3203	broad.mit.edu	37	7	27186946	27186946	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:27186946C>A	ENST00000222728.3	-	1	447	c.423G>T	c.(421-423)caG>caT	p.Q141H	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518947.2_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	141						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						AGTTCATCCGCTGCATCCAAG	0.557000													48	91					5.19286e-32	9.39501e-32	0.870114	1	0
AMHR2	269	broad.mit.edu	37	12	53819601	53819601	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:53819601A>T	ENST00000257863.4	+	6	830	c.750A>T	c.(748-750)ccA>ccT	p.P250P	AMHR2_ENST00000550311.1_Silent_p.P250P|AMHR2_ENST00000379791.3_Silent_p.P250P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	250	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.P250P(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	ACGAACTTCCAGGCCTACAGC	0.597000													49	29					0	0	0.870114	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596806	142596806	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:142596806G>T	ENST00000370503.2	-	2	347	c.264C>A	c.(262-264)ggC>ggA	p.G88G	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	88										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAGTCTACGCCTTCGTCCT	0.428000													60	33					8.07507e-42	1.52711e-41	0.870114	1	0
SPTA1	6708	broad.mit.edu	37	1	158581117	158581117	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:158581117C>A	ENST00000368148.3	-	52	7377	c.7197G>T	c.(7195-7197)cgG>cgT	p.R2399R	SPTA1_ENST00000368147.3_Silent_p.R2396R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2399					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCTTCGACCCCGTGGGTCCA	0.443000													16	50					2.4624e-09	3.02105e-09	0.575678	1	0
POU3F2	5454	broad.mit.edu	37	6	99282917	99282917	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:99282917C>A	ENST00000328345.5	+	1	338	c.168C>A	c.(166-168)agC>agA	p.S56R		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	56					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		ACCCGCTCAGCCACGCTCACC	0.806000													3	15					0.00909568	0.00932367	0.150653	1	0
CENPU	79682	broad.mit.edu	37	4	185646144	185646144	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:185646144G>A	ENST00000281453.5	-	4	357	c.287C>T	c.(286-288)tCt>tTt	p.S96F	MLF1IP_ENST00000541971.1_Missense_Mutation_p.S96F	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		96					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		AGGAGTTGAAGAGAGAGACAG	0.358000													15	93					0	0	0.608945	0	0
OR4D10	390197	broad.mit.edu	37	11	59245365	59245365	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:59245365C>T	ENST00000530162.1	+	1	520	c.463C>T	c.(463-465)Cac>Tac	p.H155Y		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGGCTTTGTCCACTCCATCGT	0.542000													50	111					0	0	0.870114	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490203	37490203	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:37490203C>A	ENST00000374660.1	+	37	3107	c.3008C>A	c.(3007-3009)cCc>cAc	p.P1003H	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P884H|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P884H			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1027						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGTGTGTACCCAAGGCTACA	0.303000													30	60					6.97489e-18	1.05321e-17	0.804634	1	0
RGS7	6000	broad.mit.edu	37	1	241031894	241031894	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:241031894C>A	ENST00000366565.1	-	9	983	c.602G>T	c.(601-603)aGg>aTg	p.R201M	RGS7_ENST00000348120.2_Missense_Mutation_p.R148M|RGS7_ENST00000331110.7_Missense_Mutation_p.R175M|RGS7_ENST00000401882.1_Missense_Mutation_p.R148M|RGS7_ENST00000366564.1_Missense_Mutation_p.R201M|RGS7_ENST00000446183.2_Missense_Mutation_p.R117M|RGS7_ENST00000366562.4_Missense_Mutation_p.R201M|RGS7_ENST00000407727.1_Missense_Mutation_p.R201M|RGS7_ENST00000366563.1_Missense_Mutation_p.R201M	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	201					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TACCACGGGCCTGTGCACGTC	0.498000													14	59					2.32078e-09	2.85088e-09	0.479597	1	0
BIN2	51411	broad.mit.edu	37	12	51685715	51685715	+	Missense_Mutation	SNP	C	C	G	rs146877980		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:51685715C>G	ENST00000267012.4	-	10	1236	c.1175G>C	c.(1174-1176)cGc>cCc	p.R392P	BIN2_ENST00000544402.1_Missense_Mutation_p.R366P|BIN2_ENST00000604560.1_Missense_Mutation_p.R365P|BIN2_ENST00000452142.2_Missense_Mutation_p.R360P	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	392						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						ACTTGCGGTGCGGGTTCGGAG	0.587000													39	36					0	0	0.840704	0	0
OPCML	4978	broad.mit.edu	37	11	132812898	132812898	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:132812898G>T	ENST00000331898.7	-	1	668	c.90C>A	c.(88-90)ccC>ccA	p.P30P	OPCML_ENST00000541867.1_Silent_p.P30P|OPCML_ENST00000374778.4_5'UTR|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000524381.1_Silent_p.P23P	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	30					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CGCTGCGCACGGGCACTCCTG	0.642000													22	48					4.3181e-19	6.6691e-19	0.769981	1	0
CSMD1	64478	broad.mit.edu	37	8	4494864	4494864	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:4494864C>A	ENST00000520002.1	-	2	857	c.302_splice	c.e2+1	p.R101_splice	CSMD1_ENST00000539096.1_Splice_Site_p.R101_splice|CSMD1_ENST00000400186.3_Splice_Site_p.R101_splice|CSMD1_ENST00000602723.1_Splice_Site_p.R101_splice|CSMD1_ENST00000602557.1_Splice_Site_p.R101_splice|CSMD1_ENST00000537824.1_Splice_Site_p.R101_splice|CSMD1_ENST00000542608.1_Splice_Site_p.R101_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	101	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATACCTTACCTCACTTTTAA	0.318000													46	51					1.44036e-42	2.74508e-42	0.870114	1	0
PAK4	10298	broad.mit.edu	37	19	39667262	39667262	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:39667262G>T	ENST00000599386.1	+	7	1114	c.933G>T	c.(931-933)caG>caT	p.Q311H	PAK4_ENST00000358301.3_Missense_Mutation_p.Q464H|PAK4_ENST00000435673.2_Missense_Mutation_p.Q464H|PAK4_ENST00000599470.1_Missense_Mutation_p.Q311H|PAK4_ENST00000321944.4_Missense_Mutation_p.Q374H|PAK4_ENST00000360442.3_Missense_Mutation_p.Q464H|PAK4_ENST00000593690.1_Missense_Mutation_p.Q464H	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	464	GEF-interaction domain (GID).|Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TCTGCGCCCAGGTGAGCAAGG	0.662000													46	145					1.27862e-28	2.25106e-28	0.870114	1	0
IFNA21	3452	broad.mit.edu	37	9	21166255	21166255	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:21166255C>T	ENST00000380225.1	-	1	404	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	119			L -> M (in dbSNP:rs1053885).		blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CGCAGGCTTCCAGGTCATTCA	0.468000													119	74					0	0	0.870114	0	0
IZUMO1	284359	broad.mit.edu	37	19	49245054	49245054	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:49245054T>A	ENST00000332955.2	-	8	1293	c.746A>T	c.(745-747)cAc>cTc	p.H249L		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	249	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ACCTGTGACGTGAAAATTGAT	0.637000													6	8					0	0	0.248553	0	0
KIF5A	3798	broad.mit.edu	37	12	57966430	57966430	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:57966430G>A	ENST00000455537.2	+	15	1911	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R457Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	546					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAGCGAAAACGAATTGCTGAG	0.572000													22	126					0	0	0.639603	0	0
NEB	4703	broad.mit.edu	37	2	152484098	152484098	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:152484098G>A	ENST00000397345.3	-	69	10284	c.10082C>T	c.(10081-10083)aCg>aTg	p.T3361M	NEB_ENST00000409198.1_Missense_Mutation_p.T3118M|NEB_ENST00000172853.10_Missense_Mutation_p.T3118M|NEB_ENST00000604864.1_Missense_Mutation_p.T3361M|NEB_ENST00000427231.2_Missense_Mutation_p.T3361M|NEB_ENST00000603639.1_Missense_Mutation_p.T3361M	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3361					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGCAGGCACGTCCACTCGTG	0.517000													65	249					0	0	0.870114	0	0
CHRNA1	1134	broad.mit.edu	37	2	175624295	175624295	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:175624295C>T	ENST00000348749.5	-	2	187	c.110G>A	c.(109-111)aGc>aAc	p.S37N	CHRNA1_ENST00000409323.1_Missense_Mutation_p.S37N|CHRNA1_ENST00000409219.1_Missense_Mutation_p.S37N|CHRNA1_ENST00000409542.1_Missense_Mutation_p.S37N|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.S37N	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	37					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CCGCACCACGCTGCTGTAGTC	0.577000													43	161					0	0	0.864702	0	0
TRPC4	7223	broad.mit.edu	37	13	38229321	38229321	+	Silent	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:38229321A>G	ENST00000379705.3	-	7	2645	c.1788T>C	c.(1786-1788)gtT>gtC	p.V596V	TRPC4_ENST00000355779.2_Silent_p.V596V|TRPC4_ENST00000358477.2_Silent_p.V596V|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Silent_p.V596V|TRPC4_ENST00000379679.1_Silent_p.V423V|TRPC4_ENST00000447043.1_Silent_p.V596V|TRPC4_ENST00000338947.5_Silent_p.V423V|TRPC4_ENST00000379681.3_Silent_p.V596V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	596					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGGTGGCACCAACAAACTCAG	0.378000													19	22					0	0	0.639603	0	0
TMEM8A	58986	broad.mit.edu	37	16	422611	422611	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:422611C>A	ENST00000431232.2	-	12	2179	c.2019_splice	c.e12+1	p.W673_splice	TMEM8A_ENST00000250930.3_Splice_Site_p.W480_splice	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	673					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGCTCCTTACCCACATGGAGG	0.622000													41	48					2.77807e-22	4.5369e-22	0.864702	1	0
DST	667	broad.mit.edu	37	6	56351960	56351960	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:56351960C>A	ENST00000370754.5	-	87	20895	c.20896G>T	c.(20896-20898)Gac>Tac	p.D6966Y	DST_ENST00000446842.2_Missense_Mutation_p.D6462Y|DST_ENST00000244364.6_Missense_Mutation_p.D4374Y|DST_ENST00000370769.4_Missense_Mutation_p.D6788Y|DST_ENST00000361203.3_Missense_Mutation_p.D6677Y|DST_ENST00000370788.2_Missense_Mutation_p.D4591Y|DST_ENST00000421834.2_Missense_Mutation_p.D4700Y|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6786					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCAGCATGTCATCCAGTTTC	0.453000													15	64					2.23348e-06	2.53137e-06	0.500413	1	0
LRRTM3	347731	broad.mit.edu	37	10	68687890	68687890	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:68687890C>A	ENST00000361320.4	+	2	1794	c.1216C>A	c.(1216-1218)Cca>Aca	p.P406T	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	406						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGAGCCCGGCCCAGAGACCGA	0.607000													20	32					6.44725e-10	8.05086e-10	0.624587	1	0
TIMD4	91937	broad.mit.edu	37	5	156378585	156378585	+	Missense_Mutation	SNP	G	G	T	rs146696975		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:156378585G>T	ENST00000274532.2	-	3	673	c.617C>A	c.(616-618)cCg>cAg	p.P206Q	TIMD4_ENST00000407087.3_Missense_Mutation_p.P206Q	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	206	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCTTCCTCCGGAAGGGTGCT	0.537000													59	30					3.53049e-34	6.45885e-34	0.870114	1	0
RBBP8	5932	broad.mit.edu	37	18	20562350	20562350	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:20562350G>T	ENST00000399722.2	+	7	949	c.598G>T	c.(598-600)Gca>Tca	p.A200S	RBBP8_ENST00000360790.5_Missense_Mutation_p.A200S|RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000399725.2_Missense_Mutation_p.A200S|RBBP8_ENST00000327155.5_Missense_Mutation_p.A200S	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	200					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTCTGTGTGTGCAAATGGTAA	0.383000								Homologous recombination					51	53					3.28156e-27	5.67051e-27	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179594225	179594225	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179594225A>C	ENST00000589042.1	-	64	18882	c.18658T>G	c.(18658-18660)Tgt>Ggt	p.C6220G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C4976G|TTN_ENST00000591111.1_Missense_Mutation_p.C5903G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5903	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAACTTCACACTCCAGCTCC	0.443000													18	74					0	0	0.575678	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60243765	60243765	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:60243765G>C	ENST00000269499.5	+	14	3908	c.3490G>C	c.(3490-3492)Gca>Cca	p.A1164P	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A843P	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1164					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.A1164P(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACTGAGATACGCACCTCCCCT	0.473000													12	12					0	0	0.457914	0	0
TBC1D23	55773	broad.mit.edu	37	3	100020967	100020967	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:100020967G>T	ENST00000394144.4	+	11	1156	c.1149G>T	c.(1147-1149)caG>caT	p.Q383H	TBC1D23_ENST00000344949.5_Missense_Mutation_p.Q383H|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.Q246H	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	383	Rhodanese.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGGAAGCACAGAAGCAGTCCA	0.443000													41	52					2.24059e-37	4.16899e-37	0.870114	1	0
BMP7	655	broad.mit.edu	37	20	55746136	55746136	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:55746136G>T	ENST00000395863.3	-	7	1680	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.P326H	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	392					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCAGGGCTTGGGCACCGTTTC	0.532000													28	59					3.03874e-20	4.7912e-20	0.779181	1	0
CACNA1E	777	broad.mit.edu	37	1	181480627	181480627	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:181480627T>A	ENST00000526775.1	+	3	658	c.493T>A	c.(493-495)Ttc>Atc	p.F165I	CACNA1E_ENST00000367570.1_Missense_Mutation_p.F165I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F116I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F165I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F116I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F165I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	165					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTCATGGACTTCATCGTGGT	0.512000													15	114					0	0	0.500413	0	0
SLC6A2	6530	broad.mit.edu	37	16	55706020	55706020	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:55706020G>T	ENST00000379906.2	+	3	832	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	SLC6A2_ENST00000219833.8_Missense_Mutation_p.G193C|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G193C|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G193C|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G193C|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G193C|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G88C	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	193					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCTCCTCAATGGCTCCGTGCT	0.567000													10	49					2.80697e-09	3.43736e-09	0.387290	1	0
PIK3R2	5296	broad.mit.edu	37	19	18280081	18280081	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:18280081G>T	ENST00000593731.1	+	16	2724	c.2164G>T	c.(2164-2166)Ggc>Tgc	p.G722C	PIK3R2_ENST00000222254.7_Missense_Mutation_p.G722C			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	722					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						cccgggccccggcccgccgcc	0.771000													3	0					0.004672	0.0048371	0.115264	1	0
NCAM1	4684	broad.mit.edu	37	11	113111531	113111531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:113111531C>A	ENST00000401611.2	+	16	1861	c.1861C>A	c.(1861-1863)Cct>Act	p.P621T	NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000533760.1_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	715	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTCGTCTACCCCTGTTCCATT	0.423000													67	191					5.2429e-30	9.31386e-30	0.870114	1	0
KCNS2	3788	broad.mit.edu	37	8	99441239	99441239	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:99441239C>A	ENST00000287042.4	+	2	1382	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	KCNS2_ENST00000521839.1_Silent_p.S344S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	344						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCATCTTCTCCGTGGTGGCCT	0.582000													17	83					2.48551e-13	3.39294e-13	0.520397	1	0
NXF4	55999	broad.mit.edu	37	X	101818239	101818239	+	RNA	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:101818239G>A	ENST00000360035.2	+	0	829					NR_002216.1															endometrium(2)|lung(8)	10						GGGCAAGTAGGGGCAGAGCAG	0.542000													40	26					0	0	0.853193	0	0
BMP6	654	broad.mit.edu	37	6	7862668	7862668	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:7862668C>A	ENST00000283147.6	+	4	1300	c.1141C>A	c.(1141-1143)Cga>Aga	p.R381R		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	381					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAGCCGGCGCCGACAACAGAG	0.607000													47	38					2.47907e-22	4.05196e-22	0.870114	1	0
PSPH	5723	broad.mit.edu	37	7	56079563	56079563	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:56079563C>A	ENST00000395471.3	-	8	1376		c.e8-1		PSPH_ENST00000459834.1_Splice_Site|PSPH_ENST00000275605.3_Splice_Site			P78330	SERB_HUMAN	phosphoserine phosphatase						L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAAAGCATCCTAAGAAGGAA	0.388000													10	91					2.74318e-10	3.47859e-10	0.335167	1	0
SRRM4	84530	broad.mit.edu	37	12	119568484	119568484	+	Splice_Site	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:119568484C>T	ENST00000267260.4	+	8	1004	c.614_splice	c.e8-1	p.H206_splice	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	206	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CATCCCCAGGCACCGCGGCCG	0.612000													4	26					0	0	0.150653	0	0
ZNF443	10224	broad.mit.edu	37	19	12541846	12541846	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:12541846C>T	ENST00000301547.5	-	4	1337	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	380					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CATGACTTTGCAGTGAACTAG	0.408000													41	130					0	0	0.853193	0	0
CLCN1	1180	broad.mit.edu	37	7	143039136	143039136	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:143039136C>T	ENST00000343257.2	+	15	1784	c.1697C>T	c.(1696-1698)gCc>gTc	p.A566V		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	566					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTTATCTTGGCCAACATGGTG	0.542000													55	75					0	0	0.870114	0	0
TRIM49	57093	broad.mit.edu	37	11	89537462	89537462	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:89537462G>A	ENST00000329758.1	-	3	504	c.176C>T	c.(175-177)aCc>aTc	p.T59I	TRIM49_ENST00000532501.2_Missense_Mutation_p.T59I	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	59						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TATCTGCTCGGTTGACTTTGT	0.463000													9	61					0	0	0.457914	0	0
ITPR3	3710	broad.mit.edu	37	6	33638232	33638232	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:33638232C>T	ENST00000374316.5	+	20	3380	c.2320C>T	c.(2320-2322)Cgc>Tgc	p.R774C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R774C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	774					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTTTGACCTGCGCGCCTCCTT	0.622000													73	180					0	0	0.870114	0	0
THBS2	7058	broad.mit.edu	37	6	169626277	169626277	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:169626277G>C	ENST00000366787.3	-	17	2785	c.2536C>G	c.(2536-2538)Cag>Gag	p.Q846E	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	846					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCCCTCACCTGGTCAGGGTTG	0.627000													46	61					0	0	0.870114	0	0
LRCH2	57631	broad.mit.edu	37	X	114357643	114357643	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:114357643G>T	ENST00000317135.8	-	18	1992	c.1962_splice	c.e18+1	p.N654_splice	LRCH2_ENST00000538422.1_Splice_Site_p.N637_splice	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	654	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TCTGACTTACGTTGCGAAGTT	0.398000													4	5					0.150653	0.151814	0.150653	1	0
TGM6	343641	broad.mit.edu	37	20	2398110	2398110	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:2398110G>T	ENST00000202625.2	+	10	1630	c.1569G>T	c.(1567-1569)cgG>cgT	p.R523R	TGM6_ENST00000381423.1_Silent_p.R523R	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	523					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCACCTCCCGGGCCCAGCGGG	0.647000													13	25					1.61879e-10	2.06612e-10	0.411799	1	0
RYR3	6263	broad.mit.edu	37	15	33895366	33895366	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:33895366C>G	ENST00000389232.4	+	18	2035	c.1965C>G	c.(1963-1965)gcC>gcG	p.A655A	RYR3_ENST00000415757.3_Silent_p.A655A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	655	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGGCTCAGCCCAGTACAAGA	0.537000													10	141					0	0	0.479597	0	0
SCOC	60592	broad.mit.edu	37	4	141302138	141302138	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:141302138A>T	ENST00000394203.3	+	4	427	c.249A>T	c.(247-249)gcA>gcT	p.A83A	SCOC_ENST00000506322.1_Silent_p.A43A|SCOC_ENST00000502535.1_Silent_p.A43A|SCOC_ENST00000394205.3_Silent_p.A83A|SCOC_ENST00000506597.1_Silent_p.A92A|SCOC_ENST00000512749.1_Silent_p.A43A|SCOC_ENST00000394201.3_Silent_p.A120A|SCOC_ENST00000338517.4_Silent_p.A83A	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	120						Golgi apparatus|nucleus	protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					GAGTAGATGCAGTTAAGGAAG	0.294000													8	35					0	0	0.361761	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325015	150325015	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:150325015C>A	ENST00000328902.5	-	3	887	c.671G>T	c.(670-672)tGg>tTg	p.W224L	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	224							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCGTTTTCCCACATAATGGC	0.512000													49	108					3.93605e-18	5.98024e-18	0.870114	1	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994433	45994433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:45994433C>A	ENST00000400374.3	+	1	828	c.798C>A	c.(796-798)tgC>tgA	p.C266*	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	266	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCTCTCCCTGCCAGCAGGCTT	0.617000													48	141					1.56989e-16	2.32757e-16	0.870114	1	0
TEX15	56154	broad.mit.edu	37	8	30699851	30699851	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:30699851T>C	ENST00000256246.2	-	1	6757	c.6683A>G	c.(6682-6684)cAc>cGc	p.H2228R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2228										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTCCTAATGTGGGCCATTTT	0.358000													58	48					0	0	0.870114	0	0
ATG2A	23130	broad.mit.edu	37	11	64673642	64673642	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:64673642C>G	ENST00000421419.2	-	22	3321	c.3207G>C	c.(3205-3207)ttG>ttC	p.L1069F	ATG2A_ENST00000377264.3_Missense_Mutation_p.L1069F			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1069							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGCTTTGTGCAACCGCAGTG	0.677000													4	16					0	0	0.150653	0	0
BBX	56987	broad.mit.edu	37	3	107493684	107493684	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:107493684A>G	ENST00000416476.2	+	11	1245	c.1025A>G	c.(1024-1026)cAa>cGa	p.Q342R	BBX_ENST00000406780.1_Silent_p.P678P|BBX_ENST00000402543.1_Silent_p.P678P|BBX_ENST00000415149.2_Silent_p.P678P|BBX_ENST00000325805.8_Silent_p.P678P			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGACAAAGCCAAAAGAAGACT	0.463000													23	28					0	0	0.729181	0	0
TP53I11	9537	broad.mit.edu	37	11	44956553	44956553	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:44956553A>G	ENST00000533940.1	-	10	1056	c.452T>C	c.(451-453)cTa>cCa	p.L151P	TP53I11_ENST00000525680.1_Missense_Mutation_p.L151P|TP53I11_ENST00000308212.5_Missense_Mutation_p.L151P|TP53I11_ENST00000395648.3_Missense_Mutation_p.L151P	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	151					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CGTCTCAGCTAGCGTGGCAGT	0.617000													42	55					0	0	0.870114	0	0
XIRP2	129446	broad.mit.edu	37	2	168104896	168104896	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:168104896G>A	ENST00000409195.1	+	9	7083	c.6994G>A	c.(6994-6996)Gag>Aag	p.E2332K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2110K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2332K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2157					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTGTCCACAGAGAAGATAAA	0.423000													26	126					0	0	0.706142	0	0
PFKFB4	5210	broad.mit.edu	37	3	48587628	48587628	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:48587628C>T	ENST00000232375.3	-	2	249	c.137G>A	c.(136-138)gGc>gAc	p.G46D	PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_Missense_Mutation_p.G46D|PFKFB4_ENST00000541519.1_Missense_Mutation_p.G12D|PFKFB4_ENST00000536104.1_Missense_Mutation_p.G35D|PFKFB4_ENST00000416568.1_Missense_Mutation_p.G46D|PFKFB4_ENST00000383734.2_Missense_Mutation_p.G46D	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	46	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGCGGGCAGGCCCACCATGAC	0.597000													33	46					0	0	0.804634	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203606	84203606	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:84203606C>A	ENST00000378553.5	+	8	1296	c.1172C>A	c.(1171-1173)cCg>cAg	p.P391Q	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.P391Q	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	391	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GAGCTCTGCCCGGAAAAGCCA	0.582000													9	25					5.4927e-09	6.63927e-09	0.307466	1	0
MBD5	55777	broad.mit.edu	37	2	149247345	149247345	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:149247345A>T	ENST00000407073.1	+	12	4442	c.3445A>T	c.(3445-3447)Atg>Ttg	p.M1149L	MBD5_ENST00000404807.1_Missense_Mutation_p.M1382L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1149						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGACGGAACATGGGAGGTGT	0.512000													32	54					0	0	0.788014	0	0
NBAS	51594	broad.mit.edu	37	2	15607801	15607801	+	Missense_Mutation	SNP	C	C	G	rs142006451		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:15607801C>G	ENST00000281513.5	-	18	2030	c.2005G>C	c.(2005-2007)Gtg>Ctg	p.V669L	NBAS_ENST00000441750.1_Missense_Mutation_p.V669L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	669										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAAAAGTTCACTAATTTCAGT	0.338000													8	12					0	0	0.361761	0	0
DLEC1	9940	broad.mit.edu	37	3	38103700	38103700	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:38103700T>A	ENST00000308059.6	+	4	735	c.714T>A	c.(712-714)tgT>tgA	p.C238*	DLEC1_ENST00000452631.2_Nonsense_Mutation_p.C238*|DLEC1_ENST00000346219.3_Nonsense_Mutation_p.C238*			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	238					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATTTAGCTGTGAGAAGCGTT	0.463000													40	21					0	0	0.847076	0	0
HOXA11	3207	broad.mit.edu	37	7	27224354	27224354	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:27224354G>T	ENST00000006015.3	-	1	481	c.410C>A	c.(409-411)cCa>cAa	p.P137Q	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	137					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GAAAGCCTGTGGCAGGACGCC	0.652000			T	NUP98	CML								48	64					4.46115e-38	8.34023e-38	0.870114	1	0
SYNGR4	23546	broad.mit.edu	37	19	48876806	48876806	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:48876806G>A	ENST00000344846.2	+	3	376	c.126G>A	c.(124-126)ctG>ctA	p.L42L	SYNGR4_ENST00000595322.1_5'UTR|SYNGR4_ENST00000601610.1_5'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	42	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCTCCCTGCTGACCGACGGCT	0.597000													16	62					0	0	0.575678	0	0
DCHS2	54798	broad.mit.edu	37	4	155156611	155156611	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:155156611C>A	ENST00000357232.3	-	25	7827	c.7828G>T	c.(7828-7830)Gtg>Ttg	p.V2610L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2610					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V2610M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGCATCCACAGGGACCACC	0.483000													32	80					1.49673e-21	2.41024e-21	0.819951	1	0
FBN3	84467	broad.mit.edu	37	19	8137013	8137013	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:8137013C>G	ENST00000600128.1	-	63	8421	c.8007G>C	c.(8005-8007)tcG>tcC	p.S2669S	FBN3_ENST00000270509.2_Silent_p.S2669S|FBN3_ENST00000601739.1_Silent_p.S2669S			Q75N90	FBN3_HUMAN	fibrillin 3	2669						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGCTTCAGACGAGAGCAGCT	0.652000													23	142					0	0	0.693898	0	0
LYZL2	119180	broad.mit.edu	37	10	30915808	30915808	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:30915808G>A	ENST00000375318.2	-	2	231	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	13					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CCTGTGACCAGGCAGCCAATG	0.537000													11	42					0	0	0.608945	0	0
PCNT	5116	broad.mit.edu	37	21	47850466	47850466	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:47850466G>A	ENST00000359568.5	+	37	8066	c.7959G>A	c.(7957-7959)caG>caA	p.Q2653Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2653					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCGCGCTTCAGGAGCTGGAGA	0.637000													5	2					0	0	0.248553	0	0
MYH1	4619	broad.mit.edu	37	17	10404000	10404000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:10404000G>A	ENST00000226207.5	-	28	3902	c.3808C>T	c.(3808-3810)Cag>Tag	p.Q1270*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1270						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCCGCTGCTGCTCCTCTTCC	0.488000													20	95					0	0	0.624587	0	0
NBAS	51594	broad.mit.edu	37	2	15679433	15679433	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:15679433C>G	ENST00000281513.5	-	7	452	c.427G>C	c.(427-429)Gat>Cat	p.D143H	NBAS_ENST00000441750.1_Missense_Mutation_p.D143H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	143										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGGGTACAATCGTAACTCCAT	0.443000													29	46					0	0	0.779181	0	0
FBN2	2201	broad.mit.edu	37	5	127800460	127800460	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:127800460G>C	ENST00000508053.1	-	12	1757	c.783C>G	c.(781-783)tgC>tgG	p.C261W	FBN2_ENST00000262464.4_Missense_Mutation_p.C261W|FBN2_ENST00000508989.1_Missense_Mutation_p.C228W			P35556	FBN2_HUMAN	fibrillin 2	261	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACCCCGTCGGCAGGGCTGAG	0.592000													65	61					0	0	0.870114	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438486	204438486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:204438486C>A	ENST00000367187.3	-	3	1001	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G149C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	149	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTGCAAGAGCCCTCTATGTCC	0.572000													8	30					2.17888e-05	2.40289e-05	0.335167	1	0
CD300A	11314	broad.mit.edu	37	17	72462878	72462878	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:72462878C>A	ENST00000360141.3	+	1	324	c.36C>A	c.(34-36)gtC>gtA	p.V12V	CD300A_ENST00000392625.3_Silent_p.V12V|CD300A_ENST00000361933.3_Silent_p.V12V|CD300A_ENST00000310828.5_Silent_p.V12V	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	12					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTCTCTGGGTCCCAGGTGAGA	0.662000													6	11					0.00198382	0.0020714	0.248553	1	0
PDCL2	132954	broad.mit.edu	37	4	56448285	56448285	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:56448285C>A	ENST00000295645.4	-	2	228	c.127_splice	c.e2+1	p.M42_splice		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	42										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			CGACCATACCCATTGCTTCTT	0.358000													9	43					0.00829132	0.00854824	0.361761	1	0
APLNR	187	broad.mit.edu	37	11	57003841	57003841	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:57003841G>C	ENST00000606794.1	-	1	834	c.638C>G	c.(637-639)cCc>cGc	p.P213R		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	213						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GATGGTGAAGGGCACCACAAA	0.622000													33	105					0	0	0.840704	0	0
PHLDB3	653583	broad.mit.edu	37	19	44005998	44005998	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:44005998C>T	ENST00000292140.5	-	4	782	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PHLDB3_ENST00000599242.1_Missense_Mutation_p.R141Q	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	141										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CAGCTCACCCCGCAGCAAGGC	0.716000													3	8					0	0	0.184627	0	0
YTHDC2	64848	broad.mit.edu	37	5	112917375	112917375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:112917375G>T	ENST00000161863.4	+	25	3829	c.3616G>T	c.(3616-3618)Gaa>Taa	p.E1206*		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1206							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGCAGATACTGAATTTTCTGA	0.363000													7	13					1.08611e-07	1.27134e-07	0.387290	1	0
SAMSN1	64092	broad.mit.edu	37	21	15882746	15882746	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:15882746C>A	ENST00000285670.2	-	6	824	c.650G>T	c.(649-651)cGg>cTg	p.R217L	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.R149L	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	149	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		AAAGCTGTCCCGGTTACTTGT	0.478000													32	41					6.29468e-14	8.76345e-14	0.804634	1	0
SLIT2	9353	broad.mit.edu	37	4	20620524	20620524	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:20620524G>T	ENST00000504154.1	+	37	4734	c.4482G>T	c.(4480-4482)ccG>ccT	p.P1494P	SLIT2_ENST00000503823.1_Silent_p.P1486P|SLIT2_ENST00000503837.1_Silent_p.P1490P|SLIT2_ENST00000273739.5_Silent_p.P1507P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1494	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCTGTGGACCGCTGAGGAGCA	0.552000													4	29					0.00024832	0.000265497	0.150653	1	0
ZNF222	7673	broad.mit.edu	37	19	44536945	44536945	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:44536945A>T	ENST00000187879.8	+	4	1280	c.1118A>T	c.(1117-1119)aAc>aTc	p.N373I	ZNF222_ENST00000391960.3_Missense_Mutation_p.N413I|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AACTGTGATAACTGCGGGAAG	0.428000													25	61					0	0	0.681144	0	0
STAB2	55576	broad.mit.edu	37	12	104131469	104131469	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:104131469G>C	ENST00000388887.2	+	53	5812	c.5608G>C	c.(5608-5610)Gac>Cac	p.D1870H		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1870	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCTCTTGTTTGACCTGGGTGT	0.483000													23	113					0	0	0.750413	0	0
COL6A3	1293	broad.mit.edu	37	2	238243382	238243382	+	Missense_Mutation	SNP	G	G	T	rs116655315	by1000genomes	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:238243382G>T	ENST00000295550.4	-	41	9568	c.9116C>A	c.(9115-9117)aCg>aAg	p.T3039K	COL6A3_ENST00000353578.4_Missense_Mutation_p.T2833K|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2839K|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2432K|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2838K|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2833K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3039	Fibronectin type-III.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCCGTGACCGTGAGGTTCTG	0.587000													20	49					5.35356e-11	6.93208e-11	0.639603	1	0
HOXA3	3200	broad.mit.edu	37	7	27147795	27147795	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:27147795G>T	ENST00000396352.4	-	3	1270	c.1071C>A	c.(1069-1071)acC>acA	p.T357T	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.T357T	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	357					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTATGTGTGGGGTCCCATAGC	0.677000													7	22					0.00198382	0.0020714	0.248553	1	0
PXDNL	137902	broad.mit.edu	37	8	52387552	52387552	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:52387552G>T	ENST00000356297.4	-	7	774	c.674C>A	c.(673-675)aCa>aAa	p.T225K	PXDNL_ENST00000543296.1_Missense_Mutation_p.T225K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	225	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTCCTCTACTGTTACTGAAGC	0.438000													4	5					0.00909568	0.00932367	0.150653	1	0
NINL	22981	broad.mit.edu	37	20	25443148	25443148	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:25443148C>A	ENST00000278886.6	-	20	3526	c.3453G>T	c.(3451-3453)caG>caT	p.Q1151H	NINL_ENST00000422516.1_Missense_Mutation_p.Q802H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1151					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGACATTGAGCTGGGATAATT	0.403000													17	83					3.51602e-12	4.66978e-12	0.575678	1	0
ZNF556	80032	broad.mit.edu	37	19	2877519	2877519	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:2877519C>A	ENST00000586426.1	+	4	647	c.560C>A	c.(559-561)tCc>tAc	p.S187Y	ZNF556_ENST00000307635.2_Missense_Mutation_p.S188Y			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCGCCCTTCCTACCTACAG	0.453000													24	53					2.32416e-17	3.49603e-17	0.624587	1	0
TTN	7273	broad.mit.edu	37	2	179441817	179441817	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179441817G>T	ENST00000589042.1	-	324	69469	c.69245C>A	c.(69244-69246)aCc>aAc	p.T23082N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T14142N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T14017N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T14209N|TTN_ENST00000342992.6_Missense_Mutation_p.T20514N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T21441N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21441	Ig-like 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCGGCTGGTTTCTCTCTT	0.433000													12	53					0.000151284	0.000163441	0.435327	1	0
PLA2G6	8398	broad.mit.edu	37	22	38522389	38522389	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:38522389G>A	ENST00000332509.3	-	10	1599	c.1416C>T	c.(1414-1416)gaC>gaT	p.D472D	PLA2G6_ENST00000402064.1_Silent_p.D418D|PLA2G6_ENST00000490473.1_5'UTR|PLA2G6_ENST00000335539.3_Silent_p.D418D	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	472					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TCCGCTTCTCGTCCCTCATGG	0.612000													7	92					0	0	0.248553	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793808	65793808	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:65793808C>T	ENST00000312106.5	-	1	180	c.43G>A	c.(43-45)Gac>Aac	p.D15N		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	15					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TTATTGGTGTCTGCCTCATTC	0.547000													43	111					0	0	0.870114	0	0
ATP2A2	488	broad.mit.edu	37	12	110780131	110780131	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:110780131G>T	ENST00000395494.2	+	14	2678	c.2115G>T	c.(2113-2115)atG>atT	p.M705I	ATP2A2_ENST00000308664.6_Missense_Mutation_p.M732I|ATP2A2_ENST00000539276.2_Missense_Mutation_p.M732I			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	732					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCTCTGAGATGGTCCTGGCGG	0.552000													86	41					1.63053e-22	2.67396e-22	0.870114	1	0
UPB1	51733	broad.mit.edu	37	22	24896177	24896177	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:24896177C>A	ENST00000326010.5	+	2	551	c.207C>A	c.(205-207)ccC>ccA	p.P69P	UPB1_ENST00000413389.2_Intron|UPB1_ENST00000382760.2_Silent_p.P69P	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	69					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TGAGACGACCCCGCATTGTGC	0.542000													16	75					6.49762e-13	8.76018e-13	0.539581	1	0
HRH1	3269	broad.mit.edu	37	3	11301701	11301701	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:11301701G>T	ENST00000397056.1	+	3	1169	c.978G>T	c.(976-978)cgG>cgT	p.R326R	HRH1_ENST00000431010.2_Silent_p.R326R|HRH1_ENST00000438284.2_Silent_p.R326R	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	326					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCGTCAACCGGAGCCATGGCC	0.517000													91	47					1.42366e-38	2.67174e-38	0.870114	1	0
ASTN1	460	broad.mit.edu	37	1	177000010	177000010	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:177000010T>C	ENST00000367654.2	-	4	957	c.944A>G	c.(943-945)cAc>cGc	p.H315R	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.H315R|ASTN1_ENST00000367657.3_Missense_Mutation_p.H315R|ASTN1_ENST00000361833.2_Missense_Mutation_p.H315R			O14525	ASTN1_HUMAN	astrotactin 1	315					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGCTTGCTGGTGGTTGGAGTC	0.483000													29	54					0	0	0.760397	0	0
NPAP1	23742	broad.mit.edu	37	15	24922307	24922307	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:24922307C>A	ENST00000329468.2	+	1	1767	c.1293C>A	c.(1291-1293)gaC>gaA	p.D431E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACTTGGCTGACCTGGCTACTG	0.542000													31	67					3.21399e-22	5.23574e-22	0.804634	1	0
PCLO	27445	broad.mit.edu	37	7	82764123	82764123	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:82764123C>A	ENST00000423517.2	-	3	3080	c.2743G>T	c.(2743-2745)Gcc>Tcc	p.A915S	PCLO_ENST00000333891.8_Missense_Mutation_p.A915S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	861	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A915S(2)|p.A861S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTTGGGGGCATCAGTAATA	0.502000													61	73					2.93687e-30	5.23622e-30	0.870114	1	0
HTR6	3362	broad.mit.edu	37	1	19992680	19992680	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:19992680C>T	ENST00000289753.1	+	1	901	c.434C>T	c.(433-435)gCc>gTc	p.A145V		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	145					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGTGCCCTGGCCCTAGTCCTG	0.706000													10	42					0	0	0.361761	0	0
DOK1	1796	broad.mit.edu	37	2	74782300	74782300	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:74782300C>T	ENST00000233668.5	+	2	749	c.80C>T	c.(79-81)gCc>gTc	p.A27V	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_Missense_Mutation_p.A27V|DOK1_ENST00000409429.1_5'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	27	PH.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAGACCTGGGCCGTGCTCTAC	0.701000													3	36					0	0	0.217242	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51916969	51916969	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:51916969G>T	ENST00000353836.5	-	9	1754	c.1533C>A	c.(1531-1533)ccC>ccA	p.P511P	SIGLEC10_ENST00000441969.3_Silent_p.P453P|SIGLEC10_ENST00000339313.5_Silent_p.P606P|SIGLEC10_ENST00000525998.1_Silent_p.P421P|SIGLEC10_ENST00000442846.3_Silent_p.P363P|SIGLEC10_ENST00000436984.2_Silent_p.P463P|SIGLEC10_ENST00000439889.2_Silent_p.P548P|SIGLEC10_ENST00000432469.2_Silent_p.P428P|SIGLEC10_ENST00000356298.5_Silent_p.P606P	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	606					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CACTCACCAGGGGGCCAGCCG	0.547000													16	70					1.67942e-08	2.00773e-08	0.539581	1	0
SLC6A1	6529	broad.mit.edu	37	3	11076341	11076341	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:11076341A>T	ENST00000287766.4	+	15	2073	c.1652A>T	c.(1651-1653)tAc>tTc	p.Y551F	SLC6A1_ENST00000536032.1_Missense_Mutation_p.Y373F	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	551					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATCCCCGGGTACATGGCCTAC	0.572000													98	59					0	0	0.870114	0	0
CLASP2	23122	broad.mit.edu	37	3	33614643	33614643	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:33614643G>A	ENST00000399362.4	-	26	3035	c.2682C>T	c.(2680-2682)ctC>ctT	p.L894L	CLASP2_ENST00000468888.2_Silent_p.L895L|CLASP2_ENST00000461133.3_Silent_p.L653L|CLASP2_ENST00000539981.1_Silent_p.L664L|CLASP2_ENST00000480013.1_Silent_p.L674L|CLASP2_ENST00000359576.5_Silent_p.L886L|CLASP2_ENST00000307312.7_Silent_p.L375L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	895										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCAGACCTAGGAGGCCTTCTT	0.383000													125	65					0	0	0.870114	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735698	55735698	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55735698C>A	ENST00000312345.2	-	1	292	c.242G>T	c.(241-243)gGa>gTa	p.G81V		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G81E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAAATATTTCCTTTCTGAGT	0.383000													28	106					1.30897e-18	2.0043e-18	0.740014	1	0
ZNF683	257101	broad.mit.edu	37	1	26688288	26688288	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:26688288C>A	ENST00000436292.1	-	7	1549	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y	ZNF683_ENST00000374204.1_Missense_Mutation_p.D457Y|ZNF683_ENST00000349618.3_Missense_Mutation_p.D457Y|ZNF683_ENST00000403843.1_Missense_Mutation_p.D477Y			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCCATAAGATCTAGTGCCCCC	0.602000													24	141					1.30897e-18	2.0043e-18	0.740014	1	0
FAT1	2195	broad.mit.edu	37	4	187539244	187539244	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:187539244C>A	ENST00000441802.2	-	10	8705	c.8496G>T	c.(8494-8496)agG>agT	p.R2832S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2832	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATCAGATGCCCTGATCTGAA	0.438000										HNSCC(5;0.00058)			25	86					4.22769e-11	5.50329e-11	0.706142	1	0
THSD7B	80731	broad.mit.edu	37	2	138378296	138378296	+	Splice_Site	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:138378296G>A	ENST00000409968.1	+	20	3977	c.3799_splice	c.e20+1	p.G1267_splice	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Splice_Site_p.G1239_splice|THSD7B_ENST00000272643.3_Splice_Site_p.G1270_splice					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGGCCATGGAGGTATTGGTTT	0.483000													24	106					0	0	0.706142	0	0
OR13G1	441933	broad.mit.edu	37	1	247835425	247835425	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:247835425G>C	ENST00000359688.2	-	1	940	c.919C>G	c.(919-921)Cac>Gac	p.H307D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AACTACTAGTGTTTCAGAAAT	0.413000													12	58					0	0	0.479597	0	0
PCNXL3	399909	broad.mit.edu	37	11	65390965	65390965	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:65390965G>C	ENST00000355703.3	+	12	2900	c.2361G>C	c.(2359-2361)acG>acC	p.T787T		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	787						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCTGCAGGACGCGGGGAGTGC	0.627000													12	22					0	0	0.435327	0	0
SEMA3C	10512	broad.mit.edu	37	7	80427438	80427438	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:80427438C>A	ENST00000265361.3	-	11	1662	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	SEMA3C_ENST00000419255.2_Missense_Mutation_p.Q367H|SEMA3C_ENST00000544525.1_Missense_Mutation_p.Q385H|SEMA3C_ENST00000536800.1_Missense_Mutation_p.Q219H	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	367	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GAATTCTGCCCTGATAGGAAA	0.398000													22	49					2.65835e-16	3.90302e-16	0.717897	1	0
TRAV1-1	28693	broad.mit.edu	37	14	22090514	22090514	+	RNA	SNP	G	G	T	rs138118666	by1000genomes	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:22090514G>T	ENST00000542354.1	+	0	186																											TAAACTGCACGTACCAGACAT	0.488000													37	72					3.61848e-18	5.52338e-18	0.834066	1	0
GAP43	2596	broad.mit.edu	37	3	115395235	115395235	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:115395235G>T	ENST00000393780.3	+	3	982	c.514G>T	c.(514-516)Ggc>Tgc	p.G172C	GAP43_ENST00000305124.6_Missense_Mutation_p.G136C	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	136					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGAGAAGGCCGGCTCAGCTGA	0.587000													21	30					1.1804e-14	1.6718e-14	0.667858	1	0
FBLN2	2199	broad.mit.edu	37	3	13663316	13663316	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:13663316C>A	ENST00000404922.3	+	9	2316	c.2197C>A	c.(2197-2199)Cga>Aga	p.R733R	FBLN2_ENST00000295760.7_Intron|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000492059.1_Silent_p.R733R	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	733	EGF-like 3; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TTGTAGCCGGCGACAGTTCTG	0.562000													57	28					9.4991e-31	1.69979e-30	0.870114	1	0
PXDNL	137902	broad.mit.edu	37	8	52336204	52336204	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:52336204C>T	ENST00000356297.4	-	14	1826	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R	PXDNL_ENST00000543296.1_Missense_Mutation_p.G576R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	576	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCATATCTTCCCTGGTCAGGG	0.473000													6	55					0	0	0.248553	0	0
MPDZ	8777	broad.mit.edu	37	9	13216853	13216853	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:13216853C>A	ENST00000319217.7	-	10	1457	c.1210G>T	c.(1210-1212)Gga>Tga	p.G404*	MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G404*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G404*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G404*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G404*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G404*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G404*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	404	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACAAAGATTCCTGAAGGTTCT	0.323000													13	9					1.3612e-06	1.54901e-06	0.479597	1	0
PLEC	5339	broad.mit.edu	37	8	144992728	144992728	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:144992728C>A	ENST00000322810.4	-	32	11841	c.11672G>T	c.(11671-11673)gGg>gTg	p.G3891V	PLEC_ENST00000345136.3_Missense_Mutation_p.G3754V|PLEC_ENST00000356346.3_Missense_Mutation_p.G3740V|PLEC_ENST00000436759.2_Missense_Mutation_p.G3781V|PLEC_ENST00000354589.3_Missense_Mutation_p.G3754V|PLEC_ENST00000357649.2_Missense_Mutation_p.G3758V|PLEC_ENST00000527096.1_Missense_Mutation_p.G3777V|PLEC_ENST00000354958.2_Missense_Mutation_p.G3732V|PLEC_ENST00000398774.2_Missense_Mutation_p.G3722V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3891	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCTCGGGCCCCACGAGGCC	0.687000													11	13					6.42651e-13	8.67623e-13	0.387290	1	0
KLHL26	55295	broad.mit.edu	37	19	18779844	18779844	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:18779844G>A	ENST00000300976.4	+	3	1727	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	546										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCCCCATGCGGGCCGGCCAG	0.652000													10	48					0	0	0.411799	0	0
DRD2	1813	broad.mit.edu	37	11	113283509	113283509	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:113283509G>T	ENST00000362072.3	-	7	1251	c.907C>A	c.(907-909)Cac>Aac	p.H303N	DRD2_ENST00000346454.3_Missense_Mutation_p.H274N|DRD2_ENST00000538967.1_Missense_Mutation_p.H305N|DRD2_ENST00000542968.1_Missense_Mutation_p.H303N|DRD2_ENST00000544518.1_Missense_Mutation_p.H302N|DRD2_ENST00000355319.2_Missense_Mutation_p.H305N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	303	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GTCAGCTGGTGGTGGCTGGGT	0.662000													39	129					1.33661e-31	2.40492e-31	0.870114	1	0
HSPA6	3310	broad.mit.edu	37	1	161494895	161494895	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:161494895C>A	ENST00000309758.4	+	1	860	c.447C>A	c.(445-447)ccC>ccA	p.P149P		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	149					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCACCGTGCCCGCCTATTTCA	0.637000													6	42					1.06961e-07	1.25577e-07	0.278610	1	0
TTN	7273	broad.mit.edu	37	2	179448470	179448470	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179448470C>T	ENST00000589042.1	-	312	65663	c.65439G>A	c.(65437-65439)caG>caA	p.Q21813Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.Q12873Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.Q12748Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.Q12940Q|TTN_ENST00000342992.6_Silent_p.Q19245Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.Q20172Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20172	Fibronectin type-III 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGGGGAATCTGGTGAGGTG	0.463000													5	15					0	0	0.217242	0	0
GFOD2	81577	broad.mit.edu	37	16	67719517	67719517	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:67719517C>A	ENST00000268797.7	-	2	447	c.102G>T	c.(100-102)tgG>tgT	p.W34C	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	34						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		CAGTCTTCCCCCACAGGGCCT	0.582000													10	50					3.07112e-06	3.4687e-06	0.387290	1	0
TTN	7273	broad.mit.edu	37	2	179640877	179640877	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179640877T>A	ENST00000589042.1	-	28	5938	c.5714A>T	c.(5713-5715)tAt>tTt	p.Y1905F	TTN_ENST00000359218.5_Missense_Mutation_p.Y1859F|TTN_ENST00000460472.2_Missense_Mutation_p.Y1859F|TTN_ENST00000342175.6_Missense_Mutation_p.Y1859F|TTN_ENST00000342992.6_Missense_Mutation_p.Y1905F|TTN_ENST00000591111.1_Missense_Mutation_p.Y1905F|TTN_ENST00000360870.5_Missense_Mutation_p.Y1905F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1623	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTGTGTCATATGATTTGCA	0.453000													117	159					0	0	0.870114	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766166	27766166	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:27766166G>T	ENST00000451261.2	+	5	1553	c.1154G>T	c.(1153-1155)gGt>gTt	p.G385V		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TTTGCAGTGGGTGGACAAGAT	0.393000													5	8					0.0215528	0.0219326	0.217242	1	0
KIAA1549	57670	broad.mit.edu	37	7	138601522	138601522	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:138601522T>C	ENST00000440172.1	-	2	2898	c.2850A>G	c.(2848-2850)acA>acG	p.T950T	KIAA1549_ENST00000422774.1_Silent_p.T950T|KIAA1549_ENST00000242365.4_Silent_p.T900T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	950						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CATCGGGGACTGTGATATCAC	0.562000			O	BRAF	pilocytic astrocytoma								27	36					0	0	0.827153	0	0
MAP4K2	5871	broad.mit.edu	37	11	64563827	64563827	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:64563827C>A	ENST00000294066.2	-	24	1760	c.1669G>T	c.(1669-1671)Ggc>Tgc	p.G557C	MAP4K2_ENST00000377350.3_Missense_Mutation_p.G549C	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	557	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TCAAACAGGCCTGGGAGGTCA	0.637000													30	57					1.16021e-09	1.43328e-09	0.717897	1	0
OR51D1	390038	broad.mit.edu	37	11	4661876	4661876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:4661876G>T	ENST00000357605.2	+	1	932	c.856G>T	c.(856-858)Gtg>Ttg	p.V286L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCCTCCATGTGGTTATGGC	0.532000													72	80					1.31969e-37	2.46016e-37	0.870114	1	0
MAP3K13	9175	broad.mit.edu	37	3	185191546	185191546	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:185191546G>A	ENST00000265026.3	+	11	2761	c.2427G>A	c.(2425-2427)caG>caA	p.Q809Q	MAP3K13_ENST00000443863.1_Silent_p.Q665Q|MAP3K13_ENST00000446828.1_Silent_p.Q602Q|MAP3K13_ENST00000535426.1_Silent_p.Q665Q|MAP3K13_ENST00000424227.1_Silent_p.Q809Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	809					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGCCTCTGCAGAAGGTAAAGT	0.483000													64	99					0	0	0.870114	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884932	24884932	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:24884932G>T	ENST00000382554.3	+	9	4295	c.3977G>T	c.(3976-3978)gGc>gTc	p.G1326V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1326					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGGTGTGCTGGCTTTGGTCTC	0.592000													118	166					6.80707e-84	1.35796e-83	0.870114	1	0
NFASC	23114	broad.mit.edu	37	1	204951051	204951051	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:204951051C>A	ENST00000367172.4	+	21	2701	c.2373C>A	c.(2371-2373)acC>acA	p.T791T	NFASC_ENST00000338515.6_Silent_p.T791T|NFASC_ENST00000339876.6_Silent_p.T791T|NFASC_ENST00000338586.6_Silent_p.T791T|NFASC_ENST00000513543.1_Silent_p.T787T|NFASC_ENST00000404076.1_Silent_p.T770T|NFASC_ENST00000367169.4_Silent_p.T791T|NFASC_ENST00000401399.1_Silent_p.T791T|NFASC_ENST00000404907.1_Silent_p.T787T|NFASC_ENST00000360049.4_Silent_p.T787T|NFASC_ENST00000539706.1_Silent_p.T787T|NFASC_ENST00000367171.4_Silent_p.T776T|NFASC_ENST00000367170.4_Silent_p.T791T			O94856	NFASC_HUMAN	neurofascin	791	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGGGCAGACCCCAGTCTACG	0.592000													8	28					3.09899e-07	3.59534e-07	0.307466	1	0
SAMD9	54809	broad.mit.edu	37	7	92731661	92731661	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:92731661G>T	ENST00000379958.2	-	3	4019	c.3750C>A	c.(3748-3750)ctC>ctA	p.L1250L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1250						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATAGTTTTTGAGGGCTAATT	0.279000													26	65					3.65163e-15	5.26682e-15	0.706142	1	0
PYDC1	260434	broad.mit.edu	37	16	31228216	31228216	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:31228216C>A	ENST00000302964.3	-	1	464	c.134G>T	c.(133-135)gGg>gTg	p.G45V	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	45	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ATCTAGCTGCCCGAGCGCGCC	0.647000													12	50					3.27435e-08	3.88372e-08	0.457914	1	0
TTN	7273	broad.mit.edu	37	2	179416711	179416711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179416711C>A	ENST00000589042.1	-	335	91140	c.90916G>T	c.(90916-90918)Gga>Tga	p.G30306*	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.G21366*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.G21241*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.G21433*|TTN_ENST00000342992.6_Nonsense_Mutation_p.G27738*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.G28665*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28665	Fibronectin type-III 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTGACTCCGTATCTGTTT	0.438000													27	47					6.32553e-13	8.54578e-13	0.681144	1	0
UGGT1	56886	broad.mit.edu	37	2	128936144	128936144	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:128936144G>T	ENST00000375990.3	+	34	4146		c.e34+1		UGGT1_ENST00000259253.6_Splice_Site			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1						'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATTTCTTCGGTCAGTCTTGT	0.358000													12	20					2.80697e-09	3.43736e-09	0.387290	1	0
IGLV4-3	28786	broad.mit.edu	37	22	23214200	23214200	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:23214200C>A	ENST00000390318.2	+	0	389																											CGATTGATGGCCAAGTCGGTT	0.572000													10	11					1.76689e-08	2.10846e-08	0.335167	1	0
NPR2	4882	broad.mit.edu	37	9	35800089	35800089	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:35800089A>C	ENST00000342694.2	+	4	1313	c.1058A>C	c.(1057-1059)cAg>cCg	p.Q353P		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	353					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GAGACAATACAGGAAGGAGGC	0.522000													124	77					0	0	0.870114	0	0
COL18A1	80781	broad.mit.edu	37	21	46888395	46888395	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:46888395C>G	ENST00000359759.4	+	2	1612	c.1591C>G	c.(1591-1593)Cag>Gag	p.Q531E	COL18A1_ENST00000400337.2_Missense_Mutation_p.Q116E|COL18A1_ENST00000355480.5_Missense_Mutation_p.Q296E			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	531	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGACTCGGCGCAGGCCATGGT	0.637000													27	107					0	0	0.693898	0	0
GPR132	29933	broad.mit.edu	37	14	105517529	105517529	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:105517529G>A	ENST00000329797.3	-	4	1856	c.945C>T	c.(943-945)tcC>tcT	p.S315S	GPR132_ENST00000539291.2_Silent_p.S315S|GPR132_ENST00000392585.2_Silent_p.S306S	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	315					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CTTCTTGGCGGGAATGGTCCG	0.577000													3	67					0	0	0.184627	0	0
SLC44A5	204962	broad.mit.edu	37	1	75805313	75805313	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:75805313C>G	ENST00000370855.5	-	4	168	c.55G>C	c.(55-57)Gat>Cat	p.D19H	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.D19H|SLC44A5_ENST00000535611.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	19						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GTCCTTGGATCACCTGCATTT	0.323000													100	223					0	0	0.870114	0	0
KLHL4	56062	broad.mit.edu	37	X	86888890	86888890	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:86888890G>C	ENST00000373119.4	+	8	1836	c.1691G>C	c.(1690-1692)gGt>gCt	p.G564A	KLHL4_ENST00000373114.4_Missense_Mutation_p.G564A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	564						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGCACAGTTGGTGTTGTTGCA	0.423000													33	15					0	0	0.804634	0	0
DHX8	1659	broad.mit.edu	37	17	41570159	41570159	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:41570159G>T	ENST00000262415.3	+	6	686	c.614G>T	c.(613-615)cGc>cTc	p.R205L	DHX8_ENST00000540306.1_Missense_Mutation_p.R205L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	205	Arg/Ser-rich (RS domain).					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		caCCGATCCCGCTCTCGATCA	0.552000													74	220					1.6246e-59	3.2148e-59	0.870114	1	0
PAX5	5079	broad.mit.edu	37	9	37020633	37020633	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:37020633C>A	ENST00000358127.4	-	2	286	c.212_splice	c.e2+1	p.R71_splice	PAX5_ENST00000377852.2_Splice_Site_p.R71_splice|PAX5_ENST00000523241.1_Splice_Site_p.R71_splice|PAX5_ENST00000414447.1_Splice_Site_p.R71_splice|PAX5_ENST00000377853.2_Splice_Site_p.R71_splice|PAX5_ENST00000377847.2_Splice_Site_p.R71_splice|PAX5_ENST00000446742.1_Splice_Site_p.R71_splice|PAX5_ENST00000520154.1_Splice_Site_p.R71_splice|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000522003.1_Intron|PAX5_ENST00000520281.1_Splice_Site_p.R71_splice	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	71	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CTGCCTTTACCTGCCAAGAAT	0.488000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								64	45					1.43161e-34	2.63379e-34	0.870114	1	0
CLDN16	10686	broad.mit.edu	37	3	190126221	190126221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:190126221G>A	ENST00000264734.2	+	4	959	c.711G>A	c.(709-711)tgG>tgA	p.W237*	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	237					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GGTCCTGTTGGCTCGGAATGG	0.388000													64	113					0	0	0.870114	0	0
RGL1	23179	broad.mit.edu	37	1	183895323	183895323	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:183895323C>G	ENST00000304685.3	+	19	2770	c.2309C>G	c.(2308-2310)tCc>tGc	p.S770C	RGL1_ENST00000360851.3_Missense_Mutation_p.S735C|RGL1_ENST00000539189.1_Missense_Mutation_p.S706C|RGL1_ENST00000367531.1_Missense_Mutation_p.S770C|RGL1_ENST00000536277.1_Missense_Mutation_p.S733C	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	735					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AAAAAGAACTCCATGGAAGAA	0.458000													14	60					0	0	0.479597	0	0
NUF2	83540	broad.mit.edu	37	1	163317666	163317666	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:163317666A>T	ENST00000271452.3	+	12	1341	c.1062A>T	c.(1060-1062)acA>acT	p.T354T	NUF2_ENST00000367900.3_Silent_p.T354T|NUF2_ENST00000524800.1_Silent_p.T307T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	354	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AACTTGCCACAGCACAATTCA	0.333000													13	22					0	0	0.479597	0	0
PKD2L2	27039	broad.mit.edu	37	5	137226201	137226201	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:137226201G>A	ENST00000508638.1	+	2	118	c.63G>A	c.(61-63)aaG>aaA	p.K21K	PKD2L2_ENST00000350250.4_Intron|PKD2L2_ENST00000508883.1_Silent_p.K21K|PKD2L2_ENST00000290431.5_Silent_p.K21K|PKD2L2_ENST00000502810.1_Silent_p.K21K	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	21						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATTACAGAAAGGAAGTAGAAA	0.284000													61	62					0	0	0.870114	0	0
FAM27L	284123	broad.mit.edu	37	17	21825567	21825567	+	RNA	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:21825567G>A	ENST00000426869.3	+	0	271					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		tgcccggagggtgttcgggtg	0.637000													38	48					0	0	0.864702	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121676738	121676738	+	Splice_Site	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:121676738T>G	ENST00000393386.2	+	18	5778		c.e18+2		PTPRZ1_ENST00000449182.1_Splice_Site	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TATGTTGATGTAAGCATGTTT	0.308000													8	74					0	0	0.278610	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769532	31769532	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:31769532C>A	ENST00000240587.4	-	2	1494	c.1167G>T	c.(1165-1167)atG>atT	p.M389I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	389					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCCCACACTCCATGCACTTCA	0.552000													34	94					2.51541e-25	4.27881e-25	0.804634	1	0
DHX8	1659	broad.mit.edu	37	17	41599497	41599497	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:41599497G>T	ENST00000262415.3	+	22	3418	c.3346G>T	c.(3346-3348)Gcc>Tcc	p.A1116S	DHX8_ENST00000540306.1_Missense_Mutation_p.A1116S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1116						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCGTAATGCTGCCAAGAAAGA	0.517000													73	85					4.14589e-37	7.69952e-37	0.870114	1	0
C2orf71	388939	broad.mit.edu	37	2	29296112	29296112	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:29296112C>A	ENST00000331664.5	-	1	1015	c.1016G>T	c.(1015-1017)gGg>gTg	p.G339V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	339					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACCCTGCACCCCAGGGTCGCC	0.577000													9	84					0.010729	0.0109693	0.387290	1	0
GIGYF1	64599	broad.mit.edu	37	7	100282480	100282480	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:100282480G>A	ENST00000275732.5	-	12	2537	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	443										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCTCCAAGGAGCTGTCCTG	0.637000													16	14					0	0	0.592651	0	0
KCNB1	3745	broad.mit.edu	37	20	47989978	47989978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:47989978C>A	ENST00000371741.4	-	2	2285	c.2119G>T	c.(2119-2121)Gga>Tga	p.G707*		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	707					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CACTCCAGTCCAGCGACAGCA	0.597000													31	39					4.3181e-19	6.6691e-19	0.769981	1	0
GABRA4	2557	broad.mit.edu	37	4	46979085	46979085	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:46979085G>T	ENST00000264318.3	-	5	1552	c.570C>A	c.(568-570)ttC>ttA	p.F190L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	190					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACAACTCCCGAATTTCAAAG	0.323000													5	38					3.59834e-05	3.94831e-05	0.217242	1	0
PSMB11	122706	broad.mit.edu	37	14	23511538	23511538	+	Missense_Mutation	SNP	C	C	T	rs143333062	by1000genomes	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:23511538C>T	ENST00000408907.2	+	1	163	c.104C>T	c.(103-105)cCt>cTt	p.P35L		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GGTTGTGACCCTCAAACCTTC	0.647000													56	117					0	0	0.870114	0	0
OR2M2	391194	broad.mit.edu	37	1	248343400	248343400	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:248343400C>A	ENST00000359682.2	+	1	113	c.113C>A	c.(112-114)gCc>gAc	p.A38D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTTTAGTGGCCTTCATGGGA	0.517000													57	160					6.176e-18	9.35454e-18	0.870114	1	0
KDM4C	23081	broad.mit.edu	37	9	7165314	7165314	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:7165314A>G	ENST00000381309.3	+	20	3423	c.2858A>G	c.(2857-2859)tAt>tGt	p.Y953C	KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000381306.3_Missense_Mutation_p.Y953C|KDM4C_ENST00000442236.2_Missense_Mutation_p.Y698C|KDM4C_ENST00000428870.2_Missense_Mutation_p.Y640C	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	953	Tudor 2.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GGCAAACTCTATGGAGCAAAA	0.483000													80	37					0	0	0.870114	0	0
NCAM1	4684	broad.mit.edu	37	11	113078637	113078637	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:113078637G>T	ENST00000316851.7	+	6	799	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.V159L|NCAM1_ENST00000401611.2_Missense_Mutation_p.V276L	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	277	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CATCAAAAAGGTGGATAAGAA	0.502000													8	14					9.70103e-10	1.20298e-09	0.361761	1	0
GXYLT2	727936	broad.mit.edu	37	3	73004409	73004409	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:73004409G>A	ENST00000389617.4	+	4	922	c.761G>A	c.(760-762)cGc>cAc	p.R254H		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	254					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TGGTACAGCCGCTTTGCTAGG	0.478000													5	28					0	0	0.217242	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18770633	18770633	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:18770633C>G	ENST00000380548.4	+	17	2590	c.2251C>G	c.(2251-2253)Cgt>Ggt	p.R751G		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	751						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGTTCAGAAACGTGAGGTTCT	0.502000													5	5					0	0	0.248553	0	0
LPPR4	9890	broad.mit.edu	37	1	99772486	99772486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:99772486C>A	ENST00000370185.3	+	7	2709	c.2212C>A	c.(2212-2214)Cct>Act	p.P738T	LPPR4_ENST00000457765.1_Missense_Mutation_p.P680T|LPPR4_ENST00000370184.1_Missense_Mutation_p.P580T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		738							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CATTCTAATCCCTGAAAGAAG	0.493000													27	45					3.65163e-15	5.26682e-15	0.706142	1	0
USHBP1	83878	broad.mit.edu	37	19	17370739	17370739	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:17370739G>T	ENST00000252597.3	-	5	908	c.735C>A	c.(733-735)agC>agA	p.S245R	USHBP1_ENST00000431146.2_Missense_Mutation_p.S181R	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	245							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCCTCAGAGCTGCTAGAAC	0.547000													14	29					0.00498961	0.00516321	0.520397	1	0
GRB7	2886	broad.mit.edu	37	17	37898907	37898907	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:37898907C>T	ENST00000309156.4	+	3	501	c.244C>T	c.(244-246)Cca>Tca	p.P82S	GRB7_ENST00000394211.3_Missense_Mutation_p.P82S|GRB7_ENST00000445327.2_Missense_Mutation_p.P105S|GRB7_ENST00000309185.3_Missense_Mutation_p.P82S|GRB7_ENST00000394204.1_Missense_Mutation_p.P82S|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394209.2_Missense_Mutation_p.P82S	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	82					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTCACAGAGCCCAATTCTCGG	0.647000													18	156					0	0	0.575678	0	0
FARSB	10056	broad.mit.edu	37	2	223513513	223513513	+	Splice_Site	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:223513513A>C	ENST00000281828.6	-	2	323	c.58_splice	c.e2-1	p.T20_splice	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	20					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATTCTTCGTCAGCTAGGAAAA	0.308000													8	85					0	0	0.387290	0	0
EFHC2	80258	broad.mit.edu	37	X	44091758	44091758	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:44091758G>T	ENST00000420999.1	-	10	1672	c.1589C>A	c.(1588-1590)aCc>aAc	p.T530N		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	530	DM10 3.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GTAGTTTAAGGTATACTCATC	0.403000													2	1					0.004672	0.0048371	0.115264	1	0
ITGAX	3687	broad.mit.edu	37	16	31391153	31391153	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:31391153G>A	ENST00000268296.4	+	25	3065	c.2944G>A	c.(2944-2946)Gtg>Atg	p.V982M	ITGAX_ENST00000562522.1_Missense_Mutation_p.V982M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	982					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCAGGAGGCTGTGTGGATGGA	0.587000													21	30					0	0	0.681144	0	0
PRKG1	5592	broad.mit.edu	37	10	52913082	52913082	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:52913082T>A	ENST00000373980.4	+	2	887	c.470T>A	c.(469-471)gTc>gAc	p.V157D	PRKG1_ENST00000401604.2_Missense_Mutation_p.V142D|PRKG1_ENST00000373985.1_Missense_Mutation_p.V130D	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	142					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTGGTGTATGTCATGGAAGGT	0.438000													34	37					0	0	0.847076	0	0
IRF9	10379	broad.mit.edu	37	14	24627384	24627384	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:24627384G>C	ENST00000558468.1	+	10	1300	c.1300G>C	c.(1300-1302)Gct>Cct	p.A434P	RNF31_ENST00000559275.1_Missense_Mutation_p.A808P|RNF31_ENST00000324103.6_Missense_Mutation_p.A959P|RNF31_ENST00000382687.3_Missense_Mutation_p.A808P																							AGAGCCTCCAGCTGGGGCCCG	0.547000													48	68					0	0	0.870114	0	0
HJURP	55355	broad.mit.edu	37	2	234763123	234763123	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:234763123C>G	ENST00000411486.2	-	1	89	c.24G>C	c.(22-24)atG>atC	p.M8I	HJURP_ENST00000441687.1_Missense_Mutation_p.M8I|HJURP_ENST00000432087.1_Missense_Mutation_p.M8I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	8					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CCTCGCCCTCCATGGCGCGCA	0.667000											OREG0003841	type=REGULATORY REGION|Gene=AK074809|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	25					0	0	0.307466	0	0
OR52K2	119774	broad.mit.edu	37	11	4470977	4470977	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:4470977G>A	ENST00000325719.4	+	1	453	c.408G>A	c.(406-408)aaG>aaA	p.K136K		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTACACCAAGGTCCTGACTG	0.552000													41	57					0	0	0.870114	0	0
DST	667	broad.mit.edu	37	6	56417155	56417155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:56417155G>A	ENST00000370754.5	-	61	16341	c.16342C>T	c.(16342-16344)Cga>Tga	p.R5448*	DST_ENST00000446842.2_Nonsense_Mutation_p.R4944*|DST_ENST00000244364.6_Nonsense_Mutation_p.R2856*|DST_ENST00000370769.4_Nonsense_Mutation_p.R5270*|DST_ENST00000361203.3_Nonsense_Mutation_p.R5268*|DST_ENST00000370788.2_Nonsense_Mutation_p.R3182*|DST_ENST00000421834.2_Nonsense_Mutation_p.R3182*|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5268					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTTGGGCTCGGTCCAGTAAC	0.443000													21	49					0	0	0.667858	0	0
CENPI	2491	broad.mit.edu	37	X	100364527	100364527	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:100364527G>A	ENST00000372927.1	+	4	707	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	CENPI_ENST00000218507.5_Missense_Mutation_p.V144M|CENPI_ENST00000372926.1_Missense_Mutation_p.V144M|CENPI_ENST00000423383.1_Missense_Mutation_p.V144M	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	144					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAAGATTCTGTGGTTAAGGC	0.388000													162	87					0	0	0.870114	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720626	50720626	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:50720626A>G	ENST00000449103.1	-	19	3244	c.3104T>C	c.(3103-3105)cTg>cCg	p.L1035P	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L1035P			O15031	PLXB2_HUMAN	plexin B2	1035	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGGGCTGCAGGGATTCAGC	0.687000													7	25					0	0	0.278610	0	0
SEMG2	6407	broad.mit.edu	37	20	43850567	43850567	+	Silent	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:43850567A>G	ENST00000372769.3	+	2	384	c.294A>G	c.(292-294)caA>caG	p.Q98Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	98	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AATCAAAACAACACCTAGGTG	0.358000													20	53					0	0	0.575678	0	0
MTOR	2475	broad.mit.edu	37	1	11181350	11181350	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:11181350C>A	ENST00000361445.4	-	49	6962	c.6886G>T	c.(6886-6888)Ggg>Tgg	p.G2296W	MTOR_ENST00000376838.1_Missense_Mutation_p.G501W	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2296	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGGTCGTCCCCAGCTGTATTA	0.577000													11	55					0.000151284	0.000163441	0.435327	1	0
SIN3B	23309	broad.mit.edu	37	19	16980570	16980570	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:16980570G>T	ENST00000379803.1	+	14	2216	c.2202G>T	c.(2200-2202)gcG>gcT	p.A734A	SIN3B_ENST00000595541.1_Silent_p.A292A|SIN3B_ENST00000248054.5_Silent_p.A702A	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	734					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGAAGCCGGCGCCAGGACCCC	0.721000													7	17					0.000157383	0.000169656	0.278610	1	0
ANK2	287	broad.mit.edu	37	4	114277412	114277412	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:114277412C>A	ENST00000357077.4	+	38	7691	c.7638C>A	c.(7636-7638)gtC>gtA	p.V2546V	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.V2513V|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2513					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGAAGAAGTCAGCTATGAGG	0.498000													27	112					4.02929e-09	4.91884e-09	0.750413	1	0
TLE6	79816	broad.mit.edu	37	19	2987939	2987939	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:2987939C>A	ENST00000246112.4	+	10	870	c.669C>A	c.(667-669)tcC>tcA	p.S223S	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Silent_p.S100S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	100					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGGGTTCCCAAGACAGGA	0.652000													5	13					0.00116845	0.00122524	0.217242	1	0
ZEB2	9839	broad.mit.edu	37	2	145182404	145182404	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:145182404C>A	ENST00000558170.2	-	4	1546	c.362G>T	c.(361-363)gGg>gTg	p.G121V	ZEB2_ENST00000303660.4_Missense_Mutation_p.G121V|ZEB2_ENST00000409487.3_Missense_Mutation_p.G121V|ZEB2_ENST00000539609.3_Intron	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	121						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGCTTCTGGCCCCATAGTGTC	0.438000													15	71					3.32936e-07	3.85805e-07	0.539581	1	0
RP1L1	94137	broad.mit.edu	37	8	10468635	10468635	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:10468635C>T	ENST00000382483.3	-	4	3196	c.2973G>A	c.(2971-2973)gaG>gaA	p.E991E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	991					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGGGTCCACCTCGGGGCCTC	0.642000													58	49					0	0	0.870114	0	0
OR52K1	390036	broad.mit.edu	37	11	4510516	4510516	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:4510516G>A	ENST00000307632.3	+	1	408	c.386G>A	c.(385-387)tGc>tAc	p.C129Y		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGGCCATCTGCAAGCCATTG	0.562000													7	40					0	0	0.248553	0	0
TAF2	6873	broad.mit.edu	37	8	120809951	120809951	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:120809951C>A	ENST00000378164.2	-	7	1226	c.928G>T	c.(928-930)Gat>Tat	p.D310Y		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	310					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAAGCCTCATCAATGAAGACA	0.353000													14	93					6.94344e-10	8.6375e-10	0.539581	1	0
PSD	5662	broad.mit.edu	37	10	104163112	104163112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:104163112C>A	ENST00000020673.5	-	17	3446	c.2920G>T	c.(2920-2922)Gag>Tag	p.E974*	PSD_ENST00000406432.1_Nonsense_Mutation_p.E974*	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	974					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGTGCTGCCTCCACTGCATCC	0.652000													59	42					2.49587e-40	4.70643e-40	0.870114	1	0
SPTA1	6708	broad.mit.edu	37	1	158624535	158624535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:158624535G>T	ENST00000368148.3	-	21	3082	c.2902C>A	c.(2902-2904)Caa>Aaa	p.Q968K	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q968K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	968					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGCCTGTTGTTGCTGAATA	0.517000													10	59					6.72482e-11	8.66765e-11	0.479597	1	0
FAT3	120114	broad.mit.edu	37	11	92538342	92538342	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:92538342G>T	ENST00000298047.6	+	10	8937	c.8920G>T	c.(8920-8922)Gct>Tct	p.A2974S	FAT3_ENST00000525166.1_Missense_Mutation_p.A2824S|FAT3_ENST00000409404.2_Missense_Mutation_p.A2974S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2974	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGAAGGTTTGCTCTGGGCCT	0.438000										TCGA Ovarian(4;0.039)			22	51					3.65163e-15	5.26682e-15	0.706142	1	0
KRT31	3881	broad.mit.edu	37	17	39551720	39551720	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:39551720G>T	ENST00000251645.2	-	4	796	c.744C>A	c.(742-744)acC>acA	p.T248T		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	248	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CCACCTGCGTGGTGAACCATT	0.622000													34	117					1.26612e-14	1.79063e-14	0.779181	1	0
NTMT1	28989	broad.mit.edu	37	9	132397634	132397634	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:132397634A>G	ENST00000372486.1	+	4	912	c.563A>G	c.(562-564)gAc>gGc	p.D188G	NTMT1_ENST00000372480.1_Missense_Mutation_p.D188G|NTMT1_ENST00000372483.4_Missense_Mutation_p.D188G|NTMT1_ENST00000482347.1_Missense_Mutation_p.D100G|NTMT1_ENST00000372481.3_3'UTR					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		CGGGACCTTGACGTGGTCCGC	0.612000													46	48					0	0	0.870114	0	0
DLG5	9231	broad.mit.edu	37	10	79581114	79581114	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:79581114G>A	ENST00000372391.2	-	15	3133	c.3128C>T	c.(3127-3129)cCa>cTa	p.P1043L	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1043	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACTAGTGGATGGGGAGCTGCC	0.647000													8	8					0	0	0.307466	0	0
MXRA7	439921	broad.mit.edu	37	17	74679993	74679993	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:74679993C>A	ENST00000375036.2	-	4	574	c.517G>T	c.(517-519)Gac>Tac	p.D173Y	MXRA7_ENST00000589082.1_Missense_Mutation_p.D18Y|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000355797.3_Intron|MXRA7_ENST00000585519.1_Intron	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	0						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GAAGTGAGGTCAGAGGTCAGC	0.507000													50	51					8.72158e-25	1.47845e-24	0.870114	1	0
PEX5L	51555	broad.mit.edu	37	3	179754382	179754382	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:179754382G>A	ENST00000467460.1	-	1	336	c.6C>T	c.(4-6)taC>taT	p.Y2Y	PEX5L_ENST00000465751.1_Silent_p.Y2Y|PEX5L_ENST00000485199.1_Silent_p.Y2Y|PEX5L_ENST00000263962.8_Silent_p.Y2Y|PEX5L_ENST00000472994.1_Silent_p.Y2Y	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	2					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGTGTCCCTGGTACATTCTGC	0.522000													66	201					0	0	0.870114	0	0
BZRAP1-AS1	100506779	broad.mit.edu	37	17	56408597	56408597	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:56408597G>T	ENST00000579527.1	+	0	351				BZRAP1-AS1_ENST00000578334.1_RNA|MIR142_ENST00000579003.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|MIR142_ENST00000384835.1_RNA																							GAAGCCCACAGTACACTCATC	0.587000													6	82					0.000442599	0.000469634	0.335167	1	0
NOTCH4	4855	broad.mit.edu	37	6	32188036	32188036	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:32188036C>T	ENST00000375023.3	-	7	1323	c.1185G>A	c.(1183-1185)atG>atA	p.M395I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	395	EGF-like 10.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCTCAGACACATGTCTTCCA	0.607000													57	56					0	0	0.870114	0	0
OR6M1	390261	broad.mit.edu	37	11	123676682	123676682	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:123676682C>A	ENST00000309154.2	-	1	413	c.376G>T	c.(376-378)Gac>Tac	p.D126Y		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D126N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGCAGTGGGTCGCAGATAGCC	0.522000													20	29					4.35082e-09	5.29161e-09	0.592651	1	0
PCDHA6	56142	broad.mit.edu	37	5	140208045	140208045	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140208045G>A	ENST00000529310.1	+	1	483	c.369G>A	c.(367-369)gtG>gtA	p.V123V	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.V123V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGGAGGTGAGGGACATTA	0.592000													140	91					0	0	0.870114	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785450	37785450	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:37785450A>G	ENST00000314103.4	+	12	1481	c.1330A>G	c.(1330-1332)Aca>Gca	p.T444A		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	444					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CCCAGCCCCAACAGTCATCAG	0.642000													12	4					0	0	0.457914	0	0
IGF2	3481	broad.mit.edu	37	11	2161445	2161445	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:2161445C>A	ENST00000434045.2	-	2	466	c.82G>T	c.(82-84)Ggg>Tgg	p.G28W	IGF2_ENST00000337883.6_Intron|IGF2_ENST00000381389.1_Intron|IGF2_ENST00000300632.5_Intron	NM_001127598.1	NP_001121070.1	P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	0	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ATGGTTACCCCGTCCTCAGTG	0.557000													25	31					7.38237e-10	9.17189e-10	0.706142	1	0
FKTN	2218	broad.mit.edu	37	9	108366500	108366500	+	Missense_Mutation	SNP	G	G	A	rs142783718		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:108366500G>A	ENST00000223528.2	+	5	498	c.374G>A	c.(373-375)gGc>gAc	p.G125D	FKTN_ENST00000357998.5_Missense_Mutation_p.G125D|FKTN_ENST00000540160.1_Missense_Mutation_p.G125D|FKTN_ENST00000448551.2_Missense_Mutation_p.G125D|FKTN_ENST00000602661.1_Missense_Mutation_p.G125D	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	125			G -> S (in a patient diagnosed with Walker-Warburg syndrome; dbSNP:rs34006675).		muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TTCTAGGAAGGCTGGTTTCGG	0.378000													47	34					0	0	0.870114	0	0
OTOA	146183	broad.mit.edu	37	16	21726376	21726376	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:21726376G>T	ENST00000388958.3	+	13	1392	c.1391G>T	c.(1390-1392)aGc>aTc	p.S464I	OTOA_ENST00000286149.4_Missense_Mutation_p.S478I|OTOA_ENST00000388956.4_Missense_Mutation_p.S385I|OTOA_ENST00000388957.3_Missense_Mutation_p.S140I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	478					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCTTCTGCAGCATGAAACGC	0.587000													89	175					5.77035e-48	1.11708e-47	0.870114	1	0
SYTL2	54843	broad.mit.edu	37	11	85435690	85435690	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:85435690G>A	ENST00000359152.5	-	1	3381	c.3382C>T	c.(3382-3384)Ctt>Ttt	p.L1128F	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.L604F|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.L604F	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCTTTAAGAAGTTTCTCAAAA	0.448000													11	66					0	0	0.411799	0	0
TTN	7273	broad.mit.edu	37	2	179408637	179408637	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179408637G>C	ENST00000589042.1	-	346	96458	c.96234C>G	c.(96232-96234)taC>taG	p.Y32078*	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y23138*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y23013*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y23205*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y29510*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y30437*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30437	Fibronectin type-III 132.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGCATCGTACCGATTAA	0.413000													48	72					0	0	0.870114	0	0
IGSF3	3321	broad.mit.edu	37	1	117122168	117122168	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:117122168C>G	ENST00000369486.3	-	10	3945	c.3180G>C	c.(3178-3180)ccG>ccC	p.P1060P	IGSF3_ENST00000318837.6_Silent_p.P1080P|IGSF3_ENST00000369483.1_Silent_p.P1080P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1060	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGTAGAGCACCGGGGAGAGCC	0.632000													10	30					0	0	0.387290	0	0
TRPM6	140803	broad.mit.edu	37	9	77377781	77377781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:77377781C>A	ENST00000451710.3	-	26	4043	c.3806G>T	c.(3805-3807)gGa>gTa	p.G1269V	TRPM6_ENST00000449912.2_Missense_Mutation_p.G1264V|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1269V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1264V|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1269V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1269					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCTTCTCTCCAGCGATCTC	0.532000													41	44					6.18754e-15	8.87228e-15	0.870114	1	0
CSTF2T	23283	broad.mit.edu	37	10	53458951	53458951	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:53458951T>A	ENST00000331173.4	-	1	404	c.359A>T	c.(358-360)gAt>gTt	p.D120V	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	120					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ATCTTCTGGATCGATGGGATC	0.522000													38	35					0	0	0.847076	0	0
MYCBP2	23077	broad.mit.edu	37	13	77739436	77739436	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:77739436C>T	ENST00000407578.2	-	42	6697	c.6431G>A	c.(6430-6432)gGa>gAa	p.G2144E	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G2106E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G2106E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAATTCATATCCAATTGCAAA	0.343000													28	34					0	0	0.706142	0	0
ADAM12	8038	broad.mit.edu	37	10	127787005	127787005	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:127787005G>T	ENST00000368679.4	-	10	1294	c.985C>A	c.(985-987)Cag>Aag	p.Q329K	ADAM12_ENST00000368676.4_Missense_Mutation_p.Q329K	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	329	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCCCCAGACTGGTCTGCCGTG	0.468000													87	105					4.65105e-59	9.19438e-59	0.870114	1	0
SPOCD1	90853	broad.mit.edu	37	1	32280167	32280167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:32280167G>T	ENST00000360482.2	-	2	897	c.768C>A	c.(766-768)tgC>tgA	p.C256*	SPOCD1_ENST00000533231.1_Nonsense_Mutation_p.C256*|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Nonsense_Mutation_p.C256*	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	256					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGGGAGGTCTGCAAGGGCCTC	0.592000													30	37					2.81731e-10	3.56569e-10	0.750413	1	0
LPL	4023	broad.mit.edu	37	8	19818412	19818412	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:19818412G>T	ENST00000311322.8	+	8	1610	c.1139_splice	c.e8-1	p.L380_splice		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	380	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TTTTGTTTAGGCCTGAAGTTT	0.353000													15	31					1.67942e-08	2.00773e-08	0.539581	1	0
EMX1	2016	broad.mit.edu	37	2	73145381	73145381	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:73145381C>T	ENST00000258106.6	+	1	778	c.400C>T	c.(400-402)Cac>Tac	p.H134Y	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						GCATCCGGCGCACCAGCTGGG	0.741000													7	40					0	0	0.278610	0	0
MAGED2	10916	broad.mit.edu	37	X	54841723	54841723	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:54841723G>T	ENST00000375068.1	+	12	1662	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	MAGED2_ENST00000347546.3_Nonsense_Mutation_p.E421*|MAGED2_ENST00000343474.6_Nonsense_Mutation_p.E459*|MAGED2_ENST00000375053.2_Nonsense_Mutation_p.E477*|MAGED2_ENST00000375062.4_Nonsense_Mutation_p.E392*|MAGED2_ENST00000375060.1_Nonsense_Mutation_p.E392*|MAGED2_ENST00000396224.1_Nonsense_Mutation_p.E477*|MAGED2_ENST00000375058.1_Nonsense_Mutation_p.E477*|MAGED2_ENST00000218439.4_Nonsense_Mutation_p.E477*			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	477	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TCAGTACCGAGAGGCGATGGA	0.507000													7	10					0.00198382	0.0020714	0.248553	1	0
DLGAP1	9229	broad.mit.edu	37	18	3879965	3879965	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:3879965C>T	ENST00000315677.3	-	4	699	c.104G>A	c.(103-105)aGc>aAc	p.S35N	DLGAP1_ENST00000584874.1_Missense_Mutation_p.S35N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.S35N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S35N|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	35					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTCCACTGGGCTCAGCAGGTA	0.667000													46	105					0	0	0.870114	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188289	70188289	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:70188289C>A	ENST00000320256.4	-	1	1108	c.532G>T	c.(532-534)Gcc>Tcc	p.A178S		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	178					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGGCTGGGGGCAGCCCCAGGG	0.587000													25	23					1.80694e-10	2.30177e-10	0.740014	1	0
POLD1	5424	broad.mit.edu	37	19	50918805	50918805	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:50918805C>T	ENST00000440232.2	+	21	2728	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	POLD1_ENST00000595904.1_Missense_Mutation_p.S918F|POLD1_ENST00000599857.1_Missense_Mutation_p.S892F	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	892					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGCGCGGCCTCCGACTATGCC	0.677000								DNA polymerases (catalytic subunits)					8	20					0	0	0.361761	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89292000	89292000	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:89292000G>T	ENST00000495489.1	-	0	325																											TGGTGAGAGTGAAATCTGTCC	0.463000													42	184					1.48734e-19	2.30984e-19	0.864702	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48906570	48906570	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:48906570G>T	ENST00000394754.1	+	11	3652	c.3538G>T	c.(3538-3540)Gca>Tca	p.A1180S	STON1-GTF2A1L_ENST00000402114.2_Intron|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.A442S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.A1180S|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.A476S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.A1133S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.A1180S	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1133					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTGGTGATGCAGAGTGGTA	0.348000													18	105					4.54149e-19	7.0086e-19	0.624587	1	0
FLG	2312	broad.mit.edu	37	1	152285755	152285755	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:152285755A>G	ENST00000368799.1	-	3	1642	c.1607T>C	c.(1606-1608)gTa>gCa	p.V536A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	536	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCTATTTACCGATTGCTC	0.582000									Ichthyosis				129	481					0	0	0.870114	0	0
METTL4	64863	broad.mit.edu	37	18	2539038	2539038	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:2539038C>T	ENST00000574538.1	-	9	2155	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q	METTL4_ENST00000319888.6_3'UTR	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	460					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AATCCACATGCTGAAATTTGA	0.388000													44	99					0	0	0.870114	0	0
ASPM	259266	broad.mit.edu	37	1	197055933	197055933	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:197055933C>A	ENST00000367409.4	-	27	10587	c.10331_splice	c.e27+1	p.R3444_splice	ASPM_ENST00000294732.7_Splice_Site_p.R1859_splice|ASPM_ENST00000367408.1_Splice_Site_p.R1109_splice	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3444					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATTGCTTACCTTGAAACTAT	0.299000													12	83					0.00244969	0.00255377	0.457914	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38196064	38196064	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:38196064T>A	ENST00000317025.8	-	3	1254	c.737A>T	c.(736-738)gAg>gTg	p.E246V	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E246V|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.E246V|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E246V	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	246					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGGGCTTCCTCTTTTAGTAC	0.378000			T	NUP98	AML								58	49					0	0	0.870114	0	0
SLC7A2	6542	broad.mit.edu	37	8	17400986	17400986	+	Missense_Mutation	SNP	C	C	A	rs147447455		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:17400986C>A	ENST00000470360.1	+	4	375	c.258C>A	c.(256-258)agC>agA	p.S86R	SLC7A2_ENST00000522656.1_Missense_Mutation_p.S46R|SLC7A2_ENST00000494857.1_Missense_Mutation_p.S46R|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S86R|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S86R			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	46					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCGTTGGAAGCACCCTTGGGG	0.587000													23	21					1.68575e-08	2.01286e-08	0.717897	1	0
CMYA5	202333	broad.mit.edu	37	5	79032431	79032431	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:79032431G>C	ENST00000446378.2	+	2	7874	c.7843G>C	c.(7843-7845)Gta>Cta	p.V2615L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2615						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCAAAGGCAGTAGGAACCCA	0.413000													25	29					0	0	0.740014	0	0
PRDM16	63976	broad.mit.edu	37	1	3347458	3347458	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:3347458G>T	ENST00000378398.3	+	16	3389	c.3307G>T	c.(3307-3309)Ggc>Tgc	p.G1103C	PRDM16_ENST00000511072.1_Missense_Mutation_p.G1104C|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.G1102C|PRDM16_ENST00000441472.2_Missense_Mutation_p.G1102C|PRDM16_ENST00000514189.1_Missense_Mutation_p.G1103C|PRDM16_ENST00000270722.5_Missense_Mutation_p.G1103C|PRDM16_ENST00000378391.2_Missense_Mutation_p.G1103C			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1103	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GATCGTGGACGGCAGTGCCCA	0.607000			T	EVI1	"""MDS, AML"""								9	60					3.86212e-05	4.2283e-05	0.361761	1	0
CTSG	1511	broad.mit.edu	37	14	25042903	25042903	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:25042903G>T	ENST00000216336.2	-	5	744	c.708C>A	c.(706-708)ccC>ccA	p.P236P		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	236	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TCCTTATCCAGGGCAGGAAAC	0.552000													46	146					2.43468e-25	4.14508e-25	0.870114	1	0
GSK3B	2932	broad.mit.edu	37	3	119812255	119812255	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:119812255G>C	ENST00000264235.8	-	1	1009	c.27C>G	c.(25-27)tcC>tcG	p.S9S	GSK3B_ENST00000316626.5_Silent_p.S9S	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	9					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TCTCCGCAAAGGAGGTGGTTC	0.493000													50	77					0	0	0.870114	0	0
SCYL2	55681	broad.mit.edu	37	12	100723014	100723014	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:100723014G>A	ENST00000360820.2	+	13	2115	c.1678G>A	c.(1678-1680)Gga>Aga	p.G560R		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	560					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TAAGAAGTTGGGAATCACCAA	0.323000													38	28					0	0	0.827153	0	0
CLDN11	5010	broad.mit.edu	37	3	170141062	170141062	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:170141062G>T	ENST00000064724.3	+	2	540	c.338G>T	c.(337-339)gGt>gTt	p.G113V	CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Missense_Mutation_p.G113V|CLDN11_ENST00000451576.1_Missense_Mutation_p.G113V	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	113					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGGAGCCCGGTGTGGCTAAG	0.602000													20	127					8.24728e-16	1.19922e-15	0.681144	1	0
ZNF638	27332	broad.mit.edu	37	2	71627288	71627288	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:71627288C>G	ENST00000409544.1	+	14	3264	c.2634C>G	c.(2632-2634)aaC>aaG	p.N878K	ZNF638_ENST00000355812.3_Missense_Mutation_p.N878K|ZNF638_ENST00000264447.4_Missense_Mutation_p.N878K	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	878					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCACTGAAAACTGTGCTAAAG	0.284000													6	31					0	0	0.278610	0	0
EDEM1	9695	broad.mit.edu	37	3	5229961	5229961	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:5229961C>T	ENST00000600805.1	-	1	21	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	EDEM1_ENST00000256497.4_Silent_p.P157P																							AGCTCAACCCCATCCACTGCC	0.736000													22	5					0	0	0.681144	0	0
ZNF845	91664	broad.mit.edu	37	19	53855530	53855530	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:53855530G>C	ENST00000458035.1	+	4	1719	c.1602G>C	c.(1600-1602)cgG>cgC	p.R534R	ZNF845_ENST00000595091.1_Silent_p.R534R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CCTTTAGTCGGAAGTCATCCC	0.403000													17	52					0	0	0.654019	0	0
BAI3	577	broad.mit.edu	37	6	69949085	69949085	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:69949085C>A	ENST00000370598.1	+	20	3602	c.2781C>A	c.(2779-2781)ctC>ctA	p.L927L	BAI3_ENST00000238918.8_Silent_p.L133L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	927					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCAATATCCTCATACTGGTTG	0.343000													78	120					9.37156e-40	1.7621e-39	0.870114	1	0
PTBP3	9991	broad.mit.edu	37	9	114994496	114994496	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:114994496A>T	ENST00000334318.6	-	10	1182	c.996T>A	c.(994-996)ccT>ccA	p.P332P	PTBP3_ENST00000343327.2_Silent_p.P234P|PTBP3_ENST00000374257.1_Silent_p.P301P|PTBP3_ENST00000458258.1_Silent_p.P335P|PTBP3_ENST00000374255.2_Silent_p.P329P	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	329					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										CAAGAGCTCCAGGAACAGCTG	0.388000													14	17					0	0	0.479597	0	0
ZNF835	90485	broad.mit.edu	37	19	57176502	57176502	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:57176502C>A	ENST00000537055.2	-	2	296	c.65G>T	c.(64-66)gGc>gTc	p.G22V		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTCAACCTGGCCCTCGTGTTT	0.602000													11	25					3.07112e-06	3.4687e-06	0.387290	1	0
IQGAP2	10788	broad.mit.edu	37	5	75888672	75888672	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:75888672A>G	ENST00000274364.6	+	9	1126	c.829A>G	c.(829-831)Att>Gtt	p.I277V	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	277					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAATAGCTGTATTTCAGAAGA	0.323000													41	30					0	0	0.859065	0	0
FER	2241	broad.mit.edu	37	5	108219132	108219132	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:108219132A>T	ENST00000281092.4	+	9	1343	c.959A>T	c.(958-960)cAg>cTg	p.Q320L	FER_ENST00000438717.2_Missense_Mutation_p.Q145L|FER_ENST00000536402.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	320					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ATGCAAACACAGCAGATGCTT	0.338000													42	43					0	0	0.870114	0	0
SNHG14	104472715	broad.mit.edu	37	15	25232061	25232061	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:25232061G>T	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						GGAGTGGTAGGAGGAGGGTTG	0.463000													5	83					0.0215528	0.0219326	0.217242	1	0
FCRL1	115350	broad.mit.edu	37	1	157771975	157771975	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:157771975A>C	ENST00000358292.3	-	5	667	c.616T>G	c.(616-618)Tct>Gct	p.S206A	FCRL1_ENST00000491942.1_Missense_Mutation_p.S206A|FCRL1_ENST00000368176.3_Missense_Mutation_p.S206A|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	206						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATTGGGCGAGACACCGGGACT	0.582000													8	60					0	0	0.335167	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507485	64507485	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:64507485C>A	ENST00000377494.1	-	5	1444	c.522_splice	c.e5+1	p.L174_splice	RASGRP2_ENST00000377497.3_Splice_Site_p.L174_splice|RASGRP2_ENST00000394432.3_Splice_Site_p.L174_splice|RASGRP2_ENST00000354024.3_Splice_Site_p.L174_splice			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	174	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGGGCCGCACCAGGATCTTGC	0.607000													26	58					3.67414e-24	6.14863e-24	0.760397	1	0
OR7E24	26648	broad.mit.edu	37	19	9361777	9361777	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9361777G>A	ENST00000456448.1	+	1	172	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GAGCTACACAGAGCCACAGAA	0.458000													7	13					0	0	0.248553	0	0
SERPINB10	5273	broad.mit.edu	37	18	61584737	61584737	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:61584737T>C	ENST00000238508.3	+	3	275	c.216T>C	c.(214-216)agT>agC	p.S72S		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				ACCCTGAAAGTGAAAAAAAAA	0.279000													3	13					0	0	0.184627	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641210	161641210	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:161641210C>A	ENST00000367962.4	+	3	289	c.162C>A	c.(160-162)ctC>ctA	p.L54L	FCGR2B_ENST00000236937.9_Silent_p.L54L|FCGR2B_ENST00000428605.2_Silent_p.L54L|FCGR2B_ENST00000403078.3_Silent_p.L54L|FCGR2B_ENST00000367960.5_Silent_p.L47L|FCGR2B_ENST00000367961.4_Silent_p.L47L|FCGR2B_ENST00000358671.5_Silent_p.L54L			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	54	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCTGAAACTCGAGCCCCAGT	0.582000			T	?	ALL								25	52					2.12542e-12	2.83052e-12	0.706142	1	0
P2RX6	9127	broad.mit.edu	37	22	21377680	21377680	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:21377680G>A	ENST00000413302.2	+	7	903	c.755G>A	c.(754-756)gGg>gAg	p.G252E	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Missense_Mutation_p.G199E|P2RX6_ENST00000336296.2_Missense_Mutation_p.G242E|P2RX6_ENST00000401443.1_Missense_Mutation_p.G226E			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	252					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AAGGCTGGAGGGACCTTCGAG	0.627000													11	45					0	0	0.411799	0	0
GSDMD	79792	broad.mit.edu	37	8	144644999	144644999	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:144644999G>T	ENST00000526406.1	+	14	2263	c.1380G>T	c.(1378-1380)ccG>ccT	p.P460P	GSDMD_ENST00000262580.4_Silent_p.P460P|GSDMD_ENST00000533063.1_Silent_p.P508P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	460				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).						breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCTGGGAGCCGCAGGCCCAGG	0.682000													8	26					0.000274275	0.000292451	0.307466	1	0
CACNA1E	777	broad.mit.edu	37	1	181767564	181767564	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:181767564C>A	ENST00000526775.1	+	46	6515	c.6350C>A	c.(6349-6351)gCg>gAg	p.A2117E	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A2136E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A2068E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1743E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A2160E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A2130E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A2179E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2179					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTCGACACGCGGGCAGCATC	0.627000													31	61					9.17885e-22	1.48541e-21	0.779181	1	0
GRM1	2911	broad.mit.edu	37	6	146720441	146720441	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:146720441C>T	ENST00000392299.2	+	8	2736	c.2266C>T	c.(2266-2268)Cct>Tct	p.P756S	GRM1_ENST00000282753.1_Missense_Mutation_p.P756S|GRM1_ENST00000507907.1_Missense_Mutation_p.P756S|GRM1_ENST00000492807.2_Missense_Mutation_p.P756S|GRM1_ENST00000355289.4_Missense_Mutation_p.P756S|GRM1_ENST00000361719.2_Missense_Mutation_p.P756S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	756					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGTGGTGGCCCCTTTGGGCTA	0.512000													46	54					0	0	0.870114	0	0
XIRP1	165904	broad.mit.edu	37	3	39227743	39227743	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:39227743G>C	ENST00000340369.3	-	2	3422	c.3194C>G	c.(3193-3195)gCc>gGc	p.A1065G	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.A1065G	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1065							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGGCTCTGGGCTTCAGCTGT	0.632000													26	27					0	0	0.681144	0	0
PCDH10	57575	broad.mit.edu	37	4	134073168	134073168	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:134073168G>A	ENST00000264360.4	+	1	2699	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	625	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGTGGCAACGAAATGAACCT	0.687000													20	80					0	0	0.654019	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744805	62744805	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:62744805G>T	ENST00000377871.3	-	9	1682	c.1416C>A	c.(1414-1416)agC>agA	p.S472R	SLC22A6_ENST00000360421.4_Missense_Mutation_p.S472R|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	472					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCACCAGTGGGCTCACGATGC	0.622000													32	36					2.2171e-23	3.67272e-23	0.740014	1	0
EIF2AK4	440275	broad.mit.edu	37	15	40268812	40268812	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:40268812C>T	ENST00000263791.5	+	12	2059	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	EIF2AK4_ENST00000382727.2_Silent_p.S672S	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	672	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCCCGGACTCCGGGCCCCTGG	0.716000													7	7					0	0	0.278610	0	0
OR8K5	219453	broad.mit.edu	37	11	55926946	55926946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55926946G>T	ENST00000313447.1	-	1	847	c.848C>A	c.(847-849)cCc>cAc	p.P283H		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTTAAGCATGGGGATTACTAA	0.363000													41	48					2.215e-12	2.94783e-12	0.859065	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410091	105410091	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:105410091G>T	ENST00000333244.5	-	7	11816	c.11697C>A	c.(11695-11697)gtC>gtA	p.V3899V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3899						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTGAGGTCGACTTTGGGCA	0.577000													87	164					9.42799e-54	1.84518e-53	0.870114	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260145	90260145	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:90260145G>T	ENST00000471857.1	+	0	429																											GTCCCATCAAGGTTCAGTGGC	0.458000													34	35					4.00102e-26	6.84743e-26	0.819951	1	0
ZFR2	23217	broad.mit.edu	37	19	3816706	3816706	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:3816706C>A	ENST00000262961.4	-	13	2079	c.2069G>T	c.(2068-2070)cGg>cTg	p.R690L		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	690						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGCGATCCTCCGCAGCAGGCT	0.687000													10	29					1.49906e-05	1.65877e-05	0.457914	1	0
SBK2	646643	broad.mit.edu	37	19	56041235	56041235	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:56041235C>A	ENST00000413299.1	-	4	949	c.912G>T	c.(910-912)ctG>ctT	p.L304L	SBK2_ENST00000344158.3_Silent_p.L304L	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	304	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCAGCCCCCGCAGAAGCGCGT	0.741000													4	9					0.00909568	0.00932367	0.150653	1	0
KIFC1	3833	broad.mit.edu	37	6	33374368	33374368	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:33374368G>T	ENST00000428849.2	+	9	2277		c.e9-1			NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1						blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAATCATCTAGGAGTCCCACG	0.547000													55	63					3.86002e-21	6.16535e-21	0.870114	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105367322	105367322	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:105367322G>T	ENST00000297581.2	+	3	1296	c.1247G>T	c.(1246-1248)cGc>cTc	p.R416L	DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	416					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GAGAGGAAGCGCATCCAATAT	0.443000													16	171					3.62473e-10	4.55528e-10	0.608945	1	0
UGT2A1	10941	broad.mit.edu	37	4	70455213	70455213	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:70455213G>T	ENST00000503640.1	-	6	1516	c.1461C>A	c.(1459-1461)caC>caA	p.H487Q	UGT2A1_ENST00000512704.1_Missense_Mutation_p.H443Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.H496Q|UGT2A1_ENST00000514019.1_Missense_Mutation_p.H653Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.H487Q	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	487					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATCCAAAGAGTGGTACTGGA	0.468000													48	93					1.27334e-21	2.05895e-21	0.870114	1	0
SPATA20	64847	broad.mit.edu	37	17	48628429	48628429	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:48628429G>C	ENST00000006658.6	+	12	1574	c.1454G>C	c.(1453-1455)cGc>cCc	p.R485P	SPATA20_ENST00000393244.3_Missense_Mutation_p.R425P|SPATA20_ENST00000356488.4_Missense_Mutation_p.R469P|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	469					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACTGCTGCCCGCTTTGGCTTG	0.637000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	46					0	0	0.278610	0	0
GLDC	2731	broad.mit.edu	37	9	6604637	6604637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:6604637G>A	ENST00000321612.6	-	7	1159	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	337					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AAGCTTTCTCGGACAGCAAAA	0.502000													5	162					0	0	0.248553	0	0
NAPB	63908	broad.mit.edu	37	20	23360514	23360514	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:23360514T>C	ENST00000377026.4	-	9	810	c.725A>G	c.(724-726)aAa>aGa	p.K242R	NAPB_ENST00000432543.2_Missense_Mutation_p.K203R|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_Missense_Mutation_p.K148R	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	242					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					TTTCAATAATTTACATTCTCT	0.323000													6	36					0	0	0.278610	0	0
CDH8	1006	broad.mit.edu	37	16	61687791	61687791	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:61687791C>A	ENST00000577390.1	-	12	3075	c.2121G>T	c.(2119-2121)atG>atT	p.M707I	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Missense_Mutation_p.M707I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	707					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTGCCTTGGCATAAACTGCA	0.428000													37	45					1.07121e-22	1.7626e-22	0.827153	1	0
AMOTL1	154810	broad.mit.edu	37	11	94602640	94602640	+	Splice_Site	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:94602640T>A	ENST00000433060.2	+	12	2905		c.e12+2		AMOTL1_ENST00000317837.9_Splice_Site|AMOTL1_ENST00000317829.8_Splice_Site	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1							cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGAAACTGGGTATGTGGGCTA	0.607000													3	4					0	0	0.184627	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951811	30951811	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:30951811C>T	ENST00000402321.1	-	3	718	c.401G>A	c.(400-402)tGc>tAc	p.C134Y	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.C134Y|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.C134Y|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.C134Y|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.C134Y|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.C134Y|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.C134Y			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	134					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GATGTTGAAGCAGGCCCCGGG	0.637000													16	97					0	0	0.575678	0	0
TRIM42	287015	broad.mit.edu	37	3	140397297	140397297	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:140397297T>A	ENST00000286349.3	+	1	417	c.226T>A	c.(226-228)Tgt>Agt	p.C76S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	76	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGATCCCAACTGTAAGTGCTG	0.547000													25	71					0	0	0.693898	0	0
AP1B1	162	broad.mit.edu	37	22	29726403	29726403	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:29726403C>T	ENST00000357586.2	-	21	2916	c.2730G>A	c.(2728-2730)gcG>gcA	p.A910A	AP1B1_ENST00000317368.7_Silent_p.A883A|AP1B1_ENST00000432560.2_Silent_p.A903A|AP1B1_ENST00000415447.1_Silent_p.A903A|AP1B1_ENST00000402502.1_Silent_p.A903A|AP1B1_ENST00000356015.2_Silent_p.A903A|AP1B1_ENST00000405198.1_Silent_p.A910A	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	910					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCGCAGCTCCGCCAGCACCC	0.662000													4	59					0	0	0.217242	0	0
MDGA1	266727	broad.mit.edu	37	6	37618147	37618147	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:37618147G>T	ENST00000434837.2	-	8	2525	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	MDGA1_ENST00000297153.7_Silent_p.A449A|MDGA1_ENST00000505425.1_Silent_p.A449A	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	449	Ig-like 5.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGGTCACCACGGCCCTACCCT	0.687000													7	20					5.68852e-11	7.35611e-11	0.307466	1	0
SLC2A4	6517	broad.mit.edu	37	17	7189847	7189847	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:7189847G>C	ENST00000317370.8	+	11	1697	c.1429G>C	c.(1429-1431)Gac>Cac	p.D477H		NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	477					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CCGGACGTTTGACCAGATCTC	0.527000													135	140					0	0	0.870114	0	0
SLC9A4	389015	broad.mit.edu	37	2	103128707	103128707	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:103128707T>C	ENST00000295269.4	+	7	1991	c.1534T>C	c.(1534-1536)Tgg>Cgg	p.W512R		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	512					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTGTGGGCACTGGAGTCACTA	0.458000													30	113					0	0	0.804634	0	0
ZNF347	84671	broad.mit.edu	37	19	53645462	53645462	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:53645462A>T	ENST00000452676.2	-	5	1048	c.622T>A	c.(622-624)Tgt>Agt	p.C208S	ZNF347_ENST00000334197.7_Missense_Mutation_p.C207S|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C208S	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACCTGATTACATTCATAAATT	0.343000													11	38					0	0	0.387290	0	0
DDX50	79009	broad.mit.edu	37	10	70700858	70700858	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:70700858G>C	ENST00000373585.3	+	13	1905	c.1798G>C	c.(1798-1800)Gat>Cat	p.D600H	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	600						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GGAAATACAGGATGTCAGCTG	0.398000													10	36					0	0	0.361761	0	0
CD1A	909	broad.mit.edu	37	1	158226844	158226844	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:158226844C>A	ENST00000289429.5	+	4	1406	c.873C>A	c.(871-873)gtC>gtA	p.V291V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	291	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.V291V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGGACATCGTCCTCTACTGGG	0.572000													26	44					1.08312e-15	1.57144e-15	0.740014	1	0
MAN2A2	4122	broad.mit.edu	37	15	91452642	91452642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:91452642C>T	ENST00000360468.3	+	8	1300	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	MAN2A2_ENST00000559717.1_Nonsense_Mutation_p.R428*|MAN2A2_ENST00000431652.2_Silent_p.S3S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	428					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.R428*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGATGACTTCCGATATGACAA	0.552000													27	27					0	0	0.769981	0	0
ZEB1	6935	broad.mit.edu	37	10	31750087	31750087	+	Silent	SNP	C	C	T	rs142039874	byFrequency	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:31750087C>T	ENST00000446923.2	+	2	520	c.129C>T	c.(127-129)gaC>gaT	p.D43D	ZEB1_ENST00000320985.10_Silent_p.D60D|ZEB1_ENST00000560721.2_Silent_p.D60D|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.D60D|ZEB1_ENST00000542815.3_Intron	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	60					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGAGGATGACCTGCCAACAG	0.428000													26	50					0	0	0.729181	0	0
CLCNKA	1187	broad.mit.edu	37	1	16351313	16351313	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:16351313C>T	ENST00000375692.1	+	5	413	c.285C>T	c.(283-285)tcC>tcT	p.S95S	CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000331433.4_Silent_p.S95S|CLCNKA_ENST00000420078.1_Silent_p.S95S			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	95					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGTATCTTTCCTGGACTGTGT	0.627000													13	61					0	0	0.520397	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347788	140347788	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140347788G>C	ENST00000289269.5	+	1	1969	c.1437G>C	c.(1435-1437)caG>caC	p.Q479H	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		479	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTACATACAGGAGAACAATT	0.498000													134	80					0	0	0.870114	0	0
DMXL1	1657	broad.mit.edu	37	5	118580248	118580248	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:118580248G>A	ENST00000311085.8	+	42	8916	c.8836G>A	c.(8836-8838)Gga>Aga	p.G2946R	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.G2967R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2946										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTTGTTACAGGATCTGCCGA	0.398000													18	23					0	0	0.575678	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541800	133541800	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:133541800C>G	ENST00000409261.1	-	14	2957	c.2584G>C	c.(2584-2586)Gat>Cat	p.D862H	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D862H|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	862							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGTGTGGATCTGATCGTAAT	0.542000													21	61					0	0	0.592651	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754785	94754785	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:94754785G>T	ENST00000554723.1	-	3	1368	c.950C>A	c.(949-951)tCc>tAc	p.S317Y	SERPINA10_ENST00000261994.4_Missense_Mutation_p.S277Y|SERPINA10_ENST00000393096.1_Missense_Mutation_p.S277Y|SERPINA10_ENST00000554173.1_Missense_Mutation_p.S277Y			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	277					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GTCAAAGGTGGAGGCAAACTT	0.502000													20	80					4.35082e-09	5.29161e-09	0.592651	1	0
MORC1	27136	broad.mit.edu	37	3	108703575	108703575	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:108703575G>A	ENST00000232603.5	-	23	2394	c.2312C>T	c.(2311-2313)cCt>cTt	p.P771L	MORC1_ENST00000483760.1_Missense_Mutation_p.P750L	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	771					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCCAGCTAGGTAATGAAGA	0.348000													8	46					0	0	0.361761	0	0
EHD3	30845	broad.mit.edu	37	2	31483541	31483541	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:31483541A>G	ENST00000322054.5	+	4	953	c.668A>G	c.(667-669)cAg>cGg	p.Q223R	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	223					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AAAGCTGACCAGATCGAGACG	0.557000													9	45					0	0	0.335167	0	0
TIE1	7075	broad.mit.edu	37	1	43773165	43773165	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:43773165C>A	ENST00000372476.3	+	6	914	c.835C>A	c.(835-837)Cgg>Agg	p.R279R	TIE1_ENST00000538015.1_Silent_p.R279R|TIE1_ENST00000441333.2_Silent_p.R279R|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	279	EGF-like 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCAGGCTGCCGGGGCCTCAC	0.602000													21	31					2.89027e-11	3.76733e-11	0.624587	1	0
ABCG5	64240	broad.mit.edu	37	2	44051162	44051162	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:44051162A>G	ENST00000543989.1	-	5	1734	c.29T>C	c.(28-30)cTg>cCg	p.L10P	ABCG5_ENST00000405322.1_Missense_Mutation_p.L234P|ABCG5_ENST00000260645.1_Missense_Mutation_p.L405P			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	405					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCGGACCCGCAGAACGAAGAA	0.512000													15	68					0	0	0.479597	0	0
LCP1	3936	broad.mit.edu	37	13	46726969	46726969	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:46726969A>G	ENST00000398576.2	-	10	1073	c.685T>C	c.(685-687)Tgg>Cgg	p.W229R	LCP1_ENST00000323076.2_Missense_Mutation_p.W229R			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	229	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATGACTTGCCACAGAAGTCCC	0.488000			T	BCL6	NHL								4	42					0	0	0.184627	0	0
NID2	22795	broad.mit.edu	37	14	52494052	52494052	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:52494052T>A	ENST00000216286.5	-	12	2540	c.2541A>T	c.(2539-2541)ccA>ccT	p.P847P	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	847						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGTTGGCAGGTGGGGTGATCA	0.567000													7	17					0	0	0.387290	0	0
PSKH2	85481	broad.mit.edu	37	8	87060782	87060782	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:87060782G>T	ENST00000276616.2	-	3	1141	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	356							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TGACTTAGAAGACTGTGCAGA	0.488000													87	52					5.00475e-40	9.41929e-40	0.870114	1	0
GPRIN3	285513	broad.mit.edu	37	4	90169636	90169636	+	Silent	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:90169636A>G	ENST00000333209.3	-	2	2144	c.1626T>C	c.(1624-1626)tcT>tcC	p.S542S		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	542										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTACCTGAGGAGATGCAGGCT	0.453000													8	25					0	0	0.278610	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204379	125204379	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:125204379C>A	ENST00000431078.1	+	6	1147	c.783C>A	c.(781-783)ggC>ggA	p.G261G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	261	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCACCCTGGGCAGCCTCCTGG	0.602000													10	59					2.17888e-05	2.40289e-05	0.335167	1	0
VRTN	55237	broad.mit.edu	37	14	74823804	74823804	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:74823804C>A	ENST00000256362.4	+	2	559	c.318C>A	c.(316-318)gcC>gcA	p.A106A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	106					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGCTGCGGGCCCGCACCGTGG	0.642000													12	21					0.00010058	0.000109022	0.411799	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156931505	156931505	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:156931505C>T	ENST00000368194.3	-	14	2242	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	ARHGEF11_ENST00000361409.2_Silent_p.G361G	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	361	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGATGTCTTTCCCCAAGCTTC	0.433000													28	51					0	0	0.847076	0	0
RGPD4	285190	broad.mit.edu	37	2	108499191	108499191	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:108499191G>T	ENST00000408999.3	+	22	5205	c.5128G>T	c.(5128-5130)Gtg>Ttg	p.V1710L	RGPD4_ENST00000354986.4_Missense_Mutation_p.V1710L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1710	GRIP.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGCAGCTAACGTGGAACACTT	0.408000													17	52					0.000132079	0.000143007	0.575678	1	0
HSPA1L	3305	broad.mit.edu	37	6	31779206	31779206	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:31779206C>A	ENST00000375654.4	-	2	733	c.544G>T	c.(544-546)Gcc>Tcc	p.A182S	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A182S	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	182					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TAGGCAATGGCAGCAGCCGTG	0.458000													64	56					2.20561e-19	3.41453e-19	0.870114	1	0
DRC1	92749	broad.mit.edu	37	2	26679340	26679340	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:26679340A>T	ENST00000288710.2	+	17	2252	c.2178A>T	c.(2176-2178)gaA>gaT	p.E726D		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		TCAACTCTGAACTGCAAGTTC	0.557000													17	79					0	0	0.575678	0	0
EVI5	7813	broad.mit.edu	37	1	93091372	93091372	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:93091372C>T	ENST00000370331.1	-	13	1608	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Silent_p.K533K|EVI5_ENST00000543509.1_Silent_p.K544K	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	533	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCTCTAAATCCTTGACTTGCT	0.348000													23	98					0	0	0.706142	0	0
MAU2	23383	broad.mit.edu	37	19	19452187	19452187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:19452187C>T	ENST00000392313.5	+	7	752	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Nonsense_Mutation_p.Q236*	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	236					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CCTGGTGCTCCAGGTCACCCA	0.637000													15	36					0	0	0.575678	0	0
CACNA1B	774	broad.mit.edu	37	9	141014739	141014739	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:141014739C>G	ENST00000277549.5	+	45	6304	c.3735C>G	c.(3733-3735)caC>caG	p.H1245Q	CACNA1B_ENST00000277551.2_Missense_Mutation_p.H2051Q|CACNA1B_ENST00000371355.4_Missense_Mutation_p.H2052Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.H2050Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.H2049Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.H2051Q			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2051					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGTCGCACCACCACCACCACC	0.701000													2	3					0	0	0.115264	0	0
DRD2	1813	broad.mit.edu	37	11	113288785	113288785	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:113288785G>A	ENST00000362072.3	-	3	703	c.359C>T	c.(358-360)gCg>gTg	p.A120V	DRD2_ENST00000346454.3_Missense_Mutation_p.A120V|DRD2_ENST00000538967.1_Missense_Mutation_p.A120V|DRD2_ENST00000542968.1_Missense_Mutation_p.A120V|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000544518.1_Missense_Mutation_p.A119V|DRD2_ENST00000355319.2_Missense_Mutation_p.A120V	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	120					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAGGATGCTCGCCGTGCACAT	0.542000													35	70					0	0	0.864702	0	0
XPO6	23214	broad.mit.edu	37	16	28112947	28112947	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:28112947G>A	ENST00000304658.5	-	23	3608	c.3108C>T	c.(3106-3108)caC>caT	p.H1036H	XPO6_ENST00000565698.1_Silent_p.H1022H	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1036					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CATGGGACTTGTGGACCAGGA	0.567000													32	60					0	0	0.827153	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008813	142008813	+	RNA	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:142008813C>T	ENST00000390387.3	+	0	333																											CTTAAATCTTCACATCAATTC	0.433000													39	49					0	0	0.859065	0	0
MUC16	94025	broad.mit.edu	37	19	9086338	9086338	+	Missense_Mutation	SNP	T	T	A	rs35717277		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9086338T>A	ENST00000397910.4	-	1	5680	c.5477A>T	c.(5476-5478)gAg>gTg	p.E1826V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1826	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGTCACCTCCATTGATGG	0.483000													23	69					0	0	0.706142	0	0
UBA6	55236	broad.mit.edu	37	4	68547298	68547298	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:68547298C>T	ENST00000322244.4	-	4	300	c.241G>A	c.(241-243)Gtt>Att	p.V81I	UBA6_ENST00000420827.2_Missense_Mutation_p.V81I	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	81					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CCTGCAAGAACAAGATTCTTT	0.333000													13	53					0	0	0.500413	0	0
TCHH	7062	broad.mit.edu	37	1	152080392	152080392	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:152080392C>A	ENST00000368804.1	-	2	5300	c.5301G>T	c.(5299-5301)caG>caT	p.Q1767H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1767	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGCGCTCCTGGCGGCGCA	0.592000													22	88					5.35356e-11	6.93208e-11	0.639603	1	0
ANAPC16	119504	broad.mit.edu	37	10	73990158	73990158	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:73990158T>C	ENST00000299381.4	+	3	295	c.177T>C	c.(175-177)ttT>ttC	p.F59F	ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16	59					cell division|mitosis|protein ubiquitination	anaphase-promoting complex|cytoplasm				large_intestine(1)|ovary(1)	2						AATCTGTTTTTAGCTATCAAG	0.408000													37	33					0	0	0.870114	0	0
GPR112	139378	broad.mit.edu	37	X	135427292	135427292	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:135427292C>A	ENST00000394143.1	+	6	1718	c.1427C>A	c.(1426-1428)aCa>aAa	p.T476K	GPR112_ENST00000412101.1_Missense_Mutation_p.T271K|GPR112_ENST00000394141.1_Missense_Mutation_p.T271K|GPR112_ENST00000287534.4_Missense_Mutation_p.T413K|GPR112_ENST00000370652.1_Missense_Mutation_p.T476K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	476					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCATCTCCACAGCTGCTCCA	0.448000													29	25					6.70999e-13	9.03409e-13	0.796494	1	0
CPNE7	27132	broad.mit.edu	37	16	89662950	89662950	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:89662950A>T	ENST00000268720.5	+	17	1953	c.1823A>T	c.(1822-1824)gAg>gTg	p.E608V	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Missense_Mutation_p.E533V	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	608					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CAGGTGGTGGAGTACTACAGC	0.662000													19	81					0	0	0.592651	0	0
CAMK2B	816	broad.mit.edu	37	7	44282250	44282250	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:44282250A>G	ENST00000395749.2	-	9	681	c.605T>C	c.(604-606)gTg>gCg	p.V202A	CAMK2B_ENST00000258682.6_Missense_Mutation_p.V202A|CAMK2B_ENST00000440254.2_Missense_Mutation_p.V202A|CAMK2B_ENST00000457475.1_Missense_Mutation_p.V202A|CAMK2B_ENST00000502837.2_Missense_Mutation_p.V73A|CAMK2B_ENST00000346990.4_Missense_Mutation_p.V202A|CAMK2B_ENST00000395747.2_Missense_Mutation_p.V202A|CAMK2B_ENST00000358707.3_Missense_Mutation_p.V202A|CAMK2B_ENST00000353625.4_Missense_Mutation_p.V202A|CAMK2B_ENST00000350811.3_Missense_Mutation_p.V202A|CAMK2B_ENST00000347193.4_Missense_Mutation_p.V202A	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	202	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GTACAGGATCACCCCTGCGGA	0.627000													6	14					0	0	0.248553	0	0
MMP8	4317	broad.mit.edu	37	11	102587108	102587108	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:102587108G>T	ENST00000236826.3	-	6	925	c.827C>A	c.(826-828)cCc>cAc	p.P276H		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	276					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	p.P276H(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACAGGGTTTGGGTGTGCTTGG	0.378000													54	113					2.09306e-48	4.05596e-48	0.870114	1	0
STXBP5L	9515	broad.mit.edu	37	3	121134767	121134767	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:121134767A>G	ENST00000273666.6	+	26	3521	c.3250A>G	c.(3250-3252)Aag>Gag	p.K1084E	STXBP5L_ENST00000471454.1_Missense_Mutation_p.K1060E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1084					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGGCTTTCTCAAGGGACTGTT	0.393000													29	75					0	0	0.804634	0	0
AP5Z1	9907	broad.mit.edu	37	7	4824652	4824652	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:4824652C>T	ENST00000348624.4	+	7	998	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	AP5Z1_ENST00000401897.1_Nonsense_Mutation_p.Q302*	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	302					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CGAGTACTGCCAGCGCCTCAT	0.692000													24	44					0	0	0.654019	0	0
FRMD4B	23150	broad.mit.edu	37	3	69271058	69271058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:69271058C>A	ENST00000542259.1	-	10	971	c.520G>T	c.(520-522)Gag>Tag	p.E174*	FRMD4B_ENST00000398540.3_Nonsense_Mutation_p.E228*			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	228	FERM.					cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		AAATAATGCTCAATTACCCTG	0.373000													4	5					0.00116845	0.00122524	0.217242	1	0
CPED1	79974	broad.mit.edu	37	7	120782111	120782111	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:120782111G>C	ENST00000310396.5	+	16	2438	c.1971G>C	c.(1969-1971)ctG>ctC	p.L657L	CPED1_ENST00000450913.2_Silent_p.L657L|CPED1_ENST00000423795.1_Silent_p.L437L	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GTGAGACTCTGATCACGTACA	0.468000													128	132					0	0	0.870114	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916181	149916181	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:149916181C>A	ENST00000369135.3	-	12	2401	c.2107G>T	c.(2107-2109)Ggg>Tgg	p.G703W		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	703					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ACTCCGCCCCCAGACGGCCGA	0.642000													34	62					1.07637e-12	1.4472e-12	0.804634	1	0
NUMB	8650	broad.mit.edu	37	14	73743885	73743885	+	Missense_Mutation	SNP	C	C	A	rs144913219		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:73743885C>A	ENST00000556772.1	-	7	3212	c.925G>T	c.(925-927)Gct>Tct	p.A309S	NUMB_ENST00000355058.3_Missense_Mutation_p.A453S|NUMB_ENST00000560335.1_Missense_Mutation_p.A307S|NUMB_ENST00000559312.1_Missense_Mutation_p.A258S|NUMB_ENST00000557597.1_Missense_Mutation_p.A442S|NUMB_ENST00000555738.2_Missense_Mutation_p.A296S|NUMB_ENST00000554546.1_Missense_Mutation_p.A394S|NUMB_ENST00000555394.1_Missense_Mutation_p.A405S|NUMB_ENST00000555238.1_Missense_Mutation_p.A453S|NUMB_ENST00000554521.2_Missense_Mutation_p.A247S|NUMB_ENST00000544991.3_Missense_Mutation_p.A258S|NUMB_ENST00000535282.1_Missense_Mutation_p.A442S|NUMB_ENST00000356296.4_Missense_Mutation_p.A405S|NUMB_ENST00000454166.4_Missense_Mutation_p.A307S|NUMB_ENST00000359560.3_Missense_Mutation_p.A442S			P49757	NUMB_HUMAN	numb homolog (Drosophila)	453					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GGCTGCTGAGCCCGGACGCTC	0.607000													15	34					2.31682e-05	2.55215e-05	0.479597	1	0
ALDH16A1	126133	broad.mit.edu	37	19	49967495	49967495	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:49967495G>T	ENST00000293350.4	+	10	1469	c.1306G>T	c.(1306-1308)Ggg>Tgg	p.G436W	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.G385W|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.G273W|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.G271W	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	436							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGAGAGGCTGGGGCAGGCGCT	0.677000													10	17					1.33987e-11	1.76521e-11	0.361761	1	0
STIM2	57620	broad.mit.edu	37	4	27010420	27010420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:27010420G>T	ENST00000382009.3	+	11	1837	c.1570G>T	c.(1570-1572)Gaa>Taa	p.E524*	STIM2_ENST00000237364.5_Nonsense_Mutation_p.E516*|STIM2_ENST00000412829.2_Nonsense_Mutation_p.E516*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.E429*|STIM2_ENST00000467011.1_Nonsense_Mutation_p.E429*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.E437*	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	429					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTGTTTACGAGAACGACTTTT	0.413000													14	37					1.3612e-06	1.54901e-06	0.479597	1	0
KMT2A	4297	broad.mit.edu	37	11	118366474	118366474	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:118366474G>T	ENST00000534358.1	+	19	5446	c.5423G>T	c.(5422-5424)tGg>tTg	p.W1808L	KMT2A_ENST00000354520.4_Missense_Mutation_p.W1767L|KMT2A_ENST00000389506.5_Missense_Mutation_p.W1805L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TATGCTCAGTGGCAGGAGCGA	0.453000													55	102					3.8128e-34	6.96884e-34	0.870114	1	0
GPR179	440435	broad.mit.edu	37	17	36485794	36485794	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:36485794C>A	ENST00000342292.4	-	11	3678	c.3658G>T	c.(3658-3660)Gtc>Ttc	p.V1220F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1220						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCCACCCGACAGGGGTTTCT	0.557000													37	130					2.40579e-17	3.61053e-17	0.819951	1	0
NEU2	4759	broad.mit.edu	37	2	233899040	233899040	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:233899040C>A	ENST00000233840.3	+	2	416	c.416C>A	c.(415-417)cCc>cAc	p.P139H		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	139							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TGGAGCTCCCCCAGAGACCTC	0.657000													21	27					6.44725e-10	8.05086e-10	0.624587	1	0
TTN	7273	broad.mit.edu	37	2	179596306	179596306	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179596306G>A	ENST00000589042.1	-	59	17411	c.17187C>T	c.(17185-17187)ccC>ccT	p.P5729P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.P4485P|TTN_ENST00000591111.1_Silent_p.P5412P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5412	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGGATGGGGGTTCTAACA	0.463000													6	14					0	0	0.217242	0	0
TTL	150465	broad.mit.edu	37	2	113258918	113258918	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:113258918G>T	ENST00000233336.5	+	4	796	c.605_splice	c.e4+1	p.R202_splice		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	202	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTGACATCCGGTAATGCATT	0.458000			T	ETV6	ALL								5	14					0.00116845	0.00122524	0.217242	1	0
ABCB5	340273	broad.mit.edu	37	7	20685746	20685746	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:20685746C>T	ENST00000404938.2	+	9	1618	c.966C>T	c.(964-966)atC>atT	p.I322I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	506	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATATACCATCGGGACTGTTC	0.398000													7	49					0	0	0.307466	0	0
SP100	6672	broad.mit.edu	37	2	231406733	231406733	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:231406733C>A	ENST00000340126.4	+	28	2561	c.2530C>A	c.(2530-2532)Cac>Aac	p.H844N	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTTTCATAACCACAAGGAATT	0.423000													20	78					3.62473e-10	4.55528e-10	0.608945	1	0
HDAC9	9734	broad.mit.edu	37	7	18669105	18669105	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:18669105G>T	ENST00000406451.3	+	7	937		c.e7+1		HDAC9_ENST00000441542.2_Splice_Site|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000432645.2_Splice_Site|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000456174.2_Splice_Site|HDAC9_ENST00000405010.3_Splice_Site|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000428307.2_Intron	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGGTGACAGGTAATTGAGGA	0.393000													20	51					6.36457e-07	7.31051e-07	0.667858	1	0
P4HA3	283208	broad.mit.edu	37	11	73988087	73988087	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:73988087C>A	ENST00000331597.4	-	9	1323	c.1278G>T	c.(1276-1278)ctG>ctT	p.L426L	P4HA3_ENST00000427714.2_Silent_p.L426L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	426	Fe2OG dioxygenase.					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCACCACCTGCAGATACTCTG	0.557000													25	50					7.07758e-08	8.33931e-08	0.681144	1	0
IGLV1-51	28820	broad.mit.edu	37	22	22677187	22677187	+	RNA	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:22677187A>T	ENST00000390290.2	+	0	251				LL22NC03-80A10.6_ENST00000426066.1_RNA																							TATGACAATAATAAGCGACCC	0.542000													6	169					0	0	0.278610	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586644	15586644	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:15586644C>A	ENST00000292609.4	-	2	966	c.837G>T	c.(835-837)ggG>ggT	p.G279G	PGLYRP2_ENST00000340880.4_Silent_p.G279G			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	279					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAAGGATGACCCCATCCAGGG	0.622000													14	35					1.01871e-10	1.30787e-10	0.575678	1	0
SNHG14	104472715	broad.mit.edu	37	15	25474179	25474179	+	RNA	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:25474179G>C	ENST00000453082.2	+	0	1370				SNORD115-32_ENST00000364079.1_RNA	NR_003343.1																						ATGTTCAATAGGATTACGCTG	0.493000													81	169					0	0	0.870114	0	0
NPC1	4864	broad.mit.edu	37	18	21113482	21113482	+	Splice_Site	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:21113482C>T	ENST00000269228.5	-	24	4146		c.e24-1		NPC1_ENST00000412552.2_Splice_Site	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1						autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CACTGAACACCTAAAAGAAGA	0.373000													13	40					0	0	0.500413	0	0
C22orf42	150297	broad.mit.edu	37	22	32554986	32554986	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:32554986G>T	ENST00000382097.3	-	1	289	c.217C>A	c.(217-219)Ctg>Atg	p.L73M		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	73			L -> P (in dbSNP:rs5998267).							NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GACATCTTCAGCATCTTCGGC	0.552000													87	121					2.13719e-29	3.78296e-29	0.870114	1	0
OSCAR	126014	broad.mit.edu	37	19	54600389	54600389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:54600389G>T	ENST00000284648.6	-	4	330	c.133C>A	c.(133-135)Cct>Act	p.P45T	OSCAR_ENST00000358375.4_Missense_Mutation_p.P45T|OSCAR_ENST00000359649.4_Missense_Mutation_p.P49T|OSCAR_ENST00000391761.1_Missense_Mutation_p.P34T|OSCAR_ENST00000351806.4_Missense_Mutation_p.P34T|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Missense_Mutation_p.P49T			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	45	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					TTGACCCCAGGGGTCACAACT	0.607000													34	55					2.24893e-16	3.3168e-16	0.847076	1	0
FAM47A	158724	broad.mit.edu	37	X	34148840	34148840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:34148840G>T	ENST00000346193.3	-	1	1607	c.1556C>A	c.(1555-1557)tCg>tAg	p.S519*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	519										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGGCTCCGAGCGGAGACT	0.662000													10	14					1.58986e-06	1.80608e-06	0.361761	1	0
RALGAPA2	57186	broad.mit.edu	37	20	20493244	20493244	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:20493244C>T	ENST00000202677.6	-	32	4911	c.4769G>A	c.(4768-4770)gGg>gAg	p.G1590E		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1590					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGAGGGCTGCCCTTGGCTGGT	0.463000													12	18					0	0	0.435327	0	0
SCN4A	6329	broad.mit.edu	37	17	62034746	62034746	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:62034746C>A	ENST00000435607.1	-	13	2228	c.2152G>T	c.(2152-2154)Ggc>Tgc	p.G718C	SCN4A_ENST00000578147.1_Missense_Mutation_p.G718C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	718					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGCTGCATGCCCACCACGGCG	0.542000													31	31					1.08052e-11	1.42449e-11	0.796494	1	0
MAP10	54627	broad.mit.edu	37	1	232943627	232943627	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:232943627A>T	ENST00000418460.1	+	1	2985	c.2858A>T	c.(2857-2859)cAg>cTg	p.Q953L		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AAAGAAAACCAGATAGATCAA	0.328000													6	33					0	0	0.248553	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093706	69093706	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:69093706C>A	ENST00000332644.5	-	10	1335	c.1174G>T	c.(1174-1176)Ggt>Tgt	p.G392C		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	392	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TTCTTTTTACCACATCCATCA	0.393000													18	35					0.000375601	0.000400057	0.639603	1	0
NOD2	64127	broad.mit.edu	37	16	50745598	50745598	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:50745598G>T	ENST00000300589.2	+	4	1881	c.1776G>T	c.(1774-1776)gtG>gtT	p.V592V		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	592	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AAGGTGTCGTGCCAGGGAGTA	0.577000													11	19					1.08611e-07	1.27134e-07	0.387290	1	0
COL4A5	1287	broad.mit.edu	37	X	107844633	107844633	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:107844633G>T	ENST00000328300.6	+	26	2203	c.1959G>T	c.(1957-1959)ggG>ggT	p.G653G	COL4A5_ENST00000361603.2_Silent_p.G653G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	653	Triple-helical region.		G -> R (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTCCTAAAGGGGATCCAGGTC	0.403000									Alport syndrome with Diffuse Leiomyomatosis				18	14					6.94344e-10	8.6375e-10	0.539581	1	0
HOXD9	3235	broad.mit.edu	37	2	176988902	176988902	+	Nonstop_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:176988902G>T	ENST00000249499.6	+	2	1467	c.1058G>T	c.(1057-1059)tGa>tTa	p.*353L	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	0						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AAAGGAGACTGACCCGGCGCG	0.493000													33	68					1.39193e-11	1.83256e-11	0.870114	1	0
TCL6	27004	broad.mit.edu	37	14	96135818	96135818	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:96135818G>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		cgcctacctcggcctcccaaa	0.512000			T	TRA@	T-ALL								8	11					0.0381472	0.0386792	0.278610	1	0
ANK2	287	broad.mit.edu	37	4	114276441	114276441	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:114276441C>A	ENST00000357077.4	+	38	6720	c.6667C>A	c.(6667-6669)Cct>Act	p.P2223T	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2190T|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2190					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGAGGGGACCCCTCAGATTAG	0.507000													28	59					1.61788e-16	2.39329e-16	0.760397	1	0
RYR2	6262	broad.mit.edu	37	1	237664160	237664160	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:237664160G>T	ENST00000366574.2	+	21	2670	c.2353G>T	c.(2353-2355)Gat>Tat	p.D785Y	RYR2_ENST00000360064.6_Missense_Mutation_p.D783Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D769Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	785	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCAACATCGATGGCCTCTT	0.403000													23	55					4.26978e-12	5.64796e-12	0.654019	1	0
GPRC6A	222545	broad.mit.edu	37	6	117121861	117121861	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:117121861G>C	ENST00000310357.3	-	4	1455	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	GPRC6A_ENST00000530250.1_Silent_p.L303L|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	478					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTCCTTCCAGAGCACAACAT	0.383000													50	53					0	0	0.870114	0	0
SHE	126669	broad.mit.edu	37	1	154471587	154471587	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:154471587C>A	ENST00000304760.2	-	2	805		c.e2+1			NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E											breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCTTACAAACCTGTTATCAT	0.438000													19	60					3.7963e-18	5.77238e-18	0.654019	1	0
BMP7	655	broad.mit.edu	37	20	55758946	55758946	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:55758946G>A	ENST00000395863.3	-	4	1295	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.L264L|BMP7_ENST00000395864.3_Intron	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	264					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CGCCCAATCAGGCCCGCCAAC	0.627000													3	25					0	0	0.115264	0	0
APOB	338	broad.mit.edu	37	2	21235158	21235158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:21235158G>A	ENST00000233242.1	-	26	4709	c.4582C>T	c.(4582-4584)Caa>Taa	p.Q1528*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1528					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGTGCCTTGGAGGTAGGAG	0.488000													21	41					0	0	0.667858	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554489	140554489	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140554489G>T	ENST00000231137.3	+	1	2247	c.2073G>T	c.(2071-2073)gcG>gcT	p.A691A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		691					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGTGGCGTTGGCCTCGG	0.706000													110	594					9.05284e-58	1.78421e-57	0.870114	1	0
SH3D19	152503	broad.mit.edu	37	4	152086802	152086802	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:152086802T>A	ENST00000409598.4	-	8	1908	c.741A>T	c.(739-741)gcA>gcT	p.A247A	SH3D19_ENST00000304527.4_Silent_p.A247A|SH3D19_ENST00000514152.1_Silent_p.A247A|SH3D19_ENST00000455740.1_Silent_p.A247A|SH3D19_ENST00000424281.1_Intron|SH3D19_ENST00000409252.2_Silent_p.A247A|SH3D19_ENST00000427414.2_Intron			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	247	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CTGGTTGAACTGCTCGTTCTT	0.388000													16	85					0	0	0.575678	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657655	18657655	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:18657655G>C	ENST00000380548.4	+	8	1192	c.853G>C	c.(853-855)Gct>Cct	p.A285P	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A285P|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A285P|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A285P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	285						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCGGGCTCCGCTGACAGTAC	0.498000													54	26					0	0	0.870114	0	0
OR4K5	79317	broad.mit.edu	37	14	20389262	20389262	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:20389262T>A	ENST00000315915.4	+	1	522	c.497T>A	c.(496-498)cTg>cAg	p.L166Q		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTGTGAACCTGCCTTTTTGT	0.438000													135	564					0	0	0.870114	0	0
R3HDM1	23518	broad.mit.edu	37	2	136481666	136481666	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:136481666G>T	ENST00000264160.4	+	26	3474	c.3104G>T	c.(3103-3105)gGg>gTg	p.G1035V	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G906V|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G980V|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G1036V|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G907V	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1035							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TGTGGCAGTGGGGACAACACT	0.562000													22	51					5.61819e-17	8.39947e-17	0.693898	1	0
LMTK2	22853	broad.mit.edu	37	7	97821535	97821535	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:97821535G>C	ENST00000297293.5	+	11	2051	c.1758G>C	c.(1756-1758)ctG>ctC	p.L586L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	586					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCCTGAACTGTCCCAGCTCA	0.502000													44	49					0	0	0.870114	0	0
OR4C3	256144	broad.mit.edu	37	11	48346737	48346737	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:48346737C>A	ENST00000319856.4	+	1	266	c.245C>A	c.(244-246)tCc>tAc	p.S82Y		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ACGCTGGCTTCCCCTGTGTAT	0.458000													14	32					2.31682e-05	2.55215e-05	0.479597	1	0
KRT35	3886	broad.mit.edu	37	17	39635108	39635108	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:39635108G>A	ENST00000246639.2	-	4	893	c.761C>T	c.(760-762)gCt>gTt	p.A254V	KRT35_ENST00000393989.1_Missense_Mutation_p.A284V			Q92764	KRT35_HUMAN	keratin 35	284	Linker 12.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCAGTCTTCAGCATCCCGGCG	0.552000													15	139					0	0	0.557998	0	0
PCBP1	5093	broad.mit.edu	37	2	70314904	70314904	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:70314904T>G	ENST00000303577.5	+	1	320	c.29T>G	c.(28-30)cTa>cGa	p.L10R	PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	10					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GAAAGTGGACTAAATGTGACT	0.577000													25	99					0	0	0.769981	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026338	129026338	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:129026338C>T	ENST00000259241.6	-	2	647	c.634G>A	c.(634-636)Gat>Aat	p.D212N		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	212					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GTGCGCCCATCACACATATGC	0.637000													5	86					0	0	0.217242	0	0
TMEM131	23505	broad.mit.edu	37	2	98418391	98418391	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:98418391C>G	ENST00000186436.5	-	25	2913	c.2685G>C	c.(2683-2685)ttG>ttC	p.L895F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	895						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTAGTGTTCTCAAATCTATCT	0.274000													8	53					0	0	0.361761	0	0
TMEM104	54868	broad.mit.edu	37	17	72832373	72832373	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:72832373C>A	ENST00000335464.5	+	10	1200	c.1038C>A	c.(1036-1038)gaC>gaA	p.D346E	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.D346E|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	346						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CGCGCTGTGACGTCGTGGGCC	0.607000													104	159					1.76152e-51	3.43724e-51	0.870114	1	0
XIRP2	129446	broad.mit.edu	37	2	168100129	168100129	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:168100129G>T	ENST00000409195.1	+	9	2316	c.2227G>T	c.(2227-2229)Gtt>Ttt	p.V743F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V521F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V743F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	568					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCATTATATGTTATTAGAGA	0.373000													13	45					2.27111e-07	2.64111e-07	0.411799	1	0
LRRK1	79705	broad.mit.edu	37	15	101528857	101528857	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:101528857G>T	ENST00000284395.5	+	6	843	c.443G>T	c.(442-444)cGg>cTg	p.R148L	LRRK1_ENST00000388948.3_Missense_Mutation_p.R151L|LRRK1_ENST00000532029.2_Missense_Mutation_p.R151L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	151					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGTCCCCAGCGGCTTCTGAAC	0.617000													61	64					2.23399e-28	3.91897e-28	0.870114	1	0
COL6A3	1293	broad.mit.edu	37	2	238277615	238277615	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:238277615G>T	ENST00000295550.4	-	10	4943	c.4491C>A	c.(4489-4491)gcC>gcA	p.A1497A	COL6A3_ENST00000353578.4_Silent_p.A1291A|COL6A3_ENST00000346358.4_Silent_p.A1297A|COL6A3_ENST00000472056.1_Silent_p.A890A|COL6A3_ENST00000347401.3_Silent_p.A1296A|COL6A3_ENST00000409809.1_Silent_p.A1291A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1497	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGCACCGGGGCCTGGGATC	0.537000													10	29					6.40141e-05	6.98497e-05	0.387290	1	0
DMBX1	127343	broad.mit.edu	37	1	46972776	46972776	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:46972776C>A	ENST00000371956.4	+	1	109	c.94C>A	c.(94-96)Cag>Aag	p.Q32K	DMBX1_ENST00000360032.3_Missense_Mutation_p.Q32K	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	32	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCAGCAGGCCCAGCATGCCCC	0.637000													36	53					6.70999e-13	9.03409e-13	0.796494	1	0
GJD2	57369	broad.mit.edu	37	15	35044820	35044820	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:35044820C>A	ENST00000290374.4	-	2	1301	c.825G>T	c.(823-825)ctG>ctT	p.L275L		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	275					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGCGCCATCCCAGGTGGTTGA	0.512000													53	85					3.36121e-32	6.09238e-32	0.870114	1	0
CD300LB	124599	broad.mit.edu	37	17	72522107	72522107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:72522107G>T	ENST00000392621.1	-	2	265	c.261C>A	c.(259-261)tgC>tgA	p.C87*	CD300LB_ENST00000314401.3_Nonsense_Mutation_p.C87*	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	50	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.C87C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GCACCCCTCGGCACCACCACT	0.547000													53	244					2.01871e-26	3.46393e-26	0.870114	1	0
KCNN3	3782	broad.mit.edu	37	1	154744779	154744779	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:154744779C>G	ENST00000271915.3	-	3	1435	c.1120G>C	c.(1120-1122)Gcc>Ccc	p.A374P	KCNN3_ENST00000358505.2_Missense_Mutation_p.A61P|KCNN3_ENST00000361147.4_Missense_Mutation_p.A69P	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	379						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGTGGATGGCGCACACCAGC	0.607000													17	38					0	0	0.557998	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190208	50190208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:50190208G>A	ENST00000335999.6	-	8	1636	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	475	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CGGGGGAGCTGGGGACTGAGC	0.657000													11	8					0	0	0.387290	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214105	1214105	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:1214105C>T	ENST00000304460.10	+	6	868	c.812C>T	c.(811-813)gCg>gTg	p.A271V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	271					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGGCTGGACGCGGGCGCACAG	0.657000													5	138					0	0	0.217242	0	0
KDR	3791	broad.mit.edu	37	4	55946212	55946212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:55946212C>A	ENST00000263923.4	-	30	4262	c.3967G>T	c.(3967-3969)Gaa>Taa	p.E1323*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1323					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTTCTGCTTCCTCACTGGAG	0.537000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			75	125					3.99893e-49	7.75681e-49	0.870114	1	0
BICD2	23299	broad.mit.edu	37	9	95480174	95480174	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:95480174C>A	ENST00000356884.6	-	6	2230	c.2163G>T	c.(2161-2163)atG>atT	p.M721I	BICD2_ENST00000375512.3_Missense_Mutation_p.M721I	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	721	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTCGGTAACCATGGCCTTCT	0.557000													57	33					1.95512e-22	3.20092e-22	0.870114	1	0
NRK	203447	broad.mit.edu	37	X	105150488	105150488	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:105150488A>T	ENST00000428173.2	+	11	1230	c.927A>T	c.(925-927)caA>caT	p.Q309H	NRK_ENST00000243300.9_Missense_Mutation_p.Q309H			Q7Z2Y5	NRK_HUMAN	Nik related kinase	309	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACATGCTTCAACACCCATTTG	0.343000										HNSCC(51;0.14)			4	3					0	0	0.150653	0	0
FRS3	10817	broad.mit.edu	37	6	41738849	41738849	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:41738849G>A	ENST00000373018.3	-	7	1238	c.987C>T	c.(985-987)ccC>ccT	p.P329P	FRS3_ENST00000259748.2_Silent_p.P329P	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	329					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCACACAGGGGGCAGTGGGG	0.672000													25	41					0	0	0.729181	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629937	32629937	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:32629937T>C	ENST00000399084.1	-	4	646	c.468A>G	c.(466-468)ccA>ccG	p.P156P	HLA-DQB1_ENST00000399082.3_Silent_p.P66P|HLA-DQB1_ENST00000434651.2_Silent_p.P156P|HLA-DQB1_ENST00000399079.3_Silent_p.P156P|HLA-DQB1_ENST00000374943.4_Silent_p.P156P|XXbac-BPG254F23.6_ENST00000443574.1_RNA			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	156	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGATCTGGCCTGGATAGAAAT	0.562000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				58	34					0	0	0.870114	0	0
NLGN2	57555	broad.mit.edu	37	17	7312025	7312025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:7312025G>T	ENST00000302926.2	+	1	524	c.451G>T	c.(451-453)Gag>Tag	p.E151*	NLGN2_ENST00000575301.1_Nonsense_Mutation_p.E151*	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	151					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CGTGCCCACCGAGGACGGTAA	0.642000													20	18					5.35047e-06	6.01545e-06	0.654019	1	0
LBP	3929	broad.mit.edu	37	20	36982794	36982794	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:36982794G>T	ENST00000217407.2	+	4	640	c.479G>T	c.(478-480)aGc>aTc	p.S160I		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	160					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCCAGCTGCAGCAGTGACATC	0.612000													10	34					4.68919e-08	5.54511e-08	0.361761	1	0
TMPRSS5	80975	broad.mit.edu	37	11	113558998	113558998	+	Splice_Site	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:113558998T>G	ENST00000299882.5	-	13	1508		c.e13-2		TMPRSS5_ENST00000536856.1_Splice_Site|TMPRSS5_ENST00000540540.1_Splice_Site|TMPRSS5_ENST00000538955.1_Splice_Site|TMPRSS5_ENST00000544476.1_Splice_Site|TMPRSS5_ENST00000545579.1_Splice_Site|TMPRSS5_ENST00000544634.1_Splice_Site	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5						proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		gagggagtcctagaccaaaag	0.502000													5	9					0	0	0.278610	0	0
BPTF	2186	broad.mit.edu	37	17	65920669	65920669	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:65920669G>C	ENST00000321892.4	+	17	6154	c.6093G>C	c.(6091-6093)gaG>gaC	p.E2031D	BPTF_ENST00000335221.5_Missense_Mutation_p.E2031D|BPTF_ENST00000306378.6_Missense_Mutation_p.E1905D|BPTF_ENST00000424123.3_Missense_Mutation_p.E1892D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2031					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCAGAGTGGAGAAAGAAAAGG	0.418000													29	54					0	0	0.788014	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29889679	29889679	+	Silent	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:29889679A>G	ENST00000308713.5	-	10	2168	c.1641T>C	c.(1639-1641)taT>taC	p.Y547Y	SEZ6L2_ENST00000350527.3_Silent_p.Y477Y|SEZ6L2_ENST00000537485.1_Silent_p.Y503Y|SEZ6L2_ENST00000346932.5_Silent_p.Y433Y	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	547	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCCGGGCTATAGCTCTGGG	0.607000													22	88					0	0	0.624587	0	0
PRG4	10216	broad.mit.edu	37	1	186275958	186275958	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:186275958C>G	ENST00000445192.2	+	7	1152	c.1107C>G	c.(1105-1107)acC>acG	p.T369T	PRG4_ENST00000367484.3_Silent_p.T328T|PRG4_ENST00000367486.3_Silent_p.T326T|PRG4_ENST00000367483.4_Silent_p.T328T|PRG4_ENST00000367485.4_Silent_p.T276T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	369	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACACCTACCACCATCAAGT	0.617000													33	48					0	0	0.834066	0	0
DERA	51071	broad.mit.edu	37	12	16135363	16135363	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:16135363G>A	ENST00000428559.2	+	6	842	c.630G>A	c.(628-630)atG>atA	p.M210I	DERA_ENST00000526530.1_Missense_Mutation_p.M122I|DERA_ENST00000532964.1_Intron	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	210					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				TGATAGCAATGATGGCAGGTA	0.343000													24	140					0	0	0.740014	0	0
OBSCN	84033	broad.mit.edu	37	1	228491448	228491448	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:228491448G>T	ENST00000570156.2	+	52	13885	c.13811G>T	c.(13810-13812)tGt>tTt	p.C4604F	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.C1294F|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3647	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGCTGCAGTGTGAGCTGAGC	0.597000													19	62					6.94344e-10	8.6375e-10	0.539581	1	0
CCAR2	57805	broad.mit.edu	37	8	22470627	22470627	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:22470627C>T	ENST00000308511.4	+	8	931	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	KIAA1967_ENST00000389279.3_Missense_Mutation_p.L228F|KIAA1967_ENST00000520861.1_5'UTR			Q8N163	K1967_HUMAN		228					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCGGGTCCACCTCACTCCTTA	0.532000													3	28					0	0	0.115264	0	0
RTTN	25914	broad.mit.edu	37	18	67781765	67781765	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:67781765C>G	ENST00000255674.6	-	27	3885	c.3599G>C	c.(3598-3600)cGg>cCg	p.R1200P	RTTN_ENST00000437017.1_Missense_Mutation_p.R1200P|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1200							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GACAGCAGTCCGGATATCATC	0.383000													46	45					0	0	0.870114	0	0
HDAC4	9759	broad.mit.edu	37	2	239976508	239976508	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:239976508C>T	ENST00000345617.3	-	25	3801	c.3010G>A	c.(3010-3012)Gtt>Att	p.V1004I	HDAC4_ENST00000543185.1_Missense_Mutation_p.V588I	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1004	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGCTGTAAAACCTTTTCTGGG	0.488000													42	77					0	0	0.870114	0	0
CCDC54	84692	broad.mit.edu	37	3	107096665	107096665	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:107096665A>T	ENST00000261058.1	+	1	478	c.231A>T	c.(229-231)caA>caT	p.Q77H		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	77										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AAACTGCTCAAGTTGAACTTT	0.383000													58	69					0	0	0.870114	0	0
GABRG1	2565	broad.mit.edu	37	4	46099355	46099355	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:46099355G>T	ENST00000295452.4	-	2	283	c.116C>A	c.(115-117)gCa>gAa	p.A39E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	39					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTCATCATCTGCCTTATCAAC	0.323000													33	51					5.04308e-16	7.37123e-16	0.819951	1	0
OPN4	94233	broad.mit.edu	37	10	88417887	88417887	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:88417887G>A	ENST00000372071.2	+	4	649	c.422G>A	c.(421-423)aGt>aAt	p.S141N	OPN4_ENST00000241891.5_Missense_Mutation_p.S130N	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	130					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TTCTTCACCAGTAGCCTCTAT	0.562000													33	36					0	0	0.796494	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110023687	110023687	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:110023687G>T	ENST00000453089.2	+	2	1605	c.724G>T	c.(724-726)Gca>Tca	p.A242S	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A273S|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A274S			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	273							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AATAAAATTGGCAGTGGATTG	0.373000													8	19					0.000274275	0.000292451	0.307466	1	0
OR4M2	390538	broad.mit.edu	37	15	22368600	22368600	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:22368600G>T	ENST00000332663.2	+	1	123	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTACACCAAGGTGACAGAATT	0.338000													32	318					2.1956e-27	3.80402e-27	0.796494	1	0
PDX1	3651	broad.mit.edu	37	13	28498625	28498625	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:28498625A>T	ENST00000381033.4	+	2	758	c.639A>T	c.(637-639)acA>acT	p.T213T		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	213					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCGGCGGGACAGCTGTCGGGG	0.662000													16	9					0	0	0.557998	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420568	105420568	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:105420568C>T	ENST00000333244.5	-	7	1339	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	407						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGAGGGGTTCCCTCGCAAAG	0.632000													45	101					0	0	0.870114	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964974	88964974	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:88964974C>A	ENST00000333190.4	+	4	3287	c.2678C>A	c.(2677-2679)tCc>tAc	p.S893Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	893						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGTGTAACTCCGGGAATATC	0.443000										HNSCC(36;0.09)			24	68					1.1804e-14	1.6718e-14	0.667858	1	0
JAK3	3718	broad.mit.edu	37	19	17955180	17955180	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:17955180C>G	ENST00000458235.1	-	2	146	c.47G>C	c.(46-48)tGc>tCc	p.C16S	JAK3_ENST00000527670.1_Missense_Mutation_p.C16S|JAK3_ENST00000534444.1_Missense_Mutation_p.C16S|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	16	Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.C16Y(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CAAGAGGCTGCATGAACGCTG	0.632000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								3	14					0	0	0.184627	0	0
LVRN	206338	broad.mit.edu	37	5	115298331	115298331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:115298331G>T	ENST00000357872.4	+	1	141	c.17G>T	c.(16-18)aGc>aTc	p.S6I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		6					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CCCCCTTCCAGCTCAGGCTTC	0.687000													19	26					5.45024e-15	7.83223e-15	0.654019	1	0
MYO7A	4647	broad.mit.edu	37	11	76853800	76853800	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:76853800G>T	ENST00000409709.3	+	3	336	c.64G>T	c.(64-66)Gtg>Ttg	p.V22L	MYO7A_ENST00000409619.2_Missense_Mutation_p.V11L|MYO7A_ENST00000458637.2_Missense_Mutation_p.V22L|MYO7A_ENST00000409893.1_Missense_Mutation_p.V22L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	22	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGTTCGACGTGCCCATCGG	0.627000													12	22					5.35267e-07	6.17712e-07	0.557998	1	0
AGMO	392636	broad.mit.edu	37	7	15599897	15599897	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:15599897C>A	ENST00000342526.3	-	2	296		c.e2-1			NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase						ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATGGAGTTGCCTGGAAAGGAA	0.393000													16	49					1.50039e-11	1.97008e-11	0.608945	1	0
ACSM5	54988	broad.mit.edu	37	16	20422947	20422947	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:20422947G>A	ENST00000331849.4	+	2	288	c.141G>A	c.(139-141)caG>caA	p.Q47Q	ACSM5_ENST00000575584.1_Silent_p.Q47Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	47					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGGAAGGCAGCTGGTGCCTG	0.572000													18	75					0	0	0.681144	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288314	132288314	+	Missense_Mutation	SNP	C	C	A	rs147852548	byFrequency	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:132288314C>A	ENST00000467992.2	+	1	1078	c.764C>A	c.(763-765)gCg>gAg	p.A255E	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.A153E			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	153										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGGCGTCTTGCGGGCGGTAGC	0.627000													6	117					0.00307968	0.00320032	0.278610	1	0
PEX16	9409	broad.mit.edu	37	11	45935430	45935430	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:45935430C>A	ENST00000532681.1	-	9	1405	c.542G>T	c.(541-543)cGc>cTc	p.R181L	PEX16_ENST00000241041.3_Missense_Mutation_p.R276L|PEX16_ENST00000378750.5_Missense_Mutation_p.R276L			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	276					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GATGGTCCGGCGCCGCAGCTC	0.657000													16	17					1.3612e-06	1.54901e-06	0.479597	1	0
MUC16	94025	broad.mit.edu	37	19	9077008	9077008	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9077008C>T	ENST00000397910.4	-	3	10641	c.10438G>A	c.(10438-10440)Gga>Aga	p.G3480R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3481	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTTTTTCCTCCTGAGGGA	0.493000													4	14					0	0	0.184627	0	0
P2RY10	27334	broad.mit.edu	37	X	78216338	78216338	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:78216338G>C	ENST00000171757.2	+	4	601	c.321G>C	c.(319-321)ctG>ctC	p.L107L	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Silent_p.L107L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	107						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCCTTTGCCTGCTCTGCTTCT	0.478000													61	37					0	0	0.870114	0	0
LGALSL	29094	broad.mit.edu	37	2	64683515	64683515	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:64683515C>G	ENST00000238875.5	+	4	745	c.291C>G	c.(289-291)ctC>ctG	p.L97L	LGALSL_ENST00000409537.2_Intron	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	97	Galectin.					intracellular	sugar binding										GGCAGCTACTCAGAAATTCTT	0.493000													36	269					0	0	0.834066	0	0
KLHL17	339451	broad.mit.edu	37	1	897850	897850	+	Splice_Site	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:897850G>C	ENST00000338591.3	+	5	934	c.828_splice	c.e5+1	p.R276_splice		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	276	BACK.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CATGTCCCACGGGTGAGGCGC	0.677000													9	37					0	0	0.335167	0	0
OR2T11	127077	broad.mit.edu	37	1	248789864	248789864	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:248789864G>C	ENST00000330803.2	-	1	627	c.566C>G	c.(565-567)aCg>aGg	p.T189R		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATACAAGGACGTGTCTGCACA	0.473000													21	77					0	0	0.639603	0	0
ZNF382	84911	broad.mit.edu	37	19	37118089	37118089	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:37118089C>A	ENST00000435416.1	+	3	2782	c.1287C>A	c.(1285-1287)caC>caA	p.H429Q	ZNF382_ENST00000439428.1_Missense_Mutation_p.H429Q|ZNF382_ENST00000292928.2_Missense_Mutation_p.H430Q|ZNF382_ENST00000423582.1_Missense_Mutation_p.H381Q			Q96SR6	ZN382_HUMAN	zinc finger protein 382	430	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAGAACTCACACAGGAGAGA	0.463000													23	67					1.42536e-11	1.87406e-11	0.681144	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84604706	84604706	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:84604706C>A	ENST00000344803.2	+	2	247	c.200C>A	c.(199-201)gCc>gAc	p.A67D		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAGGGCAGAGCCAAGAGGAGA	0.453000													27	27					2.16457e-27	3.75358e-27	0.729181	1	0
SLC25A13	10165	broad.mit.edu	37	7	95813613	95813613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:95813613C>A	ENST00000416240.2	-	11	1346	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.E277*|SLC25A13_ENST00000265631.5_Nonsense_Mutation_p.E385*	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	385					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AAGAAGCCTTCATAGCGTAGC	0.398000													57	109					3.63617e-18	5.54608e-18	0.870114	1	0
PGAP1	80055	broad.mit.edu	37	2	197708787	197708787	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:197708787A>T	ENST00000354764.3	-	25	2464	c.2350T>A	c.(2350-2352)Tct>Act	p.S784T		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	784					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CTTCTTCTAGAGTGTTTGGGA	0.318000													5	19					0	0	0.217242	0	0
TBX15	6913	broad.mit.edu	37	1	119441677	119441677	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:119441677T>C	ENST00000369429.3	-	7	1007	c.998A>G	c.(997-999)gAc>gGc	p.D333G	TBX15_ENST00000207157.3_Missense_Mutation_p.D227G			Q96SF7	TBX15_HUMAN	T-box 15	333						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGTGGTGAAGTCTTCGAAGGT	0.517000													12	54					0	0	0.500413	0	0
GJC3	349149	broad.mit.edu	37	7	99526854	99526854	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:99526854G>A	ENST00000312891.2	-	1	389	c.390C>T	c.(388-390)agC>agT	p.S130S		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	130						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCAGCCTGAGGCTTCCAGCCC	0.612000													73	157					0	0	0.870114	0	0
ANKRD17	26057	broad.mit.edu	37	4	74013045	74013045	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:74013045C>T	ENST00000358602.4	-	9	1788	c.1672G>A	c.(1672-1674)Gcc>Acc	p.A558T	ANKRD17_ENST00000514252.1_Intron|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A445T|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A558T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	558					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTATATCGGCTCCTGCCTTA	0.428000													23	64					0	0	0.706142	0	0
LRP1B	53353	broad.mit.edu	37	2	141274513	141274513	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:141274513G>T	ENST00000389484.3	-	50	9065	c.8094C>A	c.(8092-8094)acC>acA	p.T2698T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2698	LDL-receptor class A 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGCATATCCAGGTATTCAAAA	0.333000										TSP Lung(27;0.18)			28	56					4.4194e-11	5.74903e-11	0.769981	1	0
GRHL2	79977	broad.mit.edu	37	8	102589634	102589634	+	Splice_Site	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:102589634A>C	ENST00000251808.3	+	7	1229		c.e7-1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)							cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCCCCTCTGCAGAGTGTGGTG	0.488000													6	47					0	0	0.217242	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299047	15299047	+	Splice_Site	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:15299047C>G	ENST00000263388.2	-	9	1566	c.1492_splice	c.e9+1	p.S497_splice		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	497	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTCCTCACCCGAGGGGCAGG	0.562000													4	8					0	0	0.150653	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115534717	115534717	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:115534717C>A	ENST00000354462.3	+	3	302	c.144C>A	c.(142-144)gcC>gcA	p.A48A	PLEKHS1_ENST00000369310.3_Silent_p.A298A|PLEKHS1_ENST00000361048.1_Silent_p.A304A|PLEKHS1_ENST00000369309.1_Silent_p.A118A|PLEKHS1_ENST00000369312.4_Silent_p.A216A					pleckstrin homology domain containing, family S member 1																		TTTCCCCTGCCGATGTGGAAG	0.473000													25	21					2.36697e-06	2.68111e-06	0.717897	1	0
ATP8A1	10396	broad.mit.edu	37	4	42583650	42583650	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:42583650G>T	ENST00000381668.5	-	10	1053	c.822C>A	c.(820-822)acC>acA	p.T274T	ATP8A1_ENST00000264449.10_Silent_p.T274T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	274					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCATCAGCTTGGTGTCATGTC	0.443000													46	73					1.11015e-26	1.90825e-26	0.870114	1	0
PARP10	84875	broad.mit.edu	37	8	145058991	145058991	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:145058991C>A	ENST00000313028.7	-	5	1273	c.1179G>T	c.(1177-1179)ggG>ggT	p.G393G	PARP10_ENST00000525773.1_Silent_p.G405G|PARP10_ENST00000524918.1_Silent_p.G393G	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	393						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCCAGCAACCCCTTAGAGG	0.642000													90	48					2.98938e-21	4.78252e-21	0.870114	1	0
CMPK2	129607	broad.mit.edu	37	2	7001340	7001340	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:7001340C>T	ENST00000256722.5	-	3	966	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	CMPK2_ENST00000458098.1_Missense_Mutation_p.A323T|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Missense_Mutation_p.A323T	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	323					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGAGATTTGGCAGATTCTTTA	0.398000													18	61					0	0	0.654019	0	0
C7orf26	79034	broad.mit.edu	37	7	6630053	6630053	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:6630053C>G	ENST00000344417.5	+	1	406	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	C7orf26_ENST00000359073.5_Missense_Mutation_p.L47V	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	47										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CCCCGTGGAGCTGCTGGAGGA	0.701000													5	21					0	0	0.217242	0	0
HOXC10	3226	broad.mit.edu	37	12	54379778	54379778	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:54379778G>T	ENST00000303460.4	+	1	809	c.735G>T	c.(733-735)tcG>tcT	p.S245S		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	245					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CAGACACCTCGGATAACGAAG	0.662000													12	11					0.00010058	0.000109022	0.411799	1	0
NPAP1	23742	broad.mit.edu	37	15	24921592	24921592	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:24921592G>T	ENST00000329468.2	+	1	1052	c.578G>T	c.(577-579)gGc>gTc	p.G193V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGGTCCCAGGGCACCCAGGGA	0.577000													10	13					0.00010058	0.000109022	0.411799	1	0
PSG5	5673	broad.mit.edu	37	19	43689075	43689075	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:43689075C>G	ENST00000404580.1	-	2	377	c.289G>C	c.(289-291)Gga>Cga	p.G97R	PSG5_ENST00000599812.1_Missense_Mutation_p.G97R|PSG5_ENST00000407568.1_Missense_Mutation_p.G97R|PSG5_ENST00000407356.1_Missense_Mutation_p.G97R|PSG5_ENST00000366175.3_Missense_Mutation_p.G97R|PSG5_ENST00000342951.6_Missense_Mutation_p.G97R|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	97	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTTTCTCGTCCAGTGTATGCA	0.438000													61	79					0	0	0.870114	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020133	55020133	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:55020133G>A	ENST00000324000.3	+	1	2090	c.56G>A	c.(55-57)aGc>aAc	p.S19N		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	19					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTCATGCTCAGCGTCGCCCTG	0.597000													29	29					0	0	0.796494	0	0
HYDIN	54768	broad.mit.edu	37	16	70935009	70935009	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:70935009T>C	ENST00000393567.2	-	53	9096	c.8946A>G	c.(8944-8946)gtA>gtG	p.V2982V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2982										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCATCAGGGATACAGTGAAAT	0.572000													26	132					0	0	0.706142	0	0
FOXF2	2295	broad.mit.edu	37	6	1390746	1390746	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:1390746G>A	ENST00000259806.1	+	1	678	c.564G>A	c.(562-564)tcG>tcA	p.S188S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	188					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		AGGAGGGCTCGTTCCGCCGCC	0.692000													19	72					0	0	0.608945	0	0
NOTCH4	4855	broad.mit.edu	37	6	32172111	32172111	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:32172111G>T	ENST00000375023.3	-	19	3059	c.2921C>A	c.(2920-2922)tCc>tAc	p.S974Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	974	EGF-like 25.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGGGTTGGGACTGACAAGC	0.557000													15	76					8.00594e-06	8.96501e-06	0.557998	1	0
OR5B21	219968	broad.mit.edu	37	11	58275102	58275102	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:58275102T>A	ENST00000360374.2	-	1	476	c.477A>T	c.(475-477)gcA>gcT	p.A159A		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAAGGTGCCTGCTGCATGGA	0.507000													44	52					0	0	0.870114	0	0
ABCA9	10350	broad.mit.edu	37	17	67023539	67023539	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:67023539C>A	ENST00000340001.4	-	14	2054	c.1843G>T	c.(1843-1845)Gct>Tct	p.A615S	ABCA9_ENST00000453985.2_Missense_Mutation_p.A615S|ABCA9_ENST00000370732.2_Missense_Mutation_p.A615S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	615	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAGTTTTGAGCAAGGATGTCT	0.318000													11	19					0.000978159	0.00103233	0.387290	1	0
KIAA0947	23379	broad.mit.edu	37	5	5461306	5461306	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:5461306A>C	ENST00000296564.7	+	13	2081	c.1859A>C	c.(1858-1860)gAt>gCt	p.D620A		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	620										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATGGAATGGATGTAGCAGGG	0.418000													45	54					0	0	0.870114	0	0
CPVL	54504	broad.mit.edu	37	7	29035436	29035436	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:29035436C>A	ENST00000409850.1	-	17	2029	c.1383G>T	c.(1381-1383)atG>atT	p.M461I	CPVL_ENST00000265394.5_Missense_Mutation_p.M461I|CPVL_ENST00000396276.3_Missense_Mutation_p.M461I			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	461					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATCGATTAATCATGTCAAAAG	0.348000													4	70					0.00116845	0.00122524	0.217242	1	0
RAI1	10743	broad.mit.edu	37	17	17698231	17698231	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:17698231G>T	ENST00000353383.1	+	3	2438	c.1969G>T	c.(1969-1971)Gcg>Tcg	p.A657S	RAI1_ENST00000261641.6_Missense_Mutation_p.A657S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	657						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGCCAAGAGTGCGTGGCCCCG	0.652000													21	21					3.01185e-09	3.68365e-09	0.667858	1	0
ENAM	10117	broad.mit.edu	37	4	71508841	71508841	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:71508841T>A	ENST00000396073.3	+	9	1979	c.1698T>A	c.(1696-1698)acT>acA	p.T566T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	566					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAAGAAATACTTGGGACCACC	0.438000													101	148					0	0	0.870114	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48598508	48598508	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:48598508C>T	ENST00000323776.5	+	8	1245	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	MYCBPAP_ENST00000436259.2_Silent_p.T324T	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	324					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACCGCTACACCTGGGATCGGA	0.572000													11	24					0	0	0.479597	0	0
OR8B2	26595	broad.mit.edu	37	11	124252556	124252556	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:124252556G>C	ENST00000375013.2	-	1	702	c.684C>G	c.(682-684)atC>atG	p.I228M		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAGTGGATTTGATATGAAGAA	0.393000													26	72					0	0	0.859065	0	0
OR2S2	56656	broad.mit.edu	37	9	35957273	35957273	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:35957273C>A	ENST00000341959.2	-	1	878	c.823G>T	c.(823-825)Gat>Tat	p.D275Y		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TCTGAAAGATCCTCTTTGTCT	0.512000													6	95					5.9392e-07	6.82591e-07	0.217242	1	0
NEBL	10529	broad.mit.edu	37	10	21101712	21101712	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:21101712G>A	ENST00000377122.4	-	24	2900	c.2504C>T	c.(2503-2505)cCt>cTt	p.P835L	NEBL_ENST00000377159.4_Missense_Mutation_p.P138L|NEBL_ENST00000417816.2_Missense_Mutation_p.P172L	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	835					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AATGATTCCAGGTCTCCTGTC	0.522000													15	47					0	0	0.575678	0	0
ADORA2A	135	broad.mit.edu	37	22	24829648	24829648	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:24829648C>G	ENST00000337539.7	+	2	735	c.276C>G	c.(274-276)atC>atG	p.I92M	KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	92					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	AGAGCTCCATCTTCAGTCTCC	0.617000													15	65					0	0	0.592651	0	0
ACTN2	88	broad.mit.edu	37	1	236914818	236914818	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:236914818G>A	ENST00000366578.4	+	15	1871	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	ACTN2_ENST00000542672.1_Missense_Mutation_p.D569N|ACTN2_ENST00000546208.1_Missense_Mutation_p.D63N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	569					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCCGAGGCGGACGGAGAGCG	0.527000													17	79					0	0	0.608945	0	0
OR6C1	390321	broad.mit.edu	37	12	55714963	55714963	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:55714963G>T	ENST00000379668.2	+	1	618	c.580G>T	c.(580-582)Gag>Tag	p.E194*		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AAAATTCTTAGAGGTGATGGG	0.338000													38	31					2.47872e-24	4.16587e-24	0.853193	1	0
CSMD2	114784	broad.mit.edu	37	1	34112422	34112422	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:34112422G>T	ENST00000373381.4	-	29	4776	c.4600C>A	c.(4600-4602)Cct>Act	p.P1534T	CSMD2_ENST00000373380.1_Missense_Mutation_p.P407T|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1494	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCATAGCCAGGCTCCAGGTTA	0.542000													3	7					0.00909568	0.00932367	0.150653	1	0
ARMC12	221481	broad.mit.edu	37	6	35705826	35705826	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:35705826G>A	ENST00000373866.3	+	2	208	c.186G>A	c.(184-186)cgG>cgA	p.R62R	ARMC12_ENST00000288065.2_Silent_p.R89R|ARMC12_ENST00000373869.3_Silent_p.R62R			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	62							binding										AGCGAGAGCGGCACGGGCGGG	0.582000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	155					0	0	0.750413	0	0
PDLIM3	27295	broad.mit.edu	37	4	186423463	186423463	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:186423463C>G	ENST00000284770.5	-	8	1153	c.1080G>C	c.(1078-1080)ctG>ctC	p.L360L	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.L312L	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	360						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CTTTGGGATACAGAGTGACCG	0.557000													35	52					0	0	0.864702	0	0
ZXDC	79364	broad.mit.edu	37	3	126180822	126180822	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:126180822C>G	ENST00000389709.3	-	6	1736	c.1683G>C	c.(1681-1683)ggG>ggC	p.G561G	ZXDC_ENST00000336332.5_Silent_p.G561G	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	561					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GTTCCATCGGCCCTAGGGAGC	0.592000													22	49					0	0	0.624587	0	0
CADPS2	93664	broad.mit.edu	37	7	122091530	122091530	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:122091530C>A	ENST00000334010.7	-	14	2611		c.e14-1		CADPS2_ENST00000412584.2_Splice_Site|CADPS2_ENST00000449022.2_Splice_Site|CADPS2_ENST00000313070.7_Splice_Site	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCCATCAGGCCTGAAAAAAAA	0.294000													17	31					7.41877e-09	8.92425e-09	0.608945	1	0
KIF5A	3798	broad.mit.edu	37	12	57960917	57960917	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:57960917T>A	ENST00000455537.2	+	7	784	c.510T>A	c.(508-510)acT>acA	p.T170T	KIF5A_ENST00000286452.5_Silent_p.T81T	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	170	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGGGTTGTACTGAACGCTTTG	0.388000													88	68					0	0	0.870114	0	0
CXorf23	256643	broad.mit.edu	37	X	19971151	19971151	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:19971151C>A	ENST00000379687.3	-	6	1617	c.1584G>T	c.(1582-1584)ttG>ttT	p.L528F	CXorf23_ENST00000379682.4_Missense_Mutation_p.L528F|CXorf23_ENST00000356980.3_Missense_Mutation_p.L528F	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	528						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GAAGCTCGGCCAAAGACATAT	0.313000													21	30					3.83957e-06	4.32668e-06	0.639603	1	0
TRPM2	7226	broad.mit.edu	37	21	45833830	45833830	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:45833830A>G	ENST00000397928.1	+	20	3464	c.3019A>G	c.(3019-3021)Aag>Gag	p.K1007E	TRPM2_ENST00000300481.9_Missense_Mutation_p.K987E|TRPM2_ENST00000300482.5_Missense_Mutation_p.K1007E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.K1007E	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1007						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTACAAGCCTAAGTGCCCCGA	0.612000													127	197					0	0	0.870114	0	0
SOHLH1	402381	broad.mit.edu	37	9	138587040	138587040	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:138587040C>A	ENST00000298466.5	-	6	791	c.731G>T	c.(730-732)tGg>tTg	p.W244L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.W244L	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	244					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)		GAACGGAGGCCAGGACAGGGG	0.682000													3	2					0.115264	0.116331	0.115264	1	0
NETO2	81831	broad.mit.edu	37	16	47117283	47117283	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:47117283C>A	ENST00000562435.1	-	9	1811	c.1427G>T	c.(1426-1428)aGc>aTc	p.S476I	NETO2_ENST00000303155.5_Missense_Mutation_p.S469I	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	476						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTTGAAGGTGCTATTAAATGT	0.458000										HNSCC(25;0.065)			54	117					1.4709e-25	2.5064e-25	0.870114	1	0
LOX	4015	broad.mit.edu	37	5	121412656	121412656	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:121412656C>A	ENST00000231004.4	-	2	971	c.672G>T	c.(670-672)gcG>gcT	p.A224A	LOX_ENST00000513319.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	224	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CGTACGTGGACGCCTGGATGT	0.627000											OREG0016741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	34					4.01344e-20	6.3027e-20	0.870114	1	0
SLC7A13	157724	broad.mit.edu	37	8	87235201	87235201	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:87235201C>A	ENST00000297524.3	-	2	920	c.817_splice	c.e2+1	p.D273_splice	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Splice_Site_p.D264_splice	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	273						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GCATACAAACCTGAAGAGAGA	0.373000													24	116					2.79863e-10	3.54433e-10	0.681144	1	0
BFSP2	8419	broad.mit.edu	37	3	133169150	133169150	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:133169150G>A	ENST00000302334.2	+	4	822	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	BFSP2_ENST00000511434.1_3'UTR|RP11-91K8.1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	245	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTTTCAGGATGTGAAGCTGCT	0.453000													25	73					0	0	0.760397	0	0
LILRB1	10859	broad.mit.edu	37	19	55143424	55143424	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:55143424C>G	ENST00000396331.1	+	6	754	c.397C>G	c.(397-399)Ccc>Gcc	p.P133A	LILRB1_ENST00000396317.1_Missense_Mutation_p.P133A|LILRB1_ENST00000448689.1_Missense_Mutation_p.P133A|LILRB1_ENST00000396315.1_Missense_Mutation_p.P133A|LILRB1_ENST00000418536.2_Missense_Mutation_p.P133A|LILRB1_ENST00000396321.2_Missense_Mutation_p.P133A|LILRB1_ENST00000427581.2_Missense_Mutation_p.P169A|LILRB1_ENST00000324602.7_Missense_Mutation_p.P133A|LILRB1_ENST00000396332.4_Missense_Mutation_p.P133A|LILRB1_ENST00000434867.2_Missense_Mutation_p.P133A|LILRB1_ENST00000396327.3_Missense_Mutation_p.P133A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	133	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCAGCCCAGCCCCGTGGTGAA	0.557000										HNSCC(37;0.09)			17	84					0	0	0.539581	0	0
OR4N4	283694	broad.mit.edu	37	15	22383072	22383072	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:22383072C>T	ENST00000328795.4	+	1	691	c.600C>T	c.(598-600)gtC>gtT	p.V200V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCTAATGGTCTTCAACAGTG	0.517000													36	96					0	0	0.796494	0	0
HTRA4	203100	broad.mit.edu	37	8	38840043	38840043	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:38840043C>A	ENST00000302495.4	+	7	1241	c.1141C>A	c.(1141-1143)Ctg>Atg	p.L381M		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	381					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TAAGAAATATCTGGGTCTGCA	0.418000													37	41					2.52991e-16	3.72838e-16	0.870114	1	0
GRID1	2894	broad.mit.edu	37	10	87484118	87484118	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:87484118C>T	ENST00000327946.7	-	11	1934	c.1849G>A	c.(1849-1851)Gta>Ata	p.V617I	GRID1_ENST00000536331.1_Missense_Mutation_p.V188I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	617						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTTGCTGTACGAAGGCTCCA	0.517000										Multiple Myeloma(13;0.14)			13	15					0	0	0.520397	0	0
LSM7	51690	broad.mit.edu	37	19	2324190	2324190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:2324190C>A	ENST00000252622.9	-	3	152	c.103G>T	c.(103-105)Gga>Tga	p.G35*	LSM7_ENST00000589532.1_5'UTR	NM_016199.2	NP_057283.1	Q9UK45	LSM7_HUMAN	LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)	35					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			kidney(1)|urinary_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCAGGATTCCACTGGCTTGG	0.627000													4	5					8.12818e-05	8.83968e-05	0.248553	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254149	39254149	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:39254149G>T	ENST00000333822.4	-	1	244	c.188C>A	c.(187-189)aCc>aAc	p.T63N		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	63	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCGACAGCAGGTGGGCTGGCA	0.652000													7	137					4.35082e-09	5.29161e-09	0.592651	1	0
EDA2R	60401	broad.mit.edu	37	X	65824998	65824998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:65824998C>T	ENST00000374719.3	-	3	214	c.158G>A	c.(157-159)tGg>tAg	p.W53*	EDA2R_ENST00000396050.1_Nonsense_Mutation_p.W53*|EDA2R_ENST00000253392.5_Nonsense_Mutation_p.W53*|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000456230.2_Nonsense_Mutation_p.W53*|EDA2R_ENST00000450752.1_Nonsense_Mutation_p.W53*	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	53					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GTGGTGGCCCCAGCTGCTTTT	0.522000													10	12					0	0	0.361761	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944045	96944045	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:96944045T>A	ENST00000323853.5	-	39	5617	c.5540A>T	c.(5539-5541)gAg>gTg	p.E1847V	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1847	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGAGATGATCTCGATAAGCCC	0.502000													27	96					0	0	0.750413	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187709484	187709484	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:187709484C>A	ENST00000295131.2	-	3	282	c.242_splice	c.e3-1	p.W81_splice		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	81					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCAACAAGACCCTAACATTCA	0.254000													8	61					6.40141e-05	6.98497e-05	0.387290	1	0
TACR1	6869	broad.mit.edu	37	2	75280801	75280801	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:75280801T>A	ENST00000305249.4	-	3	1431	c.666A>T	c.(664-666)acA>acT	p.T222T	TACR1_ENST00000409848.3_Silent_p.T222T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	222					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGGCCCATAGTGTGATTCCCA	0.562000											OREG0014726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	62					0	0	0.870114	0	0
PLIN4	729359	broad.mit.edu	37	19	4513513	4513513	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:4513513G>T	ENST00000301286.3	-	3	416	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	139	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCCTTGGACGGCCCCCTTAG	0.657000													9	30					0.000274275	0.000292451	0.307466	1	0
ACADL	33	broad.mit.edu	37	2	211053748	211053748	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:211053748G>C	ENST00000233710.3	-	11	1457	c.1230C>G	c.(1228-1230)atC>atG	p.I410M	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	410					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TACCACCATAGATTGGCTGAA	0.358000													6	105					0	0	0.278610	0	0
CORO1B	57175	broad.mit.edu	37	11	67208691	67208691	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:67208691C>A	ENST00000393893.1	-	7	764	c.661G>T	c.(661-663)Gcc>Tcc	p.A221S	CORO1B_ENST00000341356.5_Missense_Mutation_p.A221S|CORO1B_ENST00000453768.2_Missense_Mutation_p.A221S	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	221					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATGGGCCGGGCCCCCTCATGA	0.667000													63	141					2.13431e-38	4.00157e-38	0.870114	1	0
ELAVL3	1995	broad.mit.edu	37	19	11565634	11565634	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:11565634C>T	ENST00000359227.3	-	7	1235	c.811G>A	c.(811-813)Gcg>Acg	p.A271T	ELAVL3_ENST00000438662.2_Missense_Mutation_p.A264T	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	271					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCCACGCCCGCCAGGCCGCTC	0.687000													36	70					0	0	0.804634	0	0
GABRG1	2565	broad.mit.edu	37	4	46043188	46043188	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:46043188C>A	ENST00000295452.4	-	9	1382	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	405					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCTCCAAACACTGATACCCAT	0.433000													31	61					5.8336e-16	8.50138e-16	0.779181	1	0
FDX1	2230	broad.mit.edu	37	11	110327749	110327749	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:110327749C>G	ENST00000260270.2	+	3	656	c.418C>G	c.(418-420)Ctg>Gtg	p.L140V		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	140	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	CATGCTCGATCTGGCATATGG	0.388000													63	148					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179575888	179575888	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179575888T>A	ENST00000589042.1	-	97	28299	c.28075A>T	c.(28075-28077)Aat>Tat	p.N9359Y	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N8115Y|TTN_ENST00000591111.1_Missense_Mutation_p.N9042Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9042	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAAAAATATTGAGTGTGGCT	0.453000													53	100					0	0	0.870114	0	0
PPP1R10	5514	broad.mit.edu	37	6	30570323	30570323	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:30570323T>A	ENST00000376511.2	-	19	2655	c.2103A>T	c.(2101-2103)ggA>ggT	p.G701G		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	701	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TATGGTATGGTCCAGGACCTG	0.687000													7	6					0	0	0.248553	0	0
DUSP27	92235	broad.mit.edu	37	1	167097391	167097391	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:167097391C>T	ENST00000361200.2	+	6	3189	c.3023C>T	c.(3022-3024)tCa>tTa	p.S1008L	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.S1008L|DUSP27_ENST00000271385.5_Missense_Mutation_p.S1008L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1008	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCACGGTTCTCATCTTCCTCC	0.532000													9	82					0	0	0.361761	0	0
PFAS	5198	broad.mit.edu	37	17	8159725	8159725	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:8159725G>T	ENST00000314666.6	+	7	954	c.821_splice	c.e7+1	p.S274_splice	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	274					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATAACAGCAGGTGCTGTGCC	0.577000													57	44					9.07738e-34	1.65603e-33	0.870114	1	0
UTP20	27340	broad.mit.edu	37	12	101682746	101682746	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:101682746G>T	ENST00000261637.4	+	6	698	c.524G>T	c.(523-525)aGc>aTc	p.S175I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	175					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGCATGTACAGCACACTCCTG	0.294000													20	20					3.28513e-13	4.46896e-13	0.667858	1	0
RSPO3	84870	broad.mit.edu	37	6	127440410	127440410	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:127440410T>A	ENST00000356698.4	+	1	662	c.73T>A	c.(73-75)Tcc>Acc	p.S25T	RSPO3_ENST00000368317.3_Missense_Mutation_p.S25T	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	25						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CCAAAACGCCTCCCGGGGAAG	0.522000													48	49					0	0	0.870114	0	0
PPP1R21	129285	broad.mit.edu	37	2	48713850	48713850	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:48713850G>T	ENST00000294952.8	+	14	1556	c.1399G>T	c.(1399-1401)Gac>Tac	p.D467Y	PPP1R21_ENST00000449090.2_Missense_Mutation_p.D467Y|PPP1R21_ENST00000281394.4_Missense_Mutation_p.D467Y	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	467										endometrium(2)|kidney(4)|lung(9)	15						AACAACTAATGACTGTATCCT	0.338000													19	78					3.7963e-18	5.77238e-18	0.654019	1	0
MEX3B	84206	broad.mit.edu	37	15	82336368	82336368	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:82336368G>T	ENST00000329713.4	-	2	1278	c.843C>A	c.(841-843)ttC>ttA	p.F281L	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	281					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GGTAGCTAGAGAAAGGCTTGC	0.672000													9	30					4.68919e-08	5.54511e-08	0.361761	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51649147	51649147	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:51649147G>T	ENST00000317643.6	+	4	865	c.796G>T	c.(796-798)Gtc>Ttc	p.V266F	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.V173F|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	266	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATCTCTTTCAGTCCTAGAGGG	0.527000													52	138					5.89852e-23	9.74645e-23	0.870114	1	0
PARD3	56288	broad.mit.edu	37	10	34558795	34558795	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:34558795C>A	ENST00000374789.3	-	22	3543	c.3218G>T	c.(3217-3219)cGa>cTa	p.R1073L	PARD3_ENST00000374788.3_Missense_Mutation_p.R1070L|PARD3_ENST00000374794.3_Missense_Mutation_p.R961L|PARD3_ENST00000374790.3_Missense_Mutation_p.R1013L|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000545693.1_Missense_Mutation_p.R1057L|PARD3_ENST00000346874.4_Missense_Mutation_p.R1036L|PARD3_ENST00000350537.4_Missense_Mutation_p.R1027L|PARD3_ENST00000545260.1_Missense_Mutation_p.R983L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1073					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCGAGCTTGTCGTTCCCTAAA	0.373000													6	19					0.0381472	0.0386792	0.278610	1	0
FOXI1	2299	broad.mit.edu	37	5	169533258	169533258	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:169533258G>A	ENST00000449804.2	+	1	342	c.297G>A	c.(295-297)gtG>gtA	p.V99V	FOXI1_ENST00000306268.6_Silent_p.V99V	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	99					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCCAGCGTGTCGGGGCTTG	0.701000									Pendred syndrome				6	2					0	0	0.217242	0	0
ZNF607	84775	broad.mit.edu	37	19	38189613	38189613	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:38189613T>A	ENST00000355202.4	-	5	2014	c.1419A>T	c.(1417-1419)ggA>ggT	p.G473G	ZNF607_ENST00000395835.3_Silent_p.G472G|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGGGTTTCTCTCCTGTATGAA	0.378000													21	73					0	0	0.608945	0	0
MKRN3	7681	broad.mit.edu	37	15	23812141	23812141	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:23812141G>A	ENST00000314520.3	+	1	1688	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	404						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTATTTTGCGGAAGGCAGGG	0.522000													27	84					0	0	0.769981	0	0
LPHN3	23284	broad.mit.edu	37	4	62598793	62598793	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:62598793G>T	ENST00000512091.1	+	7	1463	c.716G>T	c.(715-717)aGt>aTt	p.S239I	LPHN3_ENST00000511324.1_Missense_Mutation_p.S307I|LPHN3_ENST00000508946.1_Missense_Mutation_p.S239I|LPHN3_ENST00000545650.1_Missense_Mutation_p.S239I|LPHN3_ENST00000508693.1_Missense_Mutation_p.S307I|LPHN3_ENST00000507625.1_Missense_Mutation_p.S307I|LPHN3_ENST00000514996.1_Missense_Mutation_p.S239I|LPHN3_ENST00000507164.1_Missense_Mutation_p.S307I|LPHN3_ENST00000504896.1_Missense_Mutation_p.S239I|LPHN3_ENST00000514157.1_Missense_Mutation_p.S239I|LPHN3_ENST00000506746.1_Missense_Mutation_p.S307I|LPHN3_ENST00000506700.1_Missense_Mutation_p.S239I|LPHN3_ENST00000514591.1_Missense_Mutation_p.S239I|LPHN3_ENST00000509896.1_Missense_Mutation_p.S307I|LPHN3_ENST00000506720.1_Missense_Mutation_p.S307I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	239	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGGATAAAGAGTGGAGAGGCT	0.453000													4	33					5.9392e-07	6.82591e-07	0.217242	1	0
NUAK2	81788	broad.mit.edu	37	1	205273623	205273623	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:205273623C>A	ENST00000367157.3	-	7	968	c.842G>T	c.(841-843)cGg>cTg	p.R281L		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	281	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAACAGCCACCGGATCAGGCC	0.627000													3	7					0.150653	0.151814	0.150653	1	0
PREB	10113	broad.mit.edu	37	2	27355151	27355151	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:27355151C>A	ENST00000260643.2	-	6	1126	c.873G>T	c.(871-873)ttG>ttT	p.L291F	PREB_ENST00000406567.3_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	291					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGAAGGGGCAAGAAGTTGG	0.617000													35	142					1.69901e-12	2.26882e-12	0.812448	1	0
ROBO4	54538	broad.mit.edu	37	11	124755027	124755027	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:124755027G>T	ENST00000306534.3	-	17	3396	c.2911C>A	c.(2911-2913)Cgg>Agg	p.R971R	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.R826R	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	971					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R971W(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTTCCCAGCCGCTGGGTGTGG	0.622000													46	85					1.30409e-13	1.79267e-13	0.870114	1	0
HNRNPAB	3182	broad.mit.edu	37	5	177632992	177632992	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:177632992A>G	ENST00000358344.3	+	3	616	c.359A>G	c.(358-360)gAt>gGt	p.D120G	HNRNPAB_ENST00000506259.1_Missense_Mutation_p.D120G|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.D120G|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.D120G|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.D120G|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.D120G|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.D120G	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	119	RRM 1.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						CTGTTCAAAGATGCAGCCAGT	0.418000													84	51					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216256866	216256866	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:216256866A>C	ENST00000366943.2	-	26	5616	c.5230T>G	c.(5230-5232)Ttc>Gtc	p.F1744V	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.F1744V|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1744	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAGTTCTGAACTTAAAGGAA	0.294000										HNSCC(13;0.011)			27	86					0	0	0.740014	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687891	68687891	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:68687891C>A	ENST00000361320.4	+	2	1795	c.1217C>A	c.(1216-1218)cCa>cAa	p.P406Q	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	406						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GAGCCCGGCCCAGAGACCGAT	0.607000													20	32					6.44725e-10	8.05086e-10	0.624587	1	0
HGF	3082	broad.mit.edu	37	7	81372684	81372684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:81372684C>A	ENST00000222390.5	-	7	1076	c.850G>T	c.(850-852)Gca>Tca	p.A284S	HGF_ENST00000457544.2_Missense_Mutation_p.A279S|HGF_ENST00000453411.1_Missense_Mutation_p.A279S|HGF_ENST00000444829.2_Missense_Mutation_p.A284S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	284	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTTTTAATTGCACAGTACTCC	0.473000													55	95					3.56336e-21	5.69615e-21	0.870114	1	0
LRRC6	23639	broad.mit.edu	37	8	133595942	133595942	+	Splice_Site	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:133595942T>C	ENST00000519595.1	-	11	1323	c.1226_splice	c.e11+1	p.R409_splice	LRRC6_ENST00000518642.1_Splice_Site_p.S406_splice|LRRC6_ENST00000250173.1_Splice_Site_p.R409_splice			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	409						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTGGTACCTTGTATTTGTT	0.373000													4	111					0	0	0.184627	0	0
CHAT	1103	broad.mit.edu	37	10	50824639	50824639	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:50824639T>A	ENST00000395562.2	+	3	601	c.132T>A	c.(130-132)agT>agA	p.S44R	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Missense_Mutation_p.S8R|CHAT_ENST00000351556.3_Missense_Mutation_p.S8R|CHAT_ENST00000339797.1_Missense_Mutation_p.S8R|CHAT_ENST00000337653.2_Missense_Mutation_p.S126R|CHAT_ENST00000455728.2_Missense_Mutation_p.S8R	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	126					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTCCCAGCAGTGAGGAGTCTG	0.582000													11	8					0	0	0.435327	0	0
BTBD9	114781	broad.mit.edu	37	6	38312814	38312814	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:38312814C>G	ENST00000481247.1	-	7	1361	c.1210G>C	c.(1210-1212)Gct>Cct	p.A404P	BTBD9_ENST00000419706.2_Missense_Mutation_p.A374P|BTBD9_ENST00000314100.6_Missense_Mutation_p.A336P|BTBD9_ENST00000408958.1_Missense_Mutation_p.A336P|BTBD9_ENST00000403056.1_Missense_Mutation_p.A404P	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	404					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CATTCAAAAGCCACAATGTGA	0.333000													44	91					0	0	0.870114	0	0
CXXC11	285093	broad.mit.edu	37	2	242814932	242814932	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:242814932A>T	ENST00000343216.3	+	2	1253	c.1225A>T	c.(1225-1227)Aat>Tat	p.N409Y		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	409						integral to membrane											GCCAGAGACCAATGCTGGTGG	0.612000													3	37					0	0	0.184627	0	0
ZNF680	340252	broad.mit.edu	37	7	64004715	64004715	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:64004715C>T	ENST00000309683.6	-	2	277	c.126G>A	c.(124-126)atG>atA	p.M42I	ZNF680_ENST00000447137.2_Missense_Mutation_p.M42I|ZNF680_ENST00000476563.1_Intron	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AGTTCTCAAACATCACTTTCC	0.413000													61	192					0	0	0.870114	0	0
ZNF257	113835	broad.mit.edu	37	19	22271502	22271502	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:22271502A>G	ENST00000594947.1	+	4	1094	c.950A>G	c.(949-951)aAa>aGa	p.K317R		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAACCCTACAAATGTGAAGAG	0.428000													17	40					0	0	0.654019	0	0
ZNF536	9745	broad.mit.edu	37	19	30936020	30936020	+	Silent	SNP	C	C	T	rs143692098		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:30936020C>T	ENST00000355537.3	+	2	1698	c.1551C>T	c.(1549-1551)ccC>ccT	p.P517P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGATGGACCCCGTGAACAGCT	0.612000													16	37					0	0	0.557998	0	0
COL4A5	1287	broad.mit.edu	37	X	107865998	107865998	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:107865998C>A	ENST00000328300.6	+	33	3104	c.2860C>A	c.(2860-2862)Cca>Aca	p.P954T	COL4A5_ENST00000361603.2_Missense_Mutation_p.P954T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	954	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCTCCTGGACCAATGGATCC	0.473000									Alport syndrome with Diffuse Leiomyomatosis				23	18					6.32553e-13	8.54578e-13	0.681144	1	0
SVEP1	79987	broad.mit.edu	37	9	113213637	113213637	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:113213637C>G	ENST00000401783.2	-	23	4169	c.3833G>C	c.(3832-3834)tGt>tCt	p.C1278S	SVEP1_ENST00000374469.1_Missense_Mutation_p.C1255S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.C1278S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1278	EGF-like 3; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTTATTTAAACAAGGACTGGA	0.398000													13	24					0	0	0.539581	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817412	26817412	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:26817412G>T	ENST00000444914.3	+	3	739	c.319G>T	c.(319-321)Ggg>Tgg	p.G107W	SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCATAACCTCGGGGGCACCGT	0.547000													75	105					6.8793e-45	1.32004e-44	0.870114	1	0
TBX20	57057	broad.mit.edu	37	7	35289618	35289618	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:35289618G>T	ENST00000408931.3	-	2	851	c.325C>A	c.(325-327)Ctt>Att	p.L109I		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	109						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTGTCCCAAAGCTCCTTGGTC	0.582000													16	94					5.03518e-11	6.54141e-11	0.557998	1	0
WDR77	79084	broad.mit.edu	37	1	111985355	111985355	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:111985355C>G	ENST00000235090.5	-	8	926	c.720G>C	c.(718-720)gtG>gtC	p.V240V	WDR77_ENST00000411751.2_Silent_p.V176V|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	240					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCTTGGTGTCCACAAGGGAGA	0.478000													8	27					0	0	0.361761	0	0
SNRPA1	6627	broad.mit.edu	37	15	101825949	101825949	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:101825949C>A	ENST00000254193.6	-	7	669	c.597G>T	c.(595-597)ggG>ggT	p.G199G		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	199						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTCTACATCCCCTGGAGATG	0.428000													30	20					3.21399e-22	5.23574e-22	0.804634	1	0
COL11A1	1301	broad.mit.edu	37	1	103573699	103573699	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:103573699C>A	ENST00000358392.2	-	1	353	c.36G>T	c.(34-36)cgG>cgT	p.R12R	COL11A1_ENST00000370096.3_Silent_p.R12R|COL11A1_ENST00000512756.1_Silent_p.R12R|COL11A1_ENST00000353414.4_Silent_p.R12R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	12					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			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)		CCCAGAGCCACCGTTTCGTTT	0.527000													9	36					1.61879e-10	2.06612e-10	0.411799	1	0
LRRTM2	26045	broad.mit.edu	37	5	138208768	138208768	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:138208768G>A	ENST00000274711.6	-	2	1860	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Silent_p.P55P|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000518825.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	494						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGATGATGAAGGGTCCTTCAT	0.423000													130	111					0	0	0.870114	0	0
MXRA5	25878	broad.mit.edu	37	X	3229376	3229376	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:3229376G>T	ENST00000217939.6	-	7	7022	c.6868C>A	c.(6868-6870)Cag>Aag	p.Q2290K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2290	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCATCCGACTGCATGAAGGAG	0.572000													10	28					3.07112e-06	3.4687e-06	0.387290	1	0
LY75	4065	broad.mit.edu	37	2	160711433	160711433	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:160711433G>A	ENST00000263636.4	-	17	2428	c.2401C>T	c.(2401-2403)Cca>Tca	p.P801S	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P801S|LY75_ENST00000553424.1_Missense_Mutation_p.P801S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P801S|LY75_ENST00000554112.1_Missense_Mutation_p.P801S	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TACCAGTCTGGTGTTTTTGGA	0.388000													13	27					0	0	0.500413	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356227	37356227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:37356227G>T	ENST00000217420.1	+	2	786	c.523G>T	c.(523-525)Gaa>Taa	p.E175*		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	175					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGAGGAGAATGAAGACGGCGA	0.647000													17	40					3.99206e-14	5.57751e-14	0.557998	1	0
ZNF395	55893	broad.mit.edu	37	8	28209072	28209072	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:28209072C>G	ENST00000344423.5	-	7	1304	c.1173G>C	c.(1171-1173)ggG>ggC	p.G391G	ZNF395_ENST00000523095.1_Silent_p.G391G|ZNF395_ENST00000523202.1_Silent_p.G391G	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	391					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G391G(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCTGAGAGCCCCTGAGGGCA	0.627000													37	63					0	0	0.840704	0	0
OR5M10	390167	broad.mit.edu	37	11	56344787	56344787	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:56344787G>C	ENST00000526812.2	-	1	476	c.411C>G	c.(409-411)tcC>tcG	p.S137S		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AAATGTTCTTGGACATCCTGG	0.458000													49	119					0	0	0.870114	0	0
ARHGAP4	393	broad.mit.edu	37	X	153178971	153178971	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:153178971C>G	ENST00000370028.3	-	10	1395	c.1338G>C	c.(1336-1338)caG>caC	p.Q446H	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.Q383H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.Q385H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.Q228H|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.Q406H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	406					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCTGGTCTGGAAGGAAT	0.647000													64	31					0	0	0.870114	0	0
TLL1	7092	broad.mit.edu	37	4	166929185	166929185	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:166929185G>T	ENST00000061240.2	+	7	1549	c.902G>T	c.(901-903)aGg>aTg	p.R301M	TLL1_ENST00000507499.1_Missense_Mutation_p.R301M|TLL1_ENST00000513213.1_Missense_Mutation_p.R301M	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	301	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CACTATGCCAGGAACACCTTC	0.413000													25	47					6.07407e-21	9.67024e-21	0.717897	1	0
RXFP1	59350	broad.mit.edu	37	4	159568169	159568169	+	Silent	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:159568169A>C	ENST00000307765.5	+	16	1823	c.1572A>C	c.(1570-1572)ggA>ggC	p.G524G	RXFP1_ENST00000470033.1_Silent_p.G491G|RXFP1_ENST00000460056.2_Silent_p.G443G|RXFP1_ENST00000448688.2_Silent_p.G419G|RXFP1_ENST00000343542.5_Silent_p.G476G	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	524						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGAGACCTGGAAAATGCAGAA	0.343000													8	23					0	0	0.278610	0	0
PTPRH	5794	broad.mit.edu	37	19	55713547	55713547	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:55713547G>T	ENST00000376350.3	-	6	1052	c.1030C>A	c.(1030-1032)Cga>Aga	p.R344R	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.R166R	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	344	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCTGTGCTTCGAGTCCCTGCT	0.577000													23	112					3.28513e-13	4.46896e-13	0.667858	1	0
MME	4311	broad.mit.edu	37	3	154834469	154834469	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:154834469A>T	ENST00000460393.1	+	6	576	c.456A>T	c.(454-456)agA>agT	p.R152S	MME_ENST00000493237.1_Missense_Mutation_p.R152S|MME_ENST00000492661.1_Missense_Mutation_p.R152S|MME_ENST00000462745.1_Missense_Mutation_p.R152S|MME_ENST00000360490.2_Missense_Mutation_p.R152S	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	152					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTGATAGCAGAGGTGGAGAAC	0.353000													43	50					0	0	0.870114	0	0
C5AR2	27202	broad.mit.edu	37	19	47844327	47844327	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:47844327G>T	ENST00000595464.1	+	2	489	c.271G>T	c.(271-273)Gca>Tca	p.A91S	C5AR2_ENST00000257267.2_Missense_Mutation_p.A91S|C5AR2_ENST00000600626.1_Missense_Mutation_p.A91S	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		GCCCATCCTGGCAGTGCCCAT	0.662000													35	93					6.29468e-14	8.76345e-14	0.804634	1	0
SLIT2	9353	broad.mit.edu	37	4	20525761	20525761	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:20525761A>G	ENST00000504154.1	+	14	1651	c.1399A>G	c.(1399-1401)Aga>Gga	p.R467G	SLIT2_ENST00000503823.1_Missense_Mutation_p.R467G|SLIT2_ENST00000503837.1_Missense_Mutation_p.R471G|SLIT2_ENST00000273739.5_Missense_Mutation_p.R471G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	467	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCAAACAAAAGAATTGGACA	0.478000													37	108					0	0	0.827153	0	0
CDH22	64405	broad.mit.edu	37	20	44839164	44839164	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:44839164C>A	ENST00000372262.3	-	6	1468	c.1068G>T	c.(1066-1068)gtG>gtT	p.V356V	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.V356V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	356	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTCCAGGATCACGGTGTGCA	0.682000													10	50					7.93312e-07	9.07501e-07	0.457914	1	0
PCDH10	57575	broad.mit.edu	37	4	134072687	134072687	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:134072687C>G	ENST00000264360.4	+	1	2218	c.1392C>G	c.(1390-1392)agC>agG	p.S464R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	464	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGCGTTTCAGCCAGCCGGTCT	0.627000													36	87					0	0	0.870114	0	0
CDH11	1009	broad.mit.edu	37	16	65006841	65006841	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:65006841G>T	ENST00000394156.3	-	9	1809	c.1356C>A	c.(1354-1356)gcC>gcA	p.A452A	CDH11_ENST00000268603.4_Silent_p.A452A|CDH11_ENST00000566827.1_Silent_p.A326A			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	452	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGTTGAGCCAGGCTGTTTCCT	0.388000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			36	72					5.48756e-27	9.4492e-27	0.859065	1	0
IGHJ3	28479	broad.mit.edu	37	14	106330819	106330819	+	RNA	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:106330819C>T	ENST00000463911.1	-	0	26																											TGACCATTGTCCCTTGGCCCC	0.567000													4	22					0	0	0.278610	0	0
CCDC148	130940	broad.mit.edu	37	2	159166103	159166103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:159166103G>A	ENST00000283233.5	-	9	1265	c.952C>T	c.(952-954)Caa>Taa	p.Q318*	CCDC148_ENST00000409187.1_Nonsense_Mutation_p.Q327*|CCDC148_ENST00000536771.1_Nonsense_Mutation_p.Q232*	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	318										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGATATTTTGCTGCTCTATA	0.358000													10	34					0	0	0.411799	0	0
HMHA1	23526	broad.mit.edu	37	19	1080511	1080511	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:1080511A>G	ENST00000313093.2	+	15	2108	c.1877A>G	c.(1876-1878)gAc>gGc	p.D626G	HMHA1_ENST00000539243.2_Missense_Mutation_p.D642G|HMHA1_ENST00000536472.1_Missense_Mutation_p.D494G|HMHA1_ENST00000586866.1_Missense_Mutation_p.D630G|HMHA1_ENST00000543365.1_Missense_Mutation_p.D509G|HMHA1_ENST00000590577.1_Missense_Mutation_p.D261G|HMHA1_ENST00000590214.1_Missense_Mutation_p.D653G	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	626					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGATCTCAGACTCGGACAGT	0.667000													13	62					0	0	0.520397	0	0
USH2A	7399	broad.mit.edu	37	1	216420315	216420315	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:216420315G>C	ENST00000366943.2	-	13	2807	c.2421C>G	c.(2419-2421)gtC>gtG	p.V807V	USH2A_ENST00000307340.3_Silent_p.V807V|USH2A_ENST00000366942.3_Silent_p.V807V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	807	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGCATTACAGACAGTCCCAG	0.463000										HNSCC(13;0.011)			25	56					0	0	0.706142	0	0
SCN7A	6332	broad.mit.edu	37	2	167322303	167322303	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:167322303A>G	ENST00000409855.1	-	7	985	c.859T>C	c.(859-861)Tat>Cat	p.Y287H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	287					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CGAATATAATATGGGTTTCCA	0.388000													11	73					0	0	0.435327	0	0
PADI4	23569	broad.mit.edu	37	1	17690070	17690070	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:17690070C>A	ENST00000375448.4	+	16	1838	c.1812C>A	c.(1810-1812)ccC>ccA	p.P604P		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	604					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCTTCGGGCCCGTCATCAACG	0.622000													3	16					6.4e-05	6.98497e-05	0.115264	1	0
FAT3	120114	broad.mit.edu	37	11	92088531	92088531	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:92088531G>C	ENST00000298047.6	+	1	3270	c.3253G>C	c.(3253-3255)Ggc>Cgc	p.G1085R	FAT3_ENST00000541502.1_Missense_Mutation_p.G1085R|FAT3_ENST00000525166.1_Missense_Mutation_p.G935R|FAT3_ENST00000409404.2_Missense_Mutation_p.G1085R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1085	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATCAGGGATGGCAGTGGTCT	0.468000										TCGA Ovarian(4;0.039)			22	59					0	0	0.654019	0	0
C2orf53	339779	broad.mit.edu	37	2	27360547	27360547	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:27360547G>T	ENST00000335524.3	-	3	1176	c.651C>A	c.(649-651)gtC>gtA	p.V217V		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	217										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCAGCTGGACCACCAGGG	0.667000													9	39					0.335167	0.336367	0.335167	1	0
DIP2A	23181	broad.mit.edu	37	21	47986499	47986499	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:47986499G>T	ENST00000318711.7	+	37	4552	c.4369G>T	c.(4369-4371)Ggg>Tgg	p.G1457W	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Missense_Mutation_p.G1456W|DIP2A_ENST00000400274.1_Missense_Mutation_p.G1452W	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1456					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GTATGTGGTTGGGTCTCTGGA	0.547000													27	27					1.30897e-18	2.0043e-18	0.740014	1	0
PTCH1	5727	broad.mit.edu	37	9	98229462	98229462	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:98229462G>T	ENST00000430669.2	-	15	2883	c.2298C>A	c.(2296-2298)gtC>gtA	p.V766V	PTCH1_ENST00000418258.1_Silent_p.V681V|PTCH1_ENST00000375274.2_Silent_p.V831V|PTCH1_ENST00000437951.1_Silent_p.V766V|PTCH1_ENST00000429896.2_Silent_p.V681V|PTCH1_ENST00000421141.1_Silent_p.V681V|PTCH1_ENST00000331920.6_Silent_p.V832V			Q13635	PTC1_HUMAN	patched 1	832					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V832V(2)|p.V831V(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTTCCAACATGACATACTTCA	0.463000													32	32					5.91797e-21	9.42936e-21	0.760397	1	0
FOXK1	221937	broad.mit.edu	37	7	4800840	4800840	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:4800840G>C	ENST00000328914.4	+	8	1842	c.1842G>C	c.(1840-1842)caG>caC	p.Q614H	FOXK1_ENST00000446823.1_Missense_Mutation_p.Q451H	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	614					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCCTCGGGCAGCACCACCTTC	0.667000													5	51					0	0	0.217242	0	0
GAB4	128954	broad.mit.edu	37	22	17468899	17468899	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:17468899C>A	ENST00000400588.1	-	3	744	c.637G>T	c.(637-639)Ggg>Tgg	p.G213W	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	213										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CGGAGACACCCCGGAGGTGCA	0.637000													7	10					0.00198382	0.0020714	0.248553	1	0
NOXO1	124056	broad.mit.edu	37	16	2029347	2029347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:2029347G>T	ENST00000354249.4	-	8	1188	c.819C>A	c.(817-819)taC>taA	p.Y273*	NOXO1_ENST00000566005.1_Nonsense_Mutation_p.Y278*|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Nonsense_Mutation_p.Y274*|NOXO1_ENST00000397280.4_Nonsense_Mutation_p.Y279*	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	279	SH3 2.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						CCCGGTCGCCGTACCTGCGAG	0.766000													10	3					2.80697e-09	3.43736e-09	0.387290	1	0
ARL14EP	120534	broad.mit.edu	37	11	30352892	30352892	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:30352892G>T	ENST00000282032.3	+	2	612	c.397G>T	c.(397-399)Gac>Tac	p.D133Y		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein																		TGATACTGAAGACCGCCAGAA	0.363000													32	36					2.24893e-16	3.3168e-16	0.847076	1	0
RP1	6101	broad.mit.edu	37	8	55533881	55533881	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:55533881A>C	ENST00000220676.1	+	2	503	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	119					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGACCTGGACAAAGCCCGTCG	0.716000													22	122					0	0	0.654019	0	0
ZNF248	57209	broad.mit.edu	37	10	38121492	38121492	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:38121492T>A	ENST00000395867.3	-	6	1341	c.791A>T	c.(790-792)cAt>cTt	p.H264L	ZNF248_ENST00000357328.4_Missense_Mutation_p.H264L|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATTTCCAAATGAGGTCTTTG	0.378000													20	37					0	0	0.608945	0	0
CTCFL	140690	broad.mit.edu	37	20	56083789	56083789	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:56083789C>A	ENST00000429804.2	-	8	1957	c.1397G>T	c.(1396-1398)tGc>tTc	p.C466F	CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000371196.2_Missense_Mutation_p.C516F|CTCFL_ENST00000422869.2_Missense_Mutation_p.C516F|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.C516F|CTCFL_ENST00000539382.1_Missense_Mutation_p.C311F|CTCFL_ENST00000502686.2_Missense_Mutation_p.C254F|CTCFL_ENST00000433949.2_Missense_Mutation_p.C516F|CTCFL_ENST00000432255.2_Missense_Mutation_p.C372F|CTCFL_ENST00000423479.2_Missense_Mutation_p.C516F	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	516					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCAAGAAAGGCAGGTGAATGG	0.448000													17	69					1.00905e-13	1.39001e-13	0.575678	1	0
HOOK3	84376	broad.mit.edu	37	8	42852780	42852780	+	Splice_Site	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:42852780T>C	ENST00000307602.4	+	16	1820	c.1620_splice	c.e16+1	p.D540_splice		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	540					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AAGCAGAAGATGTAAGTTTTA	0.299000			T	RET	papillary thyroid								9	13					0	0	0.361761	0	0
PKD1L2	114780	broad.mit.edu	37	16	81157276	81157276	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:81157276G>T	ENST00000525539.1	-	0	6462				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTCTCTAGCGTCAGCGTGAC	0.592000													61	86					2.01788e-20	3.18416e-20	0.870114	1	0
APC2	10297	broad.mit.edu	37	19	1465263	1465263	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:1465263C>A	ENST00000535453.1	+	14	3676	c.1963C>A	c.(1963-1965)Cgc>Agc	p.R655S	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.R381S|APC2_ENST00000233607.2_Missense_Mutation_p.R655S			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	655					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTCGGCCCGCAGCGCCCG	0.647000													3	12					0.115264	0.116331	0.115264	1	0
ZNF730	100129543	broad.mit.edu	37	19	23329244	23329244	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:23329244C>T	ENST00000597761.2	+	4	1597	c.1398C>T	c.(1396-1398)acC>acT	p.T466T		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GGTCCTCAACCCTCACTACAC	0.393000													17	43					0	0	0.592651	0	0
SLC6A17	388662	broad.mit.edu	37	1	110709553	110709553	+	Translation_Start_Site	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:110709553T>C	ENST00000331565.4	+	2	487	c.2T>C	c.(1-3)aTg>aCg	p.M1T	RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	1					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTGGCATCAATGCCGAAGAAC	0.577000													13	28					0	0	0.520397	0	0
MXRA5	25878	broad.mit.edu	37	X	3229375	3229375	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:3229375T>C	ENST00000217939.6	-	7	7023	c.6869A>G	c.(6868-6870)cAg>cGg	p.Q2290R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2290	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCATCCGACTGCATGAAGGA	0.572000													10	29					0	0	0.387290	0	0
TBX2	6909	broad.mit.edu	37	17	59479196	59479196	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:59479196C>A	ENST00000240328.3	+	2	828	c.547C>A	c.(547-549)Ccc>Acc	p.P183T	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	183					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CCCTGAGATGCCCAAACGCAT	0.572000													45	78					1.05386e-31	1.89791e-31	0.870114	1	0
CEP128	145508	broad.mit.edu	37	14	81259335	81259335	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:81259335C>A	ENST00000555265.1	-	14	1704	c.1329G>T	c.(1327-1329)caG>caT	p.Q443H	CEP128_ENST00000281129.3_Missense_Mutation_p.Q443H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	443						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCTCTGAGATCTGAAGGTCAG	0.532000													28	70					2.12542e-12	2.83052e-12	0.706142	1	0
LGR5	8549	broad.mit.edu	37	12	71977947	71977947	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:71977947G>A	ENST00000266674.5	+	18	2468	c.2157G>A	c.(2155-2157)gaG>gaA	p.E719E	LGR5_ENST00000540815.2_Silent_p.E695E|LGR5_ENST00000536515.1_Silent_p.E647E			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	719						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTTTTGGGGAGCCCAGCACCA	0.572000													84	34					0	0	0.870114	0	0
PRSS37	136242	broad.mit.edu	37	7	141537799	141537799	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:141537799C>T	ENST00000350549.3	-	3	662	c.291G>A	c.(289-291)caG>caA	p.Q97Q	PRSS37_ENST00000438520.1_Silent_p.Q97Q	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	97	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TGAGGTCATCCTGTGGGGCGC	0.532000													39	251					0	0	0.847076	0	0
BICC1	80114	broad.mit.edu	37	10	60566378	60566378	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:60566378C>T	ENST00000373886.3	+	16	2220	c.2216C>T	c.(2215-2217)aCc>aTc	p.T739I	BICC1_ENST00000263103.1_Missense_Mutation_p.T365I	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	739					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CTATTAGCCACCAAAGGTATG	0.343000													42	45					0	0	0.859065	0	0
CLDN2	9075	broad.mit.edu	37	X	106171707	106171707	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:106171707G>A	ENST00000541806.1	+	2	768	c.249G>A	c.(247-249)atG>atA	p.M83I	CLDN2_ENST00000336803.1_Missense_Mutation_p.M83I|CLDN2_ENST00000540876.1_Missense_Mutation_p.M83I	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	83					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCCAGGCCATGATGGTGACAT	0.567000													68	28					0	0	0.870114	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228178	111228178	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:111228178T>A	ENST00000393067.3	-	4	962	c.448A>T	c.(448-450)Aat>Tat	p.N150Y		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	150					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		ACCGTGACATTGGTGATGAGT	0.562000			T	BCL6	NHL								32	75					0	0	0.840704	0	0
EPHB3	2049	broad.mit.edu	37	3	184295686	184295686	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:184295686G>T	ENST00000330394.2	+	8	2092	c.1639_splice	c.e8-1	p.G547_splice	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	547						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTATCTCCAGGCTCTGGGGCC	0.627000													24	43					9.57634e-11	1.23187e-10	0.654019	1	0
GHR	2690	broad.mit.edu	37	5	42718896	42718896	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:42718896G>T	ENST00000230882.4	+	10	1477	c.1287G>T	c.(1285-1287)aaG>aaT	p.K429N	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.K407N|GHR_ENST00000537449.1_Missense_Mutation_p.K242N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	429					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGACCAGAAGAATCAAAATA	0.448000													7	85					1.12685e-05	1.25114e-05	0.307466	1	0
SGPL1	8879	broad.mit.edu	37	10	72630895	72630895	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:72630895G>A	ENST00000373202.3	+	10	1101	c.901G>A	c.(901-903)Gtg>Atg	p.V301M		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	301					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TGTCCCTGAAGTGGCCAAGGT	0.448000													31	22					0	0	0.779181	0	0
PDE1C	5137	broad.mit.edu	37	7	31887622	31887622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:31887622C>A	ENST00000396184.3	-	10	1144	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	PDE1C_ENST00000321453.7_Nonsense_Mutation_p.E314*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.E314*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.E314*|PDE1C_ENST00000396193.1_Nonsense_Mutation_p.E374*	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	314	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATATTCATTTCCTCGTCATCT	0.408000													17	105					2.23348e-06	2.53137e-06	0.500413	1	0
LOC440040	440040	broad.mit.edu	37	11	49598273	49598273	+	RNA	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:49598273A>T	ENST00000527477.1	+	0	877																											ATTCAGGTCCAGAATTTGCTC	0.478000													20	20					0	0	0.654019	0	0
MGMT	4255	broad.mit.edu	37	10	131557534	131557534	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:131557534C>T	ENST00000306010.7	+	4	468	c.436C>T	c.(436-438)Cag>Tag	p.Q146*		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	146										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GATTTCTTACCAGCAATTAGC	0.502000								Direct reversal of damage					55	60					0	0	0.870114	0	0
EML5	161436	broad.mit.edu	37	14	89168855	89168855	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:89168855C>A	ENST00000554922.1	-	14	2421	c.2173G>T	c.(2173-2175)Ggt>Tgt	p.G725C	EML5_ENST00000380664.5_Missense_Mutation_p.G725C|EML5_ENST00000352093.5_Missense_Mutation_p.G725C	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	725						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCATCATGACCCAGATAAAAA	0.398000													11	38					4.7546e-09	5.76841e-09	0.500413	1	0
COL11A1	1301	broad.mit.edu	37	1	103461558	103461558	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:103461558G>T	ENST00000358392.2	-	27	2635	c.2318C>A	c.(2317-2319)cCc>cAc	p.P773H	COL11A1_ENST00000370096.3_Missense_Mutation_p.P761H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P645H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P722H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	761	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			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)		TACTCCCCGGGGGCCCGGGTA	0.378000													18	66					1.96292e-10	2.49399e-10	0.592651	1	0
RYR3	6263	broad.mit.edu	37	15	34023798	34023798	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:34023798G>C	ENST00000389232.4	+	48	7397	c.7327G>C	c.(7327-7329)Gat>Cat	p.D2443H	RYR3_ENST00000415757.3_Missense_Mutation_p.D2443H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2443	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTCTGATTGATTCCACACT	0.473000													5	62					0	0	0.248553	0	0
ACTA1	58	broad.mit.edu	37	1	229568585	229568585	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:229568585C>T	ENST00000366684.3	-	3	274	c.172G>A	c.(172-174)Gac>Aac	p.D58N	ACTA1_ENST00000366683.2_Missense_Mutation_p.D58N	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	58					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGAGCCTCGTCGCCCACGTAG	0.597000													14	55					0	0	0.520397	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578756	44578756	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:44578756C>T	ENST00000289547.4	-	2	1295	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	NPC1L1_ENST00000423141.1_Missense_Mutation_p.A414T|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A414T|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A414T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	414					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CGGTTAGGAGCCGTCAGGATC	0.592000													73	92					0	0	0.870114	0	0
GATA4	2626	broad.mit.edu	37	8	11606487	11606487	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:11606487C>A	ENST00000335135.4	+	3	1234	c.676C>A	c.(676-678)Ccg>Acg	p.P226T	GATA4_ENST00000528712.1_Missense_Mutation_p.P20T|GATA4_ENST00000532059.1_Missense_Mutation_p.P227T	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	226					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TATGTCCACCCCGCTCTGGAG	0.557000													60	75					1.53716e-24	2.5923e-24	0.870114	1	0
TTLL4	9654	broad.mit.edu	37	2	219603604	219603604	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:219603604G>T	ENST00000392102.1	+	3	1545	c.1205G>T	c.(1204-1206)gGt>gTt	p.G402V	TTLL4_ENST00000442769.1_Missense_Mutation_p.G402V|TTLL4_ENST00000457313.1_Missense_Mutation_p.G237V|TTLL4_ENST00000258398.4_Missense_Mutation_p.G402V	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	402					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTCCTCCCTGGTGCCTCAGAT	0.552000													46	65					2.46787e-29	4.36435e-29	0.870114	1	0
MLXIPL	51085	broad.mit.edu	37	7	73011626	73011626	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:73011626C>T	ENST00000313375.3	-	9	1536	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	MLXIPL_ENST00000414749.2_Missense_Mutation_p.A497T|MLXIPL_ENST00000395189.1_Missense_Mutation_p.A404T|MLXIPL_ENST00000354613.1_Missense_Mutation_p.A497T|MLXIPL_ENST00000434326.1_Missense_Mutation_p.A404T|MLXIPL_ENST00000429400.2_Missense_Mutation_p.A497T	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	497					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGATGGGGCGGGGGGCTTG	0.662000													5	21					0	0	0.217242	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113761	117113761	+	Silent	SNP	A	A	G	rs75252447		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:117113761A>G	ENST00000310357.3	-	6	2346	c.2325T>C	c.(2323-2325)taT>taC	p.Y775Y	GPRC6A_ENST00000530250.1_Silent_p.Y600Y|GPRC6A_ENST00000368549.3_Silent_p.Y704Y	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	775					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGTAATTCTCATATTTGCCTT	0.408000													16	15					0	0	0.500413	0	0
ABCB5	340273	broad.mit.edu	37	7	20683140	20683140	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:20683140A>G	ENST00000404938.2	+	7	1215	c.563A>G	c.(562-564)aAc>aGc	p.N188S		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	374					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTGTTTCAAAACATGTCTACT	0.408000													46	94					0	0	0.870114	0	0
SYNJ2	8871	broad.mit.edu	37	6	158450044	158450044	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:158450044G>T	ENST00000355585.4	+	3	546	c.471G>T	c.(469-471)ggG>ggT	p.G157G	SYNJ2_ENST00000367122.2_Silent_p.G157G|SYNJ2_ENST00000449859.2_Silent_p.G106G|SYNJ2_ENST00000367121.3_Silent_p.G157G	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	157	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGAATGGGGGAACTCCTTCT	0.617000													26	38					7.11191e-15	1.01458e-14	0.769981	1	0
ROPN1B	152015	broad.mit.edu	37	3	125701152	125701152	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:125701152T>C	ENST00000514116.1	+	6	751	c.436T>C	c.(436-438)Tca>Cca	p.S146P	ROPN1B_ENST00000511082.1_Missense_Mutation_p.S54P|ROPN1B_ENST00000251776.4_Missense_Mutation_p.S146P|ROPN1B_ENST00000505382.1_Missense_Mutation_p.S54P			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	146					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		TGAGGTCTTATCATGTGACCA	0.428000													59	101					0	0	0.870114	0	0
PCDH8	5100	broad.mit.edu	37	13	53420645	53420645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:53420645C>A	ENST00000377942.3	-	1	2130	c.1927G>T	c.(1927-1929)Gag>Tag	p.E643*	PCDH8_ENST00000338862.4_Nonsense_Mutation_p.E643*	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	643	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTGGCTCCCTCGTCTGCATCC	0.706000													11	10					1.5842e-08	1.89621e-08	0.435327	1	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184318	26184318	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:26184318G>T	ENST00000356530.3	+	1	361	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	99					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CCAGACGGCCGTGCGCCTGCT	0.612000													25	115					7.38237e-10	9.17189e-10	0.706142	1	0
BCAS1	8537	broad.mit.edu	37	20	52645231	52645231	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:52645231C>A	ENST00000395961.3	-	4	589	c.423G>T	c.(421-423)ccG>ccT	p.P141P	BCAS1_ENST00000411563.1_Silent_p.P44P|BCAS1_ENST00000371435.2_Silent_p.P141P|BCAS1_ENST00000371440.3_Silent_p.P141P	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	141						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CAGCTGCCACCGGAAGTGTCC	0.592000													19	58					3.62473e-10	4.55528e-10	0.608945	1	0
EEF2	1938	broad.mit.edu	37	19	3984192	3984192	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:3984192T>A	ENST00000309311.6	-	2	248	c.160A>T	c.(160-162)Aca>Tca	p.T54S	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	54						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAAGCGTGTCTCCCCGGCC	0.627000													22	86					0	0	0.639603	0	0
DPP6	1804	broad.mit.edu	37	7	154598805	154598805	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:154598805T>G	ENST00000404039.1	+	16	2044	c.1457T>G	c.(1456-1458)tTc>tGc	p.F486C	DPP6_ENST00000377770.3_Missense_Mutation_p.F550C|DPP6_ENST00000427557.1_Missense_Mutation_p.F443C|DPP6_ENST00000332007.3_Missense_Mutation_p.F488C	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	550					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATGGACTTCTTCCTGCTCAAG	0.602000													69	80					0	0	0.870114	0	0
VIPAS39	63894	broad.mit.edu	37	14	77896091	77896091	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:77896091T>C	ENST00000553888.1	-	17	1709	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R	VIPAS39_ENST00000327028.4_Missense_Mutation_p.K387R|VIPAS39_ENST00000557658.1_Missense_Mutation_p.K400R|VIPAS39_ENST00000556412.1_Missense_Mutation_p.K426R|VIPAS39_ENST00000448935.2_Missense_Mutation_p.K351R|VIPAS39_ENST00000343765.2_Missense_Mutation_p.K400R	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		TGCTCTCTTCTTGGTATAGCC	0.493000													38	222					0	0	0.840704	0	0
PRX	57716	broad.mit.edu	37	19	40901739	40901739	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:40901739C>T	ENST00000324001.7	-	7	2790	c.2520G>A	c.(2518-2520)gaG>gaA	p.E840E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	840					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCATCCACCTCTGGCTGCA	0.637000													28	83					0	0	0.779181	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674160	3674160	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:3674160G>T	ENST00000344754.4	-	13	3441	c.3442C>A	c.(3442-3444)Cgc>Agc	p.R1148S	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1148S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1148	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACACCGCAGCGGTAGGAGGTG	0.657000													10	28					0.00829132	0.00854824	0.361761	1	0
COL6A3	1293	broad.mit.edu	37	2	238277618	238277618	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:238277618C>A	ENST00000295550.4	-	10	4940	c.4488G>T	c.(4486-4488)caG>caT	p.Q1496H	COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1290H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1296H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q889H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1295H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1290H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1496	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCACCGGGGCCTGGGATCTGT	0.537000													20	21					1.96292e-10	2.49399e-10	0.592651	1	0
SMG1	23049	broad.mit.edu	37	16	18875011	18875011	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:18875011C>G	ENST00000446231.2	-	25	4068	c.3656G>C	c.(3655-3657)aGc>aCc	p.S1219T	SMG1_ENST00000389467.3_Missense_Mutation_p.S1219T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1219	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GAGGGAAGTGCTACTGGTACT	0.383000													18	102					0	0	0.740014	0	0
FREM2	341640	broad.mit.edu	37	13	39451300	39451300	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:39451300A>T	ENST00000280481.7	+	21	8807	c.8591A>T	c.(8590-8592)tAc>tTc	p.Y2864F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2864					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACCCAAATGTACCTGCTCTCT	0.433000													94	72					0	0	0.870114	0	0
USP34	9736	broad.mit.edu	37	2	61505560	61505560	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:61505560C>A	ENST00000398571.2	-	40	5351	c.5275G>T	c.(5275-5277)Gat>Tat	p.D1759Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1759					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCCAAGGCATCTAAGTCGAGG	0.269000													5	9					0.000602214	0.00063762	0.184627	1	0
SLC7A4	6545	broad.mit.edu	37	22	21384316	21384316	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:21384316C>T	ENST00000382932.2	-	3	1374	c.1307G>A	c.(1306-1308)aGc>aAc	p.S436N	SLC7A4_ENST00000403586.1_Missense_Mutation_p.S436N	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	436					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAGAAGGAGCTCTGCTGCTT	0.642000													10	12					0	0	0.387290	0	0
SYNGR1	9145	broad.mit.edu	37	22	39770330	39770330	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:39770330A>G	ENST00000328933.5	+	2	124	c.109A>G	c.(109-111)Ata>Gta	p.I37V	SYNGR1_ENST00000318801.4_Missense_Mutation_p.I37V|SYNGR1_ENST00000381535.4_Missense_Mutation_p.I38V|SYNGR1_ENST00000406293.3_Missense_Mutation_p.I37V|SYNGR1_ENST00000216155.7_Missense_Mutation_p.I37V	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GCTGTTCTCCATAGTGGTGTT	0.652000													14	36					0	0	0.520397	0	0
NLRP5	126206	broad.mit.edu	37	19	56545007	56545007	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:56545007G>T	ENST00000390649.3	+	9	2547	c.2547G>T	c.(2545-2547)ctG>ctT	p.L849L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	849						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCACCCACCTGAAGGAAGAGG	0.483000													48	140					2.0833e-19	3.22772e-19	0.870114	1	0
DRD3	1814	broad.mit.edu	37	3	113858349	113858349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:113858349G>T	ENST00000383673.2	-	5	1151	c.721C>A	c.(721-723)Caa>Aaa	p.Q241K	DRD3_ENST00000295881.7_Missense_Mutation_p.Q241K|DRD3_ENST00000467632.1_Missense_Mutation_p.Q241K|DRD3_ENST00000460779.1_Missense_Mutation_p.Q241K	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	241					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GTACTTACTTGCTGGGGGAAG	0.512000													61	171					6.30617e-38	1.17671e-37	0.870114	1	0
DGKK	139189	broad.mit.edu	37	X	50136184	50136184	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:50136184C>A	ENST00000376025.2	-	0	1620							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AAGTCGAACACTTGAGATGGG	0.443000													12	9					4.75885e-15	6.84368e-15	0.520397	1	0
OR6Q1	219952	broad.mit.edu	37	11	57798776	57798776	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:57798776C>G	ENST00000302622.3	+	1	375	c.352C>G	c.(352-354)Cta>Gta	p.L118V	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGAGTGTTTCCTACTGGCTGC	0.517000													43	144					0	0	0.864702	0	0
CDCP2	200008	broad.mit.edu	37	1	54606816	54606816	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:54606816C>A	ENST00000371330.1	-	3	1565	c.718G>T	c.(718-720)Gac>Tac	p.D240Y		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	240	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ATGTTGAAGTCGGACTTGAAG	0.647000													3	33					0.00909568	0.00932367	0.150653	1	0
NIN	51199	broad.mit.edu	37	14	51288610	51288610	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:51288610C>T	ENST00000245441.5	-	3	355	c.165G>A	c.(163-165)caG>caA	p.Q55Q	NIN_ENST00000382043.4_Silent_p.Q55Q|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000382041.3_Silent_p.Q55Q|NIN_ENST00000453196.1_Silent_p.Q55Q|NIN_ENST00000530997.2_Silent_p.Q55Q|NIN_ENST00000389868.3_Silent_p.Q55Q|NIN_ENST00000324330.9_Silent_p.Q55Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	55	EF-hand 2.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGAGGTTGTCCTGAAGTAATG	0.627000			T	PDGFRB	MPD								85	399					0	0	0.870114	0	0
LIN7A	8825	broad.mit.edu	37	12	81283038	81283038	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:81283038T>C	ENST00000552864.1	-	2	395	c.193A>G	c.(193-195)Att>Gtt	p.I65V		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	65	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ACCTCTCGAATAGCTGTACAA	0.353000													48	25					0	0	0.870114	0	0
FMNL1	752	broad.mit.edu	37	17	43320594	43320594	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:43320594C>T	ENST00000331495.3	+	17	2456	c.2120C>T	c.(2119-2121)gCg>gTg	p.A707V	FMNL1_ENST00000587489.1_Missense_Mutation_p.A285V|FMNL1_ENST00000328118.3_Missense_Mutation_p.A707V	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	707	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCCAGCAAGGCGACACTCATT	0.602000													34	77					0	0	0.834066	0	0
COL5A1	1289	broad.mit.edu	37	9	137630605	137630605	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:137630605C>A	ENST00000371817.3	+	11	1859	c.1445C>A	c.(1444-1446)cCt>cAt	p.P482H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	482	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTTCCCGGACCTCCAGGAACC	0.557000													22	31					9.93527e-08	1.16854e-07	0.769981	1	0
PTH2R	5746	broad.mit.edu	37	2	209309497	209309497	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:209309497C>A	ENST00000272847.2	+	7	951	c.738C>A	c.(736-738)ttC>ttA	p.F246L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	246						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTATTTACTTCCTGGCTACAA	0.388000													81	136					1.35424e-50	2.63465e-50	0.870114	1	0
PDE5A	8654	broad.mit.edu	37	4	120528153	120528153	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:120528153C>T	ENST00000354960.3	-	2	771	c.452G>A	c.(451-453)aGa>aAa	p.R151K	PDE5A_ENST00000394439.1_Missense_Mutation_p.R99K|PDE5A_ENST00000264805.5_Missense_Mutation_p.R109K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	151					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TTCCAAGAGTCTTGAGCACTG	0.443000													52	66					0	0	0.870114	0	0
SLIT2	9353	broad.mit.edu	37	4	20570606	20570606	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:20570606C>T	ENST00000504154.1	+	29	3319	c.3067C>T	c.(3067-3069)Ctt>Ttt	p.L1023F	SLIT2_ENST00000503823.1_Missense_Mutation_p.L1015F|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1019F|SLIT2_ENST00000273739.5_Missense_Mutation_p.L1027F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1023	EGF-like 3; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTACACATGCCTTTGCCCACC	0.328000													17	52					0	0	0.592651	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166845888	166845888	+	Splice_Site	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:166845888C>G	ENST00000510118.1	-	17	1838		c.e17+1		RPS6KA2_ENST00000503859.1_Splice_Site|RPS6KA2_ENST00000481261.2_Splice_Site|RPS6KA2_ENST00000405189.3_Splice_Site|RPS6KA2_ENST00000265678.4_Splice_Site			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2						axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGACCACTCACATCCTTGAGG	0.498000													15	10					0	0	0.500413	0	0
COPG2	26958	broad.mit.edu	37	7	130295852	130295852	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:130295852T>A	ENST00000445977.2	-	9	798	c.709A>T	c.(709-711)Agt>Tgt	p.S237C				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	237					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					AGTAAGCGACTGGCAATTCGG	0.373000													69	76					0	0	0.870114	0	0
SH3D21	79729	broad.mit.edu	37	1	36785304	36785304	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:36785304C>T	ENST00000453908.2	+	14	1068	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	SH3D21_ENST00000426732.2_Missense_Mutation_p.A231V|SH3D21_ENST00000312808.4_5'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.A236V	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	231										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCGGTAAAGGCCCCCTCTGTG	0.627000													10	3					0	0	0.361761	0	0
TREX2	11219	broad.mit.edu	37	X	152710801	152710801	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:152710801G>C	ENST00000330912.2	-	13	1638	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	TREX2_ENST00000414588.1_Missense_Mutation_p.L72V|TREX2_ENST00000393862.2_Missense_Mutation_p.L30V|TREX2_ENST00000338525.2_Missense_Mutation_p.L30V|TREX2_ENST00000370231.2_Missense_Mutation_p.L30V|TREX2_ENST00000370232.1_Missense_Mutation_p.L73V|TREX2_ENST00000402951.1_Missense_Mutation_p.L73V|TREX2_ENST00000334497.2_Missense_Mutation_p.L73V			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	73					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGGGACAGCTCGGCAATC	0.637000								Editing and processing nucleases					5	7					0	0	0.184627	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196304	102196304	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:102196304C>G	ENST00000306176.1	+	11	1238	c.1138C>G	c.(1138-1140)Ccc>Gcc	p.P380A	ZPLD1_ENST00000491959.1_Missense_Mutation_p.P364A|ZPLD1_ENST00000466937.1_Missense_Mutation_p.P364A	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	364						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AAGTATGCCTCCCTTCCAGCT	0.458000													137	229					0	0	0.870114	0	0
UHMK1	127933	broad.mit.edu	37	1	162473555	162473555	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:162473555T>C	ENST00000489294.1	+	4	923	c.765T>C	c.(763-765)tcT>tcC	p.S255S	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Silent_p.S255S|UHMK1_ENST00000545294.1_Silent_p.S181S	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	255	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CAAACAGTTCTGCTATTATTG	0.363000													8	60					0	0	0.307466	0	0
KCNH2	3757	broad.mit.edu	37	7	150656680	150656680	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:150656680G>T	ENST00000392968.2	-	1	1284	c.164C>A	c.(163-165)cCc>cAc	p.P55H	KCNH2_ENST00000430723.3_Missense_Mutation_p.P151H|KCNH2_ENST00000262186.5_Missense_Mutation_p.P151H			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	151	PAS.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCAGCTGGTGGGGGGGCCCCG	0.592000													9	69					3.86212e-05	4.2283e-05	0.361761	1	0
JPH4	84502	broad.mit.edu	37	14	24041068	24041068	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:24041068C>T	ENST00000397118.3	-	5	2115	c.1213G>A	c.(1213-1215)Gca>Aca	p.A405T	JPH4_ENST00000544177.1_Missense_Mutation_p.A70T|JPH4_ENST00000356300.4_Missense_Mutation_p.A405T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	405					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		ATTCGAGCTGCCTCCACGGCC	0.637000													40	75					0	0	0.847076	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379341	114379341	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:114379341A>G	ENST00000312719.5	-	5	1309	c.121T>C	c.(121-123)Tgc>Cgc	p.C41R	HS3ST5_ENST00000411826.1_Missense_Mutation_p.C41R|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	41					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCAATGGGGCAAATGGGTTGT	0.517000													5	15					0	0	0.217242	0	0
ABHD12B	145447	broad.mit.edu	37	14	51352378	51352378	+	Splice_Site	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:51352378G>A	ENST00000337334.2	+	6	547		c.e6+1		ABHD12B_ENST00000554241.1_Splice_Site|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Splice_Site|ABHD12B_ENST00000395752.1_Splice_Site	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B								hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GACTACAGAGGTATGTGTTAA	0.423000													27	82					0	0	0.779181	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119557	17119557	+	RNA	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:17119557G>A	ENST00000426585.1	+	0	369																											TATTCCTTCGGAGTATCGTTC	0.353000													34	59					0	0	0.827153	0	0
PIGG	54872	broad.mit.edu	37	4	501299	501299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:501299G>C	ENST00000453061.2	+	4	782	c.676G>C	c.(676-678)Ggg>Cgg	p.G226R	PIGG_ENST00000504346.1_Missense_Mutation_p.G137R|PIGG_ENST00000509768.1_Missense_Mutation_p.G137R|PIGG_ENST00000310340.5_Missense_Mutation_p.G226R|PIGG_ENST00000503111.1_Missense_Mutation_p.G137R|PIGG_ENST00000296306.7_Missense_Mutation_p.G137R|PIGG_ENST00000536264.1_Missense_Mutation_p.G104R|PIGG_ENST00000383028.4_Intron	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	226					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CCACATTTCAGGGCCCAACAG	0.517000													23	35					0	0	0.681144	0	0
VRTN	55237	broad.mit.edu	37	14	74823805	74823805	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:74823805C>A	ENST00000256362.4	+	2	560	c.319C>A	c.(319-321)Cgc>Agc	p.R107S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	107					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCTGCGGGCCCGCACCGTGGT	0.642000													12	21					0.00010058	0.000109022	0.411799	1	0
ASXL1	171023	broad.mit.edu	37	20	31021287	31021287	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:31021287A>G	ENST00000375687.4	+	12	1710	c.1286A>G	c.(1285-1287)gAg>gGg	p.E429G	ASXL1_ENST00000306058.5_Missense_Mutation_p.E424G	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	429					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AAAAAACAGGAGTCAGAACAA	0.542000			"""F, N, Mis"""		"""MDS, CMML"""								46	55					0	0	0.870114	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357093	89357093	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:89357093C>G	ENST00000301030.4	-	6	1001	c.541G>C	c.(541-543)Gcc>Ccc	p.A181P	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A181P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	181						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ATGCGCCGGGCGTCCCCGCGG	0.617000													12	65					0	0	0.520397	0	0
DCDC1	341019	broad.mit.edu	37	11	31349726	31349726	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:31349726T>C	ENST00000597505.1	-	1	101	c.102A>G	c.(100-102)gaA>gaG	p.E34E	DCDC1_ENST00000452803.1_Silent_p.E34E			P59894	DCDC1_HUMAN	doublecortin domain containing 1	34					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)					CCAAAGTGCCTTCAGGGCTAC	0.373000													6	23					0	0	0.217242	0	0
CALCRL	10203	broad.mit.edu	37	2	188228138	188228138	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:188228138C>A	ENST00000409998.1	-	10	1373	c.592G>T	c.(592-594)Gtg>Ttg	p.V198L	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.V198L|CALCRL_ENST00000410068.1_Missense_Mutation_p.V198L|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	198						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTGTTGGCCACTGCAGTGAGG	0.433000													17	68					1.28384e-07	1.5001e-07	0.608945	1	0
MCM5	4174	broad.mit.edu	37	22	35812667	35812667	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:35812667G>T	ENST00000216122.4	+	12	1604	c.1450G>T	c.(1450-1452)Gtc>Ttc	p.V484F	MCM5_ENST00000382011.5_Missense_Mutation_p.V441F	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	484	MCM.				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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCGCTGCTCCGTCCTGGCTGC	0.562000													20	96					8.24728e-16	1.19922e-15	0.681144	1	0
MMRN1	22915	broad.mit.edu	37	4	90872765	90872765	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:90872765C>T	ENST00000394980.1	+	8	3447	c.3128C>T	c.(3127-3129)tCa>tTa	p.S1043L	MMRN1_ENST00000394981.1_Missense_Mutation_p.S346L|MMRN1_ENST00000264790.2_Missense_Mutation_p.S1043L|MMRN1_ENST00000508372.1_Missense_Mutation_p.S785L			Q13201	MMRN1_HUMAN	multimerin 1	1043	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAGGAGTATTCAAGCTGTAGT	0.423000													4	35					0	0	0.184627	0	0
ATP7A	538	broad.mit.edu	37	X	77245344	77245344	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:77245344G>T	ENST00000341514.6	+	4	1381	c.1226G>T	c.(1225-1227)cGa>cTa	p.R409L	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.R409L	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	409	HMA 4.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAATCCATACGAGTCTCCCTT	0.413000													84	41					6.21051e-42	1.17562e-41	0.870114	1	0
TIGIT	201633	broad.mit.edu	37	3	114026868	114026868	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:114026868G>T	ENST00000481065.1	+	5	3441	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W	TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000486257.1_Missense_Mutation_p.G209W|TIGIT_ENST00000383671.3_Missense_Mutation_p.G209W			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	209					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TGCACCTGCTGGGCTCTGTGG	0.577000													57	118					2.22609e-26	3.81642e-26	0.870114	1	0
OR5D13	390142	broad.mit.edu	37	11	55541066	55541066	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55541066C>G	ENST00000361760.1	+	1	153	c.153C>G	c.(151-153)atC>atG	p.I51M		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TAATAATCATCAGACTCAATT	0.398000													34	163					0	0	0.819951	0	0
CNTF	1270	broad.mit.edu	37	11	58391837	58391837	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:58391837G>T	ENST00000361987.4	+	2	525	c.445G>T	c.(445-447)Ggt>Tgt	p.G149C	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	149					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGTTGGAGATGGTGGTCTCTT	0.478000													64	65					1.39921e-30	2.49695e-30	0.870114	1	0
HIST1H1D	3007	broad.mit.edu	37	6	26235027	26235027	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:26235027G>T	ENST00000244534.5	-	1	189	c.135C>A	c.(133-135)atC>atA	p.I45I		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	45	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTGCCTTGGTGATAAGCTCAG	0.542000													24	105					7.11191e-15	1.01458e-14	0.769981	1	0
COL3A1	1281	broad.mit.edu	37	2	189866262	189866262	+	Splice_Site	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:189866262G>A	ENST00000304636.3	+	34	2508	c.2337_splice	c.e34-1	p.G780_splice	COL3A1_ENST00000317840.5_Splice_Site_p.G780_splice	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	780	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTTTTTCCAGGGTGAAGGTGG	0.448000													20	105					0	0	0.624587	0	0
YBX1	4904	broad.mit.edu	37	1	43166675	43166675	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:43166675G>A	ENST00000321358.7	+	7	1103	c.964G>A	c.(964-966)Ggg>Agg	p.G322R		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	322					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGAGCAGGGCGGGGCTGAGTA	0.542000													27	34					0	0	0.706142	0	0
NUP93	9688	broad.mit.edu	37	16	56839444	56839444	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:56839444G>T	ENST00000564887.1	+	3	649	c.20G>T	c.(19-21)cGg>cTg	p.R7L	NUP93_ENST00000569595.1_3'UTR|NUP93_ENST00000308159.5_Missense_Mutation_p.R130L|NUP93_ENST00000542526.1_Missense_Mutation_p.R7L|NUP93_ENST00000569842.1_Missense_Mutation_p.R130L	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	130					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GAGTACCATCGGGAGTCAATG	0.473000													12	69					4.96729e-08	5.86337e-08	0.575678	1	0
HBB	3043	broad.mit.edu	37	11	5247899	5247899	+	Missense_Mutation	SNP	C	C	A	rs33916541		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:5247899C>A	ENST00000335295.3	-	2	398	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	75			G -> R (in Aalborg; unstable).|G -> V (in Bushwick; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	p.G75C(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	TGAGCCAGGCCATCACTAAAG	0.537000									Sickle Cell Trait				39	57					4.32679e-17	6.47864e-17	0.827153	1	0
FLNC	2318	broad.mit.edu	37	7	128478828	128478828	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:128478828G>T	ENST00000325888.8	+	8	1643	c.1382G>T	c.(1381-1383)cGc>cTc	p.R461L	FLNC_ENST00000346177.6_Missense_Mutation_p.R461L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	461					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCATCACCCGCAGTCCCTTC	0.617000													77	63					3.24273e-39	6.09137e-39	0.870114	1	0
KIF21B	23046	broad.mit.edu	37	1	200978549	200978549	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:200978549C>G	ENST00000332129.2	-	2	425	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	KIF21B_ENST00000422435.2_Missense_Mutation_p.E37Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.E37Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.E37Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	37	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACCTGGGGCTCTCCCGGGGTA	0.577000													19	71					0	0	0.667858	0	0
CDH22	64405	broad.mit.edu	37	20	44839089	44839089	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:44839089C>A	ENST00000372262.3	-	6	1543	c.1143G>T	c.(1141-1143)gtG>gtT	p.V381V	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.V381V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	381	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGCCACGCGCACGATCGCCT	0.716000													5	16					8.12818e-05	8.83968e-05	0.248553	1	0
MKRN3	7681	broad.mit.edu	37	15	23811275	23811275	+	Missense_Mutation	SNP	C	C	G	rs146391768		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:23811275C>G	ENST00000314520.3	+	1	822	c.346C>G	c.(346-348)Cgc>Ggc	p.R116G	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	116						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGAGAACTGTCGCTATTCGCA	0.597000													26	43					0	0	0.750413	0	0
ZNF226	7769	broad.mit.edu	37	19	44681628	44681628	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:44681628G>T	ENST00000590089.1	+	7	2580	c.2213G>T	c.(2212-2214)cGg>cTg	p.R738L	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.R738L|ZNF226_ENST00000337433.5_Missense_Mutation_p.R738L			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GTCTTCAGTCGGTCTTCACAA	0.433000													25	74					8.58068e-18	1.29469e-17	0.717897	1	0
CECR6	27439	broad.mit.edu	37	22	17600988	17600988	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:17600988G>A	ENST00000399875.1	-	0	161				CECR6_ENST00000331437.3_Missense_Mutation_p.R344C	NM_001163079.1	NP_001156551.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6											haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		AAGGGCGCGCGTAGCTCGATG	0.662000													5	115					0	0	0.217242	0	0
TMEM18	129787	broad.mit.edu	37	2	669610	669610	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:669610C>A	ENST00000281017.3	-	5	486	c.393G>T	c.(391-393)aaG>aaT	p.K131N	TMEM18_ENST00000405941.3_Missense_Mutation_p.K134N|TMEM18_ENST00000355654.2_Missense_Mutation_p.K118N	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	131					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		ttttcttttcctttcttctct	0.468000													5	45					0.0215528	0.0219326	0.217242	1	0
OR4Q3	441669	broad.mit.edu	37	14	20215626	20215626	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:20215626C>A	ENST00000331723.1	+	1	40	c.40C>A	c.(40-42)Ctt>Att	p.L14I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGAATTTGTTCTTCTGGGCCT	0.353000													14	184					2.32078e-09	2.85088e-09	0.479597	1	0
GALNT13	114805	broad.mit.edu	37	2	155102365	155102365	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:155102365G>C	ENST00000392825.3	+	7	1294	c.727G>C	c.(727-729)Gat>Cat	p.D243H	GALNT13_ENST00000409237.1_Missense_Mutation_p.D243H	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	243						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GATTAGTGATGATACTTTTGA	0.368000													27	100					0	0	0.769981	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482200	54482200	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:54482200G>T	ENST00000317802.7	-	1	1209	c.1089C>A	c.(1087-1089)gaC>gaA	p.D363E	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	363					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GAGCAATCCTGTCGGACTCTG	0.537000													12	42					6.72482e-11	8.66765e-11	0.479597	1	0
CTSW	1521	broad.mit.edu	37	11	65650961	65650961	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:65650961T>C	ENST00000528419.1	+	9	1090	c.1086T>C	c.(1084-1086)taT>taC	p.Y362Y	CTSW_ENST00000307886.3_Intron			P56202	CATW_HUMAN	cathepsin W	0					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCCGCCCCTATGTCCCCTAAC	0.592000													36	240					0	0	0.834066	0	0
SLX4IP	128710	broad.mit.edu	37	20	10582427	10582427	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:10582427C>T	ENST00000334534.5	+	6	545	c.365C>T	c.(364-366)gCa>gTa	p.A122V		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		AGTCAGCTTGCATTCAGTCGT	0.323000													12	30					0	0	0.479597	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914560	51914560	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:51914560G>T	ENST00000353836.5	-	10	1823	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	SIGLEC10_ENST00000441969.3_Silent_p.P476P|SIGLEC10_ENST00000339313.5_Silent_p.P629P|SIGLEC10_ENST00000525998.1_Silent_p.P444P|SIGLEC10_ENST00000442846.3_Silent_p.P386P|SIGLEC10_ENST00000436984.2_Silent_p.P486P|SIGLEC10_ENST00000439889.2_Silent_p.P571P|SIGLEC10_ENST00000432469.2_Silent_p.P451P|SIGLEC10_ENST00000356298.5_Silent_p.P629P	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	629					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATTCTGGGGAGGGAGCACCTG	0.512000													21	82					5.35356e-11	6.93208e-11	0.639603	1	0
MFSD1	64747	broad.mit.edu	37	3	158537524	158537524	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:158537524C>A	ENST00000415822.2	+	8	1027	c.886C>A	c.(886-888)Caa>Aaa	p.Q296K	MFSD1_ENST00000392813.4_Missense_Mutation_p.Q257K|MFSD1_ENST00000264266.8_Missense_Mutation_p.Q247K	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	247					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCATAAAGAACAAGGAAAAAC	0.368000													17	34					2.94398e-08	3.50245e-08	0.557998	1	0
DCHS1	8642	broad.mit.edu	37	11	6650723	6650723	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:6650723C>A	ENST00000299441.3	-	12	5532	c.5121G>T	c.(5119-5121)cgG>cgT	p.R1707R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1707	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCAGGGCCCGAAGAGTCG	0.552000													9	9					1.08611e-07	1.27134e-07	0.387290	1	0
LOC349160	349160	broad.mit.edu	37	7	136848996	136848996	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:136848996C>A	ENST00000439694.1	-	0	164				AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000599888.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA																							CCTGGATGATCCAGAACATAA	0.522000													26	43					7.76418e-22	1.25959e-21	0.693898	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67318226	67318226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:67318226G>T	ENST00000360461.5	+	11	4093	c.1558G>T	c.(1558-1560)Gag>Tag	p.E520*	PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.E439*|PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.E520*|PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.E520*	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	520					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GACTGGCTGGGAGGCGGCTGA	0.667000													11	15					9.31168e-06	1.03857e-05	0.435327	1	0
MYH11	4629	broad.mit.edu	37	16	15831325	15831325	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:15831325G>T	ENST00000338282.6	-	25	3380	c.3274C>A	c.(3274-3276)Ctg>Atg	p.L1092M	MYH11_ENST00000576790.1_Missense_Mutation_p.L1092M|MYH11_ENST00000452625.2_Missense_Mutation_p.L1099M|MYH11_ENST00000396324.3_Missense_Mutation_p.L1099M|MYH11_ENST00000300036.5_Missense_Mutation_p.L1092M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1092					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGCCTGCAGCTCCTCCTCC	0.632000			T	CBFB	AML								19	52					2.39187e-15	3.46257e-15	0.575678	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215589	140215589	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140215589G>T	ENST00000525929.1	+	1	1621	c.1621G>T	c.(1621-1623)Ggc>Tgc	p.G541C	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G541C|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGATGCGGGCGTGCCGCC	0.687000													135	80					4.38736e-65	8.69938e-65	0.870114	1	0
NDST2	8509	broad.mit.edu	37	10	75567302	75567302	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:75567302T>C	ENST00000299641.4	-	4	1446	c.476A>G	c.(475-477)cAt>cGt	p.H159R	NDST2_ENST00000309979.6_Missense_Mutation_p.H282R	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	282	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.H282R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGAAAGGCCATGTCCAAAGAG	0.577000													16	18					0	0	0.557998	0	0
BARD1	580	broad.mit.edu	37	2	215646105	215646105	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:215646105T>A	ENST00000260947.4	-	4	627	c.493A>T	c.(493-495)Acc>Tcc	p.T165S	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.T21S	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	165					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCAGGCTGGGTTTGCACTGAA	0.393000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				40	60					0	0	0.870114	0	0
HEATR5B	54497	broad.mit.edu	37	2	37293036	37293036	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:37293036T>A	ENST00000233099.5	-	9	1290	c.1195A>T	c.(1195-1197)Aca>Tca	p.T399S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.T399S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	399							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCTCCACTTGTGTCATTCACT	0.428000													17	45					0	0	0.592651	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4055177	4055177	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:4055177G>A	ENST00000322357.4	-	2	332	c.54C>T	c.(52-54)agC>agT	p.S18S	ZBTB7A_ENST00000601588.1_Silent_p.S18S	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	18					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGGATGTCGCTGCTGTGGT	0.706000													7	13					0	0	0.307466	0	0
KLHL4	56062	broad.mit.edu	37	X	86772935	86772935	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:86772935G>C	ENST00000373119.4	+	1	184	c.39G>C	c.(37-39)caG>caC	p.Q13H	KLHL4_ENST00000373114.4_Missense_Mutation_p.Q13H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	13						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATGTGAAACAGATCCTAAGGC	0.473000													56	27					0	0	0.870114	0	0
MMRN1	22915	broad.mit.edu	37	4	90874184	90874184	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:90874184T>A	ENST00000394980.1	+	9	3621	c.3302T>A	c.(3301-3303)gTg>gAg	p.V1101E	MMRN1_ENST00000394981.1_Missense_Mutation_p.V404E|MMRN1_ENST00000264790.2_Missense_Mutation_p.V1101E|MMRN1_ENST00000508372.1_Missense_Mutation_p.V843E			Q13201	MMRN1_HUMAN	multimerin 1	1101	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GCACCCATGGTGGCATTTTTT	0.338000													53	54					0	0	0.870114	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756526	94756526	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:94756526G>T	ENST00000554723.1	-	2	943	c.525C>A	c.(523-525)ccC>ccA	p.P175P	SERPINA10_ENST00000261994.4_Silent_p.P135P|SERPINA10_ENST00000393096.1_Silent_p.P135P|SERPINA10_ENST00000554173.1_Silent_p.P135P			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	135					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CGGGCTTGGTGGGCTTCAGGG	0.602000													12	59					0.00010058	0.000109022	0.411799	1	0
HMHA1	23526	broad.mit.edu	37	19	1080515	1080515	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:1080515G>T	ENST00000313093.2	+	15	2112	c.1881G>T	c.(1879-1881)tcG>tcT	p.S627S	HMHA1_ENST00000539243.2_Silent_p.S643S|HMHA1_ENST00000536472.1_Silent_p.S495S|HMHA1_ENST00000586866.1_Silent_p.S631S|HMHA1_ENST00000543365.1_Silent_p.S510S|HMHA1_ENST00000590577.1_Silent_p.S262S|HMHA1_ENST00000590214.1_Silent_p.S654S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	627					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCAGACTCGGACAGTGGGC	0.662000													13	62					4.75885e-15	6.84368e-15	0.520397	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065336	55065336	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55065336C>A	ENST00000526016.1	-	0	372					NR_038174.2																						ATCACTTACCCGGCGTTCCTC	0.478000													11	56					7.03913e-09	8.4876e-09	0.411799	1	0
IRX5	10265	broad.mit.edu	37	16	54966694	54966694	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:54966694G>T	ENST00000394636.4	+	2	871	c.534G>T	c.(532-534)acG>acT	p.T178T	IRX5_ENST00000320990.5_Silent_p.T178T|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.T112T			P78411	IRX5_HUMAN	iroquois homeobox 5	178					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ATAAAATGACGTGGACGCCGC	0.597000													28	55					7.41945e-09	8.92425e-09	0.693898	1	0
HMGCS1	3157	broad.mit.edu	37	5	43293009	43293009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:43293009C>A	ENST00000325110.6	-	9	1456	c.1250G>T	c.(1249-1251)gGt>gTt	p.G417V	HMGCS1_ENST00000433297.2_Missense_Mutation_p.G417V	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	417					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TGGTGCCACACCAGTTCTTGA	0.348000													31	73					1.42033e-22	2.3351e-22	0.796494	1	0
GAB1	2549	broad.mit.edu	37	4	144390295	144390295	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:144390295G>T	ENST00000262995.4	+	11	2555	c.2128G>T	c.(2128-2130)Ggg>Tgg	p.G710W	GAB1_ENST00000262994.4_Missense_Mutation_p.G680W|GAB1_ENST00000505913.1_Missense_Mutation_p.G577W	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	680					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	p.G710W(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CTGGACAGATGGGAGACAGTC	0.438000													15	21					3.57192e-18	5.45656e-18	0.539581	1	0
RPL31	6160	broad.mit.edu	37	2	101619266	101619266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:101619266G>T	ENST00000409711.1	+	1	114	c.103G>T	c.(103-105)Gga>Tga	p.G35*	RPL31_ENST00000409650.1_Nonsense_Mutation_p.G35*|RPL31_ENST00000409320.3_Nonsense_Mutation_p.G35*|RPL31_ENST00000409000.1_Nonsense_Mutation_p.G35*|RPL31_ENST00000409038.1_Nonsense_Mutation_p.G35*|RPL31_ENST00000264258.3_Nonsense_Mutation_p.G35*|RPL31_ENST00000409733.1_Nonsense_Mutation_p.G35*|RPL31_ENST00000409028.4_Nonsense_Mutation_p.G35*			P62899	RL31_HUMAN	ribosomal protein L31	35					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						GCGCATCCATGGAGTGTGAGT	0.537000													7	35					1.12685e-05	1.25114e-05	0.307466	1	0
BAGE2	85319	broad.mit.edu	37	21	11038912	11038912	+	RNA	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:11038912G>A	ENST00000470054.1	-	0	1291									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGTTGGGGAGGAAGACACAT	0.423000													18	415					0	0	0.539581	0	0
LGR5	8549	broad.mit.edu	37	12	71978407	71978407	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:71978407A>T	ENST00000266674.5	+	18	2928	c.2617A>T	c.(2617-2619)Agc>Tgc	p.S873C	LGR5_ENST00000540815.2_Missense_Mutation_p.S849C|LGR5_ENST00000536515.1_Missense_Mutation_p.S801C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	873						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AACCTTTACCAGCTCCAGCAT	0.483000													116	87					0	0	0.870114	0	0
CFAP54	144535	broad.mit.edu	37	12	97043710	97043710	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:97043710G>T	ENST00000524981.3	+	2	85	c.85G>T	c.(85-87)Gat>Tat	p.D29Y				Q6ZTY8	CL063_HUMAN		3										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CATAATGAGTGATGAAAATAT	0.318000													25	38					4.74835e-14	6.62946e-14	0.750413	1	0
MOGAT3	346606	broad.mit.edu	37	7	100841914	100841914	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:100841914C>A	ENST00000223114.4	-	4	652	c.486G>T	c.(484-486)atG>atT	p.M162I	MOGAT3_ENST00000440203.2_Missense_Mutation_p.M162I|MOGAT3_ENST00000379423.3_Missense_Mutation_p.M162I	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	162					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	p.M162I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CACCAAAGGACATGATGTAGT	0.627000													14	44					5.3912e-06	6.05431e-06	0.539581	1	0
NCAM1	4684	broad.mit.edu	37	11	113078066	113078066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:113078066G>T	ENST00000316851.7	+	5	682	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Nonsense_Mutation_p.E120*|NCAM1_ENST00000401611.2_Nonsense_Mutation_p.E237*	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	238	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGCGATGCCGAAGGCTTCCC	0.537000													30	83					5.8336e-16	8.50138e-16	0.779181	1	0
CPSF6	11052	broad.mit.edu	37	12	69653262	69653262	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:69653262G>T	ENST00000435070.2	+	7	1364	c.1254G>T	c.(1252-1254)atG>atT	p.M418I	CPSF6_ENST00000266679.8_Missense_Mutation_p.M455I|CPSF6_ENST00000456847.3_Missense_Mutation_p.M345I|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	418					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AAGAAATCATGAATAGAAATA	0.353000													81	78					2.68927e-46	5.1959e-46	0.870114	1	0
OR2M2	391194	broad.mit.edu	37	1	248343894	248343894	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:248343894T>C	ENST00000359682.2	+	1	607	c.607T>C	c.(607-609)Tgt>Cgt	p.C203R		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTCATCTGCTGTATAGTAAT	0.428000													60	143					0	0	0.870114	0	0
FADS6	283985	broad.mit.edu	37	17	72888695	72888695	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:72888695G>A	ENST00000310226.6	-	2	326	c.312C>T	c.(310-312)acC>acT	p.T104T		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	110					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GTTTGGACTCGGTGAGGGCCC	0.592000													7	26					0	0	0.307466	0	0
XIRP2	129446	broad.mit.edu	37	2	168101644	168101644	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:168101644A>T	ENST00000409195.1	+	9	3831	c.3742A>T	c.(3742-3744)Att>Ttt	p.I1248F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I1026F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I1248F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1073					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACCAACCAATTGATAAGAT	0.348000													25	27					0	0	0.639603	0	0
EPYC	1833	broad.mit.edu	37	12	91365617	91365617	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:91365617T>C	ENST00000261172.3	-	5	754	c.662A>G	c.(661-663)aAt>aGt	p.N221S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	221					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TCCAAGTCTATTGTTGCTAAT	0.368000													8	44					0	0	0.335167	0	0
VPS13D	55187	broad.mit.edu	37	1	12387804	12387804	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:12387804C>T	ENST00000358136.3	+	36	8220	c.8090C>T	c.(8089-8091)gCa>gTa	p.A2697V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2697V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2697					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGGGCTGTGGCAGCGCCATTG	0.517000													52	62					0	0	0.870114	0	0
CENPF	1063	broad.mit.edu	37	1	214832271	214832271	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:214832271G>T	ENST00000366955.3	+	19	9209	c.9041G>T	c.(9040-9042)cGc>cTc	p.R3014L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3110	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACCAGCCCCCGCCTGGCTGCA	0.512000											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	103					1.74807e-11	2.29376e-11	0.750413	1	0
SCIN	85477	broad.mit.edu	37	7	12680115	12680115	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:12680115C>A	ENST00000297029.5	+	11	1655	c.1554C>A	c.(1552-1554)aaC>aaA	p.N518K	SCIN_ENST00000445618.2_Missense_Mutation_p.N271K|SCIN_ENST00000519209.1_Missense_Mutation_p.N271K	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	518	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCCGGAGAAACCTGGCATCTA	0.448000													8	29					1.12685e-05	1.25114e-05	0.307466	1	0
GPR112	139378	broad.mit.edu	37	X	135428792	135428792	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:135428792C>A	ENST00000394143.1	+	6	3218	c.2927C>A	c.(2926-2928)aCc>aAc	p.T976N	GPR112_ENST00000412101.1_Missense_Mutation_p.T771N|GPR112_ENST00000394141.1_Missense_Mutation_p.T771N|GPR112_ENST00000287534.4_Missense_Mutation_p.T913N|GPR112_ENST00000370652.1_Missense_Mutation_p.T976N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	976					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATATCAGAAACCAGTTTCTCC	0.507000													71	44					6.86016e-32	1.23773e-31	0.870114	1	0
GOLGB1	2804	broad.mit.edu	37	3	121415438	121415438	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:121415438T>C	ENST00000393667.3	-	13	4042	c.3932A>G	c.(3931-3933)cAg>cGg	p.Q1311R	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q1306R	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1306					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGCCTTAATCTGGGCAACAGA	0.448000													35	44					0	0	0.788014	0	0
ZNF266	10781	broad.mit.edu	37	19	9525062	9525062	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9525062C>A	ENST00000592904.1	-	5	2615	c.539G>T	c.(538-540)gGa>gTa	p.G180V	ZNF266_ENST00000588933.1_Missense_Mutation_p.G180V|ZNF266_ENST00000361451.2_Missense_Mutation_p.G180V|ZNF266_ENST00000361151.1_Missense_Mutation_p.G180V|ZNF266_ENST00000592292.1_Missense_Mutation_p.G180V|ZNF266_ENST00000588221.1_Missense_Mutation_p.G180V|ZNF266_ENST00000590306.1_Missense_Mutation_p.G180V			Q14584	ZN266_HUMAN	zinc finger protein 266	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GAGACTTTCTCCATTGTGAGT	0.433000													13	39					4.93089e-13	6.68925e-13	0.457914	1	0
CHSY1	22856	broad.mit.edu	37	15	101718987	101718987	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:101718987C>A	ENST00000254190.3	-	3	1490	c.1015G>T	c.(1015-1017)Gtc>Ttc	p.V339F	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	339					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCATCAGGACAATTTCGCGG	0.532000													34	20					5.71845e-15	8.21164e-15	0.812448	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862850	10862850	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:10862850C>A	ENST00000559480.1	+	0	146																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TACACCATCACCAGCTACTGT	0.577000													30	46					3.56509e-09	4.35757e-09	0.859065	1	0
CRYGD	1421	broad.mit.edu	37	2	208986600	208986600	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:208986600C>A	ENST00000264376.4	-	3	349	c.322G>T	c.(322-324)Gac>Tac	p.D108Y		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	108	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CAGGAGCAGTCCTCAGTGAAC	0.527000													32	99					9.45814e-24	1.57342e-23	0.804634	1	0
HEATR5B	54497	broad.mit.edu	37	2	37293031	37293031	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:37293031A>T	ENST00000233099.5	-	9	1295	c.1200T>A	c.(1198-1200)agT>agA	p.S400R	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S400R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	400							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTTTTCTCCACTTGTGTCAT	0.438000													15	46					0	0	0.557998	0	0
MUC16	94025	broad.mit.edu	37	19	9012843	9012843	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9012843C>A	ENST00000397910.4	-	34	38804	c.38601G>T	c.(38599-38601)caG>caT	p.Q12867H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12869	SEA 6.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTCCTCGTACTGCAGGTTGG	0.567000													64	194					1.38705e-31	2.49339e-31	0.870114	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058608	152058608	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:152058608G>A	ENST00000368806.1	-	3	1614	c.1550C>T	c.(1549-1551)aCc>aTc	p.T517I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	517							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATGAGTCTTGGTGACCCTAGT	0.502000													71	90					0	0	0.870114	0	0
FUT10	84750	broad.mit.edu	37	8	33230146	33230146	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:33230146C>A	ENST00000327671.5	-	5	2020	c.1389G>T	c.(1387-1389)agG>agT	p.R463S	FUT10_ENST00000518672.1_Missense_Mutation_p.R435S|FUT10_ENST00000524021.1_Missense_Mutation_p.R435S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	463					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AGTTTTGATTCCTATCAACCA	0.428000													22	24					6.21321e-17	9.26788e-17	0.639603	1	0
IGHG1	3500	broad.mit.edu	37	14	106208525	106208525	+	RNA	SNP	G	G	C	rs1042248		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:106208525G>C	ENST00000390548.2	-	0	374																											TTGGGGGGAAGAGGAAGACTG	0.612000													34	76					0	0	0.834066	0	0
ABCF3	55324	broad.mit.edu	37	3	183910685	183910685	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:183910685G>T	ENST00000429586.2	+	18	1935		c.e18+1		EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Splice_Site	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3								ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGTTTCCTGGTGAGTTAGGG	0.582000													13	35					2.32078e-09	2.85088e-09	0.479597	1	0
HBE1	3046	broad.mit.edu	37	11	5291044	5291044	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:5291044C>A	ENST00000380237.1	-	3	421	c.77G>T	c.(76-78)gGt>gTt	p.G26V	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.G26V			P02100	HBE_HUMAN	hemoglobin, epsilon 1	26					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGGCTTCACCTCCAGCCTC	0.488000													23	23					2.65835e-16	3.90302e-16	0.717897	1	0
TTC29	83894	broad.mit.edu	37	4	147795999	147795999	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:147795999C>A	ENST00000513335.1	-	8	945	c.746G>T	c.(745-747)cGc>cTc	p.R249L	TTC29_ENST00000325106.4_Missense_Mutation_p.R223L|TTC29_ENST00000398886.4_Missense_Mutation_p.R249L			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	223							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GTTGAGAGAGCGGCCTGTCTC	0.438000													7	34					0.00307968	0.00320032	0.278610	1	0
COL12A1	1303	broad.mit.edu	37	6	75862093	75862093	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:75862093C>A	ENST00000322507.8	-	18	3980	c.3671G>T	c.(3670-3672)cGt>cTt	p.R1224L	COL12A1_ENST00000416123.2_Missense_Mutation_p.R1224L|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1224L|COL12A1_ENST00000345356.6_Missense_Mutation_p.R60L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1224	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCCACAATACGAGAAATGAA	0.443000													9	34					1.58986e-06	1.80608e-06	0.361761	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047094	46047094	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:46047094C>G	ENST00000397911.3	+	1	55	c.6C>G	c.(4-6)gcC>gcG	p.A2A	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_3'UTR	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	2						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CCAGCATGGCCGCGTCCACCA	0.627000													59	113					0	0	0.870114	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21891947	21891947	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:21891947C>A	ENST00000319481.3	-	13	1299		c.e13+1			NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTCCTATTTACCTCTAATGAT	0.378000													68	89					5.00163e-47	9.67311e-47	0.870114	1	0
KIF21A	55605	broad.mit.edu	37	12	39735871	39735871	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:39735871C>A	ENST00000395670.3	-	13	2187	c.1768G>T	c.(1768-1770)Ggt>Tgt	p.G590C	KIF21A_ENST00000544797.2_Missense_Mutation_p.G577C|KIF21A_ENST00000541463.2_Missense_Mutation_p.G577C|KIF21A_ENST00000361961.3_Missense_Mutation_p.G577C|KIF21A_ENST00000361418.5_Missense_Mutation_p.G590C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	590					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G577C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCCGAAACACCCTTTTCTTCT	0.353000													14	12					5.3912e-06	6.05431e-06	0.539581	1	0
OR6V1	346517	broad.mit.edu	37	7	142750055	142750055	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:142750055C>T	ENST00000418316.1	+	1	639	c.618C>T	c.(616-618)ctC>ctT	p.L206L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCTTTGTCCTCAGCTCCTTCC	0.537000													98	278					0	0	0.870114	0	0
IL1F10	84639	broad.mit.edu	37	2	113832388	113832388	+	Silent	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:113832388A>G	ENST00000393197.2	+	3	628	c.207A>G	c.(205-207)gcA>gcG	p.A69A	IL1F10_ENST00000341010.2_Silent_p.A69A|IL1F10_ENST00000337569.3_Silent_p.A69A	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	69						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GCTGCCTGGCATGTGTGGAGA	0.607000													6	26					0	0	0.217242	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559312	129559312	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:129559312T>G	ENST00000422113.2	-	9	2734	c.2408A>C	c.(2407-2409)aAc>aCc	p.N803T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.N341T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	803						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTGTTGGGGTTAGCATCGTT	0.478000													17	144					0	0	0.624587	0	0
MYO10	4651	broad.mit.edu	37	5	16682002	16682002	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:16682002C>T	ENST00000513610.1	-	31	4621	c.4167G>A	c.(4165-4167)gaG>gaA	p.E1389E	MYO10_ENST00000505695.1_Silent_p.E728E|MYO10_ENST00000515803.1_Silent_p.E728E|MYO10_ENST00000274203.9_Silent_p.E746E|MYO10_ENST00000427430.2_Silent_p.E746E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1389					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATTCCTGGCCCTCCACTCTGG	0.572000													42	32					0	0	0.870114	0	0
PKD1L1	168507	broad.mit.edu	37	7	47933488	47933488	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:47933488C>A	ENST00000289672.2	-	15	2490	c.2440G>T	c.(2440-2442)Ggg>Tgg	p.G814W		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	814	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAGTCGCCCCAGGGTCGTCA	0.582000													12	15					9.31168e-06	1.03857e-05	0.435327	1	0
HOXA3	3200	broad.mit.edu	37	7	27147796	27147796	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:27147796G>T	ENST00000396352.4	-	3	1269	c.1070C>A	c.(1069-1071)aCc>aAc	p.T357N	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.T357N	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	357					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TATGTGTGGGGTCCCATAGCT	0.677000													8	21					0.00307968	0.00320032	0.278610	1	0
TTN	7273	broad.mit.edu	37	2	179588045	179588045	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179588045G>T	ENST00000589042.1	-	75	21913	c.21689C>A	c.(21688-21690)gCt>gAt	p.A7230D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A5986D|TTN_ENST00000591111.1_Missense_Mutation_p.A6913D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6913	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAAATGCAGCTGGTTCTAG	0.403000													4	59					1.6384e-10	2.08979e-10	0.248553	1	0
ITM2A	9452	broad.mit.edu	37	X	78616853	78616853	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:78616853G>A	ENST00000434584.2	-	4	880	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	ITM2A_ENST00000373298.2_Missense_Mutation_p.R226C|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	226	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CGACGAAGGCGGAAGGACTTT	0.428000													51	21					0	0	0.870114	0	0
NRROS	375387	broad.mit.edu	37	3	196388192	196388192	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:196388192C>T	ENST00000328557.4	+	3	1881	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CAGCCTGGCCCTGGAGACCCT	0.567000													40	64					0	0	0.859065	0	0
ITPR3	3710	broad.mit.edu	37	6	33638231	33638231	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:33638231G>T	ENST00000374316.5	+	20	3379	c.2319G>T	c.(2317-2319)ctG>ctT	p.L773L	ITPR3_ENST00000605930.1_Silent_p.L773L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	773					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCTTTGACCTGCGCGCCTCCT	0.622000													75	185					5.72486e-32	1.03385e-31	0.870114	1	0
SOX6	55553	broad.mit.edu	37	11	16119217	16119217	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:16119217G>T	ENST00000352083.6	-	8	993	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	SOX6_ENST00000396356.3_Missense_Mutation_p.Q306K|SOX6_ENST00000316399.6_Missense_Mutation_p.Q306K|SOX6_ENST00000528429.1_Missense_Mutation_p.Q306K|SOX6_ENST00000527619.1_Missense_Mutation_p.Q309K|SOX6_ENST00000528252.1_Missense_Mutation_p.Q306K			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	306					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GGAATGAACTGTACGGGGTAG	0.468000													22	35					3.28513e-13	4.46896e-13	0.667858	1	0
BRWD1	54014	broad.mit.edu	37	21	40571250	40571250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:40571250G>A	ENST00000342449.3	-	40	5170	c.5092C>T	c.(5092-5094)Caa>Taa	p.Q1698*	BRWD1_ENST00000333229.2_Nonsense_Mutation_p.Q1698*|BRWD1_ENST00000380800.3_Nonsense_Mutation_p.Q1698*	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGTAATAGTTGATTTTCATCT	0.393000													14	51					0	0	0.479597	0	0
MEPE	56955	broad.mit.edu	37	4	88766903	88766903	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:88766903C>T	ENST00000497649.2	+	6	1189	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.H295Y|MEPE_ENST00000395102.4_Missense_Mutation_p.H326Y|MEPE_ENST00000540395.1_Missense_Mutation_p.H182Y|MEPE_ENST00000361056.3_Missense_Mutation_p.H295Y|MEPE_ENST00000560249.1_Missense_Mutation_p.H182Y			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	295					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGAGAGTACTCATCTTGACAC	0.433000													10	26					0	0	0.435327	0	0
CD1B	910	broad.mit.edu	37	1	158299245	158299245	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:158299245C>A	ENST00000368168.3	-	4	908	c.801G>T	c.(799-801)ctG>ctT	p.L267L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	267	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTGCCACATCCAGGGTTGCTC	0.582000													20	156					1.22574e-08	1.46984e-08	0.624587	1	0
C8B	732	broad.mit.edu	37	1	57399075	57399075	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:57399075C>A	ENST00000543257.1	-	11	1895	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	C8B_ENST00000371237.4_Missense_Mutation_p.E495D|C8B_ENST00000535057.1_Missense_Mutation_p.E433D	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	495	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCTTCTGGAACTCCTCCAGTG	0.527000													29	34					2.46105e-21	3.94371e-21	0.750413	1	0
PXDNL	137902	broad.mit.edu	37	8	52232527	52232527	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:52232527G>T	ENST00000356297.4	-	23	4416	c.4316C>A	c.(4315-4317)cCt>cAt	p.P1439H	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1439	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCAATTCAGGACTGGGACA	0.507000													31	25					4.62619e-21	7.3771e-21	0.796494	1	0
FAM114A1	92689	broad.mit.edu	37	4	38945156	38945156	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:38945156G>T	ENST00000358869.2	+	15	1846	c.1670G>T	c.(1669-1671)aGt>aTt	p.S557I	FAM114A1_ENST00000515037.1_Missense_Mutation_p.S350I	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	557						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCAGACCAGTTGTTTGAAA	0.502000													44	74					6.18754e-15	8.87228e-15	0.870114	1	0
CDH12	1010	broad.mit.edu	37	5	21817074	21817074	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:21817074C>G	ENST00000382254.1	-	9	2068	c.982G>C	c.(982-984)Gga>Cga	p.G328R	CDH12_ENST00000522262.1_Missense_Mutation_p.G288R|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G328R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGATGACTCCCTCTTGTGTA	0.318000										HNSCC(59;0.17)			138	67					0	0	0.870114	0	0
GHRHR	2692	broad.mit.edu	37	7	31013668	31013668	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:31013668A>T	ENST00000409904.3	+	4	732	c.474A>T	c.(472-474)gcA>gcT	p.A158A	GHRHR_ENST00000326139.2_Silent_p.A222A|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	222					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GGCTGTTGGCAGAAGCCGTCT	0.627000													66	117					0	0	0.870114	0	0
FRMPD4	9758	broad.mit.edu	37	X	12157102	12157102	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:12157102C>T	ENST00000380682.1	+	1	518	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	4					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGATGTCTTCAGCTTTGTGA	0.632000													6	4					0	0	0.278610	0	0
ELOVL4	6785	broad.mit.edu	37	6	80631426	80631426	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:80631426G>T	ENST00000369816.4	-	4	757	c.457C>A	c.(457-459)Caa>Aaa	p.Q153K		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	153					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AAAGAAACTTGGTTGTTTTTC	0.398000													9	46					0.0477658	0.048357	0.307466	1	0
HIST1H3D	8351	broad.mit.edu	37	6	26197163	26197163	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:26197163C>G	ENST00000377831.5	-	2	769	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.E106Q	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.E106Q(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TTGGTGTCCTCAAACAGCCCC	0.592000													25	128					0	0	0.706142	0	0
SCN5A	6331	broad.mit.edu	37	3	38603953	38603953	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:38603953G>T	ENST00000413689.1	-	22	4109	c.3916C>A	c.(3916-3918)Cgt>Agt	p.R1306S	SCN5A_ENST00000455624.2_Missense_Mutation_p.R1305S|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1252S|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1252S|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1305S|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1252S|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1306S|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1305S|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1306S|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1306S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1306					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGAGTGCACGCAGCGTCCGC	0.627000													11	9					0.010729	0.0109693	0.387290	1	0
SORCS1	114815	broad.mit.edu	37	10	108338853	108338853	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:108338853G>T	ENST00000344440.6	-	26	3527	c.3528C>A	c.(3526-3528)ctC>ctA	p.L1176L	SORCS1_ENST00000263054.6_Intron|SORCS1_ENST00000369698.1_Silent_p.L711L	NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1	NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	0						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATTTACCTATGAGCTGGGATT	0.498000													17	21					3.41278e-10	4.30823e-10	0.520397	1	0
SRGAP2	23380	broad.mit.edu	37	1	206611421	206611421	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:206611421A>G	ENST00000414007.1	+	12	1321	c.1321A>G	c.(1321-1323)Atc>Gtc	p.I441V	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	581					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CCCCAAGGACATCTTTCATGA	0.537000													3	28					0	0	0.115264	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586645	15586645	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:15586645C>A	ENST00000292609.4	-	2	965	c.836G>T	c.(835-837)gGg>gTg	p.G279V	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G279V			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	279					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AAGGATGACCCCATCCAGGGC	0.622000													14	35					1.01871e-10	1.30787e-10	0.575678	1	0
PCNT	5116	broad.mit.edu	37	21	47831163	47831163	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:47831163G>A	ENST00000359568.5	+	28	5283	c.5176G>A	c.(5176-5178)Gag>Aag	p.E1726K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1726					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAATCTGCAAGAGAATCAGAA	0.418000													27	57					0	0	0.717897	0	0
CILP	8483	broad.mit.edu	37	15	65497680	65497680	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:65497680C>G	ENST00000261883.4	-	5	715	c.549G>C	c.(547-549)tcG>tcC	p.S183S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	183	TSP type-1.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACTGCACAGCGACACCATCT	0.627000													53	63					0	0	0.870114	0	0
WNT5B	81029	broad.mit.edu	37	12	1748912	1748912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:1748912C>T	ENST00000397196.2	+	4	623	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000310594.3_Missense_Mutation_p.R131W|WNT5B_ENST00000537031.1_Missense_Mutation_p.R131W	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	131					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CGCCATCAGCCGGGCCTGCCG	0.736000													6	13					0	0	0.248553	0	0
HOXB6	3216	broad.mit.edu	37	17	46675194	46675194	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:46675194C>A	ENST00000484302.2	-	2	941	c.319G>T	c.(319-321)Gac>Tac	p.D107Y	HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.D107Y|HOXB-AS3_ENST00000466037.2_RNA			P17509	HXB6_HUMAN	homeobox B6	107					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGCGCGCAGTCCGACTTCCGC	0.662000													7	20					5.4927e-09	6.63927e-09	0.307466	1	0
GLYATL2	219970	broad.mit.edu	37	11	58602171	58602171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:58602171C>A	ENST00000287275.1	-	6	1006	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	GLYATL2_ENST00000532258.1_Missense_Mutation_p.G206C	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	206						mitochondrion	glycine N-acyltransferase activity	p.G206C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CCCTCTGGACCCAGCACACCA	0.468000													20	58					6.44725e-10	8.05086e-10	0.624587	1	0
CLCA2	9635	broad.mit.edu	37	1	86905997	86905997	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:86905997C>A	ENST00000370565.4	+	8	1532	c.1370C>A	c.(1369-1371)tCa>tAa	p.S457*		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	457	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GAGGAATTATCACGTCTTACA	0.403000													23	37					6.38683e-12	8.44266e-12	0.729181	1	0
GLRA2	2742	broad.mit.edu	37	X	14592613	14592613	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:14592613G>T	ENST00000355020.4	+	3	488		c.e3-1		GLRA2_ENST00000218075.4_Intron|GLRA2_ENST00000443437.2_Intron	NM_001118886.1	NP_001112358.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2						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)	TCAACTTGCAGGGCCTCCTGT	0.423000													22	32					2.79863e-10	3.54433e-10	0.681144	1	0
FAM78A	286336	broad.mit.edu	37	9	134151420	134151420	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:134151420G>A	ENST00000372271.3	-	1	514	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	49										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TAGTGGGGACGGGGTCGATGG	0.617000													16	39					0	0	0.520397	0	0
OR2B11	127623	broad.mit.edu	37	1	247615142	247615142	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:247615142G>T	ENST00000318749.6	-	1	166	c.143C>A	c.(142-144)gCc>gAc	p.A48D		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGGATGATGGCGACGTTCCC	0.582000													20	88					4.26978e-12	5.64796e-12	0.654019	1	0
KMT2C	58508	broad.mit.edu	37	7	151945170	151945170	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:151945170G>A	ENST00000355193.2	-	14	2567	c.2349C>T	c.(2347-2349)tcC>tcT	p.S783S	KMT2C_ENST00000262189.6_Silent_p.S783S					lysine (K)-specific methyltransferase 2C									p.S783S(2)									GTGTTGGGGAGGAAGACACAT	0.423000													11	448					0	0	0.479597	0	0
ADCY4	196883	broad.mit.edu	37	14	24798267	24798267	+	Splice_Site	SNP	C	C	A	rs78654006	byFrequency	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:24798267C>A	ENST00000310677.4	-	11	1637	c.1524_splice	c.e11+1	p.P508_splice	ADCY4_ENST00000396747.3_Splice_Site_p.P201_splice|ADCY4_ENST00000418030.2_Splice_Site_p.P508_splice|ADCY4_ENST00000554068.2_Splice_Site_p.P508_splice	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	508					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTGCACATACCGGGAGAGGGG	0.627000													18	104					1.55469e-16	2.30678e-16	0.654019	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254151	39254151	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:39254151G>T	ENST00000333822.4	-	1	242	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	62	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GACAGCAGGTGGGCTGGCAGC	0.657000													6	137					2.4624e-09	3.02105e-09	0.575678	1	0
COL11A2	1302	broad.mit.edu	37	6	33132108	33132108	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:33132108G>T	ENST00000341947.2	-	65	5233	c.5006C>A	c.(5005-5007)gCc>gAc	p.A1669D	COL11A2_ENST00000361917.1_Missense_Mutation_p.A1562D|COL11A2_ENST00000374708.4_Missense_Mutation_p.A1583D|COL11A2_ENST00000395197.1_Missense_Mutation_p.A1609D|COL11A2_ENST00000357486.1_Missense_Mutation_p.A1648D|COL11A2_ENST00000374713.1_Missense_Mutation_p.A1622D|COL11A2_ENST00000374714.1_Missense_Mutation_p.A1643D|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.A1588D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1669	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCCTCATTGGCCCCACGGAG	0.622000													30	40					8.73648e-17	1.30021e-16	0.796494	1	0
OPCML	4978	broad.mit.edu	37	11	132812881	132812881	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:132812881G>T	ENST00000331898.7	-	1	685	c.107C>A	c.(106-108)gCc>gAc	p.A36D	OPCML_ENST00000541867.1_Missense_Mutation_p.A36D|OPCML_ENST00000374778.4_5'UTR|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000524381.1_Missense_Mutation_p.A29D	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	36					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGGGAAGGTGGCATCTCCGCT	0.657000													25	54					1.57351e-24	2.64906e-24	0.788014	1	0
OLFM3	118427	broad.mit.edu	37	1	102270155	102270155	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:102270155A>G	ENST00000370103.4	-	6	1229	c.1016T>C	c.(1015-1017)gTg>gCg	p.V339A	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.V359A|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	359	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGTTGCATACACAGCCCACAG	0.483000													11	61					0	0	0.387290	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113601675	113601675	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:113601675A>G	ENST00000358160.4	+	6	1028	c.536A>G	c.(535-537)gAt>gGt	p.D179G	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	179						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTATTATTAGATAAGGTAAGT	0.338000													39	56					0	0	0.870114	0	0
FOCAD	54914	broad.mit.edu	37	9	20866998	20866998	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:20866998A>G	ENST00000380249.1	+	20	2541	c.2177A>G	c.(2176-2178)cAt>cGt	p.H726R	FOCAD_ENST00000338382.6_Missense_Mutation_p.H726R|FOCAD_ENST00000605086.1_Missense_Mutation_p.H162R	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	726						integral to membrane	binding										ACCATTCTTCATCTGCCTGAA	0.373000													17	121					0	0	0.557998	0	0
RTTN	25914	broad.mit.edu	37	18	67802464	67802464	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:67802464T>C	ENST00000255674.6	-	22	3127	c.2841A>G	c.(2839-2841)ctA>ctG	p.L947L	RTTN_ENST00000437017.1_Silent_p.L947L|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	947							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAAGACAAAATAGTGCTCCAA	0.294000													32	26					0	0	0.859065	0	0
DNM3	26052	broad.mit.edu	37	1	172348233	172348233	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:172348233C>T	ENST00000358155.4	+	18	2145	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	DNM3_ENST00000367731.1_Missense_Mutation_p.R653C|DNM3_ENST00000355305.5_Missense_Mutation_p.R663C	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	663					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGAGACCATTCGCAACCTCGT	0.383000													7	19					0	0	0.278610	0	0
PDGFRB	5159	broad.mit.edu	37	5	149502662	149502662	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:149502662C>A	ENST00000261799.4	-	15	2595	c.2126G>T	c.(2125-2127)cGc>cTc	p.R709L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	709	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGGGCGGGCGGCGCTTGTC	0.612000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								68	41					1.07363e-35	1.98263e-35	0.870114	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68252722	68252722	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:68252722C>G	ENST00000347230.4	-	18	3295	c.3157G>C	c.(3157-3159)Gga>Cga	p.G1053R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G1053R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1053					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGGCCTCCTCCCTTTTCTTCC	0.498000													30	39					0	0	0.740014	0	0
ZNF827	152485	broad.mit.edu	37	4	146807096	146807096	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:146807096C>A	ENST00000508784.1	-	4	1708	c.1481G>T	c.(1480-1482)gGg>gTg	p.G494V	ZNF827_ENST00000513320.1_Missense_Mutation_p.G144V|ZNF827_ENST00000379448.4_Missense_Mutation_p.G494V			Q17R98	ZN827_HUMAN	zinc finger protein 827	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TAGCTCTGTCCCTCCTCCTTC	0.592000													20	91					2.24059e-21	3.59337e-21	0.706142	1	0
LY6G6D	58530	broad.mit.edu	37	6	31677949	31677949	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:31677949C>A	ENST00000503322.1	+	4	796	c.793C>A	c.(793-795)Cca>Aca	p.P265T	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Missense_Mutation_p.P265T|LY6G6F_ENST00000556581.1_Missense_Mutation_p.P265T																							CCGTGGGGCTCCAGGCAGAGG	0.637000													14	73					3.32936e-07	3.85805e-07	0.539581	1	0
KCNG1	3755	broad.mit.edu	37	20	49626312	49626312	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:49626312C>T	ENST00000371571.4	-	2	849	c.564G>A	c.(562-564)gcG>gcA	p.A188A	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.A188A	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	188						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCTGTCCAGCGCGTCGTCCT	0.711000													8	36					0	0	0.361761	0	0
BTN2A2	10385	broad.mit.edu	37	6	26385531	26385531	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:26385531G>T	ENST00000356709.4	+	3	494	c.383G>T	c.(382-384)cGc>cTc	p.R128L	BTN2A2_ENST00000469230.1_Missense_Mutation_p.R128L|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R128L|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R128L|BTN2A2_ENST00000352867.2_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	128	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GGGATCTACCGCTGTTACTTC	0.517000													16	78					2.35188e-11	3.084e-11	0.539581	1	0
HTR1E	3354	broad.mit.edu	37	6	87725312	87725312	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:87725312G>C	ENST00000305344.4	+	2	963	c.260G>C	c.(259-261)cGc>cCc	p.R87P	HTR1E_ENST00000369584.1_Missense_Mutation_p.R87P	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	87					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R87H(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTCATGGATCGCTGGAAGCTT	0.572000													71	72					0	0	0.870114	0	0
C11orf40	143501	broad.mit.edu	37	11	4594592	4594592	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:4594592C>A	ENST00000307616.1	-	2	251	c.252G>T	c.(250-252)atG>atT	p.M84I		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	84										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGTTATCACCCATCACCACAC	0.448000													34	33					1.60099e-16	2.37187e-16	0.804634	1	0
TSLP	85480	broad.mit.edu	37	5	110407676	110407676	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:110407676G>C	ENST00000420978.2	+	2	1510	c.88G>C	c.(88-90)Gac>Cac	p.D30H	TSLP_ENST00000344895.3_Missense_Mutation_p.D30H			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	30						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTTAACTTACGACTTCACTAA	0.383000													49	41					0	0	0.870114	0	0
ZFP64	55734	broad.mit.edu	37	20	50769916	50769916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:50769916G>T	ENST00000216923.4	-	6	1164	c.815C>A	c.(814-816)tCg>tAg	p.S272*	ZFP64_ENST00000371515.4_Nonsense_Mutation_p.S270*|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Nonsense_Mutation_p.S218*|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTCAAGTCCGAGCTGATTTT	0.552000													21	38					1.42536e-11	1.87406e-11	0.681144	1	0
IRX1	79192	broad.mit.edu	37	5	3599371	3599371	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:3599371G>A	ENST00000302006.3	+	2	361	c.309G>A	c.(307-309)ggG>ggA	p.G103G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACAACCCTGGGGTGCACCCCG	0.637000													10	48					0	0	0.435327	0	0
MFRP	83552	broad.mit.edu	37	11	119216289	119216289	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:119216289G>T	ENST00000555262.1	-	5	641	c.482C>A	c.(481-483)cCa>cAa	p.P161Q	MFRP_ENST00000360167.4_Missense_Mutation_p.P161Q|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.P161Q|MFRP_ENST00000530681.1_Missense_Mutation_p.P161Q	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GTAAGGGTCTGGGTAGTTAGG	0.567000													18	46					5.35267e-07	6.17712e-07	0.557998	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801901	185801901	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:185801901G>A	ENST00000302277.6	+	4	2372	c.1778G>A	c.(1777-1779)aGt>aAt	p.S593N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	593						intracellular	zinc ion binding	p.S593fs*29(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTCCATAAAAGTAGAAGAAAG	0.308000													14	22					0	0	0.539581	0	0
CACNB2	783	broad.mit.edu	37	10	18828186	18828186	+	Missense_Mutation	SNP	C	C	T	rs111250176		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:18828186C>T	ENST00000396576.2	+	13	1852	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	CACNB2_ENST00000377315.4_Missense_Mutation_p.R458C|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.R482C|CACNB2_ENST00000377328.1_Missense_Mutation_p.R256C|CACNB2_ENST00000282343.8_Missense_Mutation_p.R478C|CACNB2_ENST00000377331.2_Missense_Mutation_p.R454C|CACNB2_ENST00000377329.4_Missense_Mutation_p.R452C|CACNB2_ENST00000377319.3_Missense_Mutation_p.R413C|CACNB2_ENST00000324631.7_Missense_Mutation_p.R506C	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	506					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAGGACTGATCGCTCCGCTCC	0.537000													19	70					0	0	0.624587	0	0
MYO3B	140469	broad.mit.edu	37	2	171092630	171092630	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:171092630C>G	ENST00000334231.6	+	7	760	c.760C>G	c.(760-762)Ctc>Gtc	p.L254V	MYO3B_ENST00000409044.3_Missense_Mutation_p.L245V|MYO3B_ENST00000408978.4_Missense_Mutation_p.L245V|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	245	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTGAAAACACTCTTTAAGAT	0.458000											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	83					0	0	0.624587	0	0
MAGI2	9863	broad.mit.edu	37	7	79082588	79082588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:79082588C>A	ENST00000354212.4	-	1	302	c.49G>T	c.(49-51)Gag>Tag	p.E17*	MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000419488.1_Nonsense_Mutation_p.E17*|MAGI2_ENST00000522391.1_Nonsense_Mutation_p.E17*|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	17	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGACACTCTCATGGACTTTG	0.597000													70	172					4.47563e-24	7.47717e-24	0.870114	1	0
AGPAT4	56895	broad.mit.edu	37	6	161587281	161587281	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:161587281C>A	ENST00000366905.3	-	3	530	c.347G>T	c.(346-348)gGg>gTg	p.G116V	AGPAT4_ENST00000366906.5_Splice_Site_p.G54_splice|AGPAT4_ENST00000366908.5_Splice_Site_p.G116_splice|AGPAT4_ENST00000320285.4_Splice_Site_p.G116_splice|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Intron			Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	116					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CTGACTTACCCCTAACAGCCC	0.488000													11	9					2.27111e-07	2.64111e-07	0.411799	1	0
G2E3	55632	broad.mit.edu	37	14	31081465	31081465	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:31081465A>G	ENST00000206595.6	+	13	1707	c.1553A>G	c.(1552-1554)tAt>tGt	p.Y518C	G2E3_ENST00000438909.2_Missense_Mutation_p.Y472C|G2E3_ENST00000553504.1_Missense_Mutation_p.Y548C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	518	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AATGAATGCTATAACTACCTT	0.308000													67	104					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9087343	9087343	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9087343G>T	ENST00000397910.4	-	1	4675	c.4472C>A	c.(4471-4473)cCt>cAt	p.P1491H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1491	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGGACATAGGTGGAAAAAT	0.428000													37	122					2.9001e-28	5.08295e-28	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179444913	179444913	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179444913G>A	ENST00000589042.1	-	318	67325	c.67101C>T	c.(67099-67101)tcC>tcT	p.S22367S	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.S13427S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.S13302S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.S13494S|TTN_ENST00000342992.6_Silent_p.S19799S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.S20726S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20726	Fibronectin type-III 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAGTCTTTGGATATTTCCT	0.388000													11	19					0	0	0.411799	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692999	26692999	+	Missense_Mutation	SNP	G	G	T	rs148526431		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:26692999G>T	ENST00000529632.2	+	4	1311	c.1115G>T	c.(1114-1116)cGg>cTg	p.R372L	SEZ6L_ENST00000402979.1_Missense_Mutation_p.R145L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R372L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R372L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R372L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R372L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R145L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	372	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTCTACTTCCGGACCTTCCAG	0.607000													17	35					8.10497e-08	9.53841e-08	0.592651	1	0
GABRA3	2556	broad.mit.edu	37	X	151366109	151366109	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:151366109G>C	ENST00000370314.4	-	8	1165	c.927C>G	c.(925-927)gtC>gtG	p.V309V	GABRA3_ENST00000370311.1_Silent_p.V309V|GABRA3_ENST00000535043.1_Silent_p.V309V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	309					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTCACCAAAGACTGTACGGG	0.478000													32	17					0	0	0.804634	0	0
PIK3R5	23533	broad.mit.edu	37	17	8793405	8793405	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:8793405C>A	ENST00000447110.1	-	8	820	c.696G>T	c.(694-696)gaG>gaT	p.E232D	PIK3R5_ENST00000581552.1_Missense_Mutation_p.E232D|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E232D	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	232				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCTCTGCGGTCTCCGTGAAGA	0.627000													43	25					4.33383e-22	7.04831e-22	0.870114	1	0
ANKEF1	63926	broad.mit.edu	37	20	10030080	10030080	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:10030080G>T	ENST00000378380.3	+	6	1192	c.863G>T	c.(862-864)aGg>aTg	p.R288M	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R288M	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		AAAACGCCCAGGGCTGTGGCT	0.438000													18	89					3.51602e-12	4.66978e-12	0.575678	1	0
SRP54	6729	broad.mit.edu	37	14	35470161	35470161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:35470161G>T	ENST00000556994.1	+	5	587	c.190G>T	c.(190-192)Gag>Tag	p.E64*	SRP54_ENST00000555557.1_5'UTR|SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000216774.6_Nonsense_Mutation_p.E64*|SRP54_ENST00000546080.1_Nonsense_Mutation_p.E15*			P61011	SRP54_HUMAN	signal recognition particle 54kDa	64	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		TGATCTTGAAGAGATGGCATC	0.363000													18	20					4.87955e-14	6.80296e-14	0.693898	1	0
RSBN1	54665	broad.mit.edu	37	1	114354919	114354919	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:114354919C>G	ENST00000261441.5	-	1	179	c.116G>C	c.(115-117)gGg>gCg	p.G39A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	39				GP -> SG (in Ref. 3; AAH26155).		nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTAAATGGCCCGACCGCCCC	0.687000													23	60					0	0	0.693898	0	0
ATP7A	538	broad.mit.edu	37	X	77301868	77301868	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:77301868G>A	ENST00000341514.6	+	23	4459	c.4304G>A	c.(4303-4305)aGc>aAc	p.S1435N	ATP7A_ENST00000350425.4_Missense_Mutation_p.S438N|ATP7A_ENST00000343533.5_Missense_Mutation_p.S1357N	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1435					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TCAGAAATCAGCGTTCATGTT	0.433000													119	66					0	0	0.870114	0	0
ADAM33	80332	broad.mit.edu	37	20	3653227	3653227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:3653227G>T	ENST00000356518.2	-	13	1599	c.1358C>A	c.(1357-1359)cCg>cAg	p.P453Q	ADAM33_ENST00000379861.4_Missense_Mutation_p.P453Q|ADAM33_ENST00000350009.2_Missense_Mutation_p.P453Q|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	453	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CTGGGCCCCCGGGCGCAGCGA	0.687000													18	34					1.96895e-08	2.34814e-08	0.639603	1	0
AACSP1	729522	broad.mit.edu	37	5	178194197	178194197	+	RNA	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:178194197A>T	ENST00000503486.2	-	0	1440					NR_024035.1																						AGCCAGTCCGACTCAGAAGCC	0.592000													4	11					0	0	0.150653	0	0
LRP1B	53353	broad.mit.edu	37	2	141243076	141243076	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:141243076C>T	ENST00000389484.3	-	59	10232	c.9261G>A	c.(9259-9261)gcG>gcA	p.A3087A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3087					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A3087A(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTGGGGACCGCTGTGTTAT	0.368000										TSP Lung(27;0.18)			15	16					0	0	0.479597	0	0
DOCK4	9732	broad.mit.edu	37	7	111580204	111580204	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:111580204G>C	ENST00000428084.1	-	11	1210	c.938C>G	c.(937-939)aCa>aGa	p.T313R	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.T313R			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	313					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTCTCTCCTGTTAGCAGGTC	0.493000													57	73					0	0	0.870114	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359360	64359360	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:64359360C>A	ENST00000377574.1	+	1	1079	c.332C>A	c.(331-333)gCc>gAc	p.A111D	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Missense_Mutation_p.A111D|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A111D|SLC22A12_ENST00000377572.1_Missense_Mutation_p.A111D	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	111					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGGAGCGAGGCCGACACGGAG	0.682000													21	36					9.95505e-16	1.44647e-15	0.624587	1	0
PLOD2	5352	broad.mit.edu	37	3	145841974	145841974	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:145841974C>T	ENST00000282903.5	-	2	329	c.152G>A	c.(151-153)gGa>gAa	p.G51E	PLOD2_ENST00000494950.1_5'UTR|PLOD2_ENST00000360060.3_Missense_Mutation_p.G51E	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	51					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCGATGGAATCCATCACTTTC	0.318000													30	59					0	0	0.812448	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45198019	45198019	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:45198019G>A	ENST00000352766.7	+	9	904	c.904G>A	c.(904-906)Gag>Aag	p.E302K	PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.E179K|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.E48K|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.E170K|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.E48K|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.E302K|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.E48K														p.E84K(1)|p.E48K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						ACCCTCCCACGAGCTGGACCA	0.602000													32	80					0	0	0.796494	0	0
CSMD3	114788	broad.mit.edu	37	8	113318349	113318349	+	Missense_Mutation	SNP	C	C	G	rs143305992		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:113318349C>G	ENST00000297405.5	-	51	8202	c.7958G>C	c.(7957-7959)cGa>cCa	p.R2653P	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2613P|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2583P|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2549P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2653	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGGTAACTCGCGTTCCTAC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	121					0	0	0.592651	0	0
CPN2	1370	broad.mit.edu	37	3	194063172	194063172	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:194063172T>A	ENST00000323830.3	-	2	349	c.260A>T	c.(259-261)cAg>cTg	p.Q87L	CPN2_ENST00000429275.1_Missense_Mutation_p.Q87L	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	87					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CGGCCTAAACTGGCAGAGCTG	0.547000													42	63					0	0	0.870114	0	0
CHIC2	26511	broad.mit.edu	37	4	54880043	54880043	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:54880043C>A	ENST00000263921.3	-	5	797	c.408G>T	c.(406-408)ctG>ctT	p.L136L	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Silent_p.L117L	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	136						plasma membrane	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TCCTTTTGCTCAGTCTCCAAT	0.348000			T	ETV6	AML								12	65					1.61879e-10	2.06612e-10	0.411799	1	0
RRP9	9136	broad.mit.edu	37	3	51971706	51971706	+	Silent	SNP	C	C	A	rs138383214		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:51971706C>A	ENST00000232888.6	-	4	400	c.327G>T	c.(325-327)gcG>gcT	p.A109A		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	109					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TCAGGCGCCCCGCCACCTGGT	0.597000													117	83					6.69235e-45	1.28543e-44	0.870114	1	0
PARP9	83666	broad.mit.edu	37	3	122269540	122269540	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:122269540G>C	ENST00000462315.1	-	6	1510	c.1217C>G	c.(1216-1218)aCa>aGa	p.T406R	PARP9_ENST00000471785.1_Missense_Mutation_p.T406R|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Missense_Mutation_p.T441R|PARP9_ENST00000477522.2_Missense_Mutation_p.T406R	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	441	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTCTGCTGCTGTTTCCTTCTT	0.363000													9	44					0	0	0.335167	0	0
ERI3	79033	broad.mit.edu	37	1	44804790	44804790	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:44804790G>A	ENST00000372257.2	-	3	597	c.416C>T	c.(415-417)cCt>cTt	p.P139L	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	139						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTCTGGGGAGGGAAGGACAC	0.517000													41	175					0	0	0.840704	0	0
CCDC134	79879	broad.mit.edu	37	22	42209753	42209753	+	Splice_Site	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:42209753A>T	ENST00000255784.5	+	6	596		c.e6-1		CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134							extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CTTCATCTGCAGATGGCCCAG	0.537000													14	45					0	0	0.520397	0	0
ALK	238	broad.mit.edu	37	2	29451788	29451788	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:29451788C>T	ENST00000389048.3	-	16	3683	c.2777G>A	c.(2776-2778)gGg>gAg	p.G926E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	926	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGAGCACCCCCCTCCACCCCC	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				34	53					0	0	0.840704	0	0
PRKCG	5582	broad.mit.edu	37	19	54403552	54403552	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:54403552G>C	ENST00000263431.3	+	12	1629	c.1347G>C	c.(1345-1347)ctG>ctC	p.L449L	PRKCG_ENST00000540413.1_Silent_p.L449L|PRKCG_ENST00000542049.1_Silent_p.L336L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	449	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTCAACAGCTGGGCAAGTTTA	0.587000													14	47					0	0	0.479597	0	0
MROH7	374977	broad.mit.edu	37	1	55166824	55166824	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:55166824G>A	ENST00000414150.2	+	19	3392	c.3114G>A	c.(3112-3114)aaG>aaA	p.K1038K	MROH7_ENST00000454855.2_Silent_p.K556K|MROH7_ENST00000409996.1_Silent_p.K606K|MROH7_ENST00000421030.2_Silent_p.K1038K					maestro heat-like repeat family member 7																		AGACCGCCAAGGTGAAGGCCC	0.567000													7	50					0	0	0.335167	0	0
SOGA2	23255	broad.mit.edu	37	18	8796376	8796376	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:8796376C>T	ENST00000359865.3	+	9	2299	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	SOGA2_ENST00000518815.1_Silent_p.F34F|SOGA2_ENST00000517570.1_Silent_p.F678F|SOGA2_ENST00000306329.11_Silent_p.F1038F|SOGA2_ENST00000306285.7_Silent_p.F34F|SOGA2_ENST00000400050.3_Silent_p.F678F	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1029																	AGAACATTTTCCTCTTCTACG	0.527000													29	71					0	0	0.779181	0	0
EPHX1	2052	broad.mit.edu	37	1	226026966	226026966	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:226026966G>A	ENST00000366837.4	+	5	837	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	EPHX1_ENST00000272167.5_Missense_Mutation_p.R214Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	214					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTGATGCTGCGGCTGGGCTTC	0.577000													19	63					0	0	0.608945	0	0
MUC17	140453	broad.mit.edu	37	7	100699541	100699541	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:100699541C>A	ENST00000306151.4	+	12	13494	c.13430C>A	c.(13429-13431)cCt>cAt	p.P4477H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4477						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACATAGACCCTGAAACAAAG	0.493000													15	56					1.15088e-07	1.34555e-07	0.500413	1	0
CERK	64781	broad.mit.edu	37	22	47116862	47116862	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:47116862C>G	ENST00000216264.8	-	2	305	c.193G>C	c.(193-195)Gtt>Ctt	p.V65L	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	65	Required for binding to sulfatide and phosphoinositides.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCCCGTGAACGTCTGTTTCC	0.443000													37	99					0	0	0.870114	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847582	88847582	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:88847582T>A	ENST00000333190.4	+	2	831	c.222T>A	c.(220-222)atT>atA	p.I74I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	74						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACAATCATATTAATTCTTATG	0.383000										HNSCC(36;0.09)			35	73					0	0	0.870114	0	0
OR5D18	219438	broad.mit.edu	37	11	55587491	55587491	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55587491A>G	ENST00000333976.4	+	1	406	c.386A>G	c.(385-387)aAc>aGc	p.N129S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCATTTGCAACCCTCTGCTC	0.478000													64	187					0	0	0.870114	0	0
CRISP1	167	broad.mit.edu	37	6	49819743	49819743	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:49819743C>T	ENST00000335847.4	-	3	267	c.166G>A	c.(166-168)Gtt>Att	p.V56I	CRISP1_ENST00000355791.2_Missense_Mutation_p.V56I|CRISP1_ENST00000329411.5_Missense_Mutation_p.V56I|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56I|CRISP1_ENST00000536021.1_Missense_Mutation_p.V56I|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56I	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	56					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GCTGGTGGAACTACTCTTCTC	0.383000													30	92					0	0	0.740014	0	0
MME	4311	broad.mit.edu	37	3	154834707	154834707	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:154834707G>T	ENST00000460393.1	+	7	706	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	MME_ENST00000493237.1_Missense_Mutation_p.G196W|MME_ENST00000492661.1_Missense_Mutation_p.G196W|MME_ENST00000462745.1_Missense_Mutation_p.G196W|MME_ENST00000360490.2_Missense_Mutation_p.G196W	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	196					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTCTAAATATGGGAAAAAAGT	0.299000													19	44					2.89027e-11	3.76733e-11	0.624587	1	0
SPTBN1	6711	broad.mit.edu	37	2	54880793	54880793	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:54880793G>T	ENST00000333896.5	+	26	5971	c.5586G>T	c.(5584-5586)gcG>gcT	p.A1862A	SPTBN1_ENST00000356805.4_Silent_p.A1875A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1875	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGGCCTATGCGGGTGACAAGG	0.662000													17	22					9.16793e-09	1.10004e-08	0.520397	1	0
C5orf58	133874	broad.mit.edu	37	5	169672974	169672974	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:169672974C>A	ENST00000521850.1	+	3	1855	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.Q56K			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	56										large_intestine(1)|lung(4)|urinary_tract(1)	6						AGAGCTCTCCCAGTTATTGCT	0.348000													41	51					4.16331e-43	7.94226e-43	0.870114	1	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143625	61143625	+	RNA	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:61143625G>A	ENST00000475015.1	-	0	713				C20orf166-AS1_ENST00000412495.1_RNA																							ACACTCAGCGGTGGCCCAGGG	0.662000													10	48					0	0	0.435327	0	0
PRKG2	5593	broad.mit.edu	37	4	82031766	82031766	+	Splice_Site	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:82031766C>T	ENST00000395578.1	-	15	1893		c.e15-1		PRKG2_ENST00000264399.1_Splice_Site|PRKG2_ENST00000418486.2_Splice_Site|PRKG2_ENST00000545647.1_Splice_Site|PRKG2_ENST00000509169.1_Splice_Site			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II						platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CAAAGTCAACCTGGTAAAGAA	0.428000													6	53					0	0	0.248553	0	0
SYNE1	23345	broad.mit.edu	37	6	152712596	152712596	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:152712596T>C	ENST00000367255.5	-	52	8421	c.7820A>G	c.(7819-7821)aAc>aGc	p.N2607S	SYNE1_ENST00000448038.1_Missense_Mutation_p.N2614S|SYNE1_ENST00000423061.1_Missense_Mutation_p.N2614S|SYNE1_ENST00000265368.4_Missense_Mutation_p.N2607S|SYNE1_ENST00000341594.5_Missense_Mutation_p.N2646S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2607					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTAAGTAGGTTCTGGTGGCT	0.577000										HNSCC(10;0.0054)			17	26					0	0	0.557998	0	0
HOXC12	3228	broad.mit.edu	37	12	54350232	54350232	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:54350232G>A	ENST00000243103.3	+	2	827	c.731G>A	c.(730-732)cGg>cAg	p.R244Q		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	244					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CGCCAGCGCCGGAGGGAACTC	0.522000													101	68					0	0	0.870114	0	0
PAPL	390928	broad.mit.edu	37	19	39590977	39590977	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:39590977C>G	ENST00000331256.5	+	5	890	c.616C>G	c.(616-618)Cat>Gat	p.H206D	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		206						extracellular region	acid phosphatase activity|metal ion binding										CCCTGGGAATCATGAAGAACG	0.557000													41	123					0	0	0.870114	0	0
HABP2	3026	broad.mit.edu	37	10	115338513	115338513	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:115338513G>T	ENST00000351270.3	+	7	792	c.696G>T	c.(694-696)atG>atT	p.M232I	HABP2_ENST00000537906.1_3'UTR|HABP2_ENST00000542051.1_Missense_Mutation_p.M206I|HABP2_ENST00000541666.1_Missense_Mutation_p.M232I	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	232	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		ACATGTTTATGGAGGATGCTG	0.418000													40	43					1.57019e-19	2.43467e-19	0.834066	1	0
SCUBE1	80274	broad.mit.edu	37	22	43617262	43617262	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:43617262C>T	ENST00000360835.3	-	13	1592	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	489					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATCTTGAAGCGGGCCTTCTG	0.662000													11	44					0	0	0.479597	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924844	109924844	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:109924844C>T	ENST00000218054.4	-	10	1212	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	CHRDL1_ENST00000444321.2_Missense_Mutation_p.G340D|CHRDL1_ENST00000394797.4_Missense_Mutation_p.G339D|CHRDL1_ENST00000372042.1_Missense_Mutation_p.G341D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.G261D|CHRDL1_ENST00000372045.1_Missense_Mutation_p.G333D|CHRDL1_ENST00000434224.1_Missense_Mutation_p.G260D	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	333					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GCAGAAGTAGCCTTTATTGTC	0.433000													48	29					0	0	0.870114	0	0
MAP2K6	5608	broad.mit.edu	37	17	67522851	67522851	+	Splice_Site	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:67522851G>A	ENST00000590474.1	+	10	1168		c.e10+1		MAP2K6_ENST00000589647.1_Splice_Site	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6						activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCTCACAGTGGTAAGACAGCC	0.468000													4	36					0	0	0.184627	0	0
NRCAM	4897	broad.mit.edu	37	7	107807498	107807498	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:107807498C>T	ENST00000379028.3	-	30	3804	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K	NRCAM_ENST00000379022.4_Missense_Mutation_p.E1112K|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.E1112K|NRCAM_ENST00000351718.4_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1112	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTTACAATTTCTTTTCTCCAT	0.383000													10	20					0	0	0.435327	0	0
RBM38	55544	broad.mit.edu	37	20	55982704	55982704	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:55982704G>T	ENST00000356208.5	+	4	697	c.522G>T	c.(520-522)ccG>ccT	p.P174P	RBM38_ENST00000371219.2_Silent_p.P93P|RBM38_ENST00000440234.2_3'UTR	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	174					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			AGTACACGCCGGCCAGCCCGG	0.677000													32	38					1.07637e-12	1.4472e-12	0.804634	1	0
TTN	7273	broad.mit.edu	37	2	179500856	179500856	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179500856C>A	ENST00000589042.1	-	226	41666	c.41442G>T	c.(41440-41442)aaG>aaT	p.K13814N	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K4874N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K4749N|TTN_ENST00000342175.6_Missense_Mutation_p.K4941N|TTN_ENST00000342992.6_Missense_Mutation_p.K11246N|TTN_ENST00000591111.1_Missense_Mutation_p.K12173N|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12173	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGCCATCCTTCCTCCAGA	0.502000													13	29					3.27435e-08	3.88372e-08	0.457914	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73186498	73186498	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:73186498G>C	ENST00000286657.4	-	7	1071	c.1035C>G	c.(1033-1035)aaC>aaG	p.N345K		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	345	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTCAGAGTGGTTGAGATCAG	0.443000													34	75					0	0	0.796494	0	0
DHDDS	79947	broad.mit.edu	37	1	26795511	26795511	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:26795511A>T	ENST00000360009.2	+	9	971	c.894A>T	c.(892-894)acA>acT	p.T298T	DHDDS_ENST00000236342.7_Silent_p.T297T|DHDDS_ENST00000525682.2_Silent_p.T263T|DHDDS_ENST00000526219.1_Silent_p.T258T	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	297							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCCGAAGGACACGCTTGCACA	0.642000													16	41					0	0	0.575678	0	0
RBM27	54439	broad.mit.edu	37	5	145609462	145609462	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:145609462A>G	ENST00000265271.5	+	5	744	c.578A>G	c.(577-579)aAt>aGt	p.N193S	RBM27_ENST00000506502.1_Missense_Mutation_p.N193S	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	193	Arg-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGATCCAAATAGGAATGTT	0.473000													52	38					0	0	0.870114	0	0
PRSS58	136541	broad.mit.edu	37	7	141955444	141955444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:141955444G>T	ENST00000552471.1	-	2	409	c.90C>A	c.(88-90)taC>taA	p.Y30*	PRSS58_ENST00000547058.2_Nonsense_Mutation_p.Y30*			Q8IYP2	PRS58_HUMAN	protease, serine, 58	30	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AATAGACCAAGTAAGGGGGAG	0.463000													48	95					2.13883e-14	3.01185e-14	0.870114	1	0
NMUR2	56923	broad.mit.edu	37	5	151784061	151784061	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:151784061G>T	ENST00000255262.3	-	1	779	c.614C>A	c.(613-615)aCg>aAg	p.T205K	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	205					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.T205M(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTTGATGACCGTACAGGTGGC	0.542000													115	85					7.96373e-59	1.57272e-58	0.870114	1	0
RIMS2	9699	broad.mit.edu	37	8	104897753	104897753	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:104897753T>C	ENST00000507740.1	+	2	586	c.350T>C	c.(349-351)gTa>gCa	p.V117A	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.V117A|RIMS2_ENST00000436393.2_Missense_Mutation_p.V87A|RIMS2_ENST00000406091.3_Missense_Mutation_p.V309A	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	340	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.V345E(1)|p.V87E(1)|p.V117E(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAATATATTGTAGATGATGAG	0.423000										HNSCC(12;0.0054)			12	74					0	0	0.435327	0	0
SYT9	143425	broad.mit.edu	37	11	7335023	7335023	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:7335023G>A	ENST00000318881.6	+	3	1132	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	SYT9_ENST00000396716.2_Missense_Mutation_p.E267K	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	299	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAATGACCTTGAAGCACGGAA	0.453000													79	103					0	0	0.870114	0	0
KCNC2	3747	broad.mit.edu	37	12	75601274	75601274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:75601274C>A	ENST00000549446.1	-	2	1170	c.490G>T	c.(490-492)Gag>Tag	p.E164*	KCNC2_ENST00000350228.2_Nonsense_Mutation_p.E164*|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.E164*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.E164*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.E164*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.E164*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.E164*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.E164*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	164					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TCCAGCGCCTCCTCGGCGTCG	0.711000													21	12					1.64293e-13	2.25688e-13	0.654019	1	0
NEU4	129807	broad.mit.edu	37	2	242757738	242757738	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:242757738C>T	ENST00000391969.2	+	5	1530	c.819C>T	c.(817-819)gcC>gcT	p.A273A	NEU4_ENST00000404257.1_Silent_p.A285A|NEU4_ENST00000405370.1_Silent_p.A273A|NEU4_ENST00000407683.1_Silent_p.A273A|NEU4_ENST00000325935.6_Silent_p.A286A	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	273						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCGAGACTGCCTGGGGCTGCC	0.716000													7	11					0	0	0.361761	0	0
OGN	4969	broad.mit.edu	37	9	95163390	95163390	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:95163390G>T	ENST00000262551.4	-	3	672	c.252C>A	c.(250-252)ccC>ccA	p.P84P	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Silent_p.P84P	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	84						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TTTCTTTCTTGGGAGGTAATG	0.284000													22	32					1.13719e-10	1.45902e-10	0.729181	1	0
FAM21C	253725	broad.mit.edu	37	10	46245583	46245583	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:46245583G>T	ENST00000336378.4	+	9	890	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	FAM21C_ENST00000537517.1_Missense_Mutation_p.G258C|FAM21C_ENST00000540872.1_Missense_Mutation_p.G258C|FAM21C_ENST00000374362.2_Missense_Mutation_p.G258C|FAM21C_ENST00000359860.4_Missense_Mutation_p.G202C	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	258								p.G257S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGATGATGATGGCTGTGACCT	0.388000													68	70					6.83469e-46	1.31663e-45	0.870114	1	0
SPATA31A7	26165	broad.mit.edu	37	9	65507509	65507509	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:65507509C>T	ENST00000355045.2	-	3	334	c.306G>A	c.(304-306)caG>caA	p.Q102Q	SPATA31A7_ENST00000491812.2_5'UTR	NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7																		TGCCTCACCTCTGCAGTTGTG	0.632000													63	201					0	0	0.870114	0	0
GRM3	2913	broad.mit.edu	37	7	86416074	86416074	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:86416074C>A	ENST00000361669.2	+	3	2065	c.966C>A	c.(964-966)acC>acA	p.T322T	GRM3_ENST00000439827.1_Silent_p.T322T|GRM3_ENST00000536043.1_Silent_p.T194T|GRM3_ENST00000394720.2_Silent_p.T320T|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	322					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCGCCATCACCCTGGAGCTGG	0.667000													20	43					1.2644e-06	1.44236e-06	0.592651	1	0
LRP4	4038	broad.mit.edu	37	11	46900520	46900520	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:46900520C>T	ENST00000378623.1	-	22	3316	c.3074G>A	c.(3073-3075)gGa>gAa	p.G1025E		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1025					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACAGCTGAATCCGCTTGGATT	0.542000													47	133					0	0	0.870114	0	0
ARID2	196528	broad.mit.edu	37	12	46245090	46245090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:46245090C>T	ENST00000334344.6	+	15	3356	c.3184C>T	c.(3184-3186)Cag>Tag	p.Q1062*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q672*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q913*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1062	Gln-rich.			Q -> R (in Ref. 4; CAH18689).	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGATTAAACAGCTTCTGCT	0.507000			"""N, S, F"""		hepatocellular carcinoma								84	61					0	0	0.870114	0	0
USP6	9098	broad.mit.edu	37	17	5050428	5050428	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:5050428G>C	ENST00000574788.1	+	29	4600	c.2370G>C	c.(2368-2370)ttG>ttC	p.L790F	USP6_ENST00000250066.6_Missense_Mutation_p.L790F|USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Missense_Mutation_p.L473F			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	790					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCGGATTTTTGTGTGCATTTG	0.403000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								39	33					0	0	0.870114	0	0
POTEG	404785	broad.mit.edu	37	14	19553825	19553825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:19553825C>T	ENST00000409832.3	+	1	461	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	137										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACGTCCGTCGAGAAGATCT	0.577000													31	205					0	0	0.819951	0	0
C2orf70	339778	broad.mit.edu	37	2	26800411	26800411	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:26800411C>G	ENST00000409392.1	+	4	440	c.338C>G	c.(337-339)tCa>tGa	p.S113*	C2orf70_ENST00000329615.3_Missense_Mutation_p.Q126E			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	0										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GAAGTACTATCAAGACAAGAC	0.577000											OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	72					0	0	0.804634	0	0
OR5J2	282775	broad.mit.edu	37	11	55944704	55944704	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55944704G>T	ENST00000312298.1	+	1	611	c.611G>T	c.(610-612)gGa>gTa	p.G204V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACCTTCTCCGGAGTCATTGCC	0.468000													71	88					8.16569e-41	1.54276e-40	0.870114	1	0
PCOLCE	5118	broad.mit.edu	37	7	100202835	100202835	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:100202835C>T	ENST00000223061.5	+	4	865	c.585C>T	c.(583-585)gaC>gaT	p.D195D		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	195	CUB 2.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGCCCCCGGACCAGGTACCGA	0.667000													23	39					0	0	0.750413	0	0
ATAD2	29028	broad.mit.edu	37	8	124371525	124371525	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:124371525C>G	ENST00000287394.5	-	11	1425	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCACCATCTCTTTTAGAGCT	0.328000													15	270					0	0	0.520397	0	0
CCZ1	51622	broad.mit.edu	37	7	5942366	5942366	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:5942366C>A	ENST00000325974.6	+	6	579	c.513C>A	c.(511-513)ttC>ttA	p.F171L	CCZ1_ENST00000537980.1_Missense_Mutation_p.F28L	NM_015622.5	NP_056437.4	P86790	CCZ1L_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	171						lysosomal membrane				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TAGAGAAATTCTTCCATCGGG	0.333000													13	51					2.48551e-13	3.39294e-13	0.520397	1	0
ABR	29	broad.mit.edu	37	17	915173	915173	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:915173C>T	ENST00000544583.2	-	19	2475	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K	ABR_ENST00000302538.5_Missense_Mutation_p.E672K|ABR_ENST00000574437.1_Missense_Mutation_p.E626K|ABR_ENST00000572441.1_Intron|ABR_ENST00000291107.2_Missense_Mutation_p.E635K|ABR_ENST00000543210.2_Missense_Mutation_p.E123K|ABR_ENST00000536794.2_Missense_Mutation_p.E454K	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	672					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCCCTCTTCTCCACCTCCTCC	0.647000													56	47					0	0	0.870114	0	0
DNER	92737	broad.mit.edu	37	2	230456479	230456479	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:230456479C>A	ENST00000341772.4	-	2	536	c.402G>T	c.(400-402)caG>caT	p.Q134H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	134					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGGGAAGTGCCTGTTCACAGT	0.572000													29	45					1.90571e-15	2.76285e-15	0.796494	1	0
EPRS	2058	broad.mit.edu	37	1	220193330	220193330	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:220193330C>A	ENST00000366923.3	-	10	1618	c.1349_splice	c.e10+1	p.W450_splice		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	450	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTAAACATACCATCCATCTAC	0.373000													9	35					2.74318e-10	3.47859e-10	0.335167	1	0
PREPL	9581	broad.mit.edu	37	2	44571697	44571697	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:44571697T>C	ENST00000541738.1	-	3	490	c.104A>G	c.(103-105)cAa>cGa	p.Q35R	PREPL_ENST00000540817.1_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.Q124R|PREPL_ENST00000378520.3_Missense_Mutation_p.Q124R|PREPL_ENST00000410081.1_Missense_Mutation_p.Q124R|PREPL_ENST00000409936.1_Missense_Mutation_p.Q124R|PREPL_ENST00000409411.1_Missense_Mutation_p.Q35R|PREPL_ENST00000409272.1_Missense_Mutation_p.Q124R|PREPL_ENST00000409957.1_Missense_Mutation_p.Q35R|PREPL_ENST00000378511.3_Missense_Mutation_p.Q124R	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	124					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACAACCTTCTTGGTAATAAAC	0.299000													7	33					0	0	0.335167	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253685	32253685	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:32253685C>A	ENST00000332378.4	-	1	189	c.159G>T	c.(157-159)ctG>ctT	p.L53L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	53						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GACAGTGGTCCAGGAGCCAAG	0.572000													24	27					7.26314e-15	1.03241e-14	0.717897	1	0
ZNF775	285971	broad.mit.edu	37	7	150093920	150093920	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:150093920C>T	ENST00000329630.5	+	3	458	c.351C>T	c.(349-351)agC>agT	p.S117S		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGGTTCAGCTGGTGGTCGT	0.667000													5	11					0	0	0.184627	0	0
DOCK10	55619	broad.mit.edu	37	2	225695318	225695318	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:225695318G>T	ENST00000409592.3	-	27	3071	c.2958C>A	c.(2956-2958)ttC>ttA	p.F986L	DOCK10_ENST00000258390.7_Missense_Mutation_p.F992L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	992							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGCAAAGAAGAACCAGGAAT	0.279000													3	9					0.00024832	0.000265497	0.150653	1	0
NOX4	50507	broad.mit.edu	37	11	89135564	89135564	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:89135564G>T	ENST00000535633.1	-	9	1014	c.704C>A	c.(703-705)gCa>gAa	p.A235E	NOX4_ENST00000528341.1_Missense_Mutation_p.A234E|NOX4_ENST00000534731.1_Missense_Mutation_p.A259E|NOX4_ENST00000343727.5_Missense_Mutation_p.A235E|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.A235E|NOX4_ENST00000263317.4_Missense_Mutation_p.A259E|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.A235E|NOX4_ENST00000527956.1_Missense_Mutation_p.A235E|NOX4_ENST00000527626.1_Missense_Mutation_p.A93E|NOX4_ENST00000413594.2_Missense_Mutation_p.A280E|NOX4_ENST00000532825.1_Missense_Mutation_p.A235E	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	259	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGTAAACTCTGCCGGTTTTGA	0.393000													35	116					1.57019e-19	2.43467e-19	0.834066	1	0
EEPD1	80820	broad.mit.edu	37	7	36194773	36194773	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:36194773G>T	ENST00000242108.4	+	2	1558	c.840G>T	c.(838-840)ggG>ggT	p.G280G	EEPD1_ENST00000534978.1_Silent_p.G280G	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	280					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACAACCCCGGGGTGCGAGAGG	0.597000													35	40					1.32136e-16	1.96502e-16	0.840704	1	0
AARS	16	broad.mit.edu	37	16	70287221	70287221	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:70287221T>C	ENST00000261772.8	-	20	2814	c.2671A>G	c.(2671-2673)Acg>Gcg	p.T891A		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	891					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TTGTCCACCGTGAAGAGCATG	0.572000											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	46					0	0	0.706142	0	0
OR3A1	4994	broad.mit.edu	37	17	3195518	3195518	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:3195518G>T	ENST00000323404.1	-	1	358	c.359C>A	c.(358-360)gCc>gAc	p.A120D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	120				A -> D (in Ref. 6; AAA18347).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATAGGCCATGGCGGTCAGCAG	0.612000													43	43					6.21074e-16	9.04428e-16	0.859065	1	0
TMEM145	284339	broad.mit.edu	37	19	42824510	42824510	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:42824510G>T	ENST00000598766.1	+	13	1187	c.1187G>T	c.(1186-1188)gGc>gTc	p.G396V	TMEM145_ENST00000301204.3_Missense_Mutation_p.G372V			Q8NBT3	TM145_HUMAN	transmembrane protein 145	372						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GCCAATTTCGGCATCCCCAAG	0.562000													33	79					1.57351e-24	2.64906e-24	0.788014	1	0
ELTD1	64123	broad.mit.edu	37	1	79404905	79404905	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:79404905T>C	ENST00000370742.3	-	4	427	c.364A>G	c.(364-366)Ata>Gta	p.I122V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	122					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTTGCAGCTATACAGACATTA	0.244000													12	51					0	0	0.457914	0	0
MYL2	4633	broad.mit.edu	37	12	111352024	111352024	+	Silent	SNP	A	A	T	rs35714558		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:111352024A>T	ENST00000228841.8	-	4	287	c.240T>A	c.(238-240)acT>acA	p.T80T	MYL2_ENST00000548438.1_Silent_p.T66T	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	80					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TGAGGAACACAGTAAAGTTAA	0.473000													68	31					0	0	0.870114	0	0
FLNC	2318	broad.mit.edu	37	7	128475589	128475589	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:128475589G>T	ENST00000325888.8	+	2	823	c.562G>T	c.(562-564)Ggc>Tgc	p.G188C	FLNC_ENST00000346177.6_Missense_Mutation_p.G188C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	188	Actin-binding.|CH 2.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGCAGGACGGCAAAGCTCT	0.632000													25	40					2.48779e-11	3.25787e-11	0.693898	1	0
OR8I2	120586	broad.mit.edu	37	11	55860945	55860945	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55860945G>C	ENST00000302124.2	+	1	193	c.162G>C	c.(160-162)caG>caC	p.Q54H	OR8I2_ENST00000560768.1_Missense_Mutation_p.Q54H			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGGATTCTCAGCTTCACACCC	0.368000													93	269					0	0	0.870114	0	0
NUAK1	9891	broad.mit.edu	37	12	106477704	106477704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:106477704C>A	ENST00000261402.2	-	4	1896	c.517G>T	c.(517-519)Ggt>Tgt	p.G173C		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	173	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G173C(4)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGACCACACCGTTCTGAAAT	0.488000													64	20					9.81062e-57	1.92775e-56	0.870114	1	0
SYN1	6853	broad.mit.edu	37	X	47432282	47432282	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:47432282G>C	ENST00000295987.7	-	13	2223	c.2099C>G	c.(2098-2100)gCc>gGc	p.A700G	SYN1_ENST00000340666.4_3'UTR	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	700	E.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GAAGAGGCTGGCGAAAGACTT	0.572000													31	29					0	0	0.804634	0	0
OR5D16	390144	broad.mit.edu	37	11	55606682	55606682	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55606682C>G	ENST00000378396.1	+	1	455	c.455C>G	c.(454-456)gCa>gGa	p.A152G		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GTATTGTATGCATGGGGAGTC	0.463000													37	51					0	0	0.847076	0	0
SMC3	9126	broad.mit.edu	37	10	112340735	112340735	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:112340735A>T	ENST00000361804.4	+	8	629	c.503A>T	c.(502-504)tAt>tTt	p.Y168F	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	168					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ACTAGAGTGTATGACGAACGA	0.323000													34	29					0	0	0.840704	0	0
TTN	7273	broad.mit.edu	37	2	179438817	179438817	+	Silent	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179438817T>G	ENST00000589042.1	-	326	72266	c.72042A>C	c.(72040-72042)ccA>ccC	p.P24014P	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.P15074P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.P14949P|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.P15141P|TTN_ENST00000342992.6_Silent_p.P21446P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.P22373P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22373	Fibronectin type-III 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCATCAGATGGCTCAGATG	0.428000													41	56					0	0	0.870114	0	0
TRADD	8717	broad.mit.edu	37	16	67188799	67188799	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:67188799C>A	ENST00000345057.4	-	5	1160	c.692G>T	c.(691-693)cGc>cTc	p.R231L	TRADD_ENST00000486556.1_Missense_Mutation_p.R171L	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	231	Death.|Interaction with KRT14 and KRT18.				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCCCACCTTGCGCCATTTGAG	0.682000													8	9					1.05317e-09	1.30269e-09	0.457914	1	0
C11orf57	55216	broad.mit.edu	37	11	111946290	111946290	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:111946290G>T	ENST00000532163.1	+	2	630		c.e2-1		C11orf57_ENST00000530104.1_Splice_Site|C11orf57_ENST00000280352.9_Splice_Site|C11orf57_ENST00000420986.2_Splice_Site|C11orf57_ENST00000393047.3_Splice_Site			Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57											autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		ATTCATTTCAGATTGAAGAAT	0.383000													12	26					0.00316338	0.00328556	0.479597	1	0
ROCK1	6093	broad.mit.edu	37	18	18567066	18567066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:18567066C>A	ENST00000399799.1	-	19	3089	c.2149G>T	c.(2149-2151)Gaa>Taa	p.E717*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	717	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGCTTTTTTTCCATCTCTGGG	0.368000													14	19					0.000308642	0.000328916	0.479597	1	0
RPS6KA1	6195	broad.mit.edu	37	1	26888135	26888135	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:26888135A>G	ENST00000374168.2	+	17	1725	c.1571A>G	c.(1570-1572)gAg>gGg	p.E524G	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E508G|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E513G|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E432G|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E432G|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E533G	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	524	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAAACTGTGGAGTATCTGCAC	0.577000													54	60					0	0	0.870114	0	0
CASS4	57091	broad.mit.edu	37	20	55033432	55033432	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:55033432C>A	ENST00000371336.3	+	6	2191	c.1990C>A	c.(1990-1992)Cag>Aag	p.Q664K	CASS4_ENST00000360314.3_Missense_Mutation_p.Q664K|CASS4_ENST00000434344.1_Missense_Mutation_p.Q227K	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	664					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTCGAGTCAACAGACTCCTGA	0.517000													23	42					4.87955e-14	6.80296e-14	0.693898	1	0
IGKV1-27	28935	broad.mit.edu	37	2	89513005	89513005	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:89513005C>A	ENST00000498435.1	-	0	284																											TCCACTGCCACTGAACCGAGA	0.483000													23	113					2.61193e-14	3.65969e-14	0.740014	1	0
SPIRE1	56907	broad.mit.edu	37	18	12479749	12479749	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:12479749C>A	ENST00000409402.4	-	10	1620	c.1353G>T	c.(1351-1353)aaG>aaT	p.K451N	SPIRE1_ENST00000383356.2_Missense_Mutation_p.K278N|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.K317N|SPIRE1_ENST00000309836.5_Missense_Mutation_p.K240N|SPIRE1_ENST00000410092.3_Missense_Mutation_p.K437N	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	451						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TGAGGAGCTTCTTCCGCTGTG	0.512000													16	21					1.52009e-12	2.03821e-12	0.479597	1	0
SZT2	23334	broad.mit.edu	37	1	43869348	43869348	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:43869348G>A	ENST00000562955.1	+	3	230	c.230G>A	c.(229-231)aGg>aAg	p.R77K	SZT2_ENST00000372450.4_Missense_Mutation_p.R75K|SZT2_ENST00000310739.4_Missense_Mutation_p.R77K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	77						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTGGTCCCAAGGCCATTCCTC	0.522000													52	57					0	0	0.870114	0	0
CREM	1390	broad.mit.edu	37	10	35484948	35484948	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:35484948G>A	ENST00000344351.5	+	0	104				CREM_ENST00000345491.3_Intron|CREM_ENST00000468236.1_De_novo_Start_InFrame|CREM_ENST00000463960.1_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000488741.1_De_novo_Start_OutOfFrame|CREM_ENST00000460270.1_Intron|CREM_ENST00000488328.1_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000474931.1_De_novo_Start_InFrame|CREM_ENST00000395887.3_Intron|CREM_ENST00000473940.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000356917.5_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000490511.1_De_novo_Start_InFrame|CREM_ENST00000348787.2_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000374721.3_Intron	NM_182721.1	NP_874390.1	Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TTTTGAAGTGGTTGTCTGCTT	0.438000											OREG0020123	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	17					0	0	0.248553	0	0
SOS1	6654	broad.mit.edu	37	2	39250136	39250136	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:39250136G>A	ENST00000426016.1	-	11	1519	c.1433C>T	c.(1432-1434)cCa>cTa	p.P478L	SOS1_ENST00000402219.2_Missense_Mutation_p.P478L|SOS1_ENST00000395038.2_Missense_Mutation_p.P478L|SOS1_ENST00000472480.1_5'UTR			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	478	PH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGGAAGTCTTGGCTGCCCATG	0.363000									Noonan syndrome				18	65					0	0	0.575678	0	0
CHST6	4166	broad.mit.edu	37	16	75513169	75513169	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:75513169C>T	ENST00000332272.4	-	3	737	c.558G>A	c.(556-558)ccG>ccA	p.P186P	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P186P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	186					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGCTGAGCAGCGGGTAGAGCA	0.706000													22	58					0	0	0.681144	0	0
SNAI2	6591	broad.mit.edu	37	8	49832848	49832848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:49832848C>A	ENST00000396822.1	-	3	589	c.232G>T	c.(232-234)Gga>Tga	p.G78*	SNAI2_ENST00000020945.1_Nonsense_Mutation_p.G78*			O43623	SNAI2_HUMAN	snail family zinc finger 2	78					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAGGAGTATCCGGAAAGAGGA	0.567000													62	56					9.53978e-28	1.66016e-27	0.870114	1	0
SPATA18	132671	broad.mit.edu	37	4	52942955	52942955	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:52942955A>T	ENST00000295213.4	+	7	1143	c.769A>T	c.(769-771)Agc>Tgc	p.S257C	SPATA18_ENST00000419395.2_Missense_Mutation_p.S225C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	257	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCCTCCAGGAGCCGGTCTCC	0.582000													21	48					0	0	0.693898	0	0
CHRM3	1131	broad.mit.edu	37	1	240072190	240072190	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:240072190G>A	ENST00000255380.4	+	5	2218	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	480					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAGCGGAAAAGGATGTCCCTG	0.527000													21	52					0	0	0.624587	0	0
DACT1	51339	broad.mit.edu	37	14	59113649	59113649	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:59113649A>G	ENST00000395153.3	+	4	2344	c.2197A>G	c.(2197-2199)Agc>Ggc	p.S733G	DACT1_ENST00000556859.1_Missense_Mutation_p.S489G|DACT1_ENST00000541264.2_Missense_Mutation_p.S489G|DACT1_ENST00000335867.4_Missense_Mutation_p.S770G|DACT1_ENST00000395151.3_Missense_Mutation_p.S489G	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	770					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CGTGGGGGAGAGCACAACCAC	0.577000													67	101					0	0	0.870114	0	0
FAM98A	25940	broad.mit.edu	37	2	33820593	33820593	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:33820593C>A	ENST00000403368.1	-	2	234	c.165G>T	c.(163-165)gtG>gtT	p.V55V	FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Silent_p.V55V	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	55										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					GTTTACAGAGCACTCTTAATT	0.423000													16	95					3.45872e-05	3.80362e-05	0.500413	1	0
IRGC	56269	broad.mit.edu	37	19	44223974	44223974	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:44223974G>A	ENST00000244314.5	+	2	1463	c.1264G>A	c.(1264-1266)Ggc>Agc	p.G422S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	422						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAGTGACAATGGCGTGGAAAA	0.627000													12	31					0	0	0.435327	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409085	105409085	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:105409085G>T	ENST00000333244.5	-	7	12822	c.12703C>A	c.(12703-12705)Cag>Aag	p.Q4235K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4235						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCACCTGGGGGCCCTTG	0.657000													67	130					1.15773e-35	2.13392e-35	0.870114	1	0
NDUFA11	126328	broad.mit.edu	37	19	5894810	5894810	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:5894810G>A	ENST00000308961.4	-	4	416	c.369C>T	c.(367-369)tcC>tcT	p.S123S	NDUFA11_ENST00000592634.1_3'UTR|NDUFA11_ENST00000418389.2_Intron|FUT5_ENST00000252675.5_Intron|AC024592.12_ENST00000586349.1_Intron	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	123					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity			central_nervous_system(1)|lung(1)	2					NADH(DB00157)	TCTTGACCAGGGAGGCCGCTA	0.667000													8	17					0	0	0.387290	0	0
ABCB11	8647	broad.mit.edu	37	2	169825929	169825929	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:169825929C>A	ENST00000263817.6	-	16	2066	c.1942G>T	c.(1942-1944)Ggt>Tgt	p.G648C		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	648	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AAGTAAACACCTTTCCTTTCC	0.428000													12	14					4.3838e-07	5.07394e-07	0.435327	1	0
NRXN1	9378	broad.mit.edu	37	2	50280718	50280718	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:50280718G>T	ENST00000404971.1	-	22	5278	c.3939C>A	c.(3937-3939)ctC>ctA	p.L1313L	NRXN1_ENST00000342183.5_Silent_p.L208L|NRXN1_ENST00000401669.2_Silent_p.L1273L|NRXN1_ENST00000406316.2_Silent_p.L1243L|NRXN1_ENST00000406859.3_Silent_p.L1243L|NRXN1_ENST00000405472.3_Silent_p.L1265L|NRXN1_ENST00000401710.1_Silent_p.L261L|NRXN1_ENST00000402717.3_Silent_p.L1265L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1243					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGAAGATTGTGAGCTGACGCC	0.418000													24	43					2.24059e-21	3.59337e-21	0.706142	1	0
TTLL8	164714	broad.mit.edu	37	22	50468872	50468872	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:50468872C>A	ENST00000266182.6	-	12	2189	c.2190G>T	c.(2188-2190)ccG>ccT	p.P730P	TTLL8_ENST00000440475.1_Silent_p.P710P					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TTCCTCCGGGCGGCGGACGCA	0.701000													9	9					0.00829132	0.00854824	0.361761	1	0
HCRTR1	3061	broad.mit.edu	37	1	32084919	32084919	+	Silent	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:32084919A>G	ENST00000403528.2	+	3	511	c.126A>G	c.(124-126)ccA>ccG	p.P42P	HCRTR1_ENST00000373706.5_Silent_p.P42P|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.P42P	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	42					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		ATCTGTACCCAAAACAGTATG	0.607000													35	192					0	0	0.840704	0	0
PLXNA4	91584	broad.mit.edu	37	7	131888125	131888125	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:131888125C>A	ENST00000359827.3	-	11	3314	c.2352G>T	c.(2350-2352)gtG>gtT	p.V784V	PLXNA4_ENST00000321063.4_Silent_p.V784V			Q9HCM2	PLXA4_HUMAN	plexin A4	784						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCCCATTCCACACGACTGTCA	0.562000													74	132					3.17287e-45	6.10623e-45	0.870114	1	0
COL4A3	1285	broad.mit.edu	37	2	228104898	228104898	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:228104898C>A	ENST00000396578.3	+	3	346	c.184C>A	c.(184-186)Cag>Aag	p.Q62K	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	62	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTCTCCTGGCCAGAAAGGATT	0.532000													5	13					0.307466	0.308724	0.307466	1	0
GALNT14	79623	broad.mit.edu	37	2	31147628	31147628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:31147628C>A	ENST00000349752.5	-	12	1852	c.1213G>T	c.(1213-1215)Gag>Tag	p.E405*	GALNT14_ENST00000420311.2_Nonsense_Mutation_p.E370*|GALNT14_ENST00000324589.5_Nonsense_Mutation_p.E410*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.E385*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.E372*|GALNT14_ENST00000486564.1_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	405						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TAGATATTCTCCAGGTACCAC	0.532000													8	56					0.000442599	0.000469634	0.335167	1	0
USH2A	7399	broad.mit.edu	37	1	215823935	215823935	+	Splice_Site	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:215823935A>T	ENST00000366943.2	-	65	14728	c.14343_splice	c.e65+1	p.V4781_splice	USH2A_ENST00000307340.3_Splice_Site_p.V4781_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4781	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGCTCACCACTGTCTCAGC	0.468000										HNSCC(13;0.011)			7	34					0	0	0.248553	0	0
TRIM9	114088	broad.mit.edu	37	14	51444066	51444066	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:51444066C>G	ENST00000298355.3	-	10	3197	c.2076G>C	c.(2074-2076)acG>acC	p.T692T		NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	692	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CGGTGTGCAGCGTGACCTGGG	0.577000													16	32					0	0	0.575678	0	0
RYR2	6262	broad.mit.edu	37	1	237777747	237777747	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:237777747T>C	ENST00000366574.2	+	37	5636	c.5319T>C	c.(5317-5319)aaT>aaC	p.N1773N	RYR2_ENST00000360064.6_Silent_p.N1771N|RYR2_ENST00000542537.1_Silent_p.N1757N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1773	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCATTAGTAATGAATGTTACC	0.498000													14	59					0	0	0.479597	0	0
DOK6	220164	broad.mit.edu	37	18	67365808	67365808	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:67365808G>T	ENST00000382713.5	+	5	768	c.578G>T	c.(577-579)tGg>tTg	p.W193L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	193	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GACTCAACGTGGTTCACGTTT	0.473000													20	19					4.26978e-12	5.64796e-12	0.654019	1	0
CDH11	1009	broad.mit.edu	37	16	64981713	64981713	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:64981713T>C	ENST00000268603.4	-	13	2799	c.2184A>G	c.(2182-2184)gcA>gcG	p.A728A	CDH11_ENST00000566827.1_Silent_p.A602A|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	728					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGTCATTGTCTGCCTCCTGTA	0.557000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			32	47					0	0	0.750413	0	0
KIF6	221458	broad.mit.edu	37	6	39563928	39563928	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:39563928C>T	ENST00000287152.7	-	7	842	c.748G>A	c.(748-750)Gac>Aac	p.D250N	KIF6_ENST00000373215.3_Missense_Mutation_p.D250N|KIF6_ENST00000373216.3_Missense_Mutation_p.D250N|KIF6_ENST00000538893.1_Missense_Mutation_p.D250N|KIF6_ENST00000373213.4_Missense_Mutation_p.D89N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	250	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCAGCCAGGTCAACCAGATGG	0.473000													66	99					0	0	0.870114	0	0
BARHL1	56751	broad.mit.edu	37	9	135458478	135458478	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:135458478C>A	ENST00000263610.2	+	1	907	c.294C>A	c.(292-294)atC>atA	p.I98I	BARHL1_ENST00000542090.1_Silent_p.I98I	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	98						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCTTTCTGATCAGGGACATCC	0.706000													115	117					1.02165e-56	2.0055e-56	0.870114	1	0
CHGB	1114	broad.mit.edu	37	20	5897567	5897567	+	Splice_Site	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:5897567T>A	ENST00000378961.4	+	3	394		c.e3+2		CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)							extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TGAAGACGAGTAAGTGTCCCA	0.547000													13	63					0	0	0.520397	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318801	21318801	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:21318801G>T	ENST00000583088.1	+	3	1042	c.147G>T	c.(145-147)aaG>aaT	p.K49N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.K49N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TCGTCAAGAAGAATGGCCAGT	0.612000										Prostate(3;0.18)			4	40					5.9392e-07	6.82591e-07	0.217242	1	0
ACTA1	58	broad.mit.edu	37	1	229568586	229568586	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:229568586G>T	ENST00000366684.3	-	3	273	c.171C>A	c.(169-171)ggC>ggA	p.G57G	ACTA1_ENST00000366683.2_Silent_p.G57G	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	57					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GAGCCTCGTCGCCCACGTAGG	0.592000													14	54					0.000422831	0.000450118	0.500413	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33566721	33566721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:33566721C>A	ENST00000321505.4	+	2	2471	c.2291C>A	c.(2290-2292)cCc>cAc	p.P764H	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P770H|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P770H					KIAA1549-like																		CTGGAGATGCCCAGAGCATCC	0.592000													83	89					9.43608e-27	1.6234e-26	0.870114	1	0
FBXO40	51725	broad.mit.edu	37	3	121340501	121340501	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:121340501C>A	ENST00000338040.4	+	3	639	c.225C>A	c.(223-225)tcC>tcA	p.S75S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	75					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GCCCTCTGTCCATGTCCCGCC	0.597000													33	99					7.11191e-15	1.01458e-14	0.769981	1	0
VASH2	79805	broad.mit.edu	37	1	213146048	213146048	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:213146048C>T	ENST00000366968.4	+	7	779	c.429C>T	c.(427-429)ggC>ggT	p.G143G	VASH2_ENST00000366966.2_Silent_p.G143G|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Silent_p.G164G|VASH2_ENST00000517399.1_Silent_p.G208G|VASH2_ENST00000366967.2_Silent_p.G104G|VASH2_ENST00000366964.3_Silent_p.G66G	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	208					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GCTCATTGGGCATGAGCCGCA	0.488000													19	47					0	0	0.592651	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136566	40136566	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:40136566C>A	ENST00000278198.2	-	2	3240	c.1277G>T	c.(1276-1278)tGt>tTt	p.C426F	LRRC4C_ENST00000527150.1_Missense_Mutation_p.C426F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.C426F|LRRC4C_ENST00000528697.1_Missense_Mutation_p.C426F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	426	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACTCACCATACATGTGTACAT	0.443000													76	75					8.87156e-34	1.61999e-33	0.870114	1	0
SLITRK3	22865	broad.mit.edu	37	3	164908132	164908132	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:164908132G>T	ENST00000475390.1	-	2	930	c.487C>A	c.(487-489)Cgt>Agt	p.R163S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R163S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	163						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCTCAATACGTTTAATGACA	0.368000										HNSCC(40;0.11)			22	56					2.44723e-14	3.43628e-14	0.681144	1	0
PDE6B	5158	broad.mit.edu	37	4	619666	619666	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:619666G>T	ENST00000255622.6	+	1	294	c.251G>T	c.(250-252)tGc>tTc	p.C84F	PDE6B_ENST00000496514.1_Missense_Mutation_p.C84F	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	84	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGGCGCCTCTGCACCCTCCTG	0.662000													3	6					0.115264	0.116331	0.115264	1	0
TYW1	55253	broad.mit.edu	37	7	66463934	66463934	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:66463934C>T	ENST00000359626.5	+	3	430	c.266C>T	c.(265-267)aCa>aTa	p.T89I		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	89	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGACTGGAACAGCGAAGGTA	0.378000													13	41					0	0	0.435327	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140799836	140799836	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140799836A>T	ENST00000398594.2	+	1	2410	c.2410A>T	c.(2410-2412)Aaa>Taa	p.K804*	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGATTCTTAAACAGGTAAG	0.308000													32	25					0	0	0.788014	0	0
CLNK	116449	broad.mit.edu	37	4	10567717	10567717	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:10567717C>A	ENST00000226951.6	-	6	447	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	CLNK_ENST00000442825.2_Missense_Mutation_p.D28Y|CLNK_ENST00000507719.1_Missense_Mutation_p.D28Y	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	70					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCAGGGTCATCATAGTCATCA	0.463000													35	110					4.14481e-20	6.49342e-20	0.819951	1	0
KMT2A	4297	broad.mit.edu	37	11	118344408	118344408	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:118344408C>T	ENST00000534358.1	+	3	2557	c.2534C>T	c.(2533-2535)aCt>aTt	p.T845I	KMT2A_ENST00000354520.4_Missense_Mutation_p.T845I|KMT2A_ENST00000389506.5_Missense_Mutation_p.T845I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GGCTCTCAGACTGAAAGAGGG	0.507000													14	36					0	0	0.500413	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671753	125671753	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:125671753G>T	ENST00000431078.1	+	24	4173	c.3809G>T	c.(3808-3810)cGt>cTt	p.R1270L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1270					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGTCACATCGTACGAGCCAG	0.458000													32	134					1.836e-18	2.8091e-18	0.788014	1	0
FAM171B	165215	broad.mit.edu	37	2	187627519	187627519	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:187627519G>T	ENST00000304698.5	+	8	2653	c.2450G>T	c.(2449-2451)cGa>cTa	p.R817L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	817						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGGAAGAAGCGAGAGGAACGC	0.438000													12	61					3.03607e-14	4.25093e-14	0.411799	1	0
RORA	6095	broad.mit.edu	37	15	60907165	60907165	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:60907165C>A	ENST00000309157.4	-	2	268	c.199G>T	c.(199-201)Gat>Tat	p.D67Y	RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_Intron|RORA_ENST00000335670.6_Intron	NM_002943.3	NP_002934.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	70	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTGGCTCCATCCCAGTTTATG	0.468000													16	23					3.45872e-05	3.80362e-05	0.500413	1	0
CUL5	8065	broad.mit.edu	37	11	107969145	107969145	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:107969145G>A	ENST00000393094.2	+	18	2653	c.2037G>A	c.(2035-2037)aaG>aaA	p.K679K		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	679					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAAATGCAAAGGTTCAGAAAA	0.323000													19	51					0	0	0.681144	0	0
KRT28	162605	broad.mit.edu	37	17	38953282	38953282	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:38953282C>A	ENST00000306658.7	-	5	929	c.864G>T	c.(862-864)ctG>ctT	p.L288L		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	288	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCTGTTGCTGCAGCGAGGCGC	0.652000													21	84					4.4004e-07	5.08715e-07	0.654019	1	0
GLI2	2736	broad.mit.edu	37	2	121747635	121747635	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:121747635G>A	ENST00000452319.1	+	14	4205	c.4145G>A	c.(4144-4146)cGc>cAc	p.R1382H	GLI2_ENST00000361492.4_Missense_Mutation_p.R1382H|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1382					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCACTGGCCGCCACCGTGGG	0.682000													13	10					0	0	0.520397	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	12					0.00024832	0.000265497	0.150653	1	0
VPS13B	157680	broad.mit.edu	37	8	100654432	100654432	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:100654432G>A	ENST00000358544.2	+	34	5800	c.5689G>A	c.(5689-5691)Gca>Aca	p.A1897T	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.A1872T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1897					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACGGTGACAGCAGAAGATCT	0.413000													17	186					0	0	0.575678	0	0
PTK2B	2185	broad.mit.edu	37	8	27294637	27294637	+	Splice_Site	SNP	A	A	C	rs1128434		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:27294637A>C	ENST00000397501.1	+	21	2149		c.e21-1		PTK2B_ENST00000420218.2_Splice_Site|PTK2B_ENST00000517339.1_Splice_Site|PTK2B_ENST00000544172.1_Splice_Site|PTK2B_ENST00000346049.5_Splice_Site|PTK2B_ENST00000397497.4_Splice_Site|PTK2B_ENST00000338238.4_Splice_Site	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta						apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTCTTGTTACAGAAAGGGGAG	0.537000													59	58					0	0	0.870114	0	0
CECR1	51816	broad.mit.edu	37	22	17672611	17672611	+	Silent	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:17672611A>G	ENST00000399839.1	-	5	1113	c.843T>C	c.(841-843)ccT>ccC	p.P281P	CECR1_ENST00000449907.2_Silent_p.P239P|CECR1_ENST00000262607.3_Silent_p.P281P|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000399837.2_Silent_p.P281P|CECR1_ENST00000330232.4_Silent_p.P40P			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	281					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAATAAACTCAGGGTGAGTTT	0.468000													31	162					0	0	0.769981	0	0
EHMT2	10919	broad.mit.edu	37	6	31850745	31850745	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:31850745C>T	ENST00000395728.3	-	23	3206	c.3207G>A	c.(3205-3207)ccG>ccA	p.P1069P	EHMT2_ENST00000375528.4_Silent_p.P1035P|EHMT2_ENST00000375530.4_Silent_p.P978P|EHMT2_ENST00000375537.4_Silent_p.P1012P|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1012	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGAAAATCAGCGGAGGCTCAA	0.582000													7	81					0	0	0.307466	0	0
BRCA1	672	broad.mit.edu	37	17	41246510	41246510	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:41246510G>T	ENST00000309486.4	-	9	1177	c.150C>A	c.(148-150)ccC>ccA	p.P50P	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Silent_p.P346P|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Silent_p.P299P|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Silent_p.P346P|BRCA1_ENST00000357654.3_Silent_p.P346P|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Silent_p.P346P|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	346					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTCACACAGGGGATCAGCAT	0.428000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			49	249					7.77372e-23	1.28126e-22	0.870114	1	0
RTBDN	83546	broad.mit.edu	37	19	12940753	12940753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:12940753C>T	ENST00000589272.1	-	3	466	c.137G>A	c.(136-138)tGg>tAg	p.W46*	RTBDN_ENST00000592204.1_Nonsense_Mutation_p.W24*|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000458671.2_Nonsense_Mutation_p.W14*|RTBDN_ENST00000393233.2_5'UTR|RTBDN_ENST00000322912.5_Nonsense_Mutation_p.W46*			Q9BSG5	RTBDN_HUMAN	retbindin	14						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						TTGCAGCACCCACGTCAGGCC	0.607000													20	57					0	0	0.608945	0	0
OR2T1	26696	broad.mit.edu	37	1	248569331	248569331	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:248569331C>A	ENST00000366474.1	+	1	36	c.36C>A	c.(34-36)ttC>ttA	p.F12L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGTTTTCTTCCCACTTTTAA	0.294000													8	32					5.18039e-06	5.82757e-06	0.278610	1	0
KCTD19	146212	broad.mit.edu	37	16	67335777	67335777	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:67335777T>C	ENST00000304372.5	-	5	747	c.692A>G	c.(691-693)aAc>aGc	p.N231S	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	231						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACATCAATGTTGGAGAAATT	0.418000													16	111					0	0	0.539581	0	0
KCNH2	3757	broad.mit.edu	37	7	150649743	150649743	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:150649743T>C	ENST00000392968.2	-	4	2159	c.1039A>G	c.(1039-1041)Acc>Gcc	p.T347A	KCNH2_ENST00000430723.3_Missense_Mutation_p.T443A|KCNH2_ENST00000262186.5_Missense_Mutation_p.T443A|KCNH2_ENST00000330883.4_Missense_Mutation_p.T103A			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	443			P -> S (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCACACTCGGTAGCAGGCGGG	0.592000													77	83					0	0	0.870114	0	0
MLX	6945	broad.mit.edu	37	17	40722075	40722075	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:40722075G>T	ENST00000246912.4	+	7	767	c.714G>T	c.(712-714)aaG>aaT	p.K238N	MLX_ENST00000346833.4_Missense_Mutation_p.K154N|MLX_ENST00000435881.2_Missense_Mutation_p.K184N	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	238					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACCAGGTCAAGTTCAACGTGT	0.537000													42	110					1.0096e-33	1.84015e-33	0.870114	1	0
FRY	10129	broad.mit.edu	37	13	32802630	32802630	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:32802630G>T	ENST00000380250.3	+	40	5740	c.5244G>T	c.(5242-5244)ccG>ccT	p.P1748P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1748					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGTCATCCCCGGTGCCTGACT	0.547000													121	131					1.9257e-63	3.81447e-63	0.870114	1	0
GDAP2	54834	broad.mit.edu	37	1	118439583	118439583	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:118439583C>A	ENST00000369443.4	-	8	1074	c.825G>T	c.(823-825)ttG>ttT	p.L275F	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.L275F	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	275										kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GATCAACTCCCAAGCCTTCAT	0.393000													26	56					3.67414e-24	6.14863e-24	0.760397	1	0
LRP4	4038	broad.mit.edu	37	11	46893082	46893082	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:46893082G>A	ENST00000378623.1	-	31	4928	c.4686C>T	c.(4684-4686)ctC>ctT	p.L1562L	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1562					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTACCTGTGTGAGGGCAAAGG	0.537000													11	14					0	0	0.435327	0	0
VPRBP	9730	broad.mit.edu	37	3	51517757	51517757	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:51517757C>T	ENST00000335891.5	-	1	97	c.88G>A	c.(88-90)Gac>Aac	p.D30N				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	30					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGTACCATGTCCTGCCCACTG	0.438000													110	64					0	0	0.870114	0	0
PROS1	5627	broad.mit.edu	37	3	93643109	93643109	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:93643109C>A	ENST00000394236.3	-	3	551		c.e3-1		PROS1_ENST00000407433.1_Splice_Site	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)						leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AAAAATAATCCTAGAAAGAAG	0.244000													16	31					4.96729e-08	5.86337e-08	0.575678	1	0
LGI1	9211	broad.mit.edu	37	10	95553020	95553020	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:95553020G>T	ENST00000371418.4	+	7	1011	c.751G>T	c.(751-753)Gtc>Ttc	p.V251F	LGI1_ENST00000371413.3_Missense_Mutation_p.V251F|LGI1_ENST00000542308.1_Missense_Mutation_p.V203F	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	251					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TGAGTATGTAGTCATCGCTCA	0.363000													37	26					1.49673e-21	2.41024e-21	0.819951	1	0
SLC17A1	6568	broad.mit.edu	37	6	25813433	25813433	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:25813433C>A	ENST00000244527.4	-	7	740	c.625G>T	c.(625-627)Ggc>Tgc	p.G209C	SLC17A1_ENST00000427328.1_Missense_Mutation_p.G209C|SLC17A1_ENST00000476801.1_Missense_Mutation_p.G209C|SLC17A1_ENST00000468082.1_Missense_Mutation_p.G209C	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	209				G -> C (in Ref. 9; BAA05888).	sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						ACGGCACAGCCACAAGCACCT	0.423000													38	46					1.15183e-24	1.94918e-24	0.847076	1	0
ELTD1	64123	broad.mit.edu	37	1	79392734	79392734	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:79392734G>C	ENST00000370742.3	-	8	983	c.920C>G	c.(919-921)cCt>cGt	p.P307R		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	307					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.P307H(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGAAAGCAAAGGACCAATACT	0.294000													12	46					0	0	0.681144	0	0
PFKFB3	5209	broad.mit.edu	37	10	6261529	6261529	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:6261529C>G	ENST00000536985.1	+	7	566	c.486C>G	c.(484-486)tgC>tgG	p.C162W	PFKFB3_ENST00000379775.4_Intron|PFKFB3_ENST00000379785.1_Intron|PFKFB3_ENST00000360521.2_Intron|PFKFB3_ENST00000540253.1_Intron|PFKFB3_ENST00000317350.4_Intron|PFKFB3_ENST00000379789.4_Intron|PFKFB3_ENST00000379782.3_Intron			Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	468	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGTGGTGTTGCAGGAAGTTAA	0.498000													6	62					0	0	0.248553	0	0
ITGAX	3687	broad.mit.edu	37	16	31368665	31368665	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:31368665G>T	ENST00000268296.4	+	5	531	c.410G>T	c.(409-411)aGg>aTg	p.R137M	ITGAX_ENST00000562918.1_3'UTR|ITGAX_ENST00000562522.1_Missense_Mutation_p.R137M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	137					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCACCCAGAGGCTCCCGGTG	0.657000													12	12					1.05317e-09	1.30269e-09	0.457914	1	0
VCAN	1462	broad.mit.edu	37	5	82876222	82876222	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:82876222G>T	ENST00000265077.3	+	15	10725	c.10160G>T	c.(10159-10161)tGg>tTg	p.W3387L	VCAN_ENST00000343200.5_Missense_Mutation_p.W2400L|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.W646L|VCAN_ENST00000512590.2_Missense_Mutation_p.W1585L|VCAN_ENST00000342785.4_Missense_Mutation_p.W1633L|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3387					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GATCATCGTTGGAGCCGGAGG	0.418000													17	9					2.37509e-13	3.24673e-13	0.592651	1	0
SLC25A11	8402	broad.mit.edu	37	17	4841325	4841325	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:4841325T>G	ENST00000225665.7	-	7	1122	c.782A>C	c.(781-783)aAc>aCc	p.N261T	SLC25A11_ENST00000544061.2_Missense_Mutation_p.N210T	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	261					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						CACCAGCCCGTTCTTGTATTC	0.612000													14	170					0	0	0.520397	0	0
FAM47C	442444	broad.mit.edu	37	X	37027803	37027803	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:37027803G>T	ENST00000358047.3	+	1	1372	c.1320G>T	c.(1318-1320)ccG>ccT	p.P440P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	440										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCCGCCCGGAACCTCCTG	0.607000													20	20					9.57634e-11	1.23187e-10	0.654019	1	0
KCNK10	54207	broad.mit.edu	37	14	88652419	88652419	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:88652419G>T	ENST00000340700.5	-	7	1528	c.1077C>A	c.(1075-1077)agC>agA	p.S359R	KCNK10_ENST00000319231.5_Missense_Mutation_p.S364R|KCNK10_ENST00000312350.5_Missense_Mutation_p.S364R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	359					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGATCTCCACGCTGAGCCTTC	0.647000													14	28					4.7546e-09	5.76841e-09	0.500413	1	0
METTL2B	55798	broad.mit.edu	37	7	128138164	128138164	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:128138164G>T	ENST00000480046.1	+	6	804	c.689G>T	c.(688-690)cGc>cTc	p.R230L	METTL2B_ENST00000262432.8_Missense_Mutation_p.R295L			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	295							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GATTACGGCCGCTATGACATG	0.483000													56	69					1.55545e-33	2.83241e-33	0.870114	1	0
HERC5	51191	broad.mit.edu	37	4	89383390	89383390	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:89383390G>C	ENST00000264350.3	+	4	724	c.571G>C	c.(571-573)Gta>Cta	p.V191L	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	191					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CCTCGCAGGAGTACCCTTGGC	0.507000													30	43					0	0	0.760397	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281797	71281797	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:71281797C>A	ENST00000335793.3	-	2	1237	c.843G>T	c.(841-843)ctG>ctT	p.L281L	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.L211L			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	281					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTCATCCTCCAGAGCATGGG	0.716000													4	19					0.00024832	0.000265497	0.150653	1	0
SPTBN4	57731	broad.mit.edu	37	19	41062025	41062025	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:41062025G>C	ENST00000352632.3	+	25	5206	c.5120G>C	c.(5119-5121)cGc>cCc	p.R1707P	SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450P|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707P|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707P|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383P|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707P			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1707					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGGACCGCCTGTACGTG	0.667000													6	31					0	0	0.217242	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881291	228881291	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:228881291G>T	ENST00000392056.3	-	7	4325	c.4279C>A	c.(4279-4281)Cct>Act	p.P1427T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1427T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1427						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGAATCAAAGGCACTTCCCTC	0.473000													28	36					0.0416009	0.0421593	0.740014	1	0
ASTN1	460	broad.mit.edu	37	1	176845761	176845761	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:176845761C>A	ENST00000367654.2	-	21	3412	c.3399G>T	c.(3397-3399)tgG>tgT	p.W1133C	ASTN1_ENST00000424564.2_Missense_Mutation_p.W1125C|ASTN1_ENST00000367657.3_Missense_Mutation_p.W1125C|ASTN1_ENST00000361833.2_Missense_Mutation_p.W1125C			O14525	ASTN1_HUMAN	astrotactin 1	1133	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTCCACTCCCCACAGCGTGA	0.602000													14	35					4.3838e-07	5.07394e-07	0.435327	1	0
CACNA1A	773	broad.mit.edu	37	19	13365938	13365938	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:13365938C>A	ENST00000360228.5	-	29	4725	c.4726G>T	c.(4726-4728)Gcc>Tcc	p.A1576S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1577S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1577					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.A1577T(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTGTTGAGGGCGATCATGGCC	0.557000													14	60					1.99824e-07	2.32792e-07	0.520397	1	0
IZUMO1	284359	broad.mit.edu	37	19	49245052	49245052	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:49245052C>T	ENST00000332955.2	-	8	1295	c.748G>A	c.(748-750)Gtc>Atc	p.V250I		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	250	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGACCTGTGACGTGAAAATTG	0.632000													6	8					0	0	0.248553	0	0
WDFY3	23001	broad.mit.edu	37	4	85654540	85654540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:85654540C>T	ENST00000322366.6	-	44	7623	c.7216G>A	c.(7216-7218)Gtg>Atg	p.V2406M	WDFY3_ENST00000295888.4_Missense_Mutation_p.V2406M			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2406						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTCACCGCCACATTTGTCTCT	0.388000													33	248					0	0	0.840704	0	0
PCNX	22990	broad.mit.edu	37	14	71429034	71429034	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:71429034G>T	ENST00000304743.2	+	3	900	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	PCNX_ENST00000439984.3_Missense_Mutation_p.D152Y|PCNX_ENST00000238570.5_Missense_Mutation_p.D152Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	152						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGCCGGTCTAGATCCAAGCAA	0.498000													52	69					3.28156e-27	5.67051e-27	0.870114	1	0
AHCTF1	25909	broad.mit.edu	37	1	247014369	247014369	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:247014369T>A	ENST00000366508.1	-	33	5180	c.5044A>T	c.(5044-5046)Agt>Tgt	p.S1682C	AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1647C|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1656C|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1647	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTTGGTCACTAGTTACGGCA	0.363000													27	112					0	0	0.740014	0	0
DAGLB	221955	broad.mit.edu	37	7	6470120	6470120	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:6470120C>G	ENST00000297056.6	-	6	1089	c.920G>C	c.(919-921)gGt>gCt	p.G307A	DAGLB_ENST00000428902.2_Missense_Mutation_p.G180A|DAGLB_ENST00000436575.1_Missense_Mutation_p.G266A|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	307					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.G307D(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CCAGTCACCACCAATCCTGCA	0.458000													8	74					0	0	0.435327	0	0
USP32P3	347716	broad.mit.edu	37	17	20319876	20319876	+	RNA	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:20319876G>C	ENST00000583574.2	+	0	205																											CATAAAGCCGGATCAGGTCCT	0.537000													34	80					0	0	0.804634	0	0
COL5A3	50509	broad.mit.edu	37	19	10079131	10079131	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:10079131C>T	ENST00000264828.3	-	59	4329	c.4244G>A	c.(4243-4245)gGa>gAa	p.G1415E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1415	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCAGCTTCTCCCGGGGGGCC	0.592000													35	124					0	0	0.819951	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565157	58565157	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:58565157G>C	ENST00000282326.1	+	6	1212	c.965G>C	c.(964-966)tGc>tCc	p.C322S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	322					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCTTTCCGTGCCCCGAGTGT	0.627000													11	61					0	0	0.500413	0	0
JAK1	3716	broad.mit.edu	37	1	65349110	65349110	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:65349110T>C	ENST00000342505.4	-	3	303	c.55A>G	c.(55-57)Atg>Gtg	p.M19V		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	19					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GAGCTCCTCATTTTAGCACAG	0.498000			Mis		ALL								24	58					0	0	0.706142	0	0
DOCK2	1794	broad.mit.edu	37	5	169506113	169506113	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:169506113C>A	ENST00000256935.8	+	49	5209	c.5129C>A	c.(5128-5130)gCg>gAg	p.A1710E	DOCK2_ENST00000540750.1_Missense_Mutation_p.A771E|DOCK2_ENST00000520908.1_Missense_Mutation_p.A1202E|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1710					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTAGTTTTTGCGGATGAGAAA	0.577000													19	14					3.62473e-10	4.55528e-10	0.608945	1	0
RYR2	6262	broad.mit.edu	37	1	237995906	237995906	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:237995906G>A	ENST00000366574.2	+	105	15180	c.14863G>A	c.(14863-14865)Ggg>Agg	p.G4955R	RYR2_ENST00000360064.6_Missense_Mutation_p.G4961R|RYR2_ENST00000542537.1_Missense_Mutation_p.G4939R|RYR2_ENST00000462585.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4955					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCCCAGCAGGGGATTGCTT	0.418000													8	27					0	0	0.361761	0	0
OR2D3	120775	broad.mit.edu	37	11	6942516	6942516	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:6942516C>A	ENST00000317834.3	+	1	312	c.284C>A	c.(283-285)cCt>cAt	p.P95H		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCATTGTCCCTCAAGTGTTG	0.393000													28	50					9.39395e-14	1.29679e-13	0.706142	1	0
POLD1	5424	broad.mit.edu	37	19	50918807	50918807	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:50918807G>C	ENST00000440232.2	+	21	2730	c.2677G>C	c.(2677-2679)Gac>Cac	p.D893H	POLD1_ENST00000595904.1_Missense_Mutation_p.D919H|POLD1_ENST00000599857.1_Missense_Mutation_p.D893H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	893					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGCGGCCTCCGACTATGCCGG	0.677000								DNA polymerases (catalytic subunits)					8	18					0	0	0.361761	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542052	133542052	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:133542052G>T	ENST00000409261.1	-	14	2705	c.2332C>A	c.(2332-2334)Cac>Aac	p.H778N	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.H778N|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	778							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATATATTGTGTGTTGGTTTG	0.443000													22	112					1.17739e-12	1.58086e-12	0.693898	1	0
ZNF438	220929	broad.mit.edu	37	10	31134022	31134022	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:31134022C>A	ENST00000538351.1	-	8	2962	c.2208G>T	c.(2206-2208)ctG>ctT	p.L736L	ZNF438_ENST00000442986.1_Silent_p.L785L|ZNF438_ENST00000452305.1_Silent_p.L775L|ZNF438_ENST00000413025.1_Silent_p.L785L|ZNF438_ENST00000444692.2_Silent_p.L775L|ZNF438_ENST00000331737.6_Silent_p.L775L|ZNF438_ENST00000436087.2_Silent_p.L785L|ZNF438_ENST00000375311.1_Silent_p.L349L|ZNF438_ENST00000361310.3_Silent_p.L785L	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CTTTCCGTCCCAGCATCTCTG	0.547000													40	148					3.19069e-20	5.02674e-20	0.870114	1	0
KIF7	374654	broad.mit.edu	37	15	90172276	90172276	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:90172276G>A	ENST00000394412.3	-	18	3671	c.3595C>T	c.(3595-3597)Cgt>Tgt	p.R1199C		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1199					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CACATGTAACGGCCCAGTTCC	0.562000													23	59					0	0	0.654019	0	0
OR52K2	119774	broad.mit.edu	37	11	4471274	4471274	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:4471274C>G	ENST00000325719.4	+	1	750	c.705C>G	c.(703-705)gcC>gcG	p.A235A		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCAGGAGGCCCGCTACAAGG	0.493000													84	68					0	0	0.870114	0	0
EEPD1	80820	broad.mit.edu	37	7	36338687	36338687	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:36338687G>A	ENST00000242108.4	+	8	2300	c.1582G>A	c.(1582-1584)Gct>Act	p.A528T	EEPD1_ENST00000534978.1_Missense_Mutation_p.A528T	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	528					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GGGCGGGGTGGCTTCTGAACA	0.597000													18	125					0	0	0.575678	0	0
MAST1	22983	broad.mit.edu	37	19	12976614	12976614	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:12976614C>T	ENST00000251472.4	+	16	1927	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	630	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GACCAACCCTCTGGTCAGGCT	0.612000													7	41					0	0	0.335167	0	0
TCTN2	79867	broad.mit.edu	37	12	124158352	124158352	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:124158352C>G	ENST00000303372.5	+	4	586	c.458C>G	c.(457-459)gCc>gGc	p.A153G	TCTN2_ENST00000426174.2_Missense_Mutation_p.A152G	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	153					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACCCATAATGCCTCAGGCAAG	0.458000													104	67					0	0	0.870114	0	0
EHMT2	10919	broad.mit.edu	37	6	31855581	31855581	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:31855581C>A	ENST00000395728.3	-	13	2073	c.2074G>T	c.(2074-2076)Gcc>Tcc	p.A692S	EHMT2_ENST00000375528.4_Missense_Mutation_p.A658S|EHMT2_ENST00000375530.4_Missense_Mutation_p.A601S|EHMT2_ENST00000375537.4_Missense_Mutation_p.A635S|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	635					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ATGACCAGGGCCTTTTCCAGG	0.652000													44	188					1.81118e-26	3.11054e-26	0.870114	1	0
GCNT1	2650	broad.mit.edu	37	9	79118070	79118070	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:79118070G>T	ENST00000442371.1	+	3	1712	c.773G>T	c.(772-774)cGg>cTg	p.R258L	GCNT1_ENST00000536223.1_Missense_Mutation_p.R258L|GCNT1_ENST00000444201.2_Missense_Mutation_p.R258L|GCNT1_ENST00000376730.4_Missense_Mutation_p.R258L	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	258	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TGGAAGAAGCGGTATGAGGTC	0.463000													24	27					6.12954e-19	9.4223e-19	0.681144	1	0
BICD2	23299	broad.mit.edu	37	9	95480175	95480175	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:95480175A>T	ENST00000356884.6	-	6	2229	c.2162T>A	c.(2161-2163)aTg>aAg	p.M721K	BICD2_ENST00000375512.3_Missense_Mutation_p.M721K	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	721	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCGGTAACCATGGCCTTCTC	0.557000													57	34					0	0	0.870114	0	0
PKD1L1	168507	broad.mit.edu	37	7	47933487	47933487	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:47933487C>A	ENST00000289672.2	-	15	2491	c.2441G>T	c.(2440-2442)gGg>gTg	p.G814V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	814	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGAGTCGCCCCAGGGTCGTC	0.582000													12	15					9.31168e-06	1.03857e-05	0.435327	1	0
ZNF235	9310	broad.mit.edu	37	19	44791636	44791636	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:44791636C>G	ENST00000291182.4	-	5	2054	c.1952G>C	c.(1951-1953)gGa>gCa	p.G651A	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TGGTTTCTCTCCAGTGTGAAT	0.463000													22	94					0	0	0.681144	0	0
SMAD9	4093	broad.mit.edu	37	13	37422952	37422952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:37422952C>T	ENST00000379826.4	-	7	1607	c.1265G>A	c.(1264-1266)tGg>tAg	p.W422*	SMAD9_ENST00000399275.2_Nonsense_Mutation_p.W422*|SMAD9_ENST00000350148.5_Nonsense_Mutation_p.W385*	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	422	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CTCAGCACCCCAACCCTGAAA	0.572000													13	18					0	0	0.411799	0	0
KIF1A	547	broad.mit.edu	37	2	241725900	241725900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:241725900C>A	ENST00000498729.2	-	6	706	c.460G>T	c.(460-462)Gtc>Ttc	p.V154F	KIF1A_ENST00000320389.7_Missense_Mutation_p.V154F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	154	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGGTCACGGACGCGCTCACAG	0.652000													33	71					1.49673e-21	2.41024e-21	0.819951	1	0
EPHB2	2048	broad.mit.edu	37	1	23235559	23235559	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:23235559G>T	ENST00000400191.3	+	13	2415	c.2397G>T	c.(2395-2397)caG>caT	p.Q799H	EPHB2_ENST00000374627.1_Missense_Mutation_p.Q794H|EPHB2_ENST00000374632.3_Missense_Mutation_p.Q800H|EPHB2_ENST00000374630.3_Missense_Mutation_p.Q799H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	799	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AAGCCATCCAGTACCGGAAGT	0.602000													34	33					5.43694e-19	8.37732e-19	0.812448	1	0
VPS13C	54832	broad.mit.edu	37	15	62173140	62173140	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:62173140G>A	ENST00000261517.5	-	72	9863	c.9790C>T	c.(9790-9792)Ctc>Ttc	p.L3264F	VPS13C_ENST00000395898.3_Missense_Mutation_p.L3221F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L3221F|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.L3264F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3264					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTGAATGAGGACCATAAAA	0.338000													24	28					0	0	0.654019	0	0
LPPR4	9890	broad.mit.edu	37	1	99772487	99772487	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:99772487C>A	ENST00000370185.3	+	7	2710	c.2213C>A	c.(2212-2214)cCt>cAt	p.P738H	LPPR4_ENST00000457765.1_Missense_Mutation_p.P680H|LPPR4_ENST00000370184.1_Missense_Mutation_p.P580H	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		738							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATTCTAATCCCTGAAAGAAGC	0.488000													28	47					7.26314e-15	1.03241e-14	0.717897	1	0
GRIN2B	2904	broad.mit.edu	37	12	13716478	13716478	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:13716478G>C	ENST00000279593.3	-	13	3903	c.3694C>G	c.(3694-3696)Cag>Gag	p.Q1232E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1232					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCGAGTTCTGACCCGTCACC	0.602000													65	44					0	0	0.870114	0	0
RXFP1	59350	broad.mit.edu	37	4	159443138	159443138	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:159443138G>T	ENST00000307765.5	+	1	261	c.10G>T	c.(10-12)Ggt>Tgt	p.G4C	RXFP1_ENST00000423548.1_Missense_Mutation_p.G4C|RXFP1_ENST00000472969.1_3'UTR|RXFP1_ENST00000470033.1_Missense_Mutation_p.G4C|RXFP1_ENST00000460056.2_Intron|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000343542.5_Missense_Mutation_p.G4C	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	4						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATGACATCTGGTTCTGTCTT	0.348000													13	18					3.99206e-14	5.57751e-14	0.557998	1	0
HRNR	388697	broad.mit.edu	37	1	152193129	152193129	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:152193129C>A	ENST00000368801.2	-	3	1051	c.976G>T	c.(976-978)Ggg>Tgg	p.G326W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	326					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACCCGTGTTGGCCG	0.607000													13	84					0.000219431	0.000235766	0.457914	1	0
OR4M2	390538	broad.mit.edu	37	15	22368918	22368918	+	Missense_Mutation	SNP	C	C	T	rs140624818	byFrequency	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:22368918C>T	ENST00000332663.2	+	1	441	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GATGTTCTTGCTCACAGTGAT	0.478000													68	291					0	0	0.870114	0	0
GEN1	348654	broad.mit.edu	37	2	17946222	17946222	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:17946222A>T	ENST00000381254.2	+	4	621	c.407A>T	c.(406-408)gAa>gTa	p.E136V	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E136V	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	136	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGGGAAGCTGAAGCCATGTGT	0.473000								Homologous recombination					40	65					0	0	0.864702	0	0
DRD2	1813	broad.mit.edu	37	11	113287652	113287652	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:113287652C>A	ENST00000362072.3	-	4	809	c.465G>T	c.(463-465)atG>atT	p.M155I	DRD2_ENST00000346454.3_Missense_Mutation_p.M155I|DRD2_ENST00000538967.1_Missense_Mutation_p.M155I|DRD2_ENST00000542968.1_Missense_Mutation_p.M155I|DRD2_ENST00000535984.1_Intron|DRD2_ENST00000544518.1_Missense_Mutation_p.M154I|DRD2_ENST00000355319.2_Missense_Mutation_p.M155I	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	155					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.M155I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGATGGAGATCATGACGGTGA	0.577000													20	34					5.35356e-11	6.93208e-11	0.639603	1	0
MDM4	4194	broad.mit.edu	37	1	204506586	204506586	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:204506586G>C	ENST00000367182.3	+	6	534	c.372G>C	c.(370-372)caG>caC	p.Q124H	MDM4_ENST00000507825.2_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000391947.2_Intron|MDM4_ENST00000463049.1_Splice_Site|MDM4_ENST00000454264.2_Missense_Mutation_p.Q124H	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	124					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCTCGCACAGGATCACAGTA	0.443000			A		"""GBM, bladder, retinoblastoma"""								24	101					0	0	0.717897	0	0
OR8I2	120586	broad.mit.edu	37	11	55861458	55861458	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55861458G>T	ENST00000302124.2	+	1	706	c.675G>T	c.(673-675)ctG>ctT	p.L225L	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CAGCCATCCTGAGGATCCAGT	0.473000													92	101					4.21773e-46	8.13302e-46	0.870114	1	0
FUT10	84750	broad.mit.edu	37	8	33230147	33230147	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:33230147C>A	ENST00000327671.5	-	5	2019	c.1388G>T	c.(1387-1389)aGg>aTg	p.R463M	FUT10_ENST00000518672.1_Missense_Mutation_p.R435M|FUT10_ENST00000524021.1_Missense_Mutation_p.R435M	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	463					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GTTTTGATTCCTATCAACCAG	0.433000													22	24					6.21321e-17	9.26788e-17	0.639603	1	0
OR5H14	403273	broad.mit.edu	37	3	97868594	97868594	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:97868594G>C	ENST00000437310.1	+	1	425	c.365G>C	c.(364-366)cGc>cCc	p.R122P		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCATATGATCGCTATGTAGCC	0.398000													59	219					0	0	0.870114	0	0
AHNAK	79026	broad.mit.edu	37	11	62295024	62295024	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:62295024C>G	ENST00000378024.4	-	5	7139	c.6865G>C	c.(6865-6867)Gaa>Caa	p.E2289Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2289					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGACCTTCAAGGCTCACA	0.498000													90	146					0	0	0.870114	0	0
TPCN1	53373	broad.mit.edu	37	12	113706674	113706674	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:113706674G>T	ENST00000550785.1	+	7	1041	c.872G>T	c.(871-873)cGg>cTg	p.R291L	TPCN1_ENST00000541517.1_Missense_Mutation_p.R291L|TPCN1_ENST00000392569.4_Missense_Mutation_p.R151L|TPCN1_ENST00000335509.6_Missense_Mutation_p.R219L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	219						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.R219Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGTGGCGTCCGGCGGTAAGGC	0.627000													58	38					3.13743e-37	5.83217e-37	0.870114	1	0
GNAS	2778	broad.mit.edu	37	20	57415359	57415359	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:57415359C>A	ENST00000313949.7	+	1	587	c.198C>A	c.(196-198)aaC>aaA	p.N66K	GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.N66K|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.N66K			P63092	GNAS2_HUMAN	GNAS complex locus	66					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCCTTAACGCCCACCACC	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			16	46					6.94344e-10	8.6375e-10	0.539581	1	0
PPM1A	5494	broad.mit.edu	37	14	60749475	60749475	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:60749475G>T	ENST00000395076.4	+	2	484	c.54G>T	c.(52-54)caG>caT	p.Q18H	PPM1A_ENST00000529574.1_Missense_Mutation_p.Q18H|PPM1A_ENST00000325658.3_Missense_Mutation_p.Q18H|PPM1A_ENST00000325642.3_Missense_Mutation_p.Q91H	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	18					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CCCAGGGGCAGGGTAATGGGT	0.478000													80	148					3.48421e-20	5.48477e-20	0.870114	1	0
DCHS2	54798	broad.mit.edu	37	4	155236942	155236942	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:155236942C>A	ENST00000357232.3	-	15	3852	c.3853G>T	c.(3853-3855)Ggg>Tgg	p.G1285W		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1285	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAAACTCCCCTGGATTTTGG	0.368000													17	46					4.35082e-09	5.29161e-09	0.592651	1	0
MAP2	4133	broad.mit.edu	37	2	210518021	210518021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:210518021C>T	ENST00000360351.4	+	4	633	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MAP2_ENST00000392194.1_Nonsense_Mutation_p.R43*|MAP2_ENST00000361559.4_Nonsense_Mutation_p.R43*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.R43*|MAP2_ENST00000447185.1_Nonsense_Mutation_p.R43*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	43					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.R43*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGGACTTGTCCGAAGCGCCAA	0.527000													7	54					0	0	0.307466	0	0
GPR112	139378	broad.mit.edu	37	X	135429322	135429322	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:135429322A>G	ENST00000394143.1	+	6	3748	c.3457A>G	c.(3457-3459)Att>Gtt	p.I1153V	GPR112_ENST00000412101.1_Missense_Mutation_p.I948V|GPR112_ENST00000394141.1_Missense_Mutation_p.I948V|GPR112_ENST00000287534.4_Missense_Mutation_p.I1090V|GPR112_ENST00000370652.1_Missense_Mutation_p.I1153V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1153					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCCTGACAACATTCCTCCTGC	0.478000													12	121					0	0	0.435327	0	0
MUTYH	4595	broad.mit.edu	37	1	45798269	45798269	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:45798269T>G	ENST00000450313.1	-	8	882	c.667A>C	c.(667-669)Att>Ctt	p.I223L	MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.I195L|MUTYH_ENST00000354383.6_Missense_Mutation_p.I196L|MUTYH_ENST00000372100.5_Missense_Mutation_p.I206L|MUTYH_ENST00000372098.3_Missense_Mutation_p.I220L|MUTYH_ENST00000355498.2_Missense_Mutation_p.I195L|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000448481.1_Missense_Mutation_p.I206L|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.I195L|MUTYH_ENST00000372110.3_Missense_Mutation_p.I210L|MUTYH_ENST00000372115.3_Missense_Mutation_p.I209L	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	220					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ATAGAGGCAATGGCCCCAGCT	0.637000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				11	65					0	0	0.411799	0	0
NLRP5	126206	broad.mit.edu	37	19	56539561	56539561	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:56539561C>A	ENST00000390649.3	+	7	1962	c.1962C>A	c.(1960-1962)ggC>ggA	p.G654G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	654						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCTGCTGGGCTGTCCCGTTC	0.582000													12	51					9.31168e-06	1.03857e-05	0.435327	1	0
PHOX2B	8929	broad.mit.edu	37	4	41750410	41750410	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:41750410T>A	ENST00000226382.2	-	1	577	c.218A>T	c.(217-219)cAc>cTc	p.H73L	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	73					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						ACTGCTCTGGTGGTCCCTGAG	0.587000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	38					0	0	0.361761	0	0
DST	667	broad.mit.edu	37	6	56324944	56324944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:56324944G>A	ENST00000370754.5	-	101	22974	c.22975C>T	c.(22975-22977)Cga>Tga	p.R7659*	DST_ENST00000446842.2_Nonsense_Mutation_p.R7155*|DST_ENST00000244364.6_Nonsense_Mutation_p.R5080*|DST_ENST00000370769.4_Nonsense_Mutation_p.R7481*|DST_ENST00000361203.3_Nonsense_Mutation_p.R7370*|DST_ENST00000370788.2_Nonsense_Mutation_p.R5284*|DST_ENST00000421834.2_Nonsense_Mutation_p.R5366*|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7479					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTGTGTTCGGACTCTGGCA	0.473000													14	15					0	0	0.457914	0	0
RPL5	6125	broad.mit.edu	37	1	93300451	93300451	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:93300451G>T	ENST00000370321.3	+	4	395	c.305G>T	c.(304-306)gGc>gTc	p.G102V		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	102					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TATTGTACTGGCCTGCTGCTG	0.448000													48	202					3.40343e-31	6.11247e-31	0.870114	1	0
FRAS1	80144	broad.mit.edu	37	4	79240021	79240021	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:79240021G>T	ENST00000264895.6	+	18	2458	c.2018G>T	c.(2017-2019)tGt>tTt	p.C673F	FRAS1_ENST00000325942.6_Missense_Mutation_p.C673F|FRAS1_ENST00000264899.6_Missense_Mutation_p.C673F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	673					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTACTGGGTGTAAGAAGCCA	0.517000													38	56					2.24893e-16	3.3168e-16	0.847076	1	0
DOCK4	9732	broad.mit.edu	37	7	111512348	111512348	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:111512348C>A	ENST00000428084.1	-	19	2175	c.1903G>T	c.(1903-1905)Ggg>Tgg	p.G635W	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.G635W			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	635					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACTTTAGACCCATATTTTTGG	0.318000													5	8					0.014758	0.0150571	0.184627	1	0
NID1	4811	broad.mit.edu	37	1	236157154	236157154	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:236157154C>A	ENST00000264187.6	-	13	2628	c.2546G>T	c.(2545-2547)tGc>tTc	p.C849F	NID1_ENST00000366595.3_Missense_Mutation_p.C716F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	849	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CTCGTGCTGGCACCGGGTTTT	0.637000													8	19					7.48243e-07	8.56943e-07	0.335167	1	0
TMBIM1	64114	broad.mit.edu	37	2	219146817	219146817	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:219146817C>G	ENST00000444881.1	-	3	773	c.48G>C	c.(46-48)ctG>ctC	p.L16L	TMBIM1_ENST00000445635.1_Intron|TMBIM1_ENST00000396809.2_Silent_p.L16L|PNKD_ENST00000273077.4_Intron|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000258412.3_Silent_p.L16L			Q969X1	TMBI1_HUMAN	transmembrane BAX inhibitor motif containing 1	16						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTGGGTACAGGGGGTTGC	0.667000													4	20					0	0	0.184627	0	0
MUC16	94025	broad.mit.edu	37	19	9077375	9077375	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9077375G>T	ENST00000397910.4	-	3	10274	c.10071C>A	c.(10069-10071)gaC>gaA	p.D3357E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3358	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACATGTGTGTCCCCTGTGG	0.473000													38	118					6.61955e-31	1.18668e-30	0.870114	1	0
A2ML1	144568	broad.mit.edu	37	12	9002313	9002313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:9002313G>T	ENST00000299698.7	+	17	2257	c.2077G>T	c.(2077-2079)Gat>Tat	p.D693Y	A2ML1_ENST00000539547.1_Missense_Mutation_p.D202Y	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	537						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAAGCCAGTAGATTGCAGTCA	0.468000													20	70					5.45727e-16	7.96477e-16	0.729181	1	0
UBR5	51366	broad.mit.edu	37	8	103284883	103284883	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:103284883C>A	ENST00000520539.1	-	48	7453	c.6847G>T	c.(6847-6849)Gat>Tat	p.D2283Y	UBR5_ENST00000521922.1_Missense_Mutation_p.D2277Y|UBR5_ENST00000518205.1_Missense_Mutation_p.D12Y|UBR5_ENST00000220959.4_Missense_Mutation_p.D2283Y	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2283					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCTGGCTCATCCTTAAATGTG	0.408000													11	87					2.32078e-09	2.85088e-09	0.479597	1	0
MYO18A	399687	broad.mit.edu	37	17	27448161	27448161	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:27448161G>A	ENST00000527372.1	-	6	1620	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	MYO18A_ENST00000354329.4_Silent_p.T480T|MYO18A_ENST00000533112.1_Silent_p.T480T|MYO18A_ENST00000531253.1_Silent_p.T480T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	480	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCTGTATGCGGTCTGGGCCA	0.587000													6	29					0	0	0.217242	0	0
GALNT13	114805	broad.mit.edu	37	2	155098697	155098697	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:155098697G>C	ENST00000392825.3	+	5	1033	c.466G>C	c.(466-468)Gcc>Ccc	p.A156P	GALNT13_ENST00000409237.1_Missense_Mutation_p.A156P	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	156	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GGTAGATGATGCCAGTGAAAG	0.338000													11	62					0	0	0.411799	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384999	133384999	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:133384999C>T	ENST00000204726.3	-	5	1214	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	GOLGA3_ENST00000545875.1_Missense_Mutation_p.R219Q|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R219Q|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R219Q|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R219Q	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	219	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTTAGGCCCCCGAGGGACACT	0.512000													149	71					0	0	0.870114	0	0
OR10G7	390265	broad.mit.edu	37	11	123909651	123909651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:123909651C>A	ENST00000330487.5	-	1	66	c.58G>T	c.(58-60)Ggg>Tgg	p.G20W		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	20			G -> A (in dbSNP:rs3894199).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G20W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCGTCCAGCCCTGGGGCATGG	0.557000													14	107					6.2361e-21	9.91212e-21	0.834066	1	0
ASAP1	50807	broad.mit.edu	37	8	131130772	131130772	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:131130772C>T	ENST00000357668.1	-	18	1784	c.1757G>A	c.(1756-1758)gGg>gAg	p.G586E	ASAP1_ENST00000518721.1_Missense_Mutation_p.G586E			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	586					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TAGCTCTACCCCTTCTGCATA	0.403000													78	61					0	0	0.870114	0	0
CWH43	80157	broad.mit.edu	37	4	48996702	48996702	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:48996702C>A	ENST00000226432.4	+	5	761	c.578C>A	c.(577-579)cCc>cAc	p.P193H	CWH43_ENST00000513409.1_Missense_Mutation_p.P166H	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	193					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCCTCTAGACCCAACTGGCTG	0.478000													24	111					9.39395e-14	1.29679e-13	0.706142	1	0
AGO1	26523	broad.mit.edu	37	1	36367831	36367831	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:36367831G>T	ENST00000373204.4	+	11	1503	c.1290G>T	c.(1288-1290)caG>caT	p.Q430H	AGO1_ENST00000373206.1_Missense_Mutation_p.Q355H	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CACCCAATCAGGGTGTCTGGG	0.582000													58	184					1.42676e-28	2.50962e-28	0.870114	1	0
SEL1L3	23231	broad.mit.edu	37	4	25750127	25750127	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:25750127T>A	ENST00000399878.3	-	24	3441	c.3319A>T	c.(3319-3321)Agt>Tgt	p.S1107C	SEL1L3_ENST00000502949.1_Missense_Mutation_p.S954C|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S1072C	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	1107						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACAGCTGGACTTGCAGTGGAC	0.562000													8	21					0	0	0.361761	0	0
MYO3B	140469	broad.mit.edu	37	2	171400485	171400485	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:171400485C>A	ENST00000334231.6	+	32	3747	c.3747C>A	c.(3745-3747)gcC>gcA	p.A1249A	MYO3B_ENST00000409044.3_Silent_p.A1213A|MYO3B_ENST00000408978.4_Silent_p.A1240A|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1240					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCTGGGGAGCCCCTCAAAAGC	0.463000													24	36					2.49675e-24	4.19257e-24	0.717897	1	0
B3GAT2	135152	broad.mit.edu	37	6	71603883	71603883	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:71603883A>T	ENST00000230053.6	-	2	1292	c.684T>A	c.(682-684)gtT>gtA	p.V228V		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	228					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGTACCAGCCAACAACTTTGC	0.567000													10	88					0	0	0.361761	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431207	56431207	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:56431207G>T	ENST00000302969.2	+	1	70	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TATCTTCATGGGCATCACCCA	0.403000													13	307					1.5739e-10	2.01537e-10	0.500413	1	0
FCGR3A	2214	broad.mit.edu	37	1	161514662	161514662	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:161514662G>T	ENST00000367969.3	-	4	697	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	FCGR3A_ENST00000443193.1_Missense_Mutation_p.L171M|FCGR3A_ENST00000436743.1_Missense_Mutation_p.L136M|FCGR3A_ENST00000540048.1_Missense_Mutation_p.L136M	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	136	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCTTATGCAGAGCAGTGTTC	0.483000													8	41					0.00621372	0.00641975	0.335167	1	0
UHMK1	127933	broad.mit.edu	37	1	162473556	162473556	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:162473556G>T	ENST00000489294.1	+	4	924	c.766G>T	c.(766-768)Gct>Tct	p.A256S	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.A256S|UHMK1_ENST00000545294.1_Missense_Mutation_p.A182S	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	256	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AAACAGTTCTGCTATTATTGA	0.363000													8	61					0.00448238	0.00465059	0.307466	1	0
CAPN5	726	broad.mit.edu	37	11	76834850	76834850	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:76834850G>T	ENST00000278559.3	+	13	2046	c.1857G>T	c.(1855-1857)caG>caT	p.Q619H	CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000529629.1_Missense_Mutation_p.Q619H|CAPN5_ENST00000456580.2_Missense_Mutation_p.Q659H	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	619	C2.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ATAGCCGGCAGCCCAGCAACC	0.617000													41	110					1.23713e-20	1.95845e-20	0.870114	1	0
NAV3	89795	broad.mit.edu	37	12	78531013	78531013	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:78531013A>C	ENST00000397909.2	+	19	4671	c.4498A>C	c.(4498-4500)Aac>Cac	p.N1500H	NAV3_ENST00000228327.6_Missense_Mutation_p.N1500H|NAV3_ENST00000536525.2_Missense_Mutation_p.N1500H|NAV3_ENST00000266692.7_Missense_Mutation_p.N1323H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1500	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GATGCGCTCAAACAGCATCCC	0.483000										HNSCC(70;0.22)			88	40					0	0	0.870114	0	0
TMEM25	84866	broad.mit.edu	37	11	118403765	118403765	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:118403765G>T	ENST00000524725.1	+	3	928	c.516G>T	c.(514-516)gtG>gtT	p.V172V	TMEM25_ENST00000359862.4_Silent_p.V172V|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000313236.5_Silent_p.V172V|TMEM25_ENST00000442938.2_Silent_p.V172V|TMEM25_ENST00000411589.2_Silent_p.V172V|TMEM25_ENST00000354064.7_Silent_p.V68V|TMEM25_ENST00000354284.4_Silent_p.V172V|TMEM25_ENST00000533102.1_Silent_p.V172V|TMEM25_ENST00000544878.1_Intron			Q86YD3	TMM25_HUMAN	transmembrane protein 25	172						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATGGGCCAGTGACTGTCAACA	0.632000													23	53					4.72057e-08	5.57886e-08	0.667858	1	0
CACNA2D1	781	broad.mit.edu	37	7	81612629	81612629	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:81612629C>A	ENST00000356860.3	-	23	2233		c.e23+1		CACNA2D1_ENST00000356253.5_Intron	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1							voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAAATACTTGCCCTTCATTTT	0.353000													10	30					9.31168e-06	1.03857e-05	0.435327	1	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42139871	42139871	+	Missense_Mutation	SNP	C	C	T	rs144774902		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:42139871C>T	ENST00000382448.4	+	25	2861	c.2852C>T	c.(2851-2853)gCg>gTg	p.A951V	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.A720V|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R889W|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.A720V	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		720					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CCCGAGGAGGCGGCAGCTGGG	0.627000													27	39					0	0	0.740014	0	0
OR6S1	341799	broad.mit.edu	37	14	21109395	21109395	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:21109395C>A	ENST00000320704.3	-	1	455	c.456G>T	c.(454-456)gtG>gtT	p.V152V		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CGAGTCCCCCCACCCAGCAGG	0.602000													18	31					5.26018e-13	7.12611e-13	0.608945	1	0
TRIP12	9320	broad.mit.edu	37	2	230633332	230633332	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:230633332C>A	ENST00000283943.5	-	40	5960	c.5782_splice	c.e40+1	p.G1928_splice	TRIP12_ENST00000389045.3_Splice_Site_p.G1658_splice|TRIP12_ENST00000389044.4_Splice_Site_p.G1976_splice	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1928	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCGTACCCACCTCCAACAGGC	0.423000													24	48					8.16721e-17	1.21641e-16	0.750413	1	0
BRD4	23476	broad.mit.edu	37	19	15367952	15367952	+	Silent	SNP	C	C	A	rs147887666		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:15367952C>A	ENST00000263377.2	-	8	1595	c.1374G>T	c.(1372-1374)ccG>ccT	p.P458P	BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Silent_p.P458P|BRD4_ENST00000360016.5_Silent_p.P458P	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	458					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CAGGCTCGTCCGGCATCTTGG	0.647000			T	C15orf55	lethal midline carcinoma of young people								4	16					0.217242	0.218355	0.217242	1	0
SNX29	92017	broad.mit.edu	37	16	12497352	12497352	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:12497352G>T	ENST00000566228.1	+	18	2072	c.2003G>T	c.(2002-2004)cGg>cTg	p.R668L	SNX29_ENST00000323433.4_Missense_Mutation_p.R283L|SNX29_ENST00000306030.3_Missense_Mutation_p.R283L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	283					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GTGTTTCTCCGGGGCAAAGCA	0.478000													8	33					9.70103e-10	1.20298e-09	0.361761	1	0
PDPN	10630	broad.mit.edu	37	1	13910471	13910471	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:13910471C>A	ENST00000294489.6	+	1	512	c.171C>A	c.(169-171)ttC>ttA	p.F57L	PDPN_ENST00000376057.4_Missense_Mutation_p.F57L			Q86YL7	PDPN_HUMAN	podoplanin	0				E -> K (in Ref. 8; BAC11557).	cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TTTTAATTTTCCCCCAGCTCA	0.647000													9	30					0.000274275	0.000292451	0.307466	1	0
RASGEF1A	221002	broad.mit.edu	37	10	43701430	43701430	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:43701430G>T	ENST00000395809.1	-	2	2641	c.135C>A	c.(133-135)ctC>ctA	p.L45L	RASGEF1A_ENST00000395810.1_Silent_p.L45L|RASGEF1A_ENST00000374459.1_Silent_p.L53L			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	45	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACCCAGAGATGAGGTGTCCAT	0.637000													5	40					2.7689e-08	3.29614e-08	0.248553	1	0
ITIH4	3700	broad.mit.edu	37	3	52852080	52852080	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:52852080C>A	ENST00000266041.4	-	20	2380	c.2284G>T	c.(2284-2286)Gac>Tac	p.D762Y	ITIH4_ENST00000346281.5_Missense_Mutation_p.D746Y|ITIH4_ENST00000406595.1_Missense_Mutation_p.D732Y|ITIH4_ENST00000485816.1_Missense_Mutation_p.D767Y	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	762					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCTCAGGGTCTGAGAGCAGG	0.637000													88	51					3.33393e-45	6.40989e-45	0.870114	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64666991	64666991	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:64666991G>T	ENST00000498707.1	-	3	907	c.565C>A	c.(565-567)Cag>Aag	p.Q189K	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Q189K|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q189K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	189					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCATAGACTGTAGTGGTTCA	0.468000													27	21					3.57733e-08	4.24052e-08	0.740014	1	0
GTPBP1	9567	broad.mit.edu	37	22	39104911	39104911	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:39104911G>T	ENST00000216044.5	+	2	487	c.254G>T	c.(253-255)aGg>aTg	p.R85M		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	85					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ATGTGGGAGAGGATGGACGAG	0.468000													17	107					1.55795e-14	2.19544e-14	0.608945	1	0
FAM181A	90050	broad.mit.edu	37	14	94395112	94395112	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:94395112G>A	ENST00000267594.5	+	3	974	c.667G>A	c.(667-669)Gag>Aag	p.E223K	FAM181A_ENST00000556222.1_Missense_Mutation_p.E161K|FAM181A_ENST00000557719.1_Missense_Mutation_p.E161K|FAM181A_ENST00000557000.2_Missense_Mutation_p.E161K	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	223										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GGGCCCCAGGGAGGGACCTCC	0.612000													9	26					0	0	0.387290	0	0
DDX31	64794	broad.mit.edu	37	9	135523917	135523917	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:135523917G>T	ENST00000372159.3	-	10	1228	c.1077C>A	c.(1075-1077)atC>atA	p.I359I	DDX31_ENST00000438527.3_Silent_p.I230I|DDX31_ENST00000310532.2_Silent_p.I359I|DDX31_ENST00000372153.1_Silent_p.I359I	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	359	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTGAGATAAGGATATTTATTC	0.388000													5	72					0.00116845	0.00122524	0.217242	1	0
MYH2	4620	broad.mit.edu	37	17	10428934	10428934	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:10428934C>A	ENST00000245503.5	-	32	4756		c.e32-1		CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Splice_Site|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGCCAGGATCTGAAAAACCA	0.463000													12	16					1.5842e-08	1.89621e-08	0.435327	1	0
PKNOX2	63876	broad.mit.edu	37	11	125237760	125237760	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:125237760C>A	ENST00000298282.9	+	5	377	c.106C>A	c.(106-108)Cca>Aca	p.P36T	PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	36						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AACCGCCCAGCCACCCTCCAA	0.662000													20	63					3.01185e-09	3.68365e-09	0.667858	1	0
ABHD4	63874	broad.mit.edu	37	14	23072417	23072417	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:23072417G>T	ENST00000428304.2	+	3	305	c.235G>T	c.(235-237)Ggc>Tgc	p.G79C	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	79					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TGGTTTTGGGGGCGGCGTGGG	0.587000													16	33					1.99824e-07	2.32792e-07	0.520397	1	0
SERGEF	26297	broad.mit.edu	37	11	17981161	17981161	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:17981161C>A	ENST00000265965.5	-	9	1018	c.867G>T	c.(865-867)tgG>tgT	p.W289C	SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	289					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGCTCGGCCCCAGGTAAACA	0.423000													27	30					1.30897e-18	2.0043e-18	0.740014	1	0
HRH1	3269	broad.mit.edu	37	3	11300789	11300789	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:11300789G>T	ENST00000397056.1	+	3	257	c.66G>T	c.(64-66)atG>atT	p.M22I	HRH1_ENST00000431010.2_Missense_Mutation_p.M22I|HRH1_ENST00000438284.2_Missense_Mutation_p.M22I	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	22					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AGACCACTATGGCCAGCCCCC	0.577000													49	26					6.27289e-28	1.09552e-27	0.870114	1	0
PLA2G5	5322	broad.mit.edu	37	1	20412692	20412692	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:20412692C>A	ENST00000375108.3	+	3	425	c.157C>A	c.(157-159)Cga>Aga	p.R53R	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	53					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CTGGGGCGGCCGAGGAACCCC	0.532000													19	49					7.41877e-09	8.92425e-09	0.608945	1	0
ESRRB	2103	broad.mit.edu	37	14	76964746	76964746	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:76964746A>G	ENST00000380887.2	+	7	1319	c.1247A>G	c.(1246-1248)cAg>cGg	p.Q416R	RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000509242.1_Missense_Mutation_p.Q416R|ESRRB_ENST00000261532.7_Missense_Mutation_p.Q416R|ESRRB_ENST00000556177.1_Missense_Mutation_p.Q416R			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	416						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GTCAAACTGCAGGGCAAAGTG	0.617000													6	19					0	0	0.248553	0	0
OR10G9	219870	broad.mit.edu	37	11	123893777	123893777	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:123893777G>T	ENST00000375024.1	+	1	58	c.58G>T	c.(58-60)Ggg>Tgg	p.G20W		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G20W(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCATGCCCCAGGGCTGGACGC	0.572000													21	341					2.65835e-16	3.90302e-16	0.717897	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254147	39254147	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:39254147A>T	ENST00000333822.4	-	1	246	c.190T>A	c.(190-192)Tgc>Agc	p.C64S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	64	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GGGCGACAGCAGGTGGGCTGG	0.652000													7	139					0	0	0.575678	0	0
PRKCI	5584	broad.mit.edu	37	3	170016830	170016830	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:170016830G>T	ENST00000295797.4	+	17	1940	c.1635G>T	c.(1633-1635)ggG>ggT	p.G545G		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	545	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATATTTCTGGGGAATTTGGTT	0.373000													23	67					3.80469e-20	5.98447e-20	0.740014	1	0
MAP4K3	8491	broad.mit.edu	37	2	39492365	39492365	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:39492365C>A	ENST00000263881.3	-	28	2439	c.2115G>T	c.(2113-2115)atG>atT	p.M705I	MAP4K3_ENST00000536018.1_Missense_Mutation_p.M258I|MAP4K3_ENST00000437545.1_Missense_Mutation_p.M621I|MAP4K3_ENST00000341681.5_Missense_Mutation_p.M684I	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	705	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAAATTTCTGCATTGGTTCAA	0.313000													59	106					9.65139e-37	1.78902e-36	0.870114	1	0
GJB7	375519	broad.mit.edu	37	6	87994541	87994541	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:87994541G>T	ENST00000525899.1	-	3	435	c.90C>A	c.(88-90)gtC>gtA	p.V30V	GJB7_ENST00000296882.3_Silent_p.V30V	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	30					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GCAAACGGAAGACAAACACGA	0.483000													52	56					3.84483e-29	6.79335e-29	0.870114	1	0
ATXN2L	11273	broad.mit.edu	37	16	28845713	28845713	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:28845713A>T	ENST00000336783.4	+	17	2389	c.2222A>T	c.(2221-2223)cAg>cTg	p.Q741L	ATXN2L_ENST00000570200.1_Missense_Mutation_p.Q741L|ATXN2L_ENST00000565845.1_3'UTR|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.Q747L|ATXN2L_ENST00000395547.2_Missense_Mutation_p.Q741L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.Q741L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.Q741L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.Q741L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	741						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGGGCAGCAGGGCAAGTAC	0.602000													13	115					0	0	0.435327	0	0
CALB1	793	broad.mit.edu	37	8	91078188	91078188	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:91078188G>T	ENST00000265431.3	-	6	569	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	CALB1_ENST00000518457.1_Missense_Mutation_p.L73M	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	130	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTTTCTAGCAGGTCCTTTAGA	0.343000													5	44					5.9392e-07	6.82591e-07	0.217242	1	0
SRCAP	10847	broad.mit.edu	37	16	30721316	30721316	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:30721316A>G	ENST00000262518.4	+	8	1386	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	SRCAP_ENST00000395059.2_Missense_Mutation_p.E334G|SRCAP_ENST00000344771.4_Missense_Mutation_p.E334G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	334	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCACTGGAAGAGCTGCTCCGT	0.552000													24	54					0	0	0.667858	0	0
OR4C46	119749	broad.mit.edu	37	11	51515578	51515578	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:51515578C>T	ENST00000328188.1	+	1	297	c.297C>T	c.(295-297)gtC>gtT	p.V99V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGACTCAAGTCTTTGGAGAAC	0.453000													5	192					0	0	0.184627	0	0
OR2T4	127074	broad.mit.edu	37	1	248525168	248525168	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:248525168A>T	ENST00000366475.1	+	1	286	c.286A>T	c.(286-288)Agt>Tgt	p.S96C		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTTTCATCAGTCAATTGTC	0.493000													53	236					0	0	0.870114	0	0
NAE1	8883	broad.mit.edu	37	16	66842948	66842948	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:66842948C>T	ENST00000379463.2	-	17	1355	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	NAE1_ENST00000359087.4_Missense_Mutation_p.R397K|NAE1_ENST00000394074.2_Missense_Mutation_p.R305K|NAE1_ENST00000290810.3_Missense_Mutation_p.R394K	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	394					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	GGATCGACATCTTACCACTCG	0.343000													41	64					0	0	0.870114	0	0
PAOX	196743	broad.mit.edu	37	10	135203147	135203147	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:135203147G>T	ENST00000278060.5	+	6	1371	c.1288G>T	c.(1288-1290)Gcc>Tcc	p.A430S	PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	568					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CTGGCACAGCGCCCCGTACAC	0.677000													29	22					6.00712e-18	9.10578e-18	0.760397	1	0
LRRC7	57554	broad.mit.edu	37	1	70397207	70397207	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:70397207C>G	ENST00000310961.5	+	9	984	c.566C>G	c.(565-567)gCc>gGc	p.A189G	LRRC7_ENST00000035383.5_Missense_Mutation_p.A184G|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	184						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CACAAACTGGCCCAGTTGGAA	0.403000													8	47					0	0	0.411799	0	0
VRTN	55237	broad.mit.edu	37	14	74825188	74825188	+	Missense_Mutation	SNP	G	G	T	rs140697985	byFrequency	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:74825188G>T	ENST00000256362.4	+	2	1943	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	568					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTTGGGCAAAGGGGGGCAGGA	0.612000													34	62					4.65686e-17	6.96755e-17	0.788014	1	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007737	32007737	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:32007737G>T	ENST00000330798.2	+	1	183	c.155G>T	c.(154-156)cGc>cTc	p.R52L		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	52						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCTGCTGCCGCCCATCTTGC	0.547000													67	49					2.43516e-34	4.47168e-34	0.870114	1	0
DENND2A	27147	broad.mit.edu	37	7	140221874	140221874	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:140221874C>A	ENST00000275884.6	-	17	3109	c.2692G>T	c.(2692-2694)Gtg>Ttg	p.V898L	DENND2A_ENST00000537639.1_Missense_Mutation_p.V898L|DENND2A_ENST00000496613.1_Missense_Mutation_p.V898L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	898	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCAGACACCACCTCGTTCAAG	0.587000													42	45					2.69774e-35	4.9678e-35	0.870114	1	0
OBSCN	84033	broad.mit.edu	37	1	228476023	228476023	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:228476023G>T	ENST00000570156.2	+	42	11434	c.11360G>T	c.(11359-11361)aGg>aTg	p.R3787M	OBSCN_ENST00000422127.1_Missense_Mutation_p.R3358M|OBSCN_ENST00000366709.4_Missense_Mutation_p.R477M|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3358M|OBSCN_ENST00000366707.4_Missense_Mutation_p.R477M|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2205M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2823	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCACCATCAGGCGTAAGACC	0.572000													9	36					7.48243e-07	8.56943e-07	0.335167	1	0
ZFR2	23217	broad.mit.edu	37	19	3813841	3813841	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:3813841C>A	ENST00000262961.4	-	14	2229	c.2219G>T	c.(2218-2220)cGg>cTg	p.R740L		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	740						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGGTCCTCCCGCATCAGAGG	0.637000													21	84					2.65835e-16	3.90302e-16	0.717897	1	0
EDIL3	10085	broad.mit.edu	37	5	83433089	83433089	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:83433089C>A	ENST00000296591.5	-	5	857	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	EDIL3_ENST00000380138.3_Missense_Mutation_p.G137C	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	147	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATAAATTCGCCTGGGCACTCA	0.393000													50	59					1.53716e-24	2.5923e-24	0.870114	1	0
SPTBN4	57731	broad.mit.edu	37	19	41000860	41000860	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:41000860T>G	ENST00000352632.3	+	6	730	c.644T>G	c.(643-645)tTc>tGc	p.F215C	SPTBN4_ENST00000338932.3_Missense_Mutation_p.F215C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.F215C|SPTBN4_ENST00000344104.3_Missense_Mutation_p.F215C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.F215C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	215	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCTTGGCCTTCAATGCCCTC	0.572000													12	60					0	0	0.479597	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797439	34797439	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:34797439G>A	ENST00000338074.2	+	15	1859	c.1698G>A	c.(1696-1698)gaG>gaA	p.E566E	EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000441639.1_Silent_p.E492E|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Silent_p.E566E|EPB41L1_ENST00000373950.2_Silent_p.E457E|EPB41L1_ENST00000202028.5_Silent_p.E492E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	566					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTCCGAGGAGAAAGTCAAAC	0.567000													14	26					0	0	0.500413	0	0
KDM5C	8242	broad.mit.edu	37	X	53246992	53246992	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:53246992C>A	ENST00000452825.3	-	2	839	c.307G>T	c.(307-309)Gga>Tga	p.G103*	KDM5C_ENST00000375401.3_Nonsense_Mutation_p.G170*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.G170*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.G170*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.G129*	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	170	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGTTGGCTCCAGACTGGTAC	0.498000			"""N, F, S"""		clear cell renal carcinoma								13	13					9.16793e-09	1.10004e-08	0.520397	1	0
OR52K1	390036	broad.mit.edu	37	11	4510542	4510542	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:4510542C>A	ENST00000307632.3	+	1	434	c.412C>A	c.(412-414)Ctg>Atg	p.L138M		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACGACGGTCCTGACTGGGTC	0.572000													27	38					6.00712e-18	9.10578e-18	0.760397	1	0
SYTL2	54843	broad.mit.edu	37	11	85436501	85436501	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:85436501C>G	ENST00000359152.5	-	1	2570	c.2571G>C	c.(2569-2571)caG>caC	p.Q857H	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.Q333H|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.Q333H	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	365	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTGCAGCCATCTGAATCAAAT	0.458000													43	111					0	0	0.870114	0	0
PIP	5304	broad.mit.edu	37	7	142832330	142832330	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:142832330C>A	ENST00000291009.3	+	2	179	c.139C>A	c.(139-141)Cgt>Agt	p.R47S		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	47						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CAAGTCAGTACGTCCAAATGA	0.423000													23	37					1.39806e-14	1.97296e-14	0.729181	1	0
FHL5	9457	broad.mit.edu	37	6	97052653	97052653	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:97052653C>T	ENST00000326771.2	+	4	567	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	FHL5_ENST00000541107.1_Missense_Mutation_p.H63Y	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	63	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCGGCACTGGCATGAAGGATG	0.413000													29	28					0	0	0.796494	0	0
MRPS27	23107	broad.mit.edu	37	5	71519590	71519590	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:71519590C>A	ENST00000261413.5	-	10	964	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W	MRPS27_ENST00000513900.1_Missense_Mutation_p.G323W|MRPS27_ENST00000457646.4_Missense_Mutation_p.G253W	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	309						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTTTCTGACCCCTGGTTGTCT	0.502000													34	37					6.97489e-18	1.05321e-17	0.804634	1	0
TBC1D20	128637	broad.mit.edu	37	20	422529	422529	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:422529C>G	ENST00000354200.4	-	4	643	c.496G>C	c.(496-498)Gta>Cta	p.V166L	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	166	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AATTTTTCTACCAGGGATGTT	0.542000													24	74					0	0	0.693898	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121693973	121693973	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:121693973C>A	ENST00000393386.2	+	26	6673	c.6262C>A	c.(6262-6264)Cag>Aag	p.Q2088K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q1221K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2088	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGGCTATTACCAGAGCAATGA	0.403000													47	168					2.12129e-23	3.51994e-23	0.870114	1	0
R3HDM1	23518	broad.mit.edu	37	2	136396346	136396346	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:136396346C>T	ENST00000264160.4	+	13	1349	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	R3HDM1_ENST00000329971.3_Missense_Mutation_p.R283C|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R271C|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R327C|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R283C	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	327							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAGCAGAGGCGCCAGATATT	0.353000													7	54					0	0	0.335167	0	0
PDE11A	50940	broad.mit.edu	37	2	178936929	178936929	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:178936929T>A	ENST00000286063.5	-	1	553	c.236A>T	c.(235-237)aAt>aTt	p.N79I	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	79					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GGCAGAGCCATTTGGTCCAGT	0.662000									Primary Pigmented Nodular Adrenocortical Disease, Familial				10	19					0	0	0.387290	0	0
IGLV7-46	28775	broad.mit.edu	37	22	22724374	22724374	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:22724374C>A	ENST00000390295.2	+	0	304																											TCCTTGGGGGCAAAGCTGCCC	0.567000													9	30					0.00621372	0.00641975	0.335167	1	0
ACACB	32	broad.mit.edu	37	12	109700163	109700163	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:109700163G>T	ENST00000338432.7	+	49	6795	c.6674_splice	c.e49-1	p.G2226_splice	ACACB_ENST00000377854.5_Splice_Site_p.G2156_splice|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Splice_Site_p.G2226_splice			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2226	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCTTTTAAGGGGTGGTGTTCT	0.502000													25	18					5.60225e-13	7.58429e-13	0.740014	1	0
PTPRN	5798	broad.mit.edu	37	2	220164859	220164859	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:220164859G>C	ENST00000295718.2	-	9	1524	c.1284C>G	c.(1282-1284)gtC>gtG	p.V428V	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.V428V|PTPRN_ENST00000423636.2_Silent_p.V338V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	428					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCTCAGAGGAGACAGGGCTTG	0.637000													62	93					0	0	0.870114	0	0
LRRC18	474354	broad.mit.edu	37	10	50121474	50121474	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:50121474G>T	ENST00000374160.3	-	1	803	c.727C>A	c.(727-729)Ccc>Acc	p.P243T	WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.P243T|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	243						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ATGGAATTGGGTGAGATCAGA	0.537000													80	61					4.05715e-38	7.59216e-38	0.870114	1	0
MGAT4C	25834	broad.mit.edu	37	12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:86374058C>T	ENST00000604798.1	-	8	1650	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398000													4	114					0	0	0.150653	0	0
THSD7B	80731	broad.mit.edu	37	2	138169364	138169364	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:138169364G>A	ENST00000409968.1	+	14	3059	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E930K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E961K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGAATGTGGAGAAGGCCTGCG	0.512000													7	89					0	0	0.248553	0	0
GBP7	388646	broad.mit.edu	37	1	89616195	89616195	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:89616195T>A	ENST00000294671.2	-	6	827	c.689A>T	c.(688-690)aAa>aTa	p.K230I		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	230						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GCACTTCTGTTTTGGAAAGAA	0.403000													40	57					0	0	0.864702	0	0
C7orf10	79783	broad.mit.edu	37	7	40314173	40314173	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:40314173A>T	ENST00000309930.5	+	8	683	c.659A>T	c.(658-660)tAt>tTt	p.Y220F	C7orf10_ENST00000401647.2_Intron|C7orf10_ENST00000335693.4_Missense_Mutation_p.Y220F	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	220							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CTGTATGCATATGGAGCTATT	0.403000													17	66					0	0	0.520397	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635280	118635280	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:118635280C>A	ENST00000360388.4	+	8	1293	c.1092C>A	c.(1090-1092)ccC>ccA	p.P364P		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	364					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCCAGGACCCCCGAGTGTATA	0.527000													107	74					1.12488e-73	2.24177e-73	0.870114	1	0
RADIL	55698	broad.mit.edu	37	7	4917565	4917565	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:4917565C>A	ENST00000399583.3	-	2	393	c.206G>T	c.(205-207)gGg>gTg	p.G69V	RADIL_ENST00000536091.1_Missense_Mutation_p.G69V	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	69	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GACACTGTCCCCAAACACCTT	0.672000													5	32					1.12685e-05	1.25114e-05	0.307466	1	0
OR6M1	390261	broad.mit.edu	37	11	123676224	123676224	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:123676224C>A	ENST00000309154.2	-	1	871	c.834G>T	c.(832-834)gtG>gtT	p.V278V		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GGAGAGGGGTCACCACTGTGA	0.478000													37	92					4.44401e-20	6.95107e-20	0.853193	1	0
OR5L2	26338	broad.mit.edu	37	11	55594985	55594985	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55594985C>A	ENST00000378397.1	+	1	291	c.291C>A	c.(289-291)tgC>tgA	p.C97*		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97C(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTAGGGTGCATGGTGCAAT	0.478000										HNSCC(27;0.073)			56	200					3.05417e-18	4.66926e-18	0.870114	1	0
RIMBP2	23504	broad.mit.edu	37	12	130919330	130919330	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:130919330C>G	ENST00000261655.4	-	11	2314	c.2151G>C	c.(2149-2151)agG>agC	p.R717S	RIMBP2_ENST00000535703.1_Missense_Mutation_p.R625S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.R625S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	717						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGCGCCCCTCCTCTTGAAGT	0.632000													24	127					0	0	0.654019	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331373	140331373	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:140331373T>A	ENST00000371506.2	-	5	686	c.503A>T	c.(502-504)gAa>gTa	p.E168V	ENTPD8_ENST00000344119.2_Missense_Mutation_p.E168V|ENTPD8_ENST00000472938.1_Missense_Mutation_p.E168V	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	168						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		AAAGGCACCTTCGGCCTGCCC	0.657000													14	90					0	0	0.539581	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425335	74425335	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:74425335G>T	ENST00000429990.1	+	7	785	c.689G>T	c.(688-690)tGc>tTc	p.C230F						nuclear pore complex interacting protein family, member B15																		GGATTGCCCTGCTGGCCCTAC	0.493000													27	57					1.36615e-20	2.15921e-20	0.769981	1	0
KIF1A	547	broad.mit.edu	37	2	241713676	241713676	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:241713676C>A	ENST00000498729.2	-	12	1207	c.961G>T	c.(961-963)Ggt>Tgt	p.G321C	KIF1A_ENST00000320389.7_Missense_Mutation_p.G321C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	321	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTTGAGTTACCGCCTGTGGGA	0.577000													12	25					1.49906e-05	1.65877e-05	0.457914	1	0
SZT2	23334	broad.mit.edu	37	1	43903514	43903514	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:43903514G>T	ENST00000562955.1	+	45	6278	c.6278G>T	c.(6277-6279)cGt>cTt	p.R2093L	SZT2_ENST00000372442.1_Missense_Mutation_p.R1251L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2150						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GATGCTGCTCGTCCTGTGGGC	0.587000													28	148					2.61193e-14	3.65969e-14	0.740014	1	0
LCMT1	51451	broad.mit.edu	37	16	25143810	25143810	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:25143810G>T	ENST00000399069.3	+	3	448	c.293G>T	c.(292-294)gGg>gTg	p.G98V	LCMT1_ENST00000380966.4_Missense_Mutation_p.G98V	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	98							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GTCAACCTTGGGGCAGGCATG	0.438000													19	32					1.96292e-10	2.49399e-10	0.592651	1	0
DKK2	27123	broad.mit.edu	37	4	107846966	107846966	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:107846966G>T	ENST00000285311.3	-	2	1068	c.363C>A	c.(361-363)cgC>cgA	p.R121R	DKK2_ENST00000513208.1_Silent_p.R21R|DKK2_ENST00000510463.1_Silent_p.R75R	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	121	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CATTATTGCAGCGGGTACTGG	0.498000													22	118					1.26454e-06	1.44236e-06	0.693898	1	0
SVEP1	79987	broad.mit.edu	37	9	113169575	113169575	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:113169575G>A	ENST00000401783.2	-	38	8641	c.8305C>T	c.(8305-8307)Cgc>Tgc	p.R2769C	SVEP1_ENST00000297826.5_Missense_Mutation_p.R695C|SVEP1_ENST00000374469.1_Missense_Mutation_p.R2746C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2769	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTTCACAGCGTGGGGAGGCA	0.463000													25	41					0	0	0.729181	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741214	140741214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140741214C>A	ENST00000522605.1	+	1	1512	c.1512C>A	c.(1510-1512)taC>taA	p.Y504*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTATCCTACGTGTCCGTGA	0.632000													38	25					4.44401e-20	6.95107e-20	0.853193	1	0
DOCK2	1794	broad.mit.edu	37	5	169506025	169506025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:169506025G>T	ENST00000256935.8	+	49	5121	c.5041G>T	c.(5041-5043)Gag>Tag	p.E1681*	DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E742*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E1173*|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1681					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGGAGCAGGAGGAACCGAT	0.542000													58	58					2.84776e-26	4.87796e-26	0.870114	1	0
HCN3	57657	broad.mit.edu	37	1	155254516	155254516	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:155254516C>T	ENST00000368358.3	+	4	1065	c.1057C>T	c.(1057-1059)Ctg>Ttg	p.L353L	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	353						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATCCAGTCCCTGGACTCTTC	0.602000													18	69					0	0	0.639603	0	0
SMC4	10051	broad.mit.edu	37	3	160138648	160138648	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:160138648A>G	ENST00000357388.3	+	13	2429	c.1978A>G	c.(1978-1980)Aga>Gga	p.R660G	SMC4_ENST00000462787.1_Missense_Mutation_p.R660G|SMC4_ENST00000469762.1_Missense_Mutation_p.R635G|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.R660G|SMC4_ENST00000344722.5_Missense_Mutation_p.R660G	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	660	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCCTTAAAAGACAAAATAT	0.338000													17	45					0	0	0.520397	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058294	81058294	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:81058294G>T	ENST00000334512.5	+	15	2195	c.1623G>T	c.(1621-1623)ccG>ccT	p.P541P		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	541	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACCCTTCCCGCCTGACATCA	0.662000													27	48					3.11337e-16	4.55406e-16	0.769981	1	0
SYNE3	161176	broad.mit.edu	37	14	95942060	95942060	+	Silent	SNP	C	C	A	rs146245189	byFrequency	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:95942060C>A	ENST00000334258.5	-	1	113	c.99G>T	c.(97-99)acG>acT	p.T33T	SYNE3_ENST00000553340.1_Silent_p.T33T|SYNE3_ENST00000557275.1_Silent_p.T33T	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						GGGGTCCCTGCGTGTTGTCAT	0.657000													9	26					7.48243e-07	8.56943e-07	0.335167	1	0
ZNF415	55786	broad.mit.edu	37	19	53612593	53612593	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:53612593C>G	ENST00000455735.2	-	7	1169	c.849G>C	c.(847-849)caG>caC	p.Q283H	ZNF415_ENST00000440291.1_Missense_Mutation_p.Q222H|ZNF415_ENST00000421033.1_Missense_Mutation_p.Q247H|ZNF415_ENST00000243643.4_Missense_Mutation_p.Q235H|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.Q235H|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.Q283H|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.Q5H			Q09FC8	ZN415_HUMAN	zinc finger protein 415	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AATGACTTACCTGACGTACAG	0.408000													12	83					0	0	0.435327	0	0
OR2A5	393046	broad.mit.edu	37	7	143748172	143748172	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:143748172G>C	ENST00000408906.2	+	1	712	c.678G>C	c.(676-678)ttG>ttC	p.L226F		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CGGCCATCTTGAGGATCCAGT	0.597000													85	184					0	0	0.870114	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160267991	160267991	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:160267991G>T	ENST00000264431.4	+	19	3489	c.3070G>T	c.(3070-3072)Gta>Tta	p.V1024L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1024					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GACCTCTCCAGTAGCTCCAAG	0.478000													27	111					3.90053e-15	5.61756e-15	0.760397	1	0
DCAF6	55827	broad.mit.edu	37	1	168012315	168012315	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:168012315G>T	ENST00000367840.3	+	14	1874	c.1780G>T	c.(1780-1782)Ggt>Tgt	p.G594C	DCAF6_ENST00000312263.6_Missense_Mutation_p.G517C|DCAF6_ENST00000432587.2_Missense_Mutation_p.G563C|DCAF6_ENST00000367843.3_Missense_Mutation_p.G537C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	553					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CAAATCTGAGGGTCAGGAGGA	0.398000													24	40					1.39806e-14	1.97296e-14	0.729181	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37490204	37490204	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:37490204C>T	ENST00000374660.1	+	37	3108	c.3009C>T	c.(3007-3009)ccC>ccT	p.P1003P	ANKRD30A_ENST00000361713.1_Silent_p.P884P|ANKRD30A_ENST00000602533.1_Silent_p.P884P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1027						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGTGTGTACCCAAGGCTACAC	0.299000													31	59					0	0	0.804634	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858612	54858612	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:54858612G>T	ENST00000333896.5	+	15	3774	c.3389G>T	c.(3388-3390)cGg>cTg	p.R1130L	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1143L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1143					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTGCGGCAGCGGCTGCAGGCC	0.562000													35	117					2.40579e-17	3.61053e-17	0.819951	1	0
ANPEP	290	broad.mit.edu	37	15	90349646	90349646	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:90349646T>C	ENST00000300060.6	-	2	482	c.169A>G	c.(169-171)Acc>Gcc	p.T57A		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	57	Cytosolic Ser/Thr-rich junction.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCGGGGTTGGTGGTGGCTGAG	0.612000													94	97					0	0	0.870114	0	0
MDGA1	266727	broad.mit.edu	37	6	37619860	37619860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:37619860G>T	ENST00000434837.2	-	7	2417	c.1239C>A	c.(1237-1239)taC>taA	p.Y413*	MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Y413*|MDGA1_ENST00000505425.1_Nonsense_Mutation_p.Y413*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	413	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CCATGCACAGGTAGGTGCCAT	0.612000													4	26					0.00024832	0.000265497	0.150653	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171723	68171723	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:68171723C>A	ENST00000243457.3	+	2	926	c.543C>A	c.(541-543)gcC>gcA	p.A181A	KCNJ2_ENST00000535240.1_Silent_p.A181A	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	181					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CAGTCATGGCCAAGATGGCAA	0.498000													27	91					1.68575e-08	2.01286e-08	0.717897	1	0
MUC17	140453	broad.mit.edu	37	7	100680571	100680571	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:100680571C>A	ENST00000306151.4	+	3	5938	c.5874C>A	c.(5872-5874)acC>acA	p.T1958T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1958	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGACCACTTATTCTC	0.483000													156	383					1.10254e-51	2.15351e-51	0.870114	1	0
FANCF	2188	broad.mit.edu	37	11	22647010	22647010	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:22647010A>G	ENST00000327470.3	-	1	377	c.347T>C	c.(346-348)tTt>tCt	p.F116S	AC103801.2_ENST00000428556.2_5'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	116					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CGGGCCGGGAAAGAGTTGCTG	0.672000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	123					0	0	0.639603	0	0
BUB1B	701	broad.mit.edu	37	15	40498599	40498599	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:40498599A>T	ENST00000287598.6	+	15	2144	c.1949A>T	c.(1948-1950)gAg>gTg	p.E650V	BUB1B_ENST00000412359.3_Missense_Mutation_p.E664V	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	650					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AAGACCTCTGAGGACCAGCAG	0.433000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				38	34					0	0	0.834066	0	0
SNTG1	54212	broad.mit.edu	37	8	51314826	51314826	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:51314826G>C	ENST00000522124.1	+	4	745	c.84G>C	c.(82-84)cgG>cgC	p.R28R	SNTG1_ENST00000518864.1_Silent_p.R28R|SNTG1_ENST00000276467.5_Silent_p.R28R|SNTG1_ENST00000517473.1_Silent_p.R28R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	28					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAAAGTGCGGCTGCACCTAG	0.388000													46	103					0	0	0.870114	0	0
OR5D16	390144	broad.mit.edu	37	11	55607012	55607012	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55607012G>T	ENST00000378396.1	+	1	785	c.785G>T	c.(784-786)tGt>tTt	p.C262F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTCCTCTACTGTGTACCCAAC	0.527000													62	74					2.6465e-34	4.85522e-34	0.870114	1	0
KIF5C	3800	broad.mit.edu	37	2	149679736	149679736	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:149679736C>A	ENST00000435030.1	+	2	525	c.157C>A	c.(157-159)Cta>Ata	p.L53I				O60282	KIF5C_HUMAN	kinesin family member 5C	53	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CGACAGAGTGCTACCTCCCAA	0.408000													5	41					0.00198382	0.0020714	0.248553	1	0
FBN3	84467	broad.mit.edu	37	19	8191639	8191639	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:8191639C>A	ENST00000600128.1	-	19	2788	c.2374G>T	c.(2374-2376)Ggc>Tgc	p.G792C	FBN3_ENST00000270509.2_Missense_Mutation_p.G792C|FBN3_ENST00000601739.1_Missense_Mutation_p.G792C			Q75N90	FBN3_HUMAN	fibrillin 3	792	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGCCAGGGCCACATTTGCAG	0.667000													12	25					6.72482e-11	8.66765e-11	0.479597	1	0
ABCA13	154664	broad.mit.edu	37	7	48547486	48547486	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:48547486G>T	ENST00000435803.1	+	50	13389	c.13365G>T	c.(13363-13365)caG>caT	p.Q4455H	ABCA13_ENST00000544596.1_Missense_Mutation_p.Q185H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4455					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCATCCGTCAGTGTGGAGTGG	0.547000													18	17					1.37657e-19	2.1412e-19	0.608945	1	0
SSFA2	6744	broad.mit.edu	37	2	182780574	182780574	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:182780574G>T	ENST00000431877.2	+	11	2386	c.2207G>T	c.(2206-2208)aGg>aTg	p.R736M	SSFA2_ENST00000428267.2_Missense_Mutation_p.R583M|SSFA2_ENST00000409136.1_Missense_Mutation_p.R245M|SSFA2_ENST00000320370.7_Missense_Mutation_p.R736M|SSFA2_ENST00000409001.1_Missense_Mutation_p.R736M	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	736						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCTCTAAGAAGGTCTCAGTCT	0.433000													28	80					1.56442e-22	2.56769e-22	0.760397	1	0
KCNB2	9312	broad.mit.edu	37	8	73849808	73849808	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:73849808A>T	ENST00000523207.1	+	3	2806	c.2218A>T	c.(2218-2220)Acc>Tcc	p.T740S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	740					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTGCCAGTCACCACAGCTGA	0.557000													51	244					0	0	0.870114	0	0
ALDOA	226	broad.mit.edu	37	16	30081487	30081487	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:30081487G>T	ENST00000566897.1	+	12	2201	c.1049G>T	c.(1048-1050)gGg>gTg	p.G350V	ALDOA_ENST00000564546.1_Missense_Mutation_p.G350V|ALDOA_ENST00000563060.2_Missense_Mutation_p.G350V|ALDOA_ENST00000338110.5_Missense_Mutation_p.G350V|ALDOA_ENST00000395248.1_Missense_Mutation_p.G404V|ALDOA_ENST00000395240.3_Missense_Mutation_p.G354V|ALDOA_ENST00000412304.2_Missense_Mutation_p.G350V|ALDOA_ENST00000569798.1_3'UTR|ALDOA_ENST00000564595.2_Missense_Mutation_p.G404V|ALDOA_ENST00000569545.1_Missense_Mutation_p.G350V			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	350					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GGTCAGGCTGGGGCTGCTGCC	0.627000													17	124					1.85244e-09	2.2827e-09	0.654019	1	0
CLCA1	1179	broad.mit.edu	37	1	86959282	86959282	+	Splice_Site	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:86959282G>A	ENST00000234701.3	+	11	2031	c.1680_splice	c.e11+1	p.K560_splice	CLCA1_ENST00000394711.1_Splice_Site_p.K560_splice			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	560					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCATTGCTAAGGTATGGAGTC	0.388000													13	20					0	0	0.457914	0	0
CYP27C1	339761	broad.mit.edu	37	2	127952990	127952990	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:127952990A>T	ENST00000335247.7	-	5	770	c.640T>A	c.(640-642)Tta>Ata	p.L214I	CYP27C1_ENST00000409327.1_Missense_Mutation_p.L214I	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	214						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CTTTCCCCTAAATTCTTCACA	0.532000													15	53					0	0	0.539581	0	0
MYO18B	84700	broad.mit.edu	37	22	26270253	26270253	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:26270253G>T	ENST00000335473.7	+	23	4202	c.3951_splice	c.e23-1	p.V1318_splice	MYO18B_ENST00000536101.1_Splice_Site_p.V1318_splice|MYO18B_ENST00000407587.2_Splice_Site_p.V1319_splice	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1318	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCTCCCCAGGTTTTTCTCAA	0.542000													45	83					4.6707e-30	8.30488e-30	0.870114	1	0
C3orf36	80111	broad.mit.edu	37	3	133647318	133647318	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:133647318C>A	ENST00000408895.2	-	1	1338	c.330G>T	c.(328-330)ggG>ggT	p.G110G		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	110										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GTGGGTGGTTCCCCCCAGGTG	0.662000													14	26					1.5739e-10	2.01537e-10	0.500413	1	0
LIG4	3981	broad.mit.edu	37	13	108863581	108863581	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:108863581A>T	ENST00000356922.4	-	2	308	c.36T>A	c.(34-36)tcT>tcA	p.S12S	LIG4_ENST00000405925.1_Silent_p.S12S|LIG4_ENST00000442234.1_Silent_p.S12S	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	12					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGGAACGTGAGATGCAACAG	0.353000								Non-homologous end-joining					22	25					0	0	0.681144	0	0
OBSCN	84033	broad.mit.edu	37	1	228468314	228468314	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:228468314G>T	ENST00000570156.2	+	35	9375	c.9301G>T	c.(9301-9303)Gac>Tac	p.D3101Y	OBSCN_ENST00000422127.1_Missense_Mutation_p.D2672Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.D2672Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.D1519Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2102	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAAGTCTCTGACCCCGAGGC	0.652000													24	60					9.39395e-14	1.29679e-13	0.706142	1	0
STRA6	64220	broad.mit.edu	37	15	74481483	74481483	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:74481483C>A	ENST00000323940.5	-	12	1308	c.1063G>T	c.(1063-1065)Gtg>Ttg	p.V355L	STRA6_ENST00000416286.3_Missense_Mutation_p.V347L|STRA6_ENST00000395105.4_Missense_Mutation_p.V355L|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Missense_Mutation_p.V370L|STRA6_ENST00000449139.2_Missense_Mutation_p.V355L|STRA6_ENST00000423167.2_Missense_Mutation_p.V346L|STRA6_ENST00000563965.1_Missense_Mutation_p.V394L|STRA6_ENST00000535552.1_Missense_Mutation_p.V392L	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	355					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TGGTGCTTCACCAGCTCCACC	0.617000													19	19					2.44723e-14	3.43628e-14	0.681144	1	0
EPB41L1	2036	broad.mit.edu	37	20	34761806	34761806	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:34761806G>T	ENST00000338074.2	+	2	268	c.107G>T	c.(106-108)gGc>gTc	p.G36V	EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G36V|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000202028.5_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	36					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACCCCTGCAGGCCACGGCCAC	0.647000													4	10					0.00909568	0.00932367	0.150653	1	0
LAMA2	3908	broad.mit.edu	37	6	129635808	129635808	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:129635808G>T	ENST00000421865.2	+	24	3469	c.3420G>T	c.(3418-3420)gtG>gtT	p.V1140V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1140	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGGTGAATGTGGAAGGCATCC	0.498000													15	24					1.99824e-07	2.32792e-07	0.520397	1	0
PI16	221476	broad.mit.edu	37	6	36922668	36922668	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:36922668G>T	ENST00000373674.3	+	1	460	c.132G>T	c.(130-132)cgG>cgT	p.R44R		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	44						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCTCTACCGGGCCCAGGTAT	0.627000													35	57					2.20914e-33	4.01532e-33	0.859065	1	0
COL22A1	169044	broad.mit.edu	37	8	139890201	139890201	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:139890201G>A	ENST00000303045.6	-	3	896	c.450C>T	c.(448-450)acC>acT	p.T150T	COL22A1_ENST00000435777.1_Silent_p.T150T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	150	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGCGGCCGTCGGTGAGCAGGA	0.736000										HNSCC(7;0.00092)			4	7					0	0	0.150653	0	0
RASAL3	64926	broad.mit.edu	37	19	15564222	15564222	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:15564222C>G	ENST00000343625.6	-	15	2446	c.2366G>C	c.(2365-2367)cGc>cCc	p.R789P		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	789	Arg-rich.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GCGAACGCTGCGCAGAGACTG	0.726000													3	6					0	0	0.184627	0	0
MRPL49	740	broad.mit.edu	37	11	64893330	64893330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:64893330G>T	ENST00000279242.2	+	4	506	c.487G>T	c.(487-489)Gag>Tag	p.E163*	MRPL49_ENST00000531705.1_Intron|MRPL49_ENST00000524482.1_3'UTR|MRPL49_ENST00000534078.1_3'UTR	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	163					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						CTGGCTCTTGGAGAAAGGCTT	0.602000													13	70					2.61681e-11	3.41998e-11	0.457914	1	0
ACACA	31	broad.mit.edu	37	17	35581990	35581990	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:35581990G>A	ENST00000353139.5	-	27	3878	c.3397C>T	c.(3397-3399)Cgc>Tgc	p.R1133C	ACACA_ENST00000394406.2_Missense_Mutation_p.R1096C|ACACA_ENST00000335166.5_Missense_Mutation_p.R1018C|ACACA_ENST00000360679.3_Missense_Mutation_p.R1038C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1096					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGTTATGGCGAAGCTCATAT	0.373000													22	95					0	0	0.681144	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518458	113518458	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:113518458T>A	ENST00000284601.3	-	4	2757	c.2689A>T	c.(2689-2691)Att>Ttt	p.I897F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	897					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATGCACAATGGCATCCGAG	0.368000													35	72					0	0	0.779181	0	0
CLHC1	130162	broad.mit.edu	37	2	55436803	55436803	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:55436803C>T	ENST00000401408.1	-	6	1009	c.664G>A	c.(664-666)Gat>Aat	p.D222N	CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.D222N|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.D100N	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		TCAGCTACATCTCGCCGTTTT	0.299000													8	51					0	0	0.307466	0	0
ZNF831	128611	broad.mit.edu	37	20	57829030	57829030	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:57829030A>T	ENST00000371030.2	+	5	4266	c.4266A>T	c.(4264-4266)caA>caT	p.Q1422H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1422						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TATCTCTGCAATCTGACACCT	0.517000													27	46					0	0	0.750413	0	0
FCN1	2219	broad.mit.edu	37	9	137808285	137808285	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:137808285C>A	ENST00000371806.3	-	2	217	c.126G>T	c.(124-126)gaG>gaT	p.E42D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	42					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TGTCAGAGCCCTCCAGGCCCA	0.642000													71	70					1.14856e-27	1.99348e-27	0.870114	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18158991	18158991	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:18158991T>C	ENST00000396275.2	+	3	603	c.242T>C	c.(241-243)aTa>aCa	p.I81T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	81						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCCACATTATATGTTCGCCG	0.547000													44	34					0	0	0.870114	0	0
MMP16	4325	broad.mit.edu	37	8	89053794	89053794	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:89053794C>A	ENST00000286614.6	-	10	2000	c.1719G>T	c.(1717-1719)ttG>ttT	p.L573F		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	573					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GGCATAAGGCCAAGATGCAGG	0.473000													17	148					2.37509e-13	3.24673e-13	0.592651	1	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959614	45959614	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:45959614G>A	ENST00000400375.1	-	1	464	c.420C>T	c.(418-420)tcC>tcT	p.S140S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	140	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCACACAGCAGGACTGCTGGC	0.577000													92	113					0	0	0.870114	0	0
CNGA2	1260	broad.mit.edu	37	X	150912760	150912760	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:150912760C>A	ENST00000329903.4	+	6	1818	c.1785C>A	c.(1783-1785)gtC>gtA	p.V595V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	595					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCATGGAGGTCGACGTGCAGG	0.577000													95	44					3.45881e-44	6.62405e-44	0.870114	1	0
SLC5A9	200010	broad.mit.edu	37	1	48698140	48698140	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:48698140C>A	ENST00000236495.5	+	9	1124	c.1074C>A	c.(1072-1074)gtC>gtA	p.V358V	SLC5A9_ENST00000533824.1_Silent_p.V354V|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Silent_p.V333V	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	333						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCTTCATCGTCATGCCTGGCA	0.572000													39	38					2.43139e-17	3.64338e-17	0.870114	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140744546	140744546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140744546G>T	ENST00000518069.1	+	1	649	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTTAGATGGCGGAGACCC	0.577000													50	26					5.13769e-22	8.34874e-22	0.870114	1	0
DCAF15	90379	broad.mit.edu	37	19	14070233	14070233	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:14070233C>G	ENST00000254337.6	+	7	1182	c.1161C>G	c.(1159-1161)gtC>gtG	p.V387V		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	387										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTGGCTATGTCAACTACACCA	0.672000													15	32					0	0	0.539581	0	0
NID2	22795	broad.mit.edu	37	14	52494053	52494053	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:52494053G>T	ENST00000216286.5	-	12	2539	c.2540C>A	c.(2539-2541)cCa>cAa	p.P847Q	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	847						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTTGGCAGGTGGGGTGATCAC	0.562000													4	17					1.58986e-06	1.80608e-06	0.361761	1	0
FAM120A	23196	broad.mit.edu	37	9	96261151	96261151	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:96261151A>T	ENST00000277165.6	+	5	1207	c.1013A>T	c.(1012-1014)cAt>cTt	p.H338L	FAM120A_ENST00000333936.5_Missense_Mutation_p.H338L|FAM120A_ENST00000340893.4_Missense_Mutation_p.H338L|FAM120A_ENST00000375389.3_Missense_Mutation_p.H338L	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	338						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGTCATTTCATCCACCACAT	0.328000													31	99					0	0	0.796494	0	0
DOK6	220164	broad.mit.edu	37	18	67365809	67365809	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:67365809G>T	ENST00000382713.5	+	5	769	c.579G>T	c.(577-579)tgG>tgT	p.W193C	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	193	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ACTCAACGTGGTTCACGTTTG	0.473000													21	19					4.26978e-12	5.64796e-12	0.654019	1	0
NEUROG3	50674	broad.mit.edu	37	10	71332522	71332522	+	Missense_Mutation	SNP	C	C	T	rs121917838		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:71332522C>T	ENST00000242462.4	-	2	307	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	93			R -> L (in DIAR4; attenuated NEUROG3 function in vivo).		central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CATTCGATTGCGCTCGCGGTC	0.662000													5	21					0	0	0.184627	0	0
MED12L	116931	broad.mit.edu	37	3	151085961	151085961	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:151085961C>T	ENST00000474524.1	+	23	3405	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S	MED12L_ENST00000273432.4_Missense_Mutation_p.P983S|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1123					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGACGCCGAGCCTGGGGCGAG	0.512000													20	74					0	0	0.639603	0	0
PROKR1	10887	broad.mit.edu	37	2	68882465	68882465	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:68882465G>T	ENST00000303786.3	+	3	1359	c.939G>T	c.(937-939)gtG>gtT	p.V313V	PROKR1_ENST00000394342.2_Silent_p.V313V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	313						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCCCCACCGTGTTTGTGAAGG	0.562000													57	64					3.00063e-23	4.96647e-23	0.870114	1	0
FNDC1	84624	broad.mit.edu	37	6	159653318	159653318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:159653318C>A	ENST00000297267.9	+	11	1974	c.1774C>A	c.(1774-1776)Ccc>Acc	p.P592T	FNDC1_ENST00000340366.6_Missense_Mutation_p.P529T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	592						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCAGCGCTGCCCCGAAGGGA	0.697000													6	6					0.00116845	0.00122524	0.217242	1	0
C1orf127	148345	broad.mit.edu	37	1	11008247	11008247	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:11008247T>A	ENST00000377004.4	-	12	1944	c.1945A>T	c.(1945-1947)Agc>Tgc	p.S649C	C1orf127_ENST00000377008.4_Missense_Mutation_p.S482C	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	500										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ATGTCCTGGCTTGGTTCTGAG	0.647000													18	63					0	0	0.592651	0	0
TSSK4	283629	broad.mit.edu	37	14	24676331	24676331	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:24676331C>A	ENST00000339917.5	+	3	654	c.450C>A	c.(448-450)ccC>ccA	p.P150P	TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000287913.6_Intron|TSSK4_ENST00000428351.2_Intron|TSSK4_ENST00000556621.1_Intron|TM9SF1_ENST00000556387.1_Intron	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	147	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		GCCTGATGCCCAGCCTTTCTG	0.522000													23	62					2.48779e-11	3.25787e-11	0.693898	1	0
NMU	10874	broad.mit.edu	37	4	56496606	56496606	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:56496606C>A	ENST00000264218.3	-	2	239	c.134G>T	c.(133-135)gGa>gTa	p.G45V	NMU_ENST00000507338.1_Missense_Mutation_p.G45V|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000505262.1_Missense_Mutation_p.G45V|NMU_ENST00000511469.1_Missense_Mutation_p.G45V	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	45					neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		AGGCTGTAATCCTTGAGGTAA	0.308000													16	85					1.00905e-13	1.39001e-13	0.575678	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185085	127185085	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:127185085C>A	ENST00000371124.3	-	1	1297	c.1101G>T	c.(1099-1101)ggG>ggT	p.G367G		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	367						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCACAGATGTCCCATACTCCT	0.463000													89	34					2.01602e-52	3.94168e-52	0.870114	1	0
B3GNT5	84002	broad.mit.edu	37	3	182988576	182988576	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:182988576G>T	ENST00000326505.3	+	2	1520	c.990G>T	c.(988-990)caG>caT	p.Q330H	MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.Q330H|B3GNT5_ENST00000465010.1_Missense_Mutation_p.Q330H|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	330					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAGATCTCCAGGACCTTTGGA	0.368000													19	28					7.87624e-14	1.09343e-13	0.639603	1	0
TECPR2	9895	broad.mit.edu	37	14	102891465	102891465	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:102891465G>A	ENST00000359520.7	+	6	1014	c.788G>A	c.(787-789)gGg>gAg	p.G263E	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.G263E	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	263							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTTTTGCCGGGGGAGTCAAG	0.532000													32	38					0	0	0.788014	0	0
C7orf49	78996	broad.mit.edu	37	7	134852536	134852536	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:134852536T>A	ENST00000430372.1	-	3	483	c.158A>T	c.(157-159)tAc>tTc	p.Y53F	C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000483029.2_5'UTR|C7orf49_ENST00000393114.3_Missense_Mutation_p.Y54F	NM_001243751.1|NM_024033.3	NP_001230680.1|NP_076938.2	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	54						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						ATTCATGCAGTACACAGTCCT	0.473000													36	50					0	0	0.834066	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508406	106508406	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:106508406C>A	ENST00000359195.3	+	2	710	c.400C>A	c.(400-402)Cag>Aag	p.Q134K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.Q134K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.Q134K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	134					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAGCCCGGGCCAGATCCACCT	0.632000													27	35					2.08457e-15	3.01993e-15	0.750413	1	0
LUZP2	338645	broad.mit.edu	37	11	24927592	24927592	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:24927592C>A	ENST00000533227.1	+	6	481	c.194C>A	c.(193-195)gCa>gAa	p.A65E	LUZP2_ENST00000336930.6_Missense_Mutation_p.A151E	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	151						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGCATTCACGCAGAAGAGGTG	0.328000													22	30					7.26314e-15	1.03241e-14	0.717897	1	0
AGPS	8540	broad.mit.edu	37	2	178301781	178301781	+	Splice_Site	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:178301781A>T	ENST00000264167.4	+	5	782	c.637_splice	c.e5+1	p.P212_splice	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	212	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTTATGGCCAAGTAAGTTTT	0.308000													24	59					0	0	0.706142	0	0
FGL2	10875	broad.mit.edu	37	7	76825816	76825816	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:76825816G>A	ENST00000248598.5	-	2	1132	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	367	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GTTCCCAGAAGGATATCGATC	0.398000													41	102					0	0	0.870114	0	0
LRRC30	339291	broad.mit.edu	37	18	7231352	7231352	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:7231352G>C	ENST00000383467.2	+	1	230	c.216G>C	c.(214-216)gaG>gaC	p.E72D		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	72										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCTTGTCCGAGGTCCAGAAAC	0.612000													11	61					0	0	0.387290	0	0
NTSR1	4923	broad.mit.edu	37	20	61391429	61391429	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:61391429G>C	ENST00000370501.3	+	4	1438	c.1067G>C	c.(1066-1068)aGc>aCc	p.S356T	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	356						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TTCTACGTCAGCTCCACCATC	0.582000													31	137					0	0	0.804634	0	0
IL23R	149233	broad.mit.edu	37	1	67685346	67685346	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:67685346T>C	ENST00000347310.5	+	7	1059	c.888T>C	c.(886-888)tgT>tgC	p.C296C	IL23R_ENST00000473881.1_3'UTR|C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Silent_p.C296C|IL23R_ENST00000395227.1_Silent_p.C41C	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	296	Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AAGTGAGATGTCAAGAAACAG	0.358000													37	64					0	0	0.847076	0	0
MUC16	94025	broad.mit.edu	37	19	9049156	9049156	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9049156G>T	ENST00000397910.4	-	5	32678	c.32475C>A	c.(32473-32475)gtC>gtA	p.V10825V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10827	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGATGCGTGACCAATGAAA	0.488000													33	95					1.26612e-14	1.79063e-14	0.779181	1	0
DUSP4	1846	broad.mit.edu	37	8	29195937	29195937	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:29195937C>A	ENST00000240100.2	-	3	1050	c.661G>T	c.(661-663)Ggc>Tgc	p.G221C	DUSP4_ENST00000240101.2_Missense_Mutation_p.G130C	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	221	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GCCGTGATGCCCAGGGCGTCC	0.562000													26	18					7.26314e-15	1.03241e-14	0.717897	1	0
TUBA3E	112714	broad.mit.edu	37	2	130949676	130949676	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:130949676T>G	ENST00000312988.7	-	5	1181	c.1081A>C	c.(1081-1083)Aca>Cca	p.T361P		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	361					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GGGACCACTGTGGGGGGCTGG	0.582000													16	52					0	0	0.729181	0	0
YAE1D1	57002	broad.mit.edu	37	7	39606023	39606023	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:39606023G>T	ENST00000432096.2	+	1	19	c.6G>T	c.(4-6)tcG>tcT	p.S2S	YAE1D1_ENST00000223273.2_Silent_p.S2S|YAE1D1_ENST00000448268.1_Silent_p.S2S			Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	2																	CGGTGATGTCGTGGGTTCAAG	0.637000													23	30					5.45727e-16	7.96477e-16	0.729181	1	0
PGLYRP3	114771	broad.mit.edu	37	1	153279620	153279620	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:153279620T>C	ENST00000290722.1	-	2	231	c.179A>G	c.(178-180)cAg>cGg	p.Q60R		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	60					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAACGCTCTGCTGCTGGCA	0.622000													5	18					0	0	0.217242	0	0
GRB10	2887	broad.mit.edu	37	7	50683919	50683919	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:50683919C>A	ENST00000403097.1	-	10	1734	c.954G>T	c.(952-954)aaG>aaT	p.K318N	GRB10_ENST00000398812.2_Missense_Mutation_p.K324N|GRB10_ENST00000406641.1_Missense_Mutation_p.K266N|GRB10_ENST00000398810.2_Missense_Mutation_p.K266N|GRB10_ENST00000402578.1_Missense_Mutation_p.K266N|GRB10_ENST00000401949.1_Missense_Mutation_p.K324N|GRB10_ENST00000439599.1_Missense_Mutation_p.K318N|GRB10_ENST00000357271.5_Intron|GRB10_ENST00000335866.3_Missense_Mutation_p.K266N|GRB10_ENST00000407526.1_Missense_Mutation_p.K266N|GRB10_ENST00000402497.1_Missense_Mutation_p.K266N			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	324	PH.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TTGAAGTTCCCTTGGTGGAGC	0.463000									Russell-Silver syndrome				19	66					9.39395e-14	1.29679e-13	0.706142	1	0
ZFP36L1	677	broad.mit.edu	37	14	69256951	69256951	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:69256951C>A	ENST00000439696.2	-	2	617	c.316G>T	c.(316-318)Ggg>Tgg	p.G106W	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.G106W	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	106					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGCCGCCCCCGGGCTGCTTC	0.672000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	56					9.16793e-09	1.10004e-08	0.520397	1	0
LPAR4	2846	broad.mit.edu	37	X	78011208	78011208	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:78011208C>A	ENST00000435339.2	+	2	1247	c.842C>A	c.(841-843)aCt>aAt	p.T281N	LPAR4_ENST00000373301.2_Missense_Mutation_p.T281N	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	281						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CAAGCTATTACTAATTGCTTT	0.418000													20	13					2.37509e-13	3.24673e-13	0.592651	1	0
SLC45A1	50651	broad.mit.edu	37	1	8390598	8390598	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:8390598G>A	ENST00000471889.1	+	5	1430	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S	SLC45A1_ENST00000377479.2_Missense_Mutation_p.G383S|SLC45A1_ENST00000289877.8_Missense_Mutation_p.G349S|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	349					carbohydrate transport	integral to membrane	symporter activity	p.G349S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCAAGTACGGCAGCTTCAT	0.642000													29	39					0	0	0.729181	0	0
SYNE2	23224	broad.mit.edu	37	14	64554189	64554189	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:64554189A>T	ENST00000357395.3	+	58	11767	c.623A>T	c.(622-624)tAt>tTt	p.Y208F	SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.Y208F|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3828	Actin-binding.|CH 2.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTTCTTATTATGTTACAGTT	0.313000													27	132					0	0	0.750413	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820307	35820307	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:35820307G>C	ENST00000399992.1	+	3	189	c.90G>C	c.(88-90)agG>agC	p.R30S	MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR			A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	0										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CACCCACAAGGGTCATCATGT	0.537000													20	24					0	0	0.681144	0	0
FAM107B	83641	broad.mit.edu	37	10	14816274	14816274	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:14816274G>T	ENST00000181796.2	-	1	622	c.389C>A	c.(388-390)cCa>cAa	p.P130Q		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATAATTGATGGTCTGGGGAT	0.582000													35	43					6.97489e-18	1.05321e-17	0.804634	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885714	88885714	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:88885714C>A	ENST00000319675.3	-	1	582	c.486G>T	c.(484-486)tcG>tcT	p.S162S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	162										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTATGAACAGCGACGCTGGGA	0.577000													64	51					9.10829e-22	1.47643e-21	0.870114	1	0
FAM135B	51059	broad.mit.edu	37	8	139158249	139158249	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:139158249C>T	ENST00000395297.1	-	15	3663	c.3493G>A	c.(3493-3495)Ggg>Agg	p.G1165R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1165										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCAGGGAGCCCCAGTTCTATG	0.438000										HNSCC(54;0.14)			12	120					0	0	0.500413	0	0
KHDC1	80759	broad.mit.edu	37	6	73952169	73952169	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:73952169C>T	ENST00000423730.3	-	2	507	c.72G>A	c.(70-72)atG>atA	p.M24I	KHDC1_ENST00000257765.5_Missense_Mutation_p.M24I|KHDC1_ENST00000370384.3_Missense_Mutation_p.M97I																							TGTGAAACACCATTGGTGCAT	0.527000													25	86					0	0	0.760397	0	0
ZNF812	729648	broad.mit.edu	37	19	9801928	9801928	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9801928A>T	ENST00000457674.2	-	5	769	c.251T>A	c.(250-252)gTg>gAg	p.V84E	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTTTCCATCCACTGTAGCTTC	0.383000													7	22					0	0	0.248553	0	0
NUP133	55746	broad.mit.edu	37	1	229588285	229588285	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:229588285G>A	ENST00000261396.3	-	22	3177	c.3086C>T	c.(3085-3087)cCa>cTa	p.P1029L	NUP133_ENST00000366679.1_Missense_Mutation_p.P958L|NUP133_ENST00000537506.1_Missense_Mutation_p.P1013L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1029					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AATGAGTTGTGGTGCAGTCAA	0.453000													20	62					0	0	0.681144	0	0
HEXA	3073	broad.mit.edu	37	15	72637881	72637881	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:72637881C>A	ENST00000268097.5	-	13	1935	c.1432G>T	c.(1432-1434)Ggg>Tgg	p.G478W	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.G478W|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_3'UTR|HEXA_ENST00000566304.1_Missense_Mutation_p.G489W	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	478					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GCAACAGCCCCTGCTCTGGGC	0.542000													25	19					2.80507e-11	3.66358e-11	0.760397	1	0
BRD9	65980	broad.mit.edu	37	5	878500	878500	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:878500C>A	ENST00000323510.4	-	8	952	c.953G>T	c.(952-954)gGa>gTa	p.G318V	BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.G298V|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000467963.1_Missense_Mutation_p.G414V|BRD9_ENST00000483173.1_Missense_Mutation_p.G361V			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	414							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TGTCTCATCTCCGTAGGCTGA	0.582000													19	130					2.47511e-08	2.9482e-08	0.729181	1	0
MMP8	4317	broad.mit.edu	37	11	102584178	102584178	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:102584178A>T	ENST00000236826.3	-	10	1403	c.1305T>A	c.(1303-1305)caT>caA	p.H435Q		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	435	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CACTGAAGACATGGAAGAAAT	0.353000													33	63					0	0	0.779181	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048632	42048632	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:42048632T>A	ENST00000372584.1	-	3	2851	c.1837A>T	c.(1837-1839)Aca>Tca	p.T613S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.T613S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.T613S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.T613S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	613	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTGGAGGCTGTGTCTTTGCTG	0.527000													61	59					0	0	0.870114	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45721554	45721554	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:45721554G>T	ENST00000413988.1	-	7	604	c.564C>A	c.(562-564)cgC>cgA	p.R188R	EXOC3L2_ENST00000252482.3_Silent_p.R188R	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	188										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCCACTTCCGGCGCATCAGCT	0.637000													4	18					5.4927e-09	6.63927e-09	0.307466	1	0
LAMA2	3908	broad.mit.edu	37	6	129498915	129498915	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:129498915C>A	ENST00000421865.2	+	10	1420	c.1371C>A	c.(1369-1371)gcC>gcA	p.A457A		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	457	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCGGTGTGCCAGGGGCTACA	0.488000													30	23					1.08312e-15	1.57144e-15	0.740014	1	0
KLK5	25818	broad.mit.edu	37	19	51453249	51453249	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:51453249C>A	ENST00000336334.3	-	3	549	c.197G>T	c.(196-198)cGc>cTc	p.R66L	KLK5_ENST00000391809.2_Missense_Mutation_p.R66L|KLK5_ENST00000593428.1_Missense_Mutation_p.R66L	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	66					epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ATTGATGATGCGGCTGCTGCT	0.642000													9	22					2.74318e-10	3.47859e-10	0.335167	1	0
OGDH	4967	broad.mit.edu	37	7	44714856	44714856	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:44714856G>T	ENST00000222673.5	+	8	1057	c.1015G>T	c.(1015-1017)Gca>Tca	p.A339S	OGDH_ENST00000443864.2_Missense_Mutation_p.A339S|OGDH_ENST00000439616.2_Missense_Mutation_p.A189S|OGDH_ENST00000543843.1_Missense_Mutation_p.A290S|OGDH_ENST00000449767.1_Missense_Mutation_p.A335S|OGDH_ENST00000447398.1_Missense_Mutation_p.A350S|OGDH_ENST00000444676.1_Missense_Mutation_p.A354S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	339					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AAAGCTGGAGGCAGCTGATGA	0.517000													7	34					5.4927e-09	6.63927e-09	0.307466	1	0
L3MBTL1	26013	broad.mit.edu	37	20	42164825	42164825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:42164825G>T	ENST00000444063.1	+	15	1876	c.1744G>T	c.(1744-1746)Gag>Tag	p.E582*	L3MBTL1_ENST00000373135.3_Nonsense_Mutation_p.E582*|L3MBTL1_ENST00000418998.1_Nonsense_Mutation_p.E650*|L3MBTL1_ENST00000427442.2_Nonsense_Mutation_p.E650*|L3MBTL1_ENST00000373134.1_Nonsense_Mutation_p.E587*			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	582					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCCACTGGCTGAGAGGAACCA	0.612000													10	15					1.08611e-07	1.27134e-07	0.387290	1	0
GIMAP2	26157	broad.mit.edu	37	7	150389753	150389753	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:150389753C>A	ENST00000223293.5	+	3	473	c.379C>A	c.(379-381)Cag>Aag	p.Q127K		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	127						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGGCTGCACAGAGGGTGAA	0.552000													8	53					6.40141e-05	6.98497e-05	0.387290	1	0
NTNG1	22854	broad.mit.edu	37	1	107867410	107867410	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:107867410G>A	ENST00000370067.1	+	3	1380	c.753G>A	c.(751-753)aaG>aaA	p.K251K	NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370072.3_Silent_p.K251K|NTNG1_ENST00000370071.2_Silent_p.K251K|NTNG1_ENST00000370068.1_Silent_p.K251K|NTNG1_ENST00000370074.4_Silent_p.K251K|NTNG1_ENST00000370070.2_Silent_p.K251K|NTNG1_ENST00000542803.1_Silent_p.K251K|NTNG1_ENST00000370073.2_Silent_p.K251K|NTNG1_ENST00000370061.3_Silent_p.K251K|NTNG1_ENST00000370065.1_Silent_p.K251K|NTNG1_ENST00000370066.1_Silent_p.K251K			Q9Y2I2	NTNG1_HUMAN	netrin G1	251	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATACAACCAAGAAACTCAGAG	0.453000													15	50					0	0	0.479597	0	0
MUC16	94025	broad.mit.edu	37	19	9002550	9002550	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9002550G>T	ENST00000397910.4	-	51	40469	c.40266C>A	c.(40264-40266)atC>atA	p.I13422I	MUC16_ENST00000380951.5_Silent_p.I63I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13424	SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGCTCAGTGATGCCGTGGG	0.582000													38	170					3.21987e-24	5.40223e-24	0.870114	1	0
SLC39A4	55630	broad.mit.edu	37	8	145640452	145640452	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:145640452G>T	ENST00000276833.5	-	3	938	c.635C>A	c.(634-636)gCc>gAc	p.A212D	SLC39A4_ENST00000301305.3_Missense_Mutation_p.A237D	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	237						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GTCACTGTGGGCCTCCCTGCC	0.672000													16	127					1.96292e-10	2.49399e-10	0.592651	1	0
ASB15	142685	broad.mit.edu	37	7	123267195	123267195	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:123267195G>T	ENST00000451558.1	+	11	1250	c.729G>T	c.(727-729)ggG>ggT	p.G243G	ASB15_ENST00000434204.1_Silent_p.G243G|ASB15_ENST00000451215.1_Silent_p.G243G|ASB15_ENST00000275699.3_Silent_p.G243G|ASB15_ENST00000540573.1_Silent_p.G243G			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	243					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CGGATGATGGGGCGTCGGTGC	0.502000													99	109					1.75222e-57	3.44995e-57	0.870114	1	0
GABBR2	9568	broad.mit.edu	37	9	101168390	101168390	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:101168390C>G	ENST00000259455.2	-	8	1729	c.1270G>C	c.(1270-1272)Ggg>Cgg	p.G424R		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	424				G -> E (in Ref. 5; AAD30389).	negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTAATGGTCCCCATTCTCTCC	0.333000													18	37					0	0	0.667858	0	0
MAP2	4133	broad.mit.edu	37	2	210559241	210559241	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:210559241G>C	ENST00000360351.4	+	7	2853	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E779Q	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	783					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TACTCAAGCGGAGATATCATG	0.448000													38	50					0	0	0.834066	0	0
ZNF98	148198	broad.mit.edu	37	19	22585651	22585651	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:22585651G>C	ENST00000357774.5	-	3	314	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	ZNF98_ENST00000601553.1_Missense_Mutation_p.L65V	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CCTTGCTCCAGACAGGTGATC	0.413000													21	65					0	0	0.681144	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362833	49362833	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:49362833C>T	ENST00000263265.6	-	7	1140	c.585G>A	c.(583-585)ccG>ccA	p.P195P	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Silent_p.P195P	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	195	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GAGTCACTTCCGGTGATTCTG	0.687000													24	88					0	0	0.693898	0	0
EVX2	344191	broad.mit.edu	37	2	176946939	176946939	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:176946939G>T	ENST00000308618.4	-	2	802	c.666C>A	c.(664-666)gcC>gcA	p.A222A		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TGAGTGCCGCGGCCAGCTCGC	0.627000													22	18					1.04121e-07	1.22316e-07	0.693898	1	0
POSTN	10631	broad.mit.edu	37	13	38153024	38153024	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:38153024A>T	ENST00000379747.4	-	15	2036	c.1919T>A	c.(1918-1920)cTg>cAg	p.L640Q	POSTN_ENST00000379749.4_Missense_Mutation_p.L640Q|POSTN_ENST00000379743.4_Missense_Mutation_p.L640Q|POSTN_ENST00000379742.4_Missense_Mutation_p.L640Q|POSTN_ENST00000541481.1_Missense_Mutation_p.L640Q|POSTN_ENST00000541179.1_Missense_Mutation_p.L640Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	640					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TATTTCCAGCAGTTGATCATT	0.244000													10	17					0	0	0.479597	0	0
SLIT2	9353	broad.mit.edu	37	4	20543120	20543120	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:20543120G>T	ENST00000504154.1	+	20	2273	c.2021G>T	c.(2020-2022)tGg>tTg	p.W674L	SLIT2_ENST00000503823.1_Missense_Mutation_p.W666L|SLIT2_ENST00000503837.1_Missense_Mutation_p.W670L|SLIT2_ENST00000273739.5_Missense_Mutation_p.W678L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	674	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TACCTGGCTTGGTTGGGAGAG	0.453000													10	39					0.000442599	0.000469634	0.335167	1	0
DSG4	147409	broad.mit.edu	37	18	28986153	28986153	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:28986153T>G	ENST00000359747.4	+	12	1779	c.1750T>G	c.(1750-1752)Tta>Gta	p.L584V	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.L584V|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	584					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATGGTGCAGTTATATGCCTG	0.488000													4	64					0	0	0.184627	0	0
NMS	129521	broad.mit.edu	37	2	101086975	101086975	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:101086975C>A	ENST00000376865.1	+	1	32	c.25C>A	c.(25-27)Cct>Act	p.P9T		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	9					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TCCCCAGTTCCCTCTCATCTT	0.542000													30	159					3.21399e-22	5.23574e-22	0.804634	1	0
GPR174	84636	broad.mit.edu	37	X	78427235	78427235	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:78427235C>A	ENST00000276077.1	+	1	767	c.731C>A	c.(730-732)gCa>gAa	p.A244E		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	244						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						ATTTGCTTTGCACCTTATCAT	0.398000										HNSCC(63;0.18)			36	20					1.03484e-13	1.42453e-13	0.812448	1	0
TMC3	342125	broad.mit.edu	37	15	81637296	81637296	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:81637296T>A	ENST00000558726.1	-	13	1467	c.1332A>T	c.(1330-1332)gcA>gcT	p.A444A	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.A443A			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	443						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTGTCCTGGTTGCAAAGAAGG	0.507000													3	9					0	0	0.115264	0	0
PDE4D	5144	broad.mit.edu	37	5	59064181	59064181	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:59064181G>A	ENST00000507116.1	-	1	290	c.155C>T	c.(154-156)cCc>cTc	p.P52L	PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.P52L|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000340635.6_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGAGAGCTTGGGAGAAACCGA	0.527000													16	69					0	0	0.520397	0	0
FANCM	57697	broad.mit.edu	37	14	45633769	45633769	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:45633769G>T	ENST00000267430.5	+	10	1873		c.e10+1		FANCM_ENST00000556036.1_Splice_Site|FANCM_ENST00000542564.2_Splice_Site	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M						DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGAGGAACGTGTAAGTAGAGC	0.423000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	14					0.000602214	0.00063762	0.184627	1	0
AIM1L	55057	broad.mit.edu	37	1	26663747	26663747	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:26663747C>G	ENST00000527815.1	-	9	1195	c.1146G>C	c.(1144-1146)cgG>cgC	p.R382R	AIM1L_ENST00000308182.5_Silent_p.R211R|AIM1L_ENST00000522993.1_5'UTR	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	211	Beta/gamma crystallin 'Greek key' 8.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGCTTACCGTCCGGATGACCC	0.602000													19	141					0	0	0.667858	0	0
PZP	5858	broad.mit.edu	37	12	9334659	9334659	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:9334659G>T	ENST00000261336.2	-	14	1629	c.1601C>A	c.(1600-1602)gCa>gAa	p.A534E	PZP_ENST00000381997.2_Missense_Mutation_p.A403E	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAACATTCGTGCAATGGGGGC	0.428000													30	21					4.31634e-10	5.42096e-10	0.760397	1	0
SYNE2	23224	broad.mit.edu	37	14	64634094	64634094	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:64634094G>T	ENST00000357395.3	+	92	17048	c.5904G>T	c.(5902-5904)ctG>ctT	p.L1968L	SYNE2_ENST00000555002.1_Silent_p.L2217L|SYNE2_ENST00000554584.1_Silent_p.L5458L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.L1968L|SYNE2_ENST00000358025.3_Silent_p.L5583L|SYNE2_ENST00000344113.4_Silent_p.L5583L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5583					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCACGGCACTGGAGCGCTGCA	0.473000													5	24					0.00116845	0.00122524	0.217242	1	0
FASN	2194	broad.mit.edu	37	17	80043140	80043140	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:80043140T>A	ENST00000306749.2	-	24	4479	c.4261A>T	c.(4261-4263)Agc>Tgc	p.S1421C		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1421					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CAGCGGAAGCTGGTATCGTCC	0.682000													7	21					0	0	0.307466	0	0
PREX2	80243	broad.mit.edu	37	8	68968167	68968167	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:68968167G>T	ENST00000288368.4	+	10	1473	c.1196G>T	c.(1195-1197)cGa>cTa	p.R399L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	399	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATCAAAGACCGAAAGAGAAAA	0.398000													50	50					9.59449e-18	1.44654e-17	0.870114	1	0
OR3A4P	390756	broad.mit.edu	37	17	3214027	3214027	+	RNA	SNP	G	G	C	rs113175375		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:3214027G>C	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							GCATGAGCTGGGGAATCCAGC	0.567000													50	58					0	0	0.870114	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829202	67829202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:67829202C>A	ENST00000433211.1	-	15	2197	c.2023G>T	c.(2023-2025)Gag>Tag	p.E675*	CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.E675*|CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.E14*	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	675					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCAACTTGCTCAGCAATCTTT	0.368000													31	51					4.14481e-20	6.49342e-20	0.819951	1	0
C6orf203	51250	broad.mit.edu	37	6	107361247	107361247	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:107361247A>G	ENST00000443043.1	+	3	973	c.298A>G	c.(298-300)Aaa>Gaa	p.K100E	C6orf203_ENST00000489790.1_3'UTR|C6orf203_ENST00000311381.5_Missense_Mutation_p.K95E|C6orf203_ENST00000405204.2_Missense_Mutation_p.K95E	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	95										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		AAAATCTACTAAAAAGTCTCT	0.383000													17	18					0	0	0.608945	0	0
C11orf87	399947	broad.mit.edu	37	11	109294493	109294493	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:109294493C>G	ENST00000327419.6	+	2	537	c.134C>G	c.(133-135)aCc>aGc	p.T45S	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	45						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGCAGCGGCACCTGCATCACG	0.652000													10	17					0	0	0.387290	0	0
DSC1	1823	broad.mit.edu	37	18	28710578	28710578	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:28710578C>A	ENST00000257198.5	-	16	2845	c.2584G>T	c.(2584-2586)Gta>Tta	p.V862L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	862					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAGCAACCTACTGAGCCGGCC	0.443000													63	62					1.74474e-33	3.17417e-33	0.870114	1	0
PRSS1	5644	broad.mit.edu	37	7	142460282	142460282	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:142460282C>A	ENST00000486171.1	+	5	514	c.496_splice	c.e5-1	p.A166_splice	PRSS1_ENST00000311737.7_Splice_Site_p.A152_splice			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	152	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATCCTCACAGCCGACTACCCA	0.512000													83	359					3.35115e-56	6.56517e-56	0.870114	1	0
MXRA5	25878	broad.mit.edu	37	X	3242051	3242051	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:3242051C>G	ENST00000217939.6	-	5	1829	c.1675G>C	c.(1675-1677)Gtg>Ctg	p.V559L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	559	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCATCCCTCACTTGAGCAATG	0.527000													6	8					0	0	0.248553	0	0
MLIP	90523	broad.mit.edu	37	6	54013880	54013880	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:54013880G>T	ENST00000514921.1	+	5	2324	c.2211G>T	c.(2209-2211)aaG>aaT	p.K737N	MLIP_ENST00000274897.5_Missense_Mutation_p.K213N|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.K748N			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	213						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAAGCTACAAGGCTTTTGCAG	0.353000													45	96					5.08636e-23	8.41157e-23	0.870114	1	0
ZNF780B	163131	broad.mit.edu	37	19	40541988	40541988	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:40541988G>A	ENST00000434248.1	-	5	843	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C	ZNF780B_ENST00000221355.6_Missense_Mutation_p.R112C	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTGAGCTACGATTAAAAGAC	0.378000													29	80					0	0	0.750413	0	0
SNAI2	6591	broad.mit.edu	37	8	49832790	49832790	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:49832790T>A	ENST00000396822.1	-	3	647	c.290A>T	c.(289-291)aAg>aTg	p.K97M	SNAI2_ENST00000020945.1_Missense_Mutation_p.K97M			O43623	SNAI2_HUMAN	snail family zinc finger 2	97					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ACTGTGGTCCTTGGAGGAGGT	0.537000													86	91					0	0	0.870114	0	0
MAML3	55534	broad.mit.edu	37	4	140810417	140810417	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:140810417C>A	ENST00000398940.1	-	4	752	c.753G>T	c.(751-753)ggG>ggT	p.G251G	MAML3_ENST00000509479.2_Intron|MAML3_ENST00000327122.5_Intron			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	0					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGCAATTAGACCCCACTACAG	0.458000													23	132					7.07758e-08	8.33931e-08	0.681144	1	0
LSM7	51690	broad.mit.edu	37	19	2324192	2324192	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:2324192C>A	ENST00000252622.9	-	3	150	c.101G>T	c.(100-102)aGt>aTt	p.S34I	LSM7_ENST00000589532.1_5'UTR	NM_016199.2	NP_057283.1	Q9UK45	LSM7_HUMAN	LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)	34					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			kidney(1)|urinary_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGATTCCACTGGCTTGGAG	0.627000													4	6					8.12818e-05	8.83968e-05	0.248553	1	0
COL21A1	81578	broad.mit.edu	37	6	55922568	55922568	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:55922568G>T	ENST00000244728.5	-	30	3158	c.2761C>A	c.(2761-2763)Cat>Aat	p.H921N	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.H287N|COL21A1_ENST00000535941.1_Missense_Mutation_p.H921N|COL21A1_ENST00000370819.1_Missense_Mutation_p.H918N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	921					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGTTTTCCATGGTCTCCATCT	0.527000													7	14					0.00307968	0.00320032	0.278610	1	0
NPY	4852	broad.mit.edu	37	7	24331291	24331291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:24331291C>A	ENST00000407573.1	+	5	569	c.279C>A	c.(277-279)gaC>gaA	p.D93E	NPY_ENST00000242152.2_Missense_Mutation_p.D93E|NPY_ENST00000405982.1_Missense_Mutation_p.D93E			P01303	NPY_HUMAN	neuropeptide Y	93					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GGCTTGAAGACCCTGCAATGT	0.438000													20	86					7.41945e-09	8.92425e-09	0.693898	1	0
SRCIN1	80725	broad.mit.edu	37	17	36704837	36704837	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:36704837T>C	ENST00000264659.7	-	17	3450	c.3226A>G	c.(3226-3228)Atc>Gtc	p.I1076V	SRCIN1_ENST00000578925.1_Missense_Mutation_p.I1110V|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	948					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCGTCCTTGATGGCCGAGGCC	0.662000													83	97					0	0	0.870114	0	0
NKAIN2	154215	broad.mit.edu	37	6	124676489	124676489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:124676489C>A	ENST00000368417.1	+	3	329	c.269C>A	c.(268-270)tCa>tAa	p.S90*	NKAIN2_ENST00000368416.1_Nonsense_Mutation_p.S90*|NKAIN2_ENST00000546092.1_Nonsense_Mutation_p.S90*|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Nonsense_Mutation_p.S75*	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	90						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GGGGACCTCTCAAAGGTAATT	0.438000													40	48					2.51966e-14	3.53545e-14	0.870114	1	0
AKAP6	9472	broad.mit.edu	37	14	33165317	33165317	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:33165317G>T	ENST00000280979.4	+	9	3170		c.e9+1		AKAP6_ENST00000557354.1_Splice_Site|AKAP6_ENST00000557272.1_Splice_Site	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6						protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTTTACAAGGTTAGAGCTAC	0.473000													24	41					7.26314e-15	1.03241e-14	0.717897	1	0
PCDH7	5099	broad.mit.edu	37	4	30725906	30725906	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:30725906G>C	ENST00000361762.2	+	1	3870	c.2862G>C	c.(2860-2862)gtG>gtC	p.V954V	PCDH7_ENST00000543491.1_Silent_p.V954V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	954					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTGTCACTGTGGAGGCTTCTA	0.453000													45	52					0	0	0.870114	0	0
OTOF	9381	broad.mit.edu	37	2	26781373	26781373	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:26781373C>A	ENST00000272371.2	-	1	193	c.67G>T	c.(67-69)Gtg>Ttg	p.V23L	OTOF_ENST00000403946.3_Missense_Mutation_p.V23L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	23					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAAAGTCACTTTGGCGATC	0.652000													24	109					2.12542e-12	2.83052e-12	0.706142	1	0
MAEL	84944	broad.mit.edu	37	1	166990373	166990373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:166990373G>T	ENST00000367872.4	+	11	1337	c.1093G>T	c.(1093-1095)Gaa>Taa	p.E365*	MAEL_ENST00000367870.2_Nonsense_Mutation_p.E334*|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	365					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTCTAATGAGGAACAAAGATC	0.363000													10	59					0.00244969	0.00255377	0.457914	1	0
CXCL12	6387	broad.mit.edu	37	10	44873302	44873302	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:44873302G>C	ENST00000395794.2	-	4	361	c.318C>G	c.(316-318)gcC>gcG	p.A106A	CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	AGGGATGCAGGGCACGAGCCC	0.622000													8	2					0	0	0.278610	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54649010	54649010	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:54649010G>T	ENST00000230640.5	+	14	1700	c.1446G>T	c.(1444-1446)acG>acT	p.T482T	SKIV2L2_ENST00000545714.1_Silent_p.T381T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	482	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TATTTGCCACGGAGACCTTTG	0.313000													30	46					6.48837e-15	9.29683e-15	0.853193	1	0
AEBP1	165	broad.mit.edu	37	7	44152432	44152432	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:44152432C>T	ENST00000223357.3	+	18	2798	c.2493C>T	c.(2491-2493)cgC>cgT	p.R831R	AEBP1_ENST00000450684.2_Silent_p.R406R	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	831	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGCCCTACCGCGGAGGCTGCC	0.672000													15	64					0	0	0.539581	0	0
ALB	213	broad.mit.edu	37	4	74275095	74275095	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:74275095G>T	ENST00000295897.4	+	5	595	c.506G>T	c.(505-507)aGa>aTa	p.R169I	ALB_ENST00000503124.1_Missense_Mutation_p.R19I|ALB_ENST00000401494.3_Missense_Mutation_p.R54I|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.R169I|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	169	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATTGCCAGAAGACATCCTTAC	0.353000													30	39					4.14481e-20	6.49342e-20	0.819951	1	0
ADNP	23394	broad.mit.edu	37	20	49510110	49510110	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:49510110C>T	ENST00000396029.3	-	5	1708	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R	ADNP_ENST00000371602.4_Missense_Mutation_p.G381R|ADNP_ENST00000349014.3_Missense_Mutation_p.G381R|ADNP_ENST00000396032.3_Missense_Mutation_p.G381R	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	381						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TGCTCTGACCCAAGCCCATAA	0.517000													17	86					0	0	0.557998	0	0
SCN3A	6328	broad.mit.edu	37	2	166003333	166003333	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:166003333T>C	ENST00000360093.3	-	12	2078	c.1587A>G	c.(1585-1587)gaA>gaG	p.E529E	SCN3A_ENST00000283254.7_Silent_p.E529E|SCN3A_ENST00000409101.3_Silent_p.E529E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	529						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGACGCTGTCTTCAGATTCGG	0.433000													5	120					0	0	0.184627	0	0
LRP2	4036	broad.mit.edu	37	2	170101382	170101382	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:170101382C>A	ENST00000263816.3	-	22	3536	c.3251G>T	c.(3250-3252)tGg>tTg	p.W1084L	LRP2_ENST00000443831.1_Missense_Mutation_p.W947L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1084	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCACAGCGCCAGTGTGCAGG	0.502000													32	140					4.11147e-13	5.58534e-13	0.788014	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906700	164906700	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:164906700G>T	ENST00000475390.1	-	2	2362	c.1919C>A	c.(1918-1920)tCa>tAa	p.S640*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.S640*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	640						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCATAAGGTGATGCACTGGT	0.532000										HNSCC(40;0.11)			12	29					0.000219431	0.000235766	0.457914	1	0
CDHR2	54825	broad.mit.edu	37	5	176008578	176008578	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:176008578G>T	ENST00000510636.1	+	17	2327	c.2053G>T	c.(2053-2055)Gtg>Ttg	p.V685L	CDHR2_ENST00000506348.1_Missense_Mutation_p.V685L|CDHR2_ENST00000261944.5_Missense_Mutation_p.V685L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	685	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CACCATCACTGTGGAGGTAAG	0.637000													27	37					9.80776e-20	1.5292e-19	0.706142	1	0
CILP2	148113	broad.mit.edu	37	19	19654684	19654684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:19654684G>T	ENST00000586018.1	+	8	1450	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*	CILP2_ENST00000291495.4_Nonsense_Mutation_p.E444*			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	444						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCGCCGTCTGGAGAGAAGGGA	0.701000													10	7					2.17888e-05	2.40289e-05	0.335167	1	0
ANKRD11	29123	broad.mit.edu	37	16	89348373	89348373	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:89348373C>A	ENST00000301030.4	-	9	5037	c.4577G>T	c.(4576-4578)gGc>gTc	p.G1526V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1526V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1526	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTGGCATCGCCGAGCCTCGG	0.592000													14	69					0.0332995	0.0338163	0.520397	1	0
ARHGAP6	395	broad.mit.edu	37	X	11308580	11308580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:11308580G>A	ENST00000380732.3	-	2	606	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron			O43182	RHG06_HUMAN	Rho GTPase activating protein 6	196					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCTAAGATCTGAAGATCATAC	0.363000													22	25					0	0	0.681144	0	0
GJC3	349149	broad.mit.edu	37	7	99526463	99526463	+	Splice_Site	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:99526463C>G	ENST00000312891.2	-	1	780	c.781_splice	c.e1+1	p.V261_splice		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	261						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCCTTCTCACCTGCTTCTTGA	0.488000													37	54					0	0	0.870114	0	0
CROCC	9696	broad.mit.edu	37	1	17265550	17265550	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:17265550C>A	ENST00000375541.5	+	12	1590	c.1521C>A	c.(1519-1521)ccC>ccA	p.P507P	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	507					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCGTTCACCCCGCCGAGGCC	0.746000													4	26					0.00909568	0.00932367	0.150653	1	0
GPATCH2L	55668	broad.mit.edu	37	14	76621204	76621204	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:76621204G>T	ENST00000261530.7	+	2	564	c.498G>T	c.(496-498)caG>caT	p.Q166H	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.Q166H|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.Q166H|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.Q166H	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		CTAAGAAGCAGCGTCTGTCCC	0.512000													8	20					7.48243e-07	8.56943e-07	0.335167	1	0
CSHL1	1444	broad.mit.edu	37	17	61987661	61987661	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:61987661A>T	ENST00000450719.3	-	3	287	c.50T>A	c.(49-51)cTg>cAg	p.L17Q	CSHL1_ENST00000561003.1_Missense_Mutation_p.L28Q|CSHL1_ENST00000438387.2_Missense_Mutation_p.L28Q|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.L17Q|CSHL1_ENST00000309894.5_Missense_Mutation_p.L111Q|CSHL1_ENST00000259003.10_Missense_Mutation_p.L49Q			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	111						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GATGAGCAGCAGGGAGATGTG	0.627000													33	45					0	0	0.812448	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104961438	104961438	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:104961438G>T	ENST00000372582.1	+	7	1607	c.851G>T	c.(850-852)gGa>gTa	p.G284V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G284V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	284	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGATGAAAGGAGAAAAGTTT	0.418000													63	25					2.54232e-27	4.40085e-27	0.870114	1	0
AQP10	89872	broad.mit.edu	37	1	154295835	154295835	+	Splice_Site	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:154295835G>C	ENST00000484864.1	+	4	525	c.489_splice	c.e4+1	p.Q163_splice	AQP10_ENST00000324978.3_Splice_Site_p.Q163_splice|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	163					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTGGATCAGGTAAGTGTGA	0.567000													76	100					0	0	0.870114	0	0
NPY	4852	broad.mit.edu	37	7	24329179	24329179	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:24329179G>A	ENST00000407573.1	+	4	540	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	NPY_ENST00000242152.2_Missense_Mutation_p.E84K|NPY_ENST00000405982.1_Missense_Mutation_p.E84K			P01303	NPY_HUMAN	neuropeptide Y	84					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						AGAAAGCACAGAAAATGTTCC	0.463000													5	96					0	0	0.278610	0	0
CSMD3	114788	broad.mit.edu	37	8	113960056	113960056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:113960056C>A	ENST00000297405.5	-	9	1715	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E451*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E491*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.E387*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	491	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTTCTGGTTCTCCTGGATCT	0.299000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	120					1.2644e-06	1.44236e-06	0.592651	1	0
COL15A1	1306	broad.mit.edu	37	9	101748253	101748253	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:101748253G>T	ENST00000375001.3	+	3	930	c.507G>T	c.(505-507)caG>caT	p.Q169H		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	169	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGATTGTCCAGGGTGAGGAAG	0.597000													33	50					1.5731e-28	2.76207e-28	0.859065	1	0
THPO	7066	broad.mit.edu	37	3	184090702	184090702	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:184090702A>T	ENST00000204615.7	-	6	875	c.661T>A	c.(661-663)Tgg>Agg	p.W221R	THPO_ENST00000421442.2_Missense_Mutation_p.V182E|THPO_ENST00000477594.1_5'UTR|THPO_ENST00000445696.2_Missense_Mutation_p.W217R|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	221					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCTGCTGCCACTTCAGAAGC	0.522000													20	28					0	0	0.575678	0	0
NT5C1A	84618	broad.mit.edu	37	1	40124892	40124892	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:40124892C>A	ENST00000235628.1	-	6	1007	c.1008G>T	c.(1006-1008)ggG>ggT	p.G336G		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	336					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCTCCTGAGCCCCAGCCACAT	0.597000													17	37					1.02788e-11	1.35601e-11	0.520397	1	0
HIST1H3D	8351	broad.mit.edu	37	6	26197475	26197475	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:26197475C>A	ENST00000377831.5	-	2	457	c.4G>T	c.(4-6)Gct>Tct	p.A2S	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.A2S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	2					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TTGGTACGAGCCATTGCGAAC	0.542000													15	89					3.52763e-06	3.97745e-06	0.520397	1	0
KLHL38	340359	broad.mit.edu	37	8	124664983	124664983	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:124664983T>C	ENST00000325995.7	-	1	207	c.184A>G	c.(184-186)Atg>Gtg	p.M62V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	62	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CTGCAGAACATAGCCCTGAAG	0.597000													11	73					0	0	0.411799	0	0
CSE1L	1434	broad.mit.edu	37	20	47688840	47688840	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:47688840C>A	ENST00000262982.2	+	9	909	c.786C>A	c.(784-786)ggC>ggA	p.G262G	CSE1L_ENST00000396192.3_Intron|CSE1L_ENST00000542325.1_Silent_p.G45G	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	262					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGGAAGCCGGCTTATTGGAGC	0.393000													13	59					3.45872e-05	3.80362e-05	0.500413	1	0
OR5AC2	81050	broad.mit.edu	37	3	97806733	97806733	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:97806733C>G	ENST00000358642.2	+	1	717	c.717C>G	c.(715-717)gcC>gcG	p.A239A		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GAAGCAAAGCCTTCTCCACAT	0.418000													14	34					0	0	0.500413	0	0
ACE	1636	broad.mit.edu	37	17	61561794	61561794	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:61561794C>T	ENST00000290866.4	+	12	1837	c.1813C>T	c.(1813-1815)Cca>Tca	p.P605S	ACE_ENST00000428043.1_Missense_Mutation_p.P605S	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	605	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTACTTCCAGCCAGTCACCCA	0.652000													5	24					0	0	0.248553	0	0
FBN2	2201	broad.mit.edu	37	5	127730865	127730865	+	Missense_Mutation	SNP	C	C	A	rs150790914		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:127730865C>A	ENST00000508053.1	-	15	2155	c.1181G>T	c.(1180-1182)cGc>cTc	p.R394L	FBN2_ENST00000262464.4_Missense_Mutation_p.R394L|FBN2_ENST00000508989.1_Missense_Mutation_p.R361L			P35556	FBN2_HUMAN	fibrillin 2	394	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCCCAGCAGCGGCCAGGCTC	0.562000													22	21					1.40151e-16	2.08264e-16	0.592651	1	0
CFHR3	10878	broad.mit.edu	37	1	196749043	196749043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:196749043C>T	ENST00000471440.2	+	3	444	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	CFHR3_ENST00000391985.3_Nonsense_Mutation_p.Q124*|CFHR3_ENST00000367425.4_Nonsense_Mutation_p.Q124*					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TCCAAAAGCGCAGACCACAGT	0.448000													14	50					0	0	0.457914	0	0
OR7D4	125958	broad.mit.edu	37	19	9325115	9325115	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9325115C>A	ENST00000308682.2	-	1	427	c.399G>T	c.(397-399)acG>acT	p.T133T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	133			T -> M (impaired response to androstenone and androstadienone; when associated with W-88; dbSNP:rs5020278).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCATGATGACCGTGTAGTGCA	0.483000													18	47					7.87624e-14	1.09343e-13	0.639603	1	0
MUC4	4585	broad.mit.edu	37	3	195515689	195515689	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:195515689G>C	ENST00000463781.3	-	2	3221	c.2762C>G	c.(2761-2763)aCt>aGt	p.T921S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T921S|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	926	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGCTGATAGTGTCAGACCC	0.582000													11	87					0	0	0.457914	0	0
OR52E8	390079	broad.mit.edu	37	11	5878369	5878369	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:5878369C>A	ENST00000537935.1	-	1	595	c.564G>T	c.(562-564)atG>atT	p.M188I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCAATGCCCATGTGCTCAC	0.478000													48	53					1.48341e-19	2.30557e-19	0.870114	1	0
OR14I1	401994	broad.mit.edu	37	1	248845536	248845536	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:248845536G>T	ENST00000342623.3	-	1	93	c.70C>A	c.(70-72)Ctg>Atg	p.L24M		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CCGGCGTGCAGCACCTGCAGC	0.493000													12	40					1.15088e-07	1.34555e-07	0.500413	1	0
SVOPL	136306	broad.mit.edu	37	7	138347843	138347843	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:138347843C>A	ENST00000419765.3	-	4	354	c.321G>T	c.(319-321)ctG>ctT	p.L107L	SVOPL_ENST00000288513.5_5'UTR|SVOPL_ENST00000436657.1_5'UTR|SVOPL_ENST00000421622.1_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	107						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ATCTGTCAGCCAGGAGGCCAA	0.458000													16	47					8.81451e-21	1.39878e-20	0.575678	1	0
CCDC67	159989	broad.mit.edu	37	11	93127763	93127763	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:93127763C>A	ENST00000298050.3	+	10	1280	c.1180C>A	c.(1180-1182)Ctg>Atg	p.L394M	CCDC67_ENST00000525646.1_Missense_Mutation_p.L136M	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	394										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGCTGCCCTTCTGGAAAAACA	0.383000													7	19					3.09899e-07	3.59534e-07	0.307466	1	0
NFAM1	150372	broad.mit.edu	37	22	42807430	42807430	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:42807430G>A	ENST00000329021.5	-	2	471	c.434C>T	c.(433-435)aCc>aTc	p.T145I		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	145	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						CAGGATGAAGGTGCCGCTGCC	0.577000													6	11					0	0	0.217242	0	0
NAB1	4664	broad.mit.edu	37	2	191537847	191537847	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:191537847A>G	ENST00000337386.5	+	6	1435	c.974A>G	c.(973-975)gAt>gGt	p.D325G	NAB1_ENST00000484774.1_Intron|NAB1_ENST00000357215.5_Missense_Mutation_p.D325G|NAB1_ENST00000545490.1_Missense_Mutation_p.D95G|NAB1_ENST00000409581.1_Missense_Mutation_p.D325G|NAB1_ENST00000409641.1_Missense_Mutation_p.D325G	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	325	Necessary for nuclear localization (By similarity).				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GGAGAAAGAGATGAATTATCC	0.323000													27	42					0	0	0.812448	0	0
F11	2160	broad.mit.edu	37	4	187207644	187207644	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:187207644G>C	ENST00000264692.4	+	13	1733	c.1400G>C	c.(1399-1401)tGg>tCg	p.W467S	RP11-215A19.1_ENST00000505103.1_RNA|F11_ENST00000403665.2_Missense_Mutation_p.W519S			P03951	FA11_HUMAN	coagulation factor XI	519	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GTGACTGGATGGGGGTACAGA	0.398000													54	78					0	0	0.870114	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816192	23816192	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:23816192T>A	ENST00000264867.2	-	8	1033	c.914A>T	c.(913-915)aAc>aTc	p.N305I	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	305	Interaction with PPARG.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTTATCTTGGTTGGCTTTATG	0.428000													8	39					0	0	0.307466	0	0
DMXL2	23312	broad.mit.edu	37	15	51792375	51792375	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:51792375C>A	ENST00000251076.5	-	18	3333	c.3046G>T	c.(3046-3048)Gtt>Ttt	p.V1016F	DMXL2_ENST00000543779.2_Missense_Mutation_p.V1016F|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1016						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAAGTTGTAACCACTAAATAA	0.333000													22	21					6.21321e-17	9.26788e-17	0.639603	1	0
DCHS2	54798	broad.mit.edu	37	4	155249299	155249299	+	Missense_Mutation	SNP	C	C	A	rs142035311	by1000genomes	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:155249299C>A	ENST00000357232.3	-	12	2598	c.2599G>T	c.(2599-2601)Gca>Tca	p.A867S	DCHS2_ENST00000339452.1_Missense_Mutation_p.A1322S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	867	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGATCCTTTGCAAACACAGTT	0.343000													20	87					2.44723e-14	3.43628e-14	0.681144	1	0
OR1C1	26188	broad.mit.edu	37	1	247920787	247920787	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:247920787A>C	ENST00000408896.2	-	1	1195	c.922T>G	c.(922-924)Tgc>Ggc	p.C308G		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGACTGTGCACTTGAGAAGC	0.398000													30	97					0	0	0.788014	0	0
C11orf57	55216	broad.mit.edu	37	11	111951224	111951224	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:111951224C>G	ENST00000532163.1	+	4	941	c.175C>G	c.(175-177)Ctt>Gtt	p.L59V	C11orf57_ENST00000530104.1_Missense_Mutation_p.L88V|C11orf57_ENST00000280352.9_Missense_Mutation_p.L88V|C11orf57_ENST00000420986.2_Missense_Mutation_p.L88V|C11orf57_ENST00000393047.3_Missense_Mutation_p.L88V			Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	88										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGATGATTTTCTTAAGGCTAA	0.378000													4	88					0	0	0.184627	0	0
FAM131A	131408	broad.mit.edu	37	3	184062306	184062306	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:184062306G>C	ENST00000310585.4	+	3	1920	c.556G>C	c.(556-558)Ggg>Cgg	p.G186R	FAM131A_ENST00000450976.1_Missense_Mutation_p.G132R|FAM131A_ENST00000453072.1_Missense_Mutation_p.G132R|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Missense_Mutation_p.G132R|FAM131A_ENST00000418281.1_Missense_Mutation_p.G94R|FAM131A_ENST00000383847.2_Missense_Mutation_p.G217R			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	186						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGCCCCTGGGGCCGCACCT	0.632000													56	92					0	0	0.870114	0	0
ESRP2	80004	broad.mit.edu	37	16	68264813	68264813	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:68264813G>T	ENST00000473183.2	-	13	2367	c.1829C>A	c.(1828-1830)cCc>cAc	p.P610H	ESRP2_ENST00000565858.1_Missense_Mutation_p.P620H			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	620					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						AACAGGGGTGGGGGCAGCAGG	0.582000													6	128					3.59834e-05	3.94831e-05	0.217242	1	0
ZNF536	9745	broad.mit.edu	37	19	30935540	30935540	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:30935540G>A	ENST00000355537.3	+	2	1218	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGCCAGGCGTGGTTCCTCA	0.652000													32	120					0	0	0.834066	0	0
RNF31	55072	broad.mit.edu	37	14	24619890	24619890	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:24619890G>T	ENST00000324103.6	+	8	1601	c.1281G>T	c.(1279-1281)tgG>tgT	p.W427C	RNF31_ENST00000559275.1_Missense_Mutation_p.W276C|RNF31_ENST00000382687.3_Missense_Mutation_p.W276C	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	427	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCCCTGGCTGGGTGTGTGTTA	0.587000													95	127					6.51881e-58	1.28607e-57	0.870114	1	0
MSH4	4438	broad.mit.edu	37	1	76272757	76272757	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:76272757G>T	ENST00000263187.3	+	3	623	c.519G>T	c.(517-519)atG>atT	p.M173I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	173					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAATAGGAATGGCAAGTATTG	0.383000								Mismatch excision repair (MMR)					45	70					1.86633e-21	2.99805e-21	0.870114	1	0
PLCH1	23007	broad.mit.edu	37	3	155199374	155199374	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:155199374G>C	ENST00000460012.1	-	23	4708	c.4351C>G	c.(4351-4353)Cct>Gct	p.P1451A	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1451A|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1489A|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1451A			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1489					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATTTGCAAGGACTAGGCAGT	0.468000													7	86					0	0	0.307466	0	0
SYT6	148281	broad.mit.edu	37	1	114641766	114641766	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:114641766C>A	ENST00000393296.1	-	5	1391	c.1314G>T	c.(1312-1314)ccG>ccT	p.P438P	SYT6_ENST00000369547.1_Silent_p.P353P			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	438	C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.P353P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTTTTCCGGGGGAATGT	0.483000													64	115					9.25274e-37	1.71674e-36	0.870114	1	0
TTC40	54777	broad.mit.edu	37	10	134626392	134626392	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:134626392C>A	ENST00000368586.5	-	55	7498	c.7398G>T	c.(7396-7398)caG>caT	p.Q2466H	TTC40_ENST00000263170.5_Missense_Mutation_p.Q627H	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	627										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCTGCTCCCACTGGGCCTGGC	0.577000													15	17					1.52009e-12	2.03821e-12	0.479597	1	0
LOC645752	645752	broad.mit.edu	37	15	78212154	78212154	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:78212154C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							ATGTTCGAGCCTGCCCAAAGC	0.547000													65	60					1.34568e-36	2.49204e-36	0.870114	1	0
LHX1	3975	broad.mit.edu	37	17	35300213	35300213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:35300213C>A	ENST00000254457.5	+	5	2417	c.1006C>A	c.(1006-1008)Ccg>Acg	p.P336T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	336					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GGGCCACCACCCGTCGAGCGA	0.731000													5	16					0.014758	0.0150571	0.184627	1	0
BPI	671	broad.mit.edu	37	20	36948612	36948612	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:36948612G>C	ENST00000262865.4	+	7	793	c.704G>C	c.(703-705)gGa>gCa	p.G235A	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	235					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTGTGGCTGGAATCAACTAT	0.507000													30	36					0	0	0.819951	0	0
FSTL5	56884	broad.mit.edu	37	4	162376270	162376270	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:162376270A>G	ENST00000306100.5	-	15	2163	c.1727T>C	c.(1726-1728)cTg>cCg	p.L576P	FSTL5_ENST00000536695.1_Missense_Mutation_p.L575P|FSTL5_ENST00000427802.2_Missense_Mutation_p.L566P|FSTL5_ENST00000379164.4_Missense_Mutation_p.L575P	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	576						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCCACTGGCCAGGGTAATTAC	0.403000													23	42					0	0	0.740014	0	0
ADSS	159	broad.mit.edu	37	1	244580977	244580977	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:244580977C>A	ENST00000366535.3	-	10	1339	c.1023G>T	c.(1021-1023)ttG>ttT	p.L341F		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	341					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	AAACGAGGTCCAACCAGCCAC	0.363000													15	45					2.32078e-09	2.85088e-09	0.479597	1	0
PRRC2A	7916	broad.mit.edu	37	6	31602958	31602958	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:31602958G>A	ENST00000376033.2	+	22	5444	c.5210G>A	c.(5209-5211)cGa>cAa	p.R1737Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1737Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1737	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGCACAGAACGATCACAGCGT	0.607000													7	120					0	0	0.307466	0	0
MYH8	4626	broad.mit.edu	37	17	10323346	10323346	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:10323346C>T	ENST00000403437.2	-	3	293	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	67	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCCACCTTCAGTCTTTACG	0.423000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				103	100					0	0	0.870114	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135926215	135926215	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:135926215G>T	ENST00000264158.8	+	24	2853	c.2810G>T	c.(2809-2811)cGg>cTg	p.R937L	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.R944L|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.R893L|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	937						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CCTGCTGGCCGGGAATTCATT	0.557000													22	95					9.80776e-20	1.5292e-19	0.706142	1	0
ELL2	22936	broad.mit.edu	37	5	95242315	95242315	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:95242315G>A	ENST00000237853.4	-	5	1002	c.653C>T	c.(652-654)gCc>gTc	p.A218V	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	218					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTTCTTGTAGGCCTTCAGGGC	0.493000													49	51					0	0	0.870114	0	0
PHRF1	57661	broad.mit.edu	37	11	608231	608231	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:608231C>A	ENST00000264555.5	+	14	2903	c.2775C>A	c.(2773-2775)agC>agA	p.S925R	PHRF1_ENST00000533464.1_Missense_Mutation_p.S921R|PHRF1_ENST00000416188.2_Missense_Mutation_p.S924R|PHRF1_ENST00000413872.2_Missense_Mutation_p.S923R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	925							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCACAGAGAGCCAGGGCCTGG	0.697000													6	8					0.00116845	0.00122524	0.217242	1	0
ZNF516	9658	broad.mit.edu	37	18	74074514	74074514	+	Splice_Site	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:74074514T>A	ENST00000443185.2	-	8	3750		c.e8-2		ZNF516_ENST00000524431.2_Splice_Site	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GTCTCTCCCCTGGGTGAGAAA	0.463000													9	10					0	0	0.335167	0	0
RTTN	25914	broad.mit.edu	37	18	67864942	67864942	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:67864942C>A	ENST00000255674.6	-	6	897	c.611G>T	c.(610-612)tGg>tTg	p.W204L	RTTN_ENST00000437017.1_Missense_Mutation_p.W204L|RTTN_ENST00000454359.1_Missense_Mutation_p.W204L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	204							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACAGGTGTTCCAGATTAAAGT	0.358000													16	35					6.94344e-10	8.6375e-10	0.539581	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33588773	33588773	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:33588773G>T	ENST00000504830.1	-	18	3131	c.2796C>A	c.(2794-2796)ccC>ccA	p.P932P	ADAMTS12_ENST00000352040.3_Silent_p.P847P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	932	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGAGGGTCTTGGGCTTCAGCA	0.632000										HNSCC(64;0.19)			111	69					3.52255e-68	6.99168e-68	0.870114	1	0
RYR2	6262	broad.mit.edu	37	1	237659886	237659886	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:237659886G>T	ENST00000366574.2	+	20	2354	c.2037G>T	c.(2035-2037)gtG>gtT	p.V679V	RYR2_ENST00000360064.6_Silent_p.V677V|RYR2_ENST00000542537.1_Silent_p.V663V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	679	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATTGATGGTGGACCACACAG	0.493000													16	28					3.41278e-10	4.30823e-10	0.520397	1	0
SPDL1	54908	broad.mit.edu	37	5	169021409	169021409	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:169021409A>T	ENST00000265295.4	+	6	972	c.693A>T	c.(691-693)gtA>gtT	p.V231V	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AAGCTCGTGTAGCAAATCAAG	0.358000													33	43					0	0	0.812448	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290594	78290594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:78290594C>A	ENST00000300584.3	-	13	2799	c.2800G>T	c.(2800-2802)Gag>Tag	p.E934*	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_3'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	934						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GCCTCCAGCTCGGTCAGCTCC	0.617000													7	6					0.000274275	0.000292451	0.307466	1	0
OVOS2	144203	broad.mit.edu	37	12	31267722	31267722	+	RNA	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:31267722A>G	ENST00000542490.1	-	0	757																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						TTATCTTTATACTCTATGTAG	0.318000													5	25					0	0	0.217242	0	0
AATK	9625	broad.mit.edu	37	17	79094916	79094916	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:79094916G>A	ENST00000326724.4	-	11	2844	c.2820C>T	c.(2818-2820)gaC>gaT	p.D940D	AATK_ENST00000417379.1_Silent_p.D837D	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	940						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGTTCTCGGTGTCATAGCCAC	0.647000													4	14					0	0	0.248553	0	0
SSPO	23145	broad.mit.edu	37	7	149519663	149519663	+	RNA	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:149519663C>T	ENST00000378016.2	+	0	13153							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGGTGCAGCAGCGCTACCG	0.697000													10	13					0	0	0.435327	0	0
SSTR5	6755	broad.mit.edu	37	16	1129194	1129194	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:1129194C>A	ENST00000293897.4	+	1	414	c.326C>A	c.(325-327)cCc>cAc	p.P109H	SSTR5_ENST00000397547.2_Missense_Mutation_p.P109H|SSTR5_ENST00000562758.1_Missense_Mutation_p.P109H	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	109			P -> S (in dbSNP:rs4988487).		negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCCTTCGGCCCCGTCCTGTGC	0.622000													20	18					2.98393e-07	3.468e-07	0.639603	1	0
FARP2	9855	broad.mit.edu	37	2	242343281	242343281	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:242343281G>C	ENST00000264042.3	+	3	392	c.222G>C	c.(220-222)tgG>tgC	p.W74C	FARP2_ENST00000373287.4_Missense_Mutation_p.W74C|FARP2_ENST00000545004.1_Missense_Mutation_p.W74C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	74	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CACAAGTGTGGAAGCGTTTAA	0.453000													38	55					0	0	0.870114	0	0
TRAV5	28688	broad.mit.edu	37	14	22217887	22217887	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:22217887C>A	ENST00000390427.3	+	0	250																											GAAACAAGACCAAAGACTCAC	0.433000													15	37					6.72482e-11	8.66765e-11	0.479597	1	0
KLF14	136259	broad.mit.edu	37	7	130418064	130418064	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:130418064C>A	ENST00000310992.4	-	1	824	c.797G>T	c.(796-798)cGg>cTg	p.R266L		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GTGGTCGCTCCGGGAGAACTG	0.632000													11	22					2.68362e-12	3.56907e-12	0.411799	1	0
PADI4	23569	broad.mit.edu	37	1	17668440	17668440	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:17668440G>T	ENST00000375448.4	+	7	681	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	219					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCTCCTAGGGGGCAAACTGTC	0.577000													7	16					1.26484e-09	1.56157e-09	0.278610	1	0
KIAA1683	80726	broad.mit.edu	37	19	18375740	18375740	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:18375740C>A	ENST00000392413.3	-	3	2825	c.2610G>T	c.(2608-2610)gaG>gaT	p.E870D	KIAA1683_ENST00000600328.2_Missense_Mutation_p.E870D|KIAA1683_ENST00000600359.2_Missense_Mutation_p.E824D	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	870						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTACCGTGTCCTCCTGGCAGG	0.642000													8	26					4.68919e-08	5.54511e-08	0.361761	1	0
FMO1	2326	broad.mit.edu	37	1	171254536	171254536	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:171254536C>A	ENST00000354841.4	+	8	1583	c.1452C>A	c.(1450-1452)gcC>gcA	p.A484A	FMO1_ENST00000402921.2_Silent_p.A421A|FMO1_ENST00000367750.3_Silent_p.A484A|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	484					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGAAGGAGCCAGAAATGCCA	0.493000													8	32					0.0477658	0.048357	0.307466	1	0
PLTP	5360	broad.mit.edu	37	20	44533604	44533604	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:44533604G>T	ENST00000542937.1	-	8	1453	c.919C>A	c.(919-921)Cag>Aag	p.Q307K	PLTP_ENST00000372420.1_Missense_Mutation_p.Q199K|PLTP_ENST00000372431.3_Missense_Mutation_p.Q287K|PLTP_ENST00000477313.1_Missense_Mutation_p.Q287K|PLTP_ENST00000420868.2_Missense_Mutation_p.Q192K|PLTP_ENST00000354050.4_Missense_Mutation_p.Q235K			P55058	PLTP_HUMAN	phospholipid transfer protein	287					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGCAACAGCTGCAGGGCCCCC	0.592000													8	80					4.36969e-10	5.47746e-10	0.435327	1	0
WBSCR17	64409	broad.mit.edu	37	7	70881041	70881041	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:70881041C>A	ENST00000333538.5	+	4	1390	c.756C>A	c.(754-756)acC>acA	p.T252T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	252	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGAATTCACCGCTGGCTGGT	0.567000													31	98					5.20837e-25	8.85197e-25	0.840704	1	0
HIPK3	10114	broad.mit.edu	37	11	33361044	33361044	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:33361044A>G	ENST00000303296.4	+	6	1882	c.1577A>G	c.(1576-1578)aAt>aGt	p.N526S	HIPK3_ENST00000525975.1_Missense_Mutation_p.N526S|HIPK3_ENST00000379016.3_Missense_Mutation_p.N526S|HIPK3_ENST00000456517.1_Missense_Mutation_p.N526S	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	526					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCTTTTGTTAATATGAAACAT	0.333000													32	82					0	0	0.870114	0	0
HDAC9	9734	broad.mit.edu	37	7	18993771	18993771	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:18993771G>A	ENST00000406451.3	+	24	3081	c.2931G>A	c.(2929-2931)ctG>ctA	p.L977L	HDAC9_ENST00000441542.2_Silent_p.L980L|HDAC9_ENST00000432645.2_Silent_p.L977L|HDAC9_ENST00000401921.1_Silent_p.L936L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	977	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCTTGCAGCTGGAGCCACTTG	0.348000													5	10					0	0	0.217242	0	0
ZNF267	10308	broad.mit.edu	37	16	31927349	31927349	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:31927349G>T	ENST00000300870.10	+	4	1988	c.1779G>T	c.(1777-1779)gtG>gtT	p.V593V	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	593					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTCTTACTGTGCATCGGCGAA	0.383000													13	36					2.61681e-11	3.41998e-11	0.457914	1	0
MSC	9242	broad.mit.edu	37	8	72755914	72755914	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:72755914C>A	ENST00000325509.4	-	1	789	c.500G>T	c.(499-501)cGc>cTc	p.R167L	RP11-383H13.1_ENST00000537896.1_Missense_Mutation_p.A93E|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	167					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GTTCTCATAGCGGTCCTCCTG	0.662000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	87					4.26978e-12	5.64796e-12	0.654019	1	0
REG1P	5969	broad.mit.edu	37	2	79363196	79363196	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:79363196G>T	ENST00000444841.1	-	0	1142																											CACTGATAATGGCAGTTCTAG	0.512000													26	20					2.20474e-14	3.10243e-14	0.788014	1	0
FNDC1	84624	broad.mit.edu	37	6	159655434	159655434	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:159655434C>A	ENST00000297267.9	+	11	4090	c.3890C>A	c.(3889-3891)tCc>tAc	p.S1297Y	FNDC1_ENST00000340366.6_Missense_Mutation_p.S1234Y	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1297						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCGATGCTGTCCTTGCGCCAG	0.622000													12	46					0.000219431	0.000235766	0.457914	1	0
FRAS1	80144	broad.mit.edu	37	4	79462002	79462002	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:79462002G>C	ENST00000264895.6	+	74	12203	c.11763G>C	c.(11761-11763)ttG>ttC	p.L3921F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3916					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGTGTTTTTGGTGGCTTGTT	0.498000													4	34					0	0	0.184627	0	0
LINC00842	643650	broad.mit.edu	37	10	47133384	47133384	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:47133384C>A	ENST00000422732.2	-	0	435					NR_033957.1																						CCGCCAATAGCCACCTTGGTT	0.483000													18	104					1.2644e-06	1.44236e-06	0.592651	1	0
CACNA1B	774	broad.mit.edu	37	9	140968491	140968491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:140968491C>A	ENST00000277549.5	+	34	4981	c.2412C>A	c.(2410-2412)ttC>ttA	p.F804L	CACNA1B_ENST00000277551.2_Missense_Mutation_p.F1610L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F1611L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F1609L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F1608L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.F1610L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1610					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCATGCTGTTCTTCATCTACG	0.647000													72	72					5.70515e-31	1.02369e-30	0.870114	1	0
LRRCC1	85444	broad.mit.edu	37	8	86037083	86037083	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:86037083T>C	ENST00000414626.2	+	7	2010	c.1121T>C	c.(1120-1122)tTa>tCa	p.L374S	LRRCC1_ENST00000360375.3_Missense_Mutation_p.L394S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	394					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGCTCATCTTTAGCAAACTGT	0.308000													7	143					0	0	0.307466	0	0
PTGER3	5733	broad.mit.edu	37	1	71418623	71418623	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:71418623C>T	ENST00000356595.4	-	4	1434	c.1224G>A	c.(1222-1224)gtG>gtA	p.V408V	PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TTCTGGTGTACACATTAATGC	0.423000													31	167					0	0	0.769981	0	0
DGKD	8527	broad.mit.edu	37	2	234359615	234359615	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:234359615C>G	ENST00000264057.2	+	17	2098	c.2086C>G	c.(2086-2088)Cta>Gta	p.L696V	DGKD_ENST00000409813.3_Missense_Mutation_p.L652V	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	696					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GAGTCTGTCCCTAGGCAGTTC	0.557000													12	155					0	0	0.411799	0	0
XDH	7498	broad.mit.edu	37	2	31611154	31611154	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:31611154C>T	ENST00000379416.3	-	7	551	c.503G>A	c.(502-504)gGa>gAa	p.G168E	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	168					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCCACAGCATCCACCATCCTA	0.438000													12	63					0	0	0.520397	0	0
FBXW2	26190	broad.mit.edu	37	9	123538418	123538418	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:123538418C>A	ENST00000373926.3	-	5	959	c.772G>T	c.(772-774)Ggg>Tgg	p.G258W	FBXW2_ENST00000340778.5_Missense_Mutation_p.G193W|FBXW2_ENST00000493559.1_5'UTR	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	258					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AGGCATGTCCCAGCAGATAAA	0.488000													63	64					5.45122e-27	9.39487e-27	0.870114	1	0
ARHGAP18	93663	broad.mit.edu	37	6	129920408	129920408	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:129920408C>A	ENST00000368149.2	-	12	1754	c.1666G>T	c.(1666-1668)Gct>Tct	p.A556S		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	556					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CGGTCATAAGCCATTTTCTTC	0.294000													9	11					0.00448238	0.00465059	0.307466	1	0
RHCG	51458	broad.mit.edu	37	15	90023551	90023551	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:90023551A>T	ENST00000268122.4	-	4	679	c.611T>A	c.(610-612)cTa>cAa	p.L204Q	RHCG_ENST00000544600.1_Missense_Mutation_p.L204Q	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	204					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GCTCTGCTCTAGGTTGCGTCG	0.557000													73	67					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179613368	179613368	+	Missense_Mutation	SNP	C	C	A	rs149720053		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179613368C>A	ENST00000360870.5	-	46	13981	c.13759G>T	c.(13759-13761)Gat>Tat	p.D4587Y	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	715	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCACATCTGTGTGTTTT	0.318000													46	89					1.00798e-23	1.67542e-23	0.870114	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64148737	64148737	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:64148737C>A	ENST00000295902.6	-	3	798	c.213G>T	c.(211-213)ctG>ctT	p.L71L	PRICKLE2_ENST00000564377.1_Silent_p.L127L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	71	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCTTGATTCGCAGTTTCTCTC	0.468000													152	101					4.67834e-91	9.34239e-91	0.870114	1	0
CTNND2	1501	broad.mit.edu	37	5	11199609	11199609	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:11199609C>A	ENST00000304623.8	-	11	2115	c.1926G>T	c.(1924-1926)gtG>gtT	p.V642V	CTNND2_ENST00000511377.1_Silent_p.V551V|CTNND2_ENST00000458100.2_Silent_p.V209V|CTNND2_ENST00000503622.1_Silent_p.V305V|CTNND2_ENST00000359640.2_Silent_p.V642V|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	642					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGAGTAACCTCACCAGTGCTG	0.448000													100	68					2.56345e-68	5.09834e-68	0.870114	1	0
MAN2B2	23324	broad.mit.edu	37	4	6580155	6580155	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:6580155T>A	ENST00000285599.3	+	3	357	c.321T>A	c.(319-321)ttT>ttA	p.F107L	MAN2B2_ENST00000504248.1_Missense_Mutation_p.F107L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	107					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCCTGGAATTTGTCATCGGAG	0.597000													7	31					0	0	0.307466	0	0
EPHA7	2045	broad.mit.edu	37	6	94066534	94066534	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:94066534C>A	ENST00000369303.4	-	5	1409	c.1225G>T	c.(1225-1227)Gct>Tct	p.A409S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	409	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTATAATTAGCGTGGGCTAGC	0.483000													17	15					6.94344e-10	8.6375e-10	0.539581	1	0
PROZ	8858	broad.mit.edu	37	13	113826154	113826154	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:113826154C>G	ENST00000342783.4	+	9	1011	c.1004C>G	c.(1003-1005)tCg>tGg	p.S335W	PROZ_ENST00000375547.2_Missense_Mutation_p.S313W	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	313	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	CTGGGCAACTCGCTGACCACG	0.632000													21	32					0	0	0.654019	0	0
ABCA13	154664	broad.mit.edu	37	7	48314412	48314412	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:48314412G>C	ENST00000435803.1	+	17	5173	c.5149G>C	c.(5149-5151)Gca>Cca	p.A1717P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1717					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAAAAATTTGCAGACAGCTC	0.393000													13	79					0	0	0.500413	0	0
KIF1B	23095	broad.mit.edu	37	1	10364665	10364665	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:10364665C>T	ENST00000377093.4	+	21	3575	c.3422C>T	c.(3421-3423)tCa>tTa	p.S1141L	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.S1141L|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGACAGTTCTCAGCACCCAAT	0.473000													12	42					0	0	0.457914	0	0
RXFP1	59350	broad.mit.edu	37	4	159443139	159443139	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:159443139G>T	ENST00000307765.5	+	1	262	c.11G>T	c.(10-12)gGt>gTt	p.G4V	RXFP1_ENST00000423548.1_Missense_Mutation_p.G4V|RXFP1_ENST00000472969.1_3'UTR|RXFP1_ENST00000470033.1_Missense_Mutation_p.G4V|RXFP1_ENST00000460056.2_Intron|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000343542.5_Missense_Mutation_p.G4V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	4						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGACATCTGGTTCTGTCTTC	0.348000													13	18					3.99206e-14	5.57751e-14	0.557998	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156638339	156638339	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:156638339T>C	ENST00000296518.7	+	8	1810	c.1601T>C	c.(1600-1602)gTa>gCa	p.V534A	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.V276A|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V534A|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V534A|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V534A|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V534A|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V534A			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	534	Guanylate cyclase.			GDAYCVA -> AMPIVWL (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCCTATTGTGTAGCTGGGGGA	0.428000													30	97					0	0	0.812448	0	0
DOPEY2	9980	broad.mit.edu	37	21	37650653	37650653	+	Splice_Site	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:37650653A>T	ENST00000399151.3	+	30	6054	c.5969_splice	c.e30+1	p.H1990_splice		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1990					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCTGTGTTCAGTAAGATATG	0.468000													23	23					0	0	0.740014	0	0
PXDN	7837	broad.mit.edu	37	2	1653187	1653187	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:1653187C>A	ENST00000252804.4	-	17	2415	c.2365G>T	c.(2365-2367)Ggg>Tgg	p.G789W		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	789					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGGCGTGCCCGTTGTACAGT	0.652000													13	115					0.00074312	0.000785116	0.539581	1	0
BEND4	389206	broad.mit.edu	37	4	42122120	42122120	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:42122120T>A	ENST00000502486.1	-	5	1917	c.1338A>T	c.(1336-1338)acA>acT	p.T446T	BEND4_ENST00000504360.1_Intron	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	446	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TTTCGGGACCTGTCTCTCCTG	0.502000													6	28					0	0	0.217242	0	0
KCTD3	51133	broad.mit.edu	37	1	215768784	215768784	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:215768784G>T	ENST00000259154.4	+	10	1198	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	302						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GAAAGTGGGAGTGTGGAATGC	0.398000													16	61					1.64113e-05	1.81496e-05	0.592651	1	0
FAT1	2195	broad.mit.edu	37	4	187549392	187549392	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:187549392C>T	ENST00000441802.2	-	9	4935	c.4726G>A	c.(4726-4728)Gcc>Acc	p.A1576T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1576	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGCCAACGGCTGCCGATTCA	0.527000										HNSCC(5;0.00058)			10	20					0	0	0.411799	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668668	176668668	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:176668668C>T	ENST00000367662.3	+	8	4343	c.3179C>T	c.(3178-3180)cCa>cTa	p.P1060L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1060					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CGCGATCCCCCATTTGCCAGT	0.567000													72	103					0	0	0.870114	0	0
TRIB2	28951	broad.mit.edu	37	2	12880610	12880610	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:12880610G>T	ENST00000155926.4	+	3	2141	c.722G>T	c.(721-723)gGg>gTg	p.G241V	TRIB2_ENST00000381465.2_Missense_Mutation_p.G105V	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	241	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGAGCCTGGGGGTGATGCTG	0.582000													22	32					3.28513e-13	4.46896e-13	0.667858	1	0
STAT5B	6777	broad.mit.edu	37	17	40370233	40370233	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:40370233C>A	ENST00000293328.3	-	9	1273	c.1105G>T	c.(1105-1107)Gtg>Ttg	p.V369L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	369					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GTGGCCTTCACCTGGGGGGGG	0.577000													20	74					7.87624e-14	1.09343e-13	0.639603	1	0
RIN3	79890	broad.mit.edu	37	14	93125681	93125681	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:93125681G>T	ENST00000216487.7	+	7	2361	c.2202G>T	c.(2200-2202)ccG>ccT	p.P734P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	734	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCAGCGTGCCGGAGGTGCCCA	0.552000													24	46					4.4004e-07	5.08715e-07	0.654019	1	0
CSMD2	114784	broad.mit.edu	37	1	34011693	34011693	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:34011693G>T	ENST00000373381.4	-	57	9220	c.9044C>A	c.(9043-9045)tCa>tAa	p.S3015*		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2990	Sushi 23.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTGCGCTCTGACGATCCCCG	0.607000													27	32					6.57855e-14	9.15215e-14	0.847076	1	0
ZNF827	152485	broad.mit.edu	37	4	146770520	146770520	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:146770520C>G	ENST00000508784.1	-	6	2402	c.2175G>C	c.(2173-2175)caG>caC	p.Q725H	ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Missense_Mutation_p.Q375H|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q725H			Q17R98	ZN827_HUMAN	zinc finger protein 827	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CAGAGATATCCTGACTGAAGA	0.453000													41	39					0	0	0.864702	0	0
STX6	10228	broad.mit.edu	37	1	180971743	180971743	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:180971743C>A	ENST00000258301.5	-	3	536	c.300_splice	c.e3+1	p.R100_splice	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	100					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						ATTCCTTACCCTGACAACTTG	0.363000													11	41					0.479597	0.480822	0.479597	1	0
ABCG8	64241	broad.mit.edu	37	2	44078814	44078814	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:44078814C>G	ENST00000272286.2	+	4	504	c.414C>G	c.(412-414)ccC>ccG	p.P138P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	138	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGGGCAGCCCAGCTCGCCTC	0.602000													16	59					0	0	0.539581	0	0
MLXIP	22877	broad.mit.edu	37	12	122625581	122625581	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:122625581G>T	ENST00000319080.6	+	16	2721	c.2589G>T	c.(2587-2589)acG>acT	p.T863T	MLXIP_ENST00000538698.1_Silent_p.T470T			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	863	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TGCACCGGACGGCGCTCTCCT	0.617000													44	11					8.20599e-20	1.28149e-19	0.859065	1	0
RYR1	6261	broad.mit.edu	37	19	39023367	39023367	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:39023367C>G	ENST00000355481.4	+	77	11366	c.11235C>G	c.(11233-11235)gtC>gtG	p.V3745V	RYR1_ENST00000360985.3_Silent_p.V3750V|RYR1_ENST00000359596.3_Silent_p.V3750V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3750					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGTTGAGGTCTCCTTTGAGG	0.572000													13	29					0	0	0.500413	0	0
ENG	2022	broad.mit.edu	37	9	130588883	130588883	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:130588883C>T	ENST00000344849.3	-	4	709	c.429G>A	c.(427-429)aaG>aaA	p.K143K	ENG_ENST00000373203.4_Silent_p.K143K			P17813	EGLN_HUMAN	endoglin	143					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGATCTGGGTCTTGGGGAAGG	0.617000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				25	26					0	0	0.717897	0	0
POLQ	10721	broad.mit.edu	37	3	121251867	121251867	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:121251867C>G	ENST00000264233.5	-	6	1058	c.930G>C	c.(928-930)gtG>gtC	p.V310V	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	310					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAATTCCCTCACAAGTTTCA	0.368000								DNA polymerases (catalytic subunits)					29	50					0	0	0.760397	0	0
PSD4	23550	broad.mit.edu	37	2	113950017	113950017	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:113950017A>T	ENST00000245796.6	+	6	1884	c.1689A>T	c.(1687-1689)gcA>gcT	p.A563A	PSD4_ENST00000441564.2_Silent_p.A535A	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	563	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCCCCAAGCACAGTCCCCAG	0.542000													92	110					0	0	0.870114	0	0
NRXN2	9379	broad.mit.edu	37	11	64402851	64402851	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:64402851G>T	ENST00000265459.6	-	18	3938	c.3477C>A	c.(3475-3477)agC>agA	p.S1159R	NRXN2_ENST00000377559.3_Missense_Mutation_p.S1119R|NRXN2_ENST00000301894.2_Missense_Mutation_p.S113R|NRXN2_ENST00000377551.1_Missense_Mutation_p.S1159R|NRXN2_ENST00000409571.1_Missense_Mutation_p.S1152R	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1159	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCATCCTCGTGCTGGGCCTGT	0.647000													16	31					2.37509e-13	3.24673e-13	0.592651	1	0
VPS16	64601	broad.mit.edu	37	20	2844012	2844012	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:2844012A>T	ENST00000380445.3	+	15	1516	c.1444A>T	c.(1444-1446)Agc>Tgc	p.S482C	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.S168C|VPS16_ENST00000380469.3_Missense_Mutation_p.S338C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	482					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ACAGGGCGTCAGCAGGATCCT	0.582000													13	67					0	0	0.479597	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894263	78894263	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:78894263G>T	ENST00000326828.5	-	5	1105	c.721C>A	c.(721-723)Ccc>Acc	p.P241T	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P241T	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	241					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAGAACAAGGGCAGGCGCCGG	0.557000													11	16					0.00244969	0.00255377	0.457914	1	0
CHRDL1	91851	broad.mit.edu	37	X	109937400	109937400	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:109937400G>T	ENST00000218054.4	-	8	962	c.766C>A	c.(766-768)Cat>Aat	p.H256N	CHRDL1_ENST00000444321.2_Missense_Mutation_p.H256N|CHRDL1_ENST00000394797.4_Missense_Mutation_p.H256N|CHRDL1_ENST00000372042.1_Missense_Mutation_p.H257N|CHRDL1_ENST00000482160.1_Missense_Mutation_p.H177N|CHRDL1_ENST00000372045.1_Missense_Mutation_p.H250N|CHRDL1_ENST00000434224.1_Missense_Mutation_p.H177N	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	250	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CCTTGTCCATGCTTGTGTTTG	0.512000													39	86					1.86633e-21	2.99805e-21	0.870114	1	0
COL5A2	1290	broad.mit.edu	37	2	189931223	189931223	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:189931223C>A	ENST00000374866.3	-	23	1730	c.1455_splice	c.e23-1	p.G486_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	486					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATGTGGCCCCTGTTAAAAA	0.483000													47	68					5.73435e-26	9.80534e-26	0.870114	1	0
OTOP2	92736	broad.mit.edu	37	17	72923878	72923878	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:72923878C>T	ENST00000331427.4	+	5	720	c.628C>T	c.(628-630)Cgt>Tgt	p.R210C	OTOP2_ENST00000580223.1_Missense_Mutation_p.R210C	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	210						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGCCACGCCCGTCTCATCTC	0.572000													3	45					0	0	0.150653	0	0
UNC5C	8633	broad.mit.edu	37	4	96123951	96123951	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:96123951G>A	ENST00000453304.1	-	12	2415	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	689					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGCAGCACAGGGGCCCAAAGA	0.602000													29	31					0	0	0.769981	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986154	31986154	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:31986154C>A	ENST00000329122.2	-	1	95	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	24						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						TAGCCATAGCCCAGGCCTCCA	0.597000													45	47					7.88023e-25	1.33698e-24	0.870114	1	0
POTEH	23784	broad.mit.edu	37	22	16267071	16267071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:16267071C>A	ENST00000343518.6	-	9	1429	c.1378G>T	c.(1378-1380)Gga>Tga	p.G460*		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	460										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGAGTACTTCCGTGCTTCTTC	0.363000													22	318					1.30897e-18	2.0043e-18	0.740014	1	0
ANKRD28	23243	broad.mit.edu	37	3	15719757	15719757	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:15719757G>A	ENST00000399451.2	-	24	2943	c.2576C>T	c.(2575-2577)cCt>cTt	p.P859L	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.P892L	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	859						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATCATAAGAGGTGTTTTCCC	0.398000													29	19					0	0	0.750413	0	0
TBR1	10716	broad.mit.edu	37	2	162274318	162274318	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:162274318G>A	ENST00000389554.3	+	2	1141	c.824G>A	c.(823-825)gGc>gAc	p.G275D		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	275						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GTTCCTTGCGGCAAAGCGGAC	0.443000													11	27					0	0	0.387290	0	0
MACF1	23499	broad.mit.edu	37	1	39910445	39910445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:39910445C>T	ENST00000564288.1	+	80	20320	c.19543C>T	c.(19543-19545)Cag>Tag	p.Q6515*	MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q4456*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q4326*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q4958*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q4456*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q6414*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q6552*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q4456*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6523					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAGACAGAACAGAGTGTAGC	0.463000													14	64					0	0	0.500413	0	0
ATAD2	29028	broad.mit.edu	37	8	124383143	124383143	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:124383143C>A	ENST00000287394.5	-	6	834	c.727_splice	c.e6+1	p.E243_splice	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGAGACTAACCCACACTGCCT	0.318000													5	51					5.9392e-07	6.82591e-07	0.217242	1	0
SCN4A	6329	broad.mit.edu	37	17	62018745	62018745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:62018745G>T	ENST00000435607.1	-	24	4973	c.4897C>A	c.(4897-4899)Cag>Aag	p.Q1633K	SCN4A_ENST00000578147.1_Missense_Mutation_p.Q1633K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1633					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCGATGAACTGGGTGGCGTCG	0.552000													32	38					4.11147e-13	5.58534e-13	0.788014	1	0
PSG9	5678	broad.mit.edu	37	19	43763169	43763169	+	Missense_Mutation	SNP	G	G	T	rs2355449	byFrequency	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:43763169G>T	ENST00000418820.2	-	3	647	c.549C>A	c.(547-549)aaC>aaA	p.N183K	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.N183K|PSG9_ENST00000270077.3_Missense_Mutation_p.N276K|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	183	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGCTCTGACCGTTTAGCCACC	0.473000													60	186					6.00099e-30	1.06509e-29	0.870114	1	0
MTNR1B	4544	broad.mit.edu	37	11	92715248	92715248	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:92715248G>T	ENST00000257068.2	+	2	865	c.859G>T	c.(859-861)Gag>Tag	p.E287*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	287					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCAGATCCCTGAGGGGCTATT	0.502000													86	169					2.78983e-34	5.11339e-34	0.870114	1	0
IL27	246778	broad.mit.edu	37	16	28515227	28515227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:28515227G>T	ENST00000356897.1	-	2	198	c.176C>A	c.(175-177)tCc>tAc	p.S59Y		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	59			S -> A (in dbSNP:rs17855750).		inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CCGAACCTCGGAGAGCAGCTT	0.652000													34	38					4.0492e-12	5.37429e-12	0.827153	1	0
LILRB5	10990	broad.mit.edu	37	19	54759201	54759201	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:54759201G>T	ENST00000450632.1	-	5	950	c.873C>A	c.(871-873)aaC>aaA	p.N291K	LILRB5_ENST00000345866.6_Missense_Mutation_p.N200K|LILRB5_ENST00000316219.5_Missense_Mutation_p.N300K|LILRB5_ENST00000449561.2_Missense_Mutation_p.N300K			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	300	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGGGGAGAGGTTGTGTGCAC	0.692000													9	60					9.70103e-10	1.20298e-09	0.361761	1	0
FNDC1	84624	broad.mit.edu	37	6	159653222	159653222	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:159653222C>A	ENST00000297267.9	+	11	1878	c.1678C>A	c.(1678-1680)Caa>Aaa	p.Q560K	FNDC1_ENST00000340366.6_Missense_Mutation_p.Q497K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	560						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGACACCCAAGACCAGAA	0.647000													10	17					3.07112e-06	3.4687e-06	0.387290	1	0
BRD9	65980	broad.mit.edu	37	5	878501	878501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:878501C>A	ENST00000323510.4	-	8	951	c.952G>T	c.(952-954)Gga>Tga	p.G318*	BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Nonsense_Mutation_p.G298*|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000467963.1_Nonsense_Mutation_p.G414*|BRD9_ENST00000483173.1_Nonsense_Mutation_p.G361*			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	414							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GTCTCATCTCCGTAGGCTGAG	0.582000													18	128					2.47511e-08	2.9482e-08	0.729181	1	0
BMS1	9790	broad.mit.edu	37	10	43289422	43289422	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:43289422G>A	ENST00000374518.4	+	9	1275	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	404					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGGGTCAGAGGATATAGATA	0.393000													13	53					0	0	0.457914	0	0
NISCH	11188	broad.mit.edu	37	3	52512267	52512267	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:52512267A>G	ENST00000345716.4	+	10	1276	c.1142A>G	c.(1141-1143)aAc>aGc	p.N381S	NISCH_ENST00000488380.1_Missense_Mutation_p.N381S|NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000420808.2_Missense_Mutation_p.N381S|NISCH_ENST00000479054.1_Missense_Mutation_p.N381S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	381	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCACTGGTCAACCTGGATCTC	0.507000													11	76					0	0	0.457914	0	0
ZBBX	79740	broad.mit.edu	37	3	167000074	167000074	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:167000074T>A	ENST00000392766.2	-	19	2429	c.2089A>T	c.(2089-2091)Act>Tct	p.T697S	ZBBX_ENST00000307529.5_Missense_Mutation_p.T736S|ZBBX_ENST00000392767.2_Missense_Mutation_p.T697S|ZBBX_ENST00000392764.1_Missense_Mutation_p.T668S|ZBBX_ENST00000455345.2_Missense_Mutation_p.T736S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	697						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGTCTAAAGTATGTTGATCA	0.323000													9	36					0	0	0.307466	0	0
DST	667	broad.mit.edu	37	6	56480558	56480558	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:56480558C>A	ENST00000370765.6	-	24	7814	c.7707G>T	c.(7705-7707)caG>caT	p.Q2569H	DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1865					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGAGTGAACCTGTGGCTCTA	0.388000													64	132					3.86735e-44	7.39922e-44	0.870114	1	0
NOTCH1	4851	broad.mit.edu	37	9	139409987	139409987	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:139409987G>A	ENST00000277541.6	-	11	1926	c.1851C>T	c.(1849-1851)acC>acT	p.T617T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	617	EGF-like 16; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTCCTGGCAGGTGCCCCCGT	0.721000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			20	13					0	0	0.717897	0	0
FOXG1	2290	broad.mit.edu	37	14	29237172	29237172	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:29237172C>A	ENST00000382535.3	+	2	1056	c.687C>A	c.(685-687)atC>atA	p.I229I	FOXG1_ENST00000313071.4_Silent_p.I229I			P55316	FOXG1_HUMAN	forkhead box G1	229					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGAACTCCATCCGCCACAATC	0.592000													29	28					1.62565e-12	2.17233e-12	0.760397	1	0
ZNF578	147660	broad.mit.edu	37	19	53014918	53014918	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:53014918G>T	ENST00000421239.2	+	6	1528	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AACCTTACAAGTGTAATGACT	0.383000													17	49					1.01871e-10	1.30787e-10	0.575678	1	0
LILRP2	79166	broad.mit.edu	37	19	55221841	55221841	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:55221841G>T	ENST00000413439.1	+	0	1415																											GGAGGTGTCAGCTCAGAACGA	0.637000													4	11					0.00024832	0.000265497	0.150653	1	0
MAML2	84441	broad.mit.edu	37	11	96074881	96074881	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:96074881C>A	ENST00000524717.1	-	1	1463	c.179G>T	c.(178-180)cGa>cTa	p.R60L		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	60					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGCCCTACCTCGTTCATATCG	0.602000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	19					5.16669e-11	6.70781e-11	0.387290	1	0
HCN1	348980	broad.mit.edu	37	5	45267338	45267338	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:45267338T>A	ENST00000303230.4	-	7	1693	c.1636A>T	c.(1636-1638)Aaa>Taa	p.K546*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	546						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGACGTCCTTTGGTCAGCAGG	0.388000													75	62					0	0	0.870114	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519425	113519425	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:113519425G>T	ENST00000284601.3	-	4	1790	c.1722C>A	c.(1720-1722)acC>acA	p.T574T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	574					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGATTGCCCGGGTGGGGATTG	0.473000													72	156					4.00405e-42	7.6015e-42	0.870114	1	0
CCDC141	285025	broad.mit.edu	37	2	179733891	179733891	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179733891C>G	ENST00000420890.2	-	15	2464	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.E208Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	208							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGATATCCTCGTAATCCTGG	0.413000													35	92					0	0	0.859065	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175617	143175617	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:143175617G>T	ENST00000408916.1	+	1	652	c.652G>T	c.(652-654)Ggg>Tgg	p.G218W	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	218					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.G218R(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCAGCACAACGGGCACAGCCT	0.478000													19	57					1.85244e-09	2.2827e-09	0.654019	1	0
GRM5	2915	broad.mit.edu	37	11	88780700	88780700	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:88780700C>A	ENST00000418177.2	-	2	708	c.341G>T	c.(340-342)aGa>aTa	p.R114I	GRM5_ENST00000393294.3_Missense_Mutation_p.R114I|GRM5_ENST00000305432.5_Missense_Mutation_p.R114I|GRM5_ENST00000393297.1_Missense_Mutation_p.R114I|GRM5_ENST00000455756.2_Missense_Mutation_p.R114I|GRM5_ENST00000305447.4_Missense_Mutation_p.R114I			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	114					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGGGAATCTCTTATGAACTC	0.527000													22	49					2.37509e-13	3.24673e-13	0.592651	1	0
FSCB	84075	broad.mit.edu	37	14	44973903	44973903	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:44973903G>T	ENST00000340446.4	-	1	2579	c.2288C>A	c.(2287-2289)cCg>cAg	p.P763Q		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	763						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGCCACCTGCGGTGACTGAAA	0.433000													73	76					3.61922e-38	6.77914e-38	0.870114	1	0
PCLO	27445	broad.mit.edu	37	7	82580712	82580712	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:82580712G>T	ENST00000423517.2	-	6	9529	c.9192C>A	c.(9190-9192)tcC>tcA	p.S3064S	PCLO_ENST00000333891.8_Silent_p.S3064S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2995					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTGCTGTGGAATACTGTG	0.453000													5	23					8.12818e-05	8.83968e-05	0.248553	1	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													4	96					0	0	0.150653	0	0
OR2M7	391196	broad.mit.edu	37	1	248487598	248487598	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:248487598G>T	ENST00000317965.2	-	1	301	c.273C>A	c.(271-273)tcC>tcA	p.S91S		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATAGAAATGGACTTGCTGC	0.478000													69	210					2.94884e-30	5.25279e-30	0.870114	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896511	89896511	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:89896511C>A	ENST00000534061.1	+	10	1339	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	NAALAD2_ENST00000525171.1_Missense_Mutation_p.S277Y|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S337Y	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	370	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CACCGGGACTCCTGGGTATTT	0.383000													78	152					1.7318e-42	3.29731e-42	0.870114	1	0
MYO9B	4650	broad.mit.edu	37	19	17309028	17309028	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:17309028G>A	ENST00000595618.1	+	24	4301	c.4149G>A	c.(4147-4149)gcG>gcA	p.A1383A	MYO9B_ENST00000594824.1_Silent_p.A1383A|MYO9B_ENST00000397274.2_Silent_p.A1383A	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1383	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCGAAGTGCGAAAAAGCCAG	0.602000													7	30					0	0	0.248553	0	0
ZXDC	79364	broad.mit.edu	37	3	126180704	126180704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:126180704C>A	ENST00000389709.3	-	6	1854	c.1801G>T	c.(1801-1803)Gtg>Ttg	p.V601L	ZXDC_ENST00000336332.5_Missense_Mutation_p.V601L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	601	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		ACAGTCTGCACGTCATCCACA	0.572000													42	140					5.7616e-29	1.01709e-28	0.870114	1	0
BRPF3	27154	broad.mit.edu	37	6	36193074	36193074	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:36193074G>A	ENST00000357641.6	+	11	3465	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	BRPF3_ENST00000534400.1_Intron|BRPF3_ENST00000534694.1_Missense_Mutation_p.R737H|BRPF3_ENST00000339717.7_Missense_Mutation_p.R801H|BRPF3_ENST00000543502.1_Missense_Mutation_p.R801H|BRPF3_ENST00000443324.2_Missense_Mutation_p.R737H	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1071					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TTTGAAGACCGCGGAGACCTG	0.647000													16	69					0	0	0.539581	0	0
NLRP2	55655	broad.mit.edu	37	19	55493963	55493963	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:55493963G>T	ENST00000543010.1	+	6	1040	c.897G>T	c.(895-897)gcG>gcT	p.A299A	NLRP2_ENST00000339757.7_Silent_p.A277A|NLRP2_ENST00000537859.1_Silent_p.A277A|NLRP2_ENST00000538819.1_Silent_p.A275A|NLRP2_ENST00000391721.4_Silent_p.A275A|NLRP2_ENST00000263437.6_Silent_p.A296A|NLRP2_ENST00000448584.2_Silent_p.A299A|NLRP2_ENST00000427260.2_Silent_p.A276A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	299	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACCTGGGGCGCTGATCGAGG	0.587000													14	50					7.07596e-05	7.71673e-05	0.539581	1	0
RNASEL	6041	broad.mit.edu	37	1	182554782	182554782	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:182554782T>G	ENST00000367559.3	-	2	1413	c.1160A>C	c.(1159-1161)cAa>cCa	p.Q387P	RNASEL_ENST00000444138.1_Missense_Mutation_p.Q387P|RNASEL_ENST00000539397.1_Missense_Mutation_p.Q387P	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	387	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						AGCTACTTCTTGCTTCTCATA	0.468000													25	108					0	0	0.740014	0	0
MED20	9477	broad.mit.edu	37	6	41877046	41877046	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:41877046C>A	ENST00000265350.4	-	3	464	c.384G>T	c.(382-384)acG>acT	p.T128T	MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_Intron|MED20_ENST00000409060.1_Silent_p.T128T	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	128					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCATTGTGACCGTGCCCACCT	0.567000													48	140					2.89171e-43	5.52182e-43	0.870114	1	0
PKD1L1	168507	broad.mit.edu	37	7	47842879	47842879	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:47842879C>G	ENST00000289672.2	-	53	7941	c.7891G>C	c.(7891-7893)Ggc>Cgc	p.G2631R	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2631					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTTTGAATGCCAGGAAGATAG	0.493000													35	46					0	0	0.827153	0	0
CDR1	1038	broad.mit.edu	37	X	139866480	139866480	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:139866480C>A	ENST00000370532.2	-	1	243	c.52G>T	c.(52-54)Gac>Tac	p.D18Y		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	18	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAAGGTATGTCTTCCAACAAA	0.413000													81	56					6.51614e-51	1.26897e-50	0.870114	1	0
SORCS1	114815	broad.mit.edu	37	10	108458972	108458972	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:108458972C>A	ENST00000263054.6	-	9	1420	c.1413_splice	c.e9+1	p.E471_splice	SORCS1_ENST00000344440.6_Splice_Site_p.E471_splice|SORCS1_ENST00000369698.1_Splice_Site_p.E6_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	471						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGTGACATACCTCATAGAGGT	0.527000													35	42					1.30091e-30	2.32364e-30	0.827153	1	0
SMYD1	150572	broad.mit.edu	37	2	88405967	88405967	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:88405967G>C	ENST00000419482.2	+	8	1190	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.E356Q	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCCTTTGAGGAGGCCTCGTT	0.532000													27	66					0	0	0.750413	0	0
JPH4	84502	broad.mit.edu	37	14	24041069	24041069	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:24041069C>T	ENST00000397118.3	-	5	2114	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	JPH4_ENST00000544177.1_Silent_p.E69E|JPH4_ENST00000356300.4_Silent_p.E404E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	404					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TTCGAGCTGCCTCCACGGCCT	0.637000													40	75					0	0	0.853193	0	0
AHSG	197	broad.mit.edu	37	3	186338623	186338623	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:186338623C>A	ENST00000411641.2	+	7	1227	c.1008C>A	c.(1006-1008)ccC>ccA	p.P336P	AHSG_ENST00000273784.5_Silent_p.P337P			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	336					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGTCGCACCCCCGGAAAACAC	0.607000													64	93					6.72169e-28	1.17286e-27	0.870114	1	0
ITGAX	3687	broad.mit.edu	37	16	31384707	31384707	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:31384707G>A	ENST00000268296.4	+	20	2625	c.2504G>A	c.(2503-2505)gGc>gAc	p.G835D	ITGAX_ENST00000562522.1_Missense_Mutation_p.G835D	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	835					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTGGCAGAGGGCCAGGTGCAC	0.627000													30	53					0	0	0.804634	0	0
AP1M1	8907	broad.mit.edu	37	19	16314346	16314346	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:16314346A>T	ENST00000291439.3	+	2	568	c.119A>T	c.(118-120)aAg>aTg	p.K40M	AP1M1_ENST00000429941.2_Missense_Mutation_p.K40M|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.K40M|AP1M1_ENST00000541844.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	40					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CTGATGGAGAAGGAGGAGGAG	0.582000													15	72					0	0	0.539581	0	0
SYNJ2	8871	broad.mit.edu	37	6	158487485	158487485	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:158487485G>A	ENST00000355585.4	+	12	1610	c.1535G>A	c.(1534-1536)aGg>aAg	p.R512K	SYNJ2_ENST00000367122.2_Missense_Mutation_p.R512K|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R440K|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R512K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	512							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTGACTCCCAGGATCCTGAAA	0.502000													26	28					0	0	0.717897	0	0
CENPE	1062	broad.mit.edu	37	4	104066825	104066825	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:104066825T>A	ENST00000265148.3	-	31	4516	c.4427A>T	c.(4426-4428)gAa>gTa	p.E1476V	CENPE_ENST00000380026.3_Missense_Mutation_p.E1451V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1476					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAGTTCCTCTTCAGTTTCCAG	0.313000													4	18					0	0	0.150653	0	0
ZNF492	57615	broad.mit.edu	37	19	22836757	22836757	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:22836757C>G	ENST00000456783.2	+	3	314	c.70C>G	c.(70-72)Ctg>Gtg	p.L24V		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GATCACCTGTCTGGAGCAAGG	0.413000													5	96					0	0	0.387290	0	0
OR1G1	8390	broad.mit.edu	37	17	3030714	3030714	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:3030714G>T	ENST00000328890.2	-	1	161	c.132C>A	c.(130-132)ctC>ctA	p.L44L		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CTAGAATGATGAGGAGGTTGC	0.517000													61	49					2.36135e-34	4.3402e-34	0.870114	1	0
COL11A2	1302	broad.mit.edu	37	6	33136733	33136733	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:33136733C>A	ENST00000341947.2	-	52	4078	c.3852_splice	c.e52+1	p.R1284_splice	COL11A2_ENST00000361917.1_Splice_Site_p.R1177_splice|COL11A2_ENST00000374708.4_Splice_Site_p.R1198_splice|COL11A2_ENST00000395197.1_Splice_Site_p.R1224_splice|COL11A2_ENST00000357486.1_Splice_Site_p.R1263_splice|COL11A2_ENST00000374713.1_Splice_Site_p.R1237_splice|COL11A2_ENST00000374714.1_Splice_Site_p.R1258_splice|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Splice_Site_p.R1203_splice	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1284	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AAGACTCACCCGAGGGCCACC	0.607000													59	108					7.81431e-29	1.37821e-28	0.870114	1	0
ZFPM2	23414	broad.mit.edu	37	8	106815248	106815248	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:106815248C>A	ENST00000407775.2	+	8	3188	c.2938C>A	c.(2938-2940)Cag>Aag	p.Q980K	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q848K|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q711K|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q848K|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	980					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGGAGCCGACCAGCTTTCTCC	0.398000													13	13					4.36969e-10	5.47746e-10	0.435327	1	0
TBX21	30009	broad.mit.edu	37	17	45822286	45822286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:45822286G>T	ENST00000177694.1	+	6	1373	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	388					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTACTGGCTGGGGGCCCCCCG	0.617000													48	51					1.4374e-25	2.45145e-25	0.870114	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236091	140236091	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140236091T>A	ENST00000307360.5	+	1	458	c.458T>A	c.(457-459)cTa>cAa	p.L153Q	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.L153Q|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATTTCCACTAGAAGGCGCA	0.423000													100	55					0	0	0.870114	0	0
RNASE9	390443	broad.mit.edu	37	14	21025067	21025067	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:21025067T>C	ENST00000557068.1	-	4	1887	c.162A>G	c.(160-162)acA>acG	p.T54T	RNASE9_ENST00000429244.2_Silent_p.T54T|RNASE9_ENST00000553706.1_Silent_p.T59T|RNASE9_ENST00000553541.1_Silent_p.T54T|RNASE9_ENST00000404716.3_Silent_p.T59T|RNASE9_ENST00000557209.1_Silent_p.T59T|RNASE9_ENST00000554964.1_Silent_p.T54T|RNASE9_ENST00000338904.3_Silent_p.T54T|RNASE9_ENST00000555230.1_Silent_p.T54T|RNASE9_ENST00000556208.1_Silent_p.T59T			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	54						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TGGCGGGCCCTGTACTAAAAA	0.383000													19	53					0	0	0.575678	0	0
LNPEP	4012	broad.mit.edu	37	5	96315661	96315661	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:96315661C>T	ENST00000231368.5	+	2	1531	c.839C>T	c.(838-840)aCa>aTa	p.T280I	LNPEP_ENST00000395770.3_Missense_Mutation_p.T266I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	280					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTCTCCTACACAGATGAAAGT	0.408000													27	19					0	0	0.717897	0	0
UBE4B	10277	broad.mit.edu	37	1	10155609	10155609	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:10155609C>G	ENST00000343090.6	+	3	377	c.302C>G	c.(301-303)tCa>tGa	p.S101*	UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000253251.8_Nonsense_Mutation_p.S101*	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	101					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CAGTCTCTCTCACGTTCCCAG	0.443000													41	63					0	0	0.870114	0	0
ADAD2	161931	broad.mit.edu	37	16	84228889	84228889	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:84228889C>A	ENST00000268624.3	+	6	1060	c.967C>A	c.(967-969)Ccc>Acc	p.P323T	RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000315906.5_Intron|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	244	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CGTCTCTGCCCCCTCCTGCAC	0.697000													9	17					0.000978159	0.00103233	0.387290	1	0
RAB1B	81876	broad.mit.edu	37	11	66043553	66043553	+	Silent	SNP	G	G	T	rs61730423		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:66043553G>T	ENST00000311481.6	+	6	597	c.450G>T	c.(448-450)acG>acT	p.T150T	RAB1B_ENST00000527397.1_Silent_p.T118T|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	150					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						TCTTGGAGACGAGCGCCAAGA	0.602000													9	15					1.49906e-05	1.65877e-05	0.457914	1	0
PDE10A	10846	broad.mit.edu	37	6	165827012	165827012	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:165827012C>A	ENST00000366882.1	-	14	1379	c.1225G>T	c.(1225-1227)Gct>Tct	p.A409S	PDE10A_ENST00000539869.2_Missense_Mutation_p.A419S|PDE10A_ENST00000354448.4_Missense_Mutation_p.A409S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	409	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AAGGCTAAAGCACAAAAGACG	0.358000													40	24					6.31075e-24	1.0534e-23	0.870114	1	0
SPOCD1	90853	broad.mit.edu	37	1	32280061	32280061	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:32280061C>T	ENST00000360482.2	-	2	1003	c.874G>A	c.(874-876)Ggg>Agg	p.G292R	SPOCD1_ENST00000533231.1_Missense_Mutation_p.G292R|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G292R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	292					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCCCATCCCCTGTAGCGGGC	0.627000													9	19					0	0	0.387290	0	0
LACE1	246269	broad.mit.edu	37	6	108843500	108843500	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:108843500G>T	ENST00000368977.4	+	13	1504	c.1317_splice	c.e13-1	p.D440_splice		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	440							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TTATAACCAGGATTCAGCAGA	0.363000													23	7					9.39395e-14	1.29679e-13	0.706142	1	0
C1QC	714	broad.mit.edu	37	1	22974271	22974271	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:22974271G>T	ENST00000374639.3	+	3	851	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	C1QC_ENST00000374640.4_Missense_Mutation_p.D245Y|C1QC_ENST00000374637.1_Missense_Mutation_p.D245Y	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	245	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTCTTCCCCGACTAGGGCGG	0.632000													20	75					3.62473e-10	4.55528e-10	0.608945	1	0
TOX	9760	broad.mit.edu	37	8	59764243	59764243	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:59764243T>A	ENST00000361421.1	-	4	753	c.533A>T	c.(532-534)cAg>cTg	p.Q178L		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	178						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGTAGTCAGCTGGCCATGTGG	0.527000													16	90					0	0	0.479597	0	0
FKBP4	2288	broad.mit.edu	37	12	2910447	2910447	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:2910447G>A	ENST00000001008.4	+	9	1384	c.1197G>A	c.(1195-1197)cgG>cgA	p.R399R	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	399	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GCCAGCAGCGGATCCGAAGGC	0.557000													27	122					0	0	0.740014	0	0
PANX3	116337	broad.mit.edu	37	11	124489663	124489663	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:124489663C>T	ENST00000284288.2	+	4	1078	c.1011C>T	c.(1009-1011)atC>atT	p.I337I		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	337					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GAGCTAACATCTCTGAGCTCA	0.428000													36	93					0	0	0.827153	0	0
CSAG1	158511	broad.mit.edu	37	X	151908860	151908860	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:151908860G>T	ENST00000370291.2	+	4	379	c.99G>T	c.(97-99)ctG>ctT	p.L33L	CSAG1_ENST00000370287.3_Silent_p.L33L|CSAG1_ENST00000452779.2_Silent_p.L33L			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	33										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ACACTGGTCTGGTGAAGATGT	0.562000													136	72					2.45478e-50	4.77103e-50	0.870114	1	0
C11orf63	79864	broad.mit.edu	37	11	122774868	122774868	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:122774868G>A	ENST00000227349.2	+	3	877	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	C11orf63_ENST00000531316.1_Missense_Mutation_p.E194K|C11orf63_ENST00000307257.6_Missense_Mutation_p.E194K	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	194										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACTTGGTAGTGAATTTTTAAG	0.542000													41	64					0	0	0.853193	0	0
PRKCI	5584	broad.mit.edu	37	3	170016829	170016829	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:170016829G>T	ENST00000295797.4	+	17	1939	c.1634G>T	c.(1633-1635)gGg>gTg	p.G545V		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	545	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AATATTTCTGGGGAATTTGGT	0.378000													22	68					1.55811e-20	2.46064e-20	0.729181	1	0
MAP10	54627	broad.mit.edu	37	1	232942300	232942300	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:232942300C>A	ENST00000418460.1	+	1	1658	c.1531C>A	c.(1531-1533)Cct>Act	p.P511T		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		GCTTGTAAATCCTCCACATAT	0.388000													4	7					0.00909568	0.00932367	0.150653	1	0
EPHA7	2045	broad.mit.edu	37	6	94120578	94120578	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:94120578C>T	ENST00000369303.4	-	3	657	c.473G>A	c.(472-474)gGt>gAt	p.G158D	EPHA7_ENST00000369297.1_Missense_Mutation_p.G158D	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	158						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACCAAGGTCACCTTGGGTAAA	0.398000													35	30					0	0	0.804634	0	0
COL5A1	1289	broad.mit.edu	37	9	137716626	137716626	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:137716626C>T	ENST00000371817.3	+	62	5293	c.4879C>T	c.(4879-4881)Cgg>Tgg	p.R1627W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1627	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCAGATGAAACGGCCCCTGGG	0.637000													20	18					0	0	0.624587	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449732	62449732	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:62449732G>A	ENST00000301998.4	+	2	629	c.377G>A	c.(376-378)cGc>cAc	p.R126H	B3GNT2_ENST00000405767.1_Missense_Mutation_p.R126H	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	126						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TTGAGATGCCGCAATTATTCA	0.458000													40	159					0	0	0.827153	0	0
NSD1	64324	broad.mit.edu	37	5	176638942	176638942	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:176638942A>T	ENST00000439151.2	+	5	3587	c.3542A>T	c.(3541-3543)gAa>gTa	p.E1181V	NSD1_ENST00000354179.4_Missense_Mutation_p.E912V|NSD1_ENST00000361032.4_Missense_Mutation_p.E1078V|NSD1_ENST00000347982.4_Missense_Mutation_p.E912V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1181					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAGAGAAAGAAAACTCTGAG	0.468000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			28	15					0	0	0.729181	0	0
RPE65	6121	broad.mit.edu	37	1	68896850	68896850	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:68896850G>T	ENST00000262340.5	-	13	1401	c.1348C>A	c.(1348-1350)Ctg>Atg	p.L450M		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	450					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TTGACATTCAGCTTACAGAGC	0.373000													8	32					1.12685e-05	1.25114e-05	0.307466	1	0
LDLR	3949	broad.mit.edu	37	19	11215977	11215977	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:11215977G>T	ENST00000558518.1	+	4	582	c.395G>T	c.(394-396)cGg>cTg	p.R132L	LDLR_ENST00000455727.2_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.R91L|LDLR_ENST00000558013.1_Missense_Mutation_p.R132L|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.R132L	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	132	LDL-receptor class A 3.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GACTCAGACCGGGACTGCTTG	0.647000													70	195					4.493e-44	8.58789e-44	0.870114	1	0
GBA3	57733	broad.mit.edu	37	4	22737818	22737818	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:22737818C>A	ENST00000511446.1	+	0	276				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGACAGGTTTCATCAACCAGA	0.408000													47	82					1.63038e-21	2.6233e-21	0.870114	1	0
OBSCN	84033	broad.mit.edu	37	1	228560770	228560770	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:228560770G>A	ENST00000570156.2	+	105	25236	c.25162G>A	c.(25162-25164)Ggc>Agc	p.G8388S	OBSCN_ENST00000422127.1_Missense_Mutation_p.G7431S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G5065S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7431					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATCCTGAAGGGCAGGCCGGA	0.642000													12	38					0	0	0.500413	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431379	110431379	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:110431379G>T	ENST00000378402.5	+	22	2518	c.2414G>T	c.(2413-2415)gGg>gTg	p.G805V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	805					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G807V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAATACACTGGGACAAATGTT	0.378000										HNSCC(38;0.096)			55	38					1.53716e-24	2.5923e-24	0.870114	1	0
MYRF	745	broad.mit.edu	37	11	61544867	61544867	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:61544867C>A	ENST00000278836.5	+	12	1818	c.1722C>A	c.(1720-1722)caC>caA	p.H574Q	MYRF_ENST00000265460.5_Missense_Mutation_p.H565Q|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Missense_Mutation_p.H199Q	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		TGGTTGTGCACGGGAATGTCA	0.677000													10	44					2.17888e-05	2.40289e-05	0.335167	1	0
GPR141	353345	broad.mit.edu	37	7	37780698	37780698	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:37780698C>T	ENST00000447769.1	+	4	992	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.L235F			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	235						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGGGTCATCCTTGTTTGTTT	0.408000													35	98					0	0	0.804634	0	0
TMEM63B	55362	broad.mit.edu	37	6	44116019	44116019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:44116019G>T	ENST00000259746.9	+	13	1201	c.1018G>T	c.(1018-1020)Gag>Tag	p.E340*	TMEM63B_ENST00000323267.6_Nonsense_Mutation_p.E340*			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	340						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CACAAAGCTGGAGCAGAAGCT	0.552000													38	73					1.67305e-13	2.29503e-13	0.819951	1	0
OR1G1	8390	broad.mit.edu	37	17	3030137	3030137	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:3030137C>T	ENST00000328890.2	-	1	738	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GTGGAAAAGGCTTTCCGCTTC	0.498000													12	14					0	0	0.387290	0	0
NLRP4	147945	broad.mit.edu	37	19	56369254	56369254	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:56369254G>C	ENST00000301295.6	+	3	917	c.495G>C	c.(493-495)ctG>ctC	p.L165L	NLRP4_ENST00000587891.1_Silent_p.L90L|NLRP4_ENST00000346986.5_Silent_p.L165L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	165	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGACACTCCTGATGAAGCTGA	0.498000													13	46					0	0	0.435327	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31107664	31107664	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:31107664G>T	ENST00000259881.9	+	6	703	c.414G>T	c.(412-414)tcG>tcT	p.S138S	PSORS1C1_ENST00000481450.2_Silent_p.S75S|PSORS1C1_ENST00000547221.1_Silent_p.S90S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	138										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TATTGTACTCGTCTCCTCCCT	0.557000													71	120					5.66823e-36	1.04772e-35	0.870114	1	0
FAM74A3	728495	broad.mit.edu	37	9	40716218	40716218	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:40716218C>A	ENST00000604146.1	+	0	557					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCTGTCGTTACTGCTGCACTT	0.443000													42	44					1.46156e-29	2.58938e-29	0.870114	1	0
MSX1	4487	broad.mit.edu	37	4	4861965	4861965	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:4861965G>T	ENST00000382723.4	+	1	573	c.339G>T	c.(337-339)cgG>cgT	p.R113R		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	107					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTCGCCGCGGCCGCTCGGCC	0.741000													5	6					0.000602214	0.00063762	0.184627	1	0
OR2F2	135948	broad.mit.edu	37	7	143632915	143632915	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:143632915C>T	ENST00000408955.2	+	1	657	c.590C>T	c.(589-591)gCt>gTt	p.A197V		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCCAATGAGGCTGCCATCATG	0.488000													61	63					0	0	0.870114	0	0
FCRL2	79368	broad.mit.edu	37	1	157740261	157740261	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:157740261C>G	ENST00000361516.3	-	3	296	c.248G>C	c.(247-249)aGt>aCt	p.S83T	FCRL2_ENST00000368181.4_Missense_Mutation_p.S83T|FCRL2_ENST00000392274.3_Missense_Mutation_p.S83T	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	83	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCTTTGGTACTACAGAAATA	0.368000													27	51					0	0	0.717897	0	0
ZPBP2	124626	broad.mit.edu	37	17	38033057	38033057	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:38033057G>T	ENST00000377940.3	+	7	1085	c.946G>T	c.(946-948)Gat>Tat	p.D316Y	ZPBP2_ENST00000584588.1_Missense_Mutation_p.D265Y|ZPBP2_ENST00000348931.4_Missense_Mutation_p.D338Y	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	338					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCAATATGAAGATTAGAGGTG	0.383000													90	118					1.9362e-44	3.71168e-44	0.870114	1	0
TXNDC2	84203	broad.mit.edu	37	18	9887266	9887266	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:9887266C>A	ENST00000306084.6	+	2	989	c.790C>A	c.(790-792)Ccc>Acc	p.P264T	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.P197T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	264	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCCATCCAGCCCAAGCTGGG	0.597000													52	118					1.78197e-24	2.99743e-24	0.870114	1	0
RBM46	166863	broad.mit.edu	37	4	155719165	155719165	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:155719165C>G	ENST00000510397.1	+	3	533	c.354C>G	c.(352-354)atC>atG	p.I118M	RBM46_ENST00000514866.1_Missense_Mutation_p.I118M|RBM46_ENST00000281722.3_Missense_Mutation_p.I118M	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	118	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AATTAGCCATCAGAATTCTTA	0.343000													20	29					0	0	0.557998	0	0
AJAP1	55966	broad.mit.edu	37	1	4772703	4772703	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:4772703G>T	ENST00000378191.4	+	2	1154	c.773G>T	c.(772-774)aGt>aTt	p.S258I	AJAP1_ENST00000378190.3_Missense_Mutation_p.S258I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	258					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCTTCCACCAGTCCCAGCAAC	0.607000													21	125					1.33986e-20	2.11938e-20	0.681144	1	0
OR5T3	390154	broad.mit.edu	37	11	56020019	56020019	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:56020019T>A	ENST00000303059.3	+	1	344	c.344T>A	c.(343-345)tTc>tAc	p.F115Y		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTGGTCAATTTCCTGGCAAAA	0.363000													104	86					0	0	0.870114	0	0
DAG1	1605	broad.mit.edu	37	3	49569634	49569634	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:49569634C>T	ENST00000545947.1	+	6	2412	c.1690C>T	c.(1690-1692)Ctt>Ttt	p.L564F	DAG1_ENST00000308775.2_Missense_Mutation_p.L564F|DAG1_ENST00000538711.1_Missense_Mutation_p.L564F|DAG1_ENST00000515359.2_Missense_Mutation_p.L564F|DAG1_ENST00000539901.1_Missense_Mutation_p.L564F|DAG1_ENST00000541308.1_Missense_Mutation_p.L564F	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	564	Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATGTATGGCCTTCCCGACAG	0.582000													30	15					0	0	0.796494	0	0
CLCA4	22802	broad.mit.edu	37	1	87045773	87045773	+	Silent	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:87045773A>G	ENST00000370563.3	+	14	2547	c.2505A>G	c.(2503-2505)gaA>gaG	p.E835E	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	835						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATATCTCAGAAGAAAATGCAA	0.343000													14	48					0	0	0.500413	0	0
ZNF695	57116	broad.mit.edu	37	1	247151041	247151041	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:247151041T>C	ENST00000339986.7	-	4	923	c.776A>G	c.(775-777)gAg>gGg	p.E259G	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	259					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATGATTTTTCTCAACAACAGC	0.333000													7	18					0	0	0.278610	0	0
BMPER	168667	broad.mit.edu	37	7	34192757	34192757	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:34192757A>G	ENST00000297161.2	+	16	2304	c.1930A>G	c.(1930-1932)Aag>Gag	p.K644E	BMPER_ENST00000426693.1_Missense_Mutation_p.K644E	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	644	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGGATGTATCAAGACGTGTGA	0.507000													8	242					0	0	0.335167	0	0
ABCA4	24	broad.mit.edu	37	1	94522205	94522205	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:94522205C>T	ENST00000370225.3	-	15	2420	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	778					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGCGAAGCACAGGATGTGTG	0.577000													8	48					0	0	0.387290	0	0
PTCHD2	57540	broad.mit.edu	37	1	11591057	11591057	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:11591057G>T	ENST00000294484.6	+	16	3334	c.3196G>T	c.(3196-3198)Gtg>Ttg	p.V1066L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1066L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1066					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCCGAGCTGGTGAAGCCGGG	0.622000													36	150					2.24893e-16	3.3168e-16	0.847076	1	0
ZBED1	9189	broad.mit.edu	37	X	2408367	2408367	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:2408367C>A	ENST00000381223.4	-	2	597	c.394G>T	c.(394-396)Ggc>Tgc	p.G132C	ZBED1_ENST00000381222.2_Missense_Mutation_p.G132C|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.G132C	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	132						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGATGAGGCCCAGCACGGCG	0.701000													13	15					1.61879e-10	2.06612e-10	0.411799	1	0
CDAN1	146059	broad.mit.edu	37	15	43017368	43017368	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:43017368T>C	ENST00000356231.3	-	27	3555	c.3532A>G	c.(3532-3534)Agc>Ggc	p.S1178G		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1178						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGGTGGAGGCTGCCCAGGCAG	0.557000													29	24					0	0	0.788014	0	0
SI	6476	broad.mit.edu	37	3	164709164	164709164	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:164709164C>A	ENST00000264382.3	-	44	5147	c.5085G>T	c.(5083-5085)gaG>gaT	p.E1695D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1695	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTGAGCTGGCTCTTGACATG	0.373000										HNSCC(35;0.089)			51	100					1.1362e-29	2.01477e-29	0.870114	1	0
SLC26A7	115111	broad.mit.edu	37	8	92352712	92352712	+	Missense_Mutation	SNP	A	A	G	rs139932833		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:92352712A>G	ENST00000276609.3	+	8	1198	c.959A>G	c.(958-960)tAt>tGt	p.Y320C	SLC26A7_ENST00000523719.1_Missense_Mutation_p.Y320C|SLC26A7_ENST00000309536.2_Missense_Mutation_p.Y320C	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	320						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTGTAGGCTATGTGGCCTCA	0.507000													104	71					0	0	0.870114	0	0
ZNF250	58500	broad.mit.edu	37	8	146115728	146115728	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:146115728C>A	ENST00000292579.7	-	2	123	c.7G>T	c.(7-9)Gca>Tca	p.A3S	ZNF250_ENST00000417550.2_Missense_Mutation_p.A3S|ZNF250_ENST00000342660.6_Missense_Mutation_p.A3S|ZNF250_ENST00000543949.1_Missense_Mutation_p.A3S	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		AGTCTGGCTGCTGCCATCACC	0.642000													11	10					4.36969e-10	5.47746e-10	0.435327	1	0
LILRA6	79168	broad.mit.edu	37	19	54744265	54744265	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:54744265G>T	ENST00000419410.2	-	6	1144	c.1143C>A	c.(1141-1143)ttC>ttA	p.F381L	LILRA6_ENST00000245621.5_Missense_Mutation_p.F381L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.F381L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTCATGGGGAATTCAGCCT	0.572000													23	92					7.01153e-11	9.03126e-11	0.717897	1	0
RGAG4	340526	broad.mit.edu	37	X	71350436	71350436	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:71350436G>C	ENST00000545866.1	-	1	1322	c.955C>G	c.(955-957)Ctc>Gtc	p.L319V	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.L319V			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	319										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACTCCAGGGAGCGGGATAGGC	0.473000													6	113					0	0	0.248553	0	0
HKR1	284459	broad.mit.edu	37	19	37853636	37853636	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:37853636G>A	ENST00000591471.1	+	9	1761	c.120G>A	c.(118-120)aaG>aaA	p.K40K	HKR1_ENST00000324411.4_Silent_p.K313K|HKR1_ENST00000589392.1_Silent_p.K295K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Silent_p.K252K|HKR1_ENST00000544914.1_Silent_p.K40K|HKR1_ENST00000392153.3_Silent_p.K294K			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	313	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACGTGGAAGTCAAACCTGA	0.493000													22	89					0	0	0.667858	0	0
MAF	4094	broad.mit.edu	37	16	79632975	79632975	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:79632975G>T	ENST00000393350.1	-	1	1636	c.825C>A	c.(823-825)aaC>aaA	p.N275K	MAF_ENST00000326043.4_Missense_Mutation_p.N275K|MAF_ENST00000569649.1_Missense_Mutation_p.N275K	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	275	Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GCAGCTGCCGGTTCAGCTCGC	0.682000			T	IGH@	MM								6	37					0.0293803	0.0298518	0.248553	1	0
TRBV7-1	28597	broad.mit.edu	37	7	142032493	142032493	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:142032493G>T	ENST00000547918.2	+	0	346																											ACAGCAGGGGGACTTGGCTGT	0.557000													8	30					3.86212e-05	4.2283e-05	0.361761	1	0
ATRX	546	broad.mit.edu	37	X	76939598	76939598	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:76939598T>A	ENST00000373344.5	-	9	1364	c.1150A>T	c.(1150-1152)Agt>Tgt	p.S384C	ATRX_ENST00000395603.3_Missense_Mutation_p.S346C|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	384					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTAGCAGAACTGATTTCTGAA	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						122	64					0	0	0.870114	0	0
ZIM2	23619	broad.mit.edu	37	19	57286141	57286141	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:57286141C>G	ENST00000391708.3	-	12	2041	c.1499G>C	c.(1498-1500)gGg>gCg	p.G500A	ZIM2_ENST00000593711.1_Missense_Mutation_p.G500A|ZIM2_ENST00000221722.5_Missense_Mutation_p.G500A|ZIM2_ENST00000601070.1_Missense_Mutation_p.G500A|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.G500A|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GAAACATTTCCCACATAGCTG	0.443000													14	55					0	0	0.500413	0	0
PALLD	23022	broad.mit.edu	37	4	169433393	169433393	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:169433393C>A	ENST00000261509.6	+	2	949	c.738C>A	c.(736-738)aaC>aaA	p.N246K	PALLD_ENST00000505667.1_Missense_Mutation_p.N246K|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.N123K	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	246					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ACCAGGACAACCAGGACTTGG	0.607000									Pancreatic Cancer, Familial Clustering of				42	48					8.04919e-23	1.32555e-22	0.870114	1	0
POLR1A	25885	broad.mit.edu	37	2	86327196	86327196	+	Silent	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:86327196A>G	ENST00000263857.6	-	2	555	c.177T>C	c.(175-177)gaT>gaC	p.D59D	POLR1A_ENST00000409681.1_Silent_p.D59D			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	59					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTCTTTGGAATCTGCAGGGC	0.532000													15	42					0	0	0.479597	0	0
CCDC148	130940	broad.mit.edu	37	2	159195304	159195304	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:159195304T>C	ENST00000283233.5	-	7	1011	c.698A>G	c.(697-699)tAt>tGt	p.Y233C	CCDC148_ENST00000409187.1_Missense_Mutation_p.Y242C|CCDC148_ENST00000409889.1_Missense_Mutation_p.Y233C|CCDC148_ENST00000536771.1_Missense_Mutation_p.Y147C	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	233										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTAAACTTATAGAACTCACT	0.363000													15	37					0	0	0.479597	0	0
OR5M10	390167	broad.mit.edu	37	11	56344812	56344812	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:56344812G>T	ENST00000526812.2	-	1	451	c.386C>A	c.(385-387)cCt>cAt	p.P129H		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTAATGTAAAGGGCTGCAAAT	0.463000													80	81					3.05217e-42	5.80001e-42	0.870114	1	0
MROH2B	133558	broad.mit.edu	37	5	41054867	41054867	+	Splice_Site	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:41054867A>T	ENST00000399564.4	-	11	1558		c.e11+1		MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TAATTCTCTTACTTTTGTACT	0.338000													59	34					0	0	0.870114	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671932	77671932	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:77671932C>A	ENST00000407578.2	-	56	9623	c.9357G>T	c.(9355-9357)aaG>aaT	p.K3119N	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.K3081N|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K3081N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGACAATACCTTGTTTTTGT	0.363000													60	54					4.37588e-27	7.5482e-27	0.870114	1	0
PET112	5188	broad.mit.edu	37	4	152638065	152638065	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:152638065G>T	ENST00000263985.6	-	4	643	c.603C>A	c.(601-603)aaC>aaA	p.N201K	PET112_ENST00000515812.1_Missense_Mutation_p.N201K|PET112_ENST00000512306.1_Missense_Mutation_p.N201K	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	201						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAGACCTCAGGTTGTCGTGGA	0.517000													4	98					0.0215528	0.0219326	0.217242	1	0
ZNF626	199777	broad.mit.edu	37	19	20808347	20808347	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:20808347C>A	ENST00000601440.1	-	4	482	c.336G>T	c.(334-336)caG>caT	p.Q112H	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTTTTTTAACTGTAAATTGT	0.358000													10	55					0.361761	0.36287	0.361761	1	0
COL5A2	1290	broad.mit.edu	37	2	189944757	189944757	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:189944757C>A	ENST00000374866.3	-	14	1181	c.906_splice	c.e14-1	p.G303_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	303					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTTTGTGTCCCTGAGAATAA	0.348000													12	50					4.7546e-09	5.76841e-09	0.500413	1	0
ATP2A3	489	broad.mit.edu	37	17	3851060	3851060	+	Silent	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:3851060C>G	ENST00000309890.7	-	8	870	c.720G>C	c.(718-720)gcG>gcC	p.A240A	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.A240A|ATP2A3_ENST00000352011.3_Silent_p.A240A|ATP2A3_ENST00000397043.3_Silent_p.A240A|ATP2A3_ENST00000397041.3_Silent_p.A240A|ATP2A3_ENST00000397035.3_Silent_p.A240A	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	240					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTCGACTGCCGCCATCTGGC	0.677000													20	26					0	0	0.639603	0	0
HOXA5	3202	broad.mit.edu	37	7	27183097	27183097	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:27183097T>A	ENST00000222726.3	-	1	190	c.130A>T	c.(130-132)Agg>Tgg	p.R44W	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	44					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TAGCCGTACCTGCCGGAGTGC	0.622000													20	52					0	0	0.654019	0	0
CSMD3	114788	broad.mit.edu	37	8	113697904	113697904	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:113697904G>C	ENST00000297405.5	-	15	2457	c.2213C>G	c.(2212-2214)cCa>cGa	p.P738R	CSMD3_ENST00000343508.3_Missense_Mutation_p.P698R|CSMD3_ENST00000352409.3_Missense_Mutation_p.P738R|CSMD3_ENST00000455883.2_Missense_Mutation_p.P634R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	738	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACCCTTCTGGGTAATCAGG	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	164					0	0	0.654019	0	0
BPIFB1	92747	broad.mit.edu	37	20	31876596	31876596	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:31876596G>A	ENST00000253354.1	+	3	326	c.165G>A	c.(163-165)caG>caA	p.Q55Q		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	55						extracellular space	lipid binding										TCCTGCAGCAGCTGCCGCTGC	0.627000													42	30					0	0	0.840704	0	0
CD163	9332	broad.mit.edu	37	12	7633775	7633775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:7633775C>A	ENST00000359156.4	-	15	3527	c.3325G>T	c.(3325-3327)Gac>Tac	p.D1109Y	CD163_ENST00000432237.2_Missense_Mutation_p.D1109Y|CD163_ENST00000396620.3_Missense_Mutation_p.D1142Y|CD163_ENST00000541972.1_Missense_Mutation_p.D1097Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1109					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCATTAGGTCCAGATCATCT	0.458000													77	49					6.51614e-51	1.26897e-50	0.870114	1	0
MYO5C	55930	broad.mit.edu	37	15	52571809	52571809	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:52571809C>A	ENST00000261839.7	-	3	362	c.201G>T	c.(199-201)gtG>gtT	p.V67V	MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	67	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATTCTCGCCCACGAGGATGT	0.468000													21	33					1.1804e-14	1.6718e-14	0.667858	1	0
HOXB4	3214	broad.mit.edu	37	17	46654125	46654125	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:46654125C>T	ENST00000332503.5	-	2	2506	c.715G>A	c.(715-717)Ggg>Agg	p.G239R	HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	239						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CCAGGGGGCCCTCCGGCTGAG	0.672000													12	32					0	0	0.435327	0	0
NLRP10	338322	broad.mit.edu	37	11	7982410	7982410	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:7982410C>A	ENST00000328600.2	-	2	910	c.749G>T	c.(748-750)gGc>gTc	p.G250V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	250	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCATCAAAGCCATCCAGGAT	0.527000													22	33					2.32416e-17	3.49603e-17	0.624587	1	0
ABI3BP	25890	broad.mit.edu	37	3	100617648	100617648	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:100617648G>C	ENST00000471714.1	-	4	549	c.440C>G	c.(439-441)cCa>cGa	p.P147R	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P147R|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P147R			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	147	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTCATGGTGTGGGTTGATGAG	0.468000													28	81					0	0	0.729181	0	0
UTS2R	2837	broad.mit.edu	37	17	80333311	80333311	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:80333311G>T	ENST00000313135.2	+	1	1159	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	371						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGACAGCCTCGTGCTGGCCCC	0.786000													9	28					7.03913e-09	8.4876e-09	0.411799	1	0
ITPR2	3709	broad.mit.edu	37	12	26774108	26774108	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:26774108T>A	ENST00000381340.3	-	26	3826	c.3410A>T	c.(3409-3411)gAg>gTg	p.E1137V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1137					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTCTCCATTCTCATAGTTGCT	0.418000													222	160					0	0	0.870114	0	0
CATSPERD	257062	broad.mit.edu	37	19	5729887	5729887	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:5729887C>A	ENST00000381624.3	+	4	269	c.208C>A	c.(208-210)Caa>Aaa	p.Q70K	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	70						integral to membrane											TTTCAGGAAACAAGTTTTTTT	0.323000													9	36					1.12685e-05	1.25114e-05	0.307466	1	0
ATP8B4	79895	broad.mit.edu	37	15	50288949	50288949	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:50288949T>C	ENST00000284509.6	-	9	655	c.514A>G	c.(514-516)Aac>Gac	p.N172D	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N172D|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	172					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACTTTTAGGTTCGTTTCCCTG	0.408000													14	15					0	0	0.520397	0	0
BRD8	10902	broad.mit.edu	37	5	137504273	137504273	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:137504273T>A	ENST00000230901.5	-	9	762	c.747A>T	c.(745-747)gtA>gtT	p.V249V	BRD8_ENST00000402931.1_Intron|BRD8_ENST00000411594.2_Silent_p.V249V|BRD8_ENST00000254900.5_Intron|BRD8_ENST00000455658.2_Intron	NM_006696.3	NP_006687.3	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	206					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATCATCTGTTACTGGGGTCA	0.577000													27	27					0	0	0.717897	0	0
ZNF827	152485	broad.mit.edu	37	4	146806880	146806880	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:146806880C>G	ENST00000508784.1	-	4	1924	c.1697G>C	c.(1696-1698)aGc>aCc	p.S566T	ZNF827_ENST00000513320.1_Missense_Mutation_p.S216T|ZNF827_ENST00000379448.4_Missense_Mutation_p.S566T			Q17R98	ZN827_HUMAN	zinc finger protein 827	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GATGTCCTGGCTGAACAATGC	0.502000													39	53					0	0	0.870114	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303804	151303804	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:151303804C>T	ENST00000370323.4	-	4	605	c.289G>A	c.(289-291)Gtt>Att	p.V97I	MAGEA10_ENST00000244096.3_Missense_Mutation_p.V97I|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	97										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGAAGCAACGACCGAGGGG	0.537000													110	57					0	0	0.870114	0	0
PDE10A	10846	broad.mit.edu	37	6	165827126	165827126	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:165827126G>T	ENST00000366882.1	-	14	1265	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T	PDE10A_ENST00000539869.2_Missense_Mutation_p.P381T|PDE10A_ENST00000354448.4_Missense_Mutation_p.P371T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	371	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTGACGATGGGCATGCACAGG	0.463000													17	9					3.52763e-06	3.97745e-06	0.520397	1	0
COL4A5	1287	broad.mit.edu	37	X	107865999	107865999	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:107865999C>A	ENST00000328300.6	+	33	3105	c.2861C>A	c.(2860-2862)cCa>cAa	p.P954Q	COL4A5_ENST00000361603.2_Missense_Mutation_p.P954Q	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	954	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCTGGACCAATGGATCCA	0.468000									Alport syndrome with Diffuse Leiomyomatosis				23	18					6.32553e-13	8.54578e-13	0.681144	1	0
GPR152	390212	broad.mit.edu	37	11	67218940	67218940	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:67218940G>T	ENST00000312457.2	-	1	1260	c.1256C>A	c.(1255-1257)gCc>gAc	p.A419D		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	419						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CACAGAACTGGCAGCAGGTGC	0.627000													20	46					7.45023e-12	9.84172e-12	0.592651	1	0
CDH10	1008	broad.mit.edu	37	5	24535300	24535300	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:24535300C>A	ENST00000264463.4	-	5	1242	c.735G>T	c.(733-735)caG>caT	p.Q245H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	245	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCCTCCCATCTGGCCGCCCA	0.488000										HNSCC(23;0.051)			60	38					3.37043e-27	5.81896e-27	0.870114	1	0
ARHGEF18	23370	broad.mit.edu	37	19	7506854	7506854	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:7506854G>A	ENST00000359920.6	+	3	965	c.712G>A	c.(712-714)Gct>Act	p.A238T	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.A80T|CTD-2207O23.3_ENST00000593531.1_Silent_p.K195K	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	238					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CGAGTTTGAAGCTGAGTCCTG	0.582000													36	139					0	0	0.819951	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806708	6806708	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:6806708C>T	ENST00000307401.4	+	1	461	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGTGGCCACGTCCTGGATC	0.527000													26	29					0	0	0.740014	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602859	64602859	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:64602859A>T	ENST00000342711.5	-	16	1912	c.1913T>A	c.(1912-1914)cTg>cAg	p.L638Q		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	638					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TTCCTCCTGCAGCTGGCACAG	0.667000													133	353					0	0	0.870114	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055019	40055019	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:40055019G>T	ENST00000336649.4	+	15	2246	c.2246G>T	c.(2245-2247)cGc>cTc	p.R749L	CACNA1I_ENST00000401624.1_Missense_Mutation_p.R743L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R708L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R743L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R708L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R708L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	743					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AAACTGGTGCGCTTCATGCCT	0.637000													9	14					0.010729	0.0109693	0.387290	1	0
BNC2	54796	broad.mit.edu	37	9	16738391	16738391	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:16738391G>T	ENST00000380672.4	-	2	153	c.96C>A	c.(94-96)gtC>gtA	p.V32V	BNC2_ENST00000380666.2_Silent_p.V32V|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Silent_p.V32V	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CACAACATGGGACCTTGAAAT	0.438000													34	20					2.40579e-17	3.61053e-17	0.819951	1	0
FFAR3	2865	broad.mit.edu	37	19	35849879	35849879	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:35849879C>A	ENST00000327809.4	+	2	288	c.87C>A	c.(85-87)ctC>ctA	p.L29L	FFAR3_ENST00000594310.1_Silent_p.L29L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	29						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.L29L(2)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGTGGGGCTCCCCCTCAACC	0.647000													21	46					2.65835e-16	3.90302e-16	0.717897	1	0
TTN	7273	broad.mit.edu	37	2	179595716	179595716	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179595716T>C	ENST00000589042.1	-	60	17900	c.17676A>G	c.(17674-17676)gaA>gaG	p.E5892E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.E4648E|TTN_ENST00000591111.1_Silent_p.E5575E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5575	Ig-like 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAAAGTATATTCTCCACTAT	0.388000													33	178					0	0	0.812448	0	0
CCDC101	112869	broad.mit.edu	37	16	28601534	28601534	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:28601534A>T	ENST00000317058.3	+	6	594	c.407A>T	c.(406-408)aAg>aTg	p.K136M		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	136					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TGGATCGGGAAGCCTGGTGAC	0.657000													7	15					0	0	0.387290	0	0
SMCHD1	23347	broad.mit.edu	37	18	2796455	2796455	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:2796455G>T	ENST00000320876.6	+	47	6267	c.5929G>T	c.(5929-5931)Gtt>Ttt	p.V1977F	RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1977					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCACCAAAGGTTGAGACGAC	0.373000													8	19					0.000673444	0.000711885	0.361761	1	0
ZNF793	390927	broad.mit.edu	37	19	38028095	38028095	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:38028095G>T	ENST00000445217.1	+	4	570	c.535G>T	c.(535-537)Ggt>Tgt	p.G179C	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.G179C|ZNF793_ENST00000542455.1_Missense_Mutation_p.G179C			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATAAATCATGGTAGACGACC	0.408000													5	9					0.000602214	0.00063762	0.184627	1	0
GHDC	84514	broad.mit.edu	37	17	40344701	40344701	+	Silent	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:40344701T>A	ENST00000301671.8	-	4	888	c.447A>T	c.(445-447)ggA>ggT	p.G149G	GHDC_ENST00000414034.3_Silent_p.G149G|GHDC_ENST00000593209.1_Silent_p.G149G|GHDC_ENST00000587427.1_Silent_p.G149G|GHDC_ENST00000436923.2_Silent_p.G149G|GHDC_ENST00000428494.2_Silent_p.G110G			Q8N2G8	GHDC_HUMAN	GH3 domain containing	149						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGGCAGTGCGTCCCTGAGCCA	0.627000													32	56					0	0	0.834066	0	0
ESPNP	284729	broad.mit.edu	37	1	17026500	17026500	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:17026500C>A	ENST00000492551.1	-	0	1185					NR_026567.1																						CCGTCGTGGCCGTCGCAGGAG	0.721000													3	25					0.00909568	0.00932367	0.150653	1	0
TRBV7-8	28590	broad.mit.edu	37	7	142099915	142099915	+	RNA	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:142099915C>T	ENST00000390359.3	-	0	62																											CCAGGACCACCCAGCAGAGGA	0.532000													53	101					0	0	0.870114	0	0
UTP20	27340	broad.mit.edu	37	12	101723139	101723139	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:101723139A>G	ENST00000261637.4	+	27	3503	c.3329A>G	c.(3328-3330)cAt>cGt	p.H1110R		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1110					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACATTAGTCATCTGATCAGC	0.408000													96	60					0	0	0.870114	0	0
CRISP1	167	broad.mit.edu	37	6	49803149	49803149	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:49803149G>T	ENST00000335847.4	-	8	731	c.630C>A	c.(628-630)ccC>ccA	p.P210P	CRISP1_ENST00000355791.2_Silent_p.P210P|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000505118.1_Silent_p.P210P|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000507853.1_3'UTR	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	210					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGTAGATGCAGGGGTTAGCTG	0.363000													27	84					6.04164e-23	9.97456e-23	0.750413	1	0
LANCL2	55915	broad.mit.edu	37	7	55467690	55467690	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:55467690G>T	ENST00000254770.2	+	4	1149	c.571G>T	c.(571-573)Gac>Tac	p.D191Y	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	191					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CCAAGAATCAGACCTTCCTGA	0.438000													25	149					2.12542e-12	2.83052e-12	0.706142	1	0
SLC8A3	6547	broad.mit.edu	37	14	70515484	70515484	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:70515484C>A	ENST00000533541.1	-	4	716	c.478G>T	c.(478-480)Ggt>Tgt	p.G160C	SLC8A3_ENST00000381269.2_Splice_Site_p.D803_splice|SLC8A3_ENST00000357887.3_Splice_Site_p.D801_splice|SLC8A3_ENST00000528359.1_Splice_Site_p.D801_splice|SLC8A3_ENST00000534137.1_Splice_Site_p.D800_splice|SLC8A3_ENST00000216568.7_Splice_Site_p.D174_splice|SLC8A3_ENST00000394330.2_Splice_Site_p.D160_splice|SLC8A3_ENST00000356921.2_Splice_Site_p.D797_splice			P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	0					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCACTCTCACCTGGGACAGAG	0.498000													5	19					0.00116845	0.00122524	0.217242	1	0
SEL1L2	80343	broad.mit.edu	37	20	13845876	13845876	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:13845876T>C	ENST00000284951.5	-	17	1656	c.1582A>G	c.(1582-1584)Att>Gtt	p.I528V	SEL1L2_ENST00000378072.5_Silent_p.T472T|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	528						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTTCAAGAATGTTAGCCTTT	0.408000													12	30					0	0	0.411799	0	0
DOCK10	55619	broad.mit.edu	37	2	225738796	225738796	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:225738796T>A	ENST00000409592.3	-	11	1269	c.1156A>T	c.(1156-1158)Aag>Tag	p.K386*	DOCK10_ENST00000258390.7_Nonsense_Mutation_p.K392*			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	392							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATGATTCTCTTGGCAGCTTTT	0.368000													10	8					0	0	0.361761	0	0
ZNF304	57343	broad.mit.edu	37	19	57867855	57867855	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:57867855C>T	ENST00000391705.3	+	4	902	c.618C>T	c.(616-618)caC>caT	p.H206H	ZNF304_ENST00000443917.2_Silent_p.H253H|ZNF304_ENST00000598744.1_Silent_p.H164H|ZNF304_ENST00000282286.5_Silent_p.H206H	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTTTCCCACACAGCTCCAGTC	0.498000													25	56					0	0	0.667858	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404464	61404464	+	RNA	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:61404464A>T	ENST00000496593.1	+	0	1068					NR_002775.2																						GCTGCTGGCCAATAAGGTGCC	0.572000													7	22					0	0	0.307466	0	0
TTLL9	164395	broad.mit.edu	37	20	30497722	30497722	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:30497722G>T	ENST00000375938.4	+	6	754	c.501G>T	c.(499-501)aaG>aaT	p.K167N	TTLL9_ENST00000375921.2_Missense_Mutation_p.K117N|TTLL9_ENST00000310998.4_Missense_Mutation_p.K117N|TTLL9_ENST00000375934.4_Missense_Mutation_p.K149N|TTLL9_ENST00000535842.1_Missense_Mutation_p.K167N|TTLL9_ENST00000375922.4_Missense_Mutation_p.K117N			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	167	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGATCATGAAGCCTGTGAGTG	0.542000													12	43					1.05317e-09	1.30269e-09	0.457914	1	0
OR51A2	401667	broad.mit.edu	37	11	4976326	4976326	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:4976326G>A	ENST00000380371.1	-	1	617	c.618C>T	c.(616-618)ctC>ctT	p.L206L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATAAGGCAGAGTGCTCCAA	0.433000													23	24					0	0	0.796494	0	0
TCL1B	9623	broad.mit.edu	37	14	96157239	96157239	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:96157239G>C	ENST00000340722.7	+	2	380	c.329G>C	c.(328-330)gGc>gCc	p.G110A	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	110										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GCAGACCATGGCCAGGCAAGT	0.627000													21	47					0	0	0.654019	0	0
OR5D16	390144	broad.mit.edu	37	11	55607014	55607014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55607014G>T	ENST00000378396.1	+	1	787	c.787G>T	c.(787-789)Gta>Tta	p.V263L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCTCTACTGTGTACCCAACTC	0.527000													61	73					2.72615e-36	5.04377e-36	0.870114	1	0
AHNAK	79026	broad.mit.edu	37	11	62293114	62293114	+	Silent	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:62293114G>C	ENST00000378024.4	-	5	9049	c.8775C>G	c.(8773-8775)gtC>gtG	p.V2925V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2925					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCTGAGACATCAACGT	0.502000													73	180					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179634582	179634582	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179634582T>C	ENST00000589042.1	-	37	8950	c.8726A>G	c.(8725-8727)aAt>aGt	p.N2909S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N2863S|TTN_ENST00000460472.2_Missense_Mutation_p.N2863S|TTN_ENST00000342175.6_Missense_Mutation_p.N2863S|TTN_ENST00000342992.6_Missense_Mutation_p.N2909S|TTN_ENST00000591111.1_Missense_Mutation_p.N2909S|TTN_ENST00000360870.5_Missense_Mutation_p.N2909S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2647	Ig-like 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAAGGGACATTGAAGTGGGA	0.408000													33	109					0	0	0.796494	0	0
FAM171B	165215	broad.mit.edu	37	2	187627072	187627072	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:187627072C>G	ENST00000304698.5	+	8	2206	c.2003C>G	c.(2002-2004)cCg>cGg	p.P668R		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	668						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGCCCTCCCCGCATCCCAGA	0.483000													30	64					0	0	0.779181	0	0
TRPC3	7222	broad.mit.edu	37	4	122824058	122824058	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:122824058C>A	ENST00000264811.5	-	8	2611	c.2193G>T	c.(2191-2193)agG>agT	p.R731S	TRPC3_ENST00000379645.3_Missense_Mutation_p.R804S|TRPC3_ENST00000513531.1_Missense_Mutation_p.R676S	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	719					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAAGCCTTCTCCTTCTGCATT	0.363000													11	63					1.08611e-07	1.27134e-07	0.387290	1	0
P4HA1	5033	broad.mit.edu	37	10	74810857	74810857	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:74810857T>A	ENST00000412021.2	-	8	1187	c.854A>T	c.(853-855)gAg>gTg	p.E285V	P4HA1_ENST00000440381.1_Missense_Mutation_p.E285V|P4HA1_ENST00000373008.2_Missense_Mutation_p.E285V|P4HA1_ENST00000263556.3_Missense_Mutation_p.E285V|P4HA1_ENST00000394890.2_Missense_Mutation_p.E285V|P4HA1_ENST00000307116.2_Missense_Mutation_p.E285V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	285						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTCTGTCTCTCTGGCAGGTA	0.413000													16	280					0	0	0.608945	0	0
SMR3A	26952	broad.mit.edu	37	4	71232604	71232604	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:71232604C>G	ENST00000226460.4	+	3	394	c.298C>G	c.(298-300)Cca>Gca	p.P100A		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	100	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCTTATGGCCCAGGTTATCC	0.542000													79	98					0	0	0.870114	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698857	111698857	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:111698857C>A	ENST00000340433.2	+	1	1131	c.901C>A	c.(901-903)Ccg>Acg	p.P301T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	301							nucleic acid binding|zinc ion binding	p.P301S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCTCGAGCTCCGGCAACGAC	0.478000													15	12					8.60227e-14	1.19253e-13	0.500413	1	0
CCDC22	28952	broad.mit.edu	37	X	49105346	49105346	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:49105346C>T	ENST00000376227.3	+	13	1670	c.1500C>T	c.(1498-1500)atC>atT	p.I500I		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	500										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TCCTGGAGATCGTGGGCAACA	0.607000													3	9					0	0	0.115264	0	0
LAMC3	10319	broad.mit.edu	37	9	133942393	133942393	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:133942393G>A	ENST00000361069.4	+	14	2527	c.2394G>A	c.(2392-2394)ctG>ctA	p.L798L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	798	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGGACCCGCTGGGGCTCTTTG	0.652000													29	45					0	0	0.740014	0	0
MYT1L	23040	broad.mit.edu	37	2	1983000	1983000	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:1983000C>A	ENST00000399161.2	-	8	837		c.e8-1		MYT1L_ENST00000428368.2_Splice_Site	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTGGGACAGCTGCAACAGGA	0.542000													5	44					5.9392e-07	6.82591e-07	0.217242	1	0
OR2M2	391194	broad.mit.edu	37	1	248343813	248343813	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:248343813C>A	ENST00000359682.2	+	1	526	c.526C>A	c.(526-528)Cac>Aac	p.H176N		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAAATAGCCCACTTCTTCTG	0.418000													52	170					3.8688e-20	6.08043e-20	0.870114	1	0
FUBP1	8880	broad.mit.edu	37	1	78444628	78444628	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:78444628C>G	ENST00000370767.1	-	1	148	c.61G>C	c.(61-63)Ggc>Cgc	p.G21R	FUBP1_ENST00000370768.2_Missense_Mutation_p.G21R|FUBP1_ENST00000436586.2_Missense_Mutation_p.G21R			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	21	Gly-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ccaccaccgccgccaccaccg	0.602000			"""F, N"""		oligodendroglioma								39	41					0	0	0.804634	0	0
LDB1	8861	broad.mit.edu	37	10	103870879	103870879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:103870879G>A	ENST00000361198.5	-	4	711	c.88C>T	c.(88-90)Caa>Taa	p.Q30*	LDB1_ENST00000425280.1_Nonsense_Mutation_p.Q66*|LDB1_ENST00000490751.1_5'UTR	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	66					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TAGTCAGTTTGGTTGCCATAT	0.572000													43	48					0	0	0.870114	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33623090	33623090	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:33623090C>A	ENST00000252015.2	-	8	976	c.887G>T	c.(886-888)gGc>gTc	p.G296V	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.G257V|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.G296V|TRPC4AP_ENST00000539834.1_5'UTR			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	296	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTCAACAAAGCCAGGAATGCT	0.498000													5	58					0.014758	0.0150571	0.184627	1	0
CPXM1	56265	broad.mit.edu	37	20	2777718	2777718	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:2777718C>A	ENST00000380605.2	-	7	919	c.855G>T	c.(853-855)gaG>gaT	p.E285D		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	285					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGCAGGGGCCTCAAGGAATA	0.532000													11	27					7.93312e-07	9.07501e-07	0.457914	1	0
CSF1R	1436	broad.mit.edu	37	5	149437096	149437096	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:149437096G>T	ENST00000286301.3	-	16	2483	c.2192C>A	c.(2191-2193)aCt>aAt	p.T731N		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	731	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ATTTGAAGAAGTGGAGACAGG	0.562000													48	32					7.10663e-31	1.27284e-30	0.870114	1	0
ATP8B2	57198	broad.mit.edu	37	1	154318803	154318803	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:154318803G>C	ENST00000368489.3	+	25	2974	c.2974G>C	c.(2974-2976)Gcc>Ccc	p.A992P		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	978					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCTGCATCGCCCAGGGCAT	0.567000													34	64					0	0	0.827153	0	0
ELTD1	64123	broad.mit.edu	37	1	79392733	79392733	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:79392733A>T	ENST00000370742.3	-	8	984	c.921T>A	c.(919-921)ccT>ccA	p.P307P		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	307					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATGAAAGCAAAGGACCAATAC	0.294000													12	47					0	0	0.681144	0	0
C2orf78	388960	broad.mit.edu	37	2	74042569	74042569	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:74042569C>A	ENST00000409561.1	+	3	1340	c.1219C>A	c.(1219-1221)Caa>Aaa	p.Q407K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	407										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCTCTTGGCCAAGAGGAGCA	0.458000													7	31					0.00198382	0.0020714	0.248553	1	0
CLCN1	1180	broad.mit.edu	37	7	143018480	143018480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:143018480G>T	ENST00000343257.2	+	4	543	c.456G>T	c.(454-456)caG>caT	p.Q152H		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	152					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCTACGCGCAGATGCAGCCCA	0.617000													38	48					5.59293e-11	7.23726e-11	0.827153	1	0
CNRIP1	25927	broad.mit.edu	37	2	68544407	68544407	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:68544407A>C	ENST00000263655.3	-	2	817	c.212T>G	c.(211-213)cTg>cGg	p.L71R	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Missense_Mutation_p.L71R|CNRIP1_ENST00000409862.1_Missense_Mutation_p.L71R	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	71							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						CTTCAGTTCCAGTGGGACAAG	0.483000													13	82					0	0	0.557998	0	0
TMEM181	57583	broad.mit.edu	37	6	159006335	159006335	+	Splice_Site	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:159006335G>T	ENST00000367090.3	+	5	681		c.e5-1			NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181						pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TTCTTTTGTAGAAACTTCTAT	0.433000													17	19					0.000132079	0.000143007	0.575678	1	0
NLGN1	22871	broad.mit.edu	37	3	173996839	173996839	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:173996839G>T	ENST00000457714.1	+	6	1477	c.1048G>T	c.(1048-1050)Gct>Tct	p.A350S	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.A390S|NLGN1_ENST00000361589.4_Missense_Mutation_p.A350S|NLGN1_ENST00000545397.1_Missense_Mutation_p.A350S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	367					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TATTCAACCAGCTCGATACCA	0.423000													75	178					4.92795e-40	9.28365e-40	0.870114	1	0
PTPRT	11122	broad.mit.edu	37	20	40980791	40980791	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:40980791G>T	ENST00000373198.3	-	10	1930	c.1695C>A	c.(1693-1695)acC>acA	p.T565T	PTPRT_ENST00000373201.1_Silent_p.T565T|PTPRT_ENST00000373187.1_Silent_p.T565T|PTPRT_ENST00000373184.1_Silent_p.T565T|PTPRT_ENST00000373190.1_Silent_p.T565T|PTPRT_ENST00000373193.3_Silent_p.T565T|PTPRT_ENST00000356100.2_Silent_p.T565T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	565	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGCCTTGATGGTGAAGGAAT	0.527000													27	83					9.39395e-14	1.29679e-13	0.706142	1	0
AQP7	364	broad.mit.edu	37	9	33385655	33385655	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:33385655C>G	ENST00000537089.1	-	6	777	c.459G>C	c.(457-459)caG>caC	p.Q153H	AQP7_ENST00000541274.1_Missense_Mutation_p.G114R|AQP7_ENST00000539936.1_Missense_Mutation_p.Q245H|AQP7_ENST00000377425.4_Missense_Mutation_p.Q188H			O14520	AQP7_HUMAN	aquaporin 7	245					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ACCTGAAGACCTGTTTGCCCC	0.597000													14	151					0	0	0.479597	0	0
COL4A1	1282	broad.mit.edu	37	13	110830419	110830419	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:110830419C>G	ENST00000375820.4	-	32	2739	c.2618G>C	c.(2617-2619)gGg>gCg	p.G873A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	873	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTGGAAACCCAGGAATCCC	0.522000													30	41					0	0	0.788014	0	0
SF3B4	10262	broad.mit.edu	37	1	149895599	149895599	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:149895599C>A	ENST00000271628.8	-	6	1694	c.1110G>T	c.(1108-1110)ccG>ccT	p.P370P		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	370						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCATACCATGCGGAGGCATAG	0.577000													11	16					2.27111e-07	2.64111e-07	0.411799	1	0
ANK2	287	broad.mit.edu	37	4	114276281	114276281	+	Silent	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:114276281A>T	ENST00000357077.4	+	38	6560	c.6507A>T	c.(6505-6507)gtA>gtT	p.V2169V	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.V2136V|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2136					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGACCAAGTACTCACTAGTC	0.438000													25	43					0	0	0.693898	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768516	140768516	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140768516G>T	ENST00000519479.1	+	1	1065	c.1065G>T	c.(1063-1065)atG>atT	p.M355I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATTATGGAGGACGCCG	0.458000													42	38					1.30409e-13	1.79267e-13	0.870114	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515300	140515300	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140515300T>A	ENST00000231134.5	+	1	501	c.284T>A	c.(283-285)aTg>aAg	p.M95K		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		95	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGAGGTGATGTGCGGGGCG	0.443000													38	38					0	0	0.853193	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	64					0	0	0.150653	0	0
SYCP1	6847	broad.mit.edu	37	1	115428197	115428197	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:115428197C>A	ENST00000369522.3	+	13	1192	c.952C>A	c.(952-954)Cat>Aat	p.H318N	SYCP1_ENST00000369518.1_Missense_Mutation_p.H318N	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	318					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TGAGAAACAGCATCATTTGAC	0.279000													11	61					6.81908e-15	9.76357e-15	0.457914	1	0
PEG3	5178	broad.mit.edu	37	19	57328231	57328231	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:57328231G>T	ENST00000326441.9	-	10	1942	c.1579C>A	c.(1579-1581)Cat>Aat	p.H527N	PEG3_ENST00000598410.1_Missense_Mutation_p.H403N|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H401N|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H527N|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	527					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCTAGCATGAATCTTCCGA	0.438000													26	104					1.56442e-22	2.56769e-22	0.760397	1	0
ADCK3	56997	broad.mit.edu	37	1	227153107	227153107	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:227153107A>T	ENST00000366779.1	+	8	3355	c.584A>T	c.(583-585)cAg>cTg	p.Q195L	ADCK3_ENST00000366777.3_Missense_Mutation_p.Q195L|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366776.1_Missense_Mutation_p.Q120L|ADCK3_ENST00000366775.1_Missense_Mutation_p.Q40L|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.Q143L			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	195					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGCACAAACAGACGGTGCGT	0.627000													3	10					0	0	0.115264	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757145	56757145	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:56757145G>C	ENST00000326855.2	+	1	799	c.757G>C	c.(757-759)Ggg>Cgg	p.G253R		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CATTTTCTATGGGACACTCTC	0.398000													61	66					0	0	0.870114	0	0
ZFP57	346171	broad.mit.edu	37	6	29640954	29640954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:29640954G>A	ENST00000376883.1	-	6	1285	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ZFP57_ENST00000488757.1_Nonsense_Mutation_p.Q312*|ZFP57_ENST00000376881.3_Nonsense_Mutation_p.Q292*			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	228					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ATGGACCTCTGGCTTCTGGCG	0.547000													10	138					0	0	0.411799	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059603	11059603	+	Missense_Mutation	SNP	G	G	T	rs144322561		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:11059603G>T	ENST00000287766.4	+	4	734	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	105					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G105S(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GTGCTCCCTGGGCCAGTACAC	0.592000													110	54					4.20686e-72	8.37532e-72	0.870114	1	0
SNHG14	104472715	broad.mit.edu	37	15	25456951	25456951	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:25456951G>T	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TTGGGTCAATGATGAGAACCC	0.527000													41	216					1.22102e-19	1.90076e-19	0.870114	1	0
TBX5	6910	broad.mit.edu	37	12	114837434	114837434	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:114837434C>A	ENST00000310346.4	-	4	912	c.246G>T	c.(244-246)cgG>cgT	p.R82R	TBX5_ENST00000405440.2_Silent_p.R82R|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Silent_p.R82R|TBX5_ENST00000349716.5_Silent_p.R32R	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	82					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGGGAAACATCCGCCTAAGAG	0.473000													4	158					0.217242	0.218355	0.217242	1	0
LINGO1	84894	broad.mit.edu	37	15	77906831	77906831	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:77906831C>A	ENST00000355300.6	-	2	1592	c.1418G>T	c.(1417-1419)cGg>cTg	p.R473L	LINGO1_ENST00000561030.1_Missense_Mutation_p.R467L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	473	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GACTGTGAGCCGCCCATTGCT	0.667000													21	5					7.88262e-20	1.23197e-19	0.654019	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679816	53679816	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:53679816G>A	ENST00000262135.4	-	17	2497	c.2404C>T	c.(2404-2406)Ctg>Ttg	p.L802L	RPGRIP1L_ENST00000379925.3_Silent_p.L802L|RPGRIP1L_ENST00000564374.1_Silent_p.L802L|RPGRIP1L_ENST00000563746.1_Silent_p.L802L	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	802	C2 2.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CGGGACTGCAGGTGGTTGCAA	0.433000													36	91					0	0	0.812448	0	0
GLRB	2743	broad.mit.edu	37	4	158074127	158074127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:158074127G>T	ENST00000264428.4	+	9	1432	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	GLRB_ENST00000509282.1_Nonsense_Mutation_p.G388*|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	388					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TACTGTGAATGGAACAGGGAC	0.418000													19	40					4.47668e-21	7.14449e-21	0.667858	1	0
NCOR2	9612	broad.mit.edu	37	12	124862823	124862823	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:124862823G>A	ENST00000356219.3	-	19	2282	c.2127C>T	c.(2125-2127)ggC>ggT	p.G709G	NCOR2_ENST00000405201.1_Silent_p.G709G|NCOR2_ENST00000397355.1_Silent_p.G709G|NCOR2_ENST00000404121.2_Silent_p.G279G|NCOR2_ENST00000404621.1_Silent_p.G708G|NCOR2_ENST00000429285.2_Silent_p.G708G	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	709					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTCCGCTCACGCCCGACGCCT	0.672000													21	126					0	0	0.624587	0	0
MON1B	22879	broad.mit.edu	37	16	77228706	77228706	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:77228706C>T	ENST00000248248.3	+	4	1300	c.950C>T	c.(949-951)gCg>gTg	p.A317V	MON1B_ENST00000439557.2_Missense_Mutation_p.A208V|MON1B_ENST00000545553.1_Missense_Mutation_p.A171V|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	317							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CCAGCCTTTGCGGCGGGTGAG	0.627000													3	48					0	0	0.115264	0	0
RABGAP1	23637	broad.mit.edu	37	9	125772663	125772663	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr9:125772663G>A	ENST00000373647.4	+	11	1539	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	469					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GAATAATACTGACACTTTATA	0.343000													34	45					0	0	0.819951	0	0
TG	7038	broad.mit.edu	37	8	133883768	133883768	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:133883768G>T	ENST00000220616.4	+	4	490	c.450G>T	c.(448-450)ggG>ggT	p.G150G	TG_ENST00000377869.1_Silent_p.G150G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	150	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTGTATGGGACCCGCCAGC	0.607000													44	25					4.6707e-30	8.30488e-30	0.870114	1	0
ANGPTL5	253935	broad.mit.edu	37	11	101762182	101762182	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:101762182C>G	ENST00000334289.3	-	9	1590	c.995G>C	c.(994-996)gGc>gCc	p.G332A		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	332	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AAACCACCAGCCGGTCTTGTT	0.473000													60	176					0	0	0.870114	0	0
C14orf177	283598	broad.mit.edu	37	14	99183608	99183608	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:99183608G>T	ENST00000325812.2	+	4	794	c.375G>T	c.(373-375)atG>atT	p.M125I		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	125										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				TGTCACAGATGTAACTATTCT	0.408000													37	53					7.05121e-23	1.16315e-22	0.853193	1	0
BAGE2	85319	broad.mit.edu	37	21	11047594	11047594	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr21:11047594G>T	ENST00000470054.1	-	0	660									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTCCCGATTGTCTAAAAAGT	0.368000													34	355					7.04047e-22	1.14313e-21	0.812448	1	0
NGDN	25983	broad.mit.edu	37	14	23944502	23944502	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:23944502G>T	ENST00000397154.3	+	4	280	c.267G>T	c.(265-267)ctG>ctT	p.L89L	NGDN_ENST00000408901.3_Silent_p.L89L			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	89	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TTTTGAGACTGGTGGAGATTC	0.453000													25	38					1.39806e-14	1.97296e-14	0.729181	1	0
NELL1	4745	broad.mit.edu	37	11	21135251	21135251	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:21135251T>A	ENST00000298925.5	+	14	1654	c.1501T>A	c.(1501-1503)Tct>Act	p.S501T	NELL1_ENST00000325319.5_Missense_Mutation_p.S416T|NELL1_ENST00000532434.1_Missense_Mutation_p.S473T|NELL1_ENST00000357134.5_Missense_Mutation_p.S473T			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	473	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGATGACTTCTCTTGTACAGG	0.403000													60	45					0	0	0.870114	0	0
F2RL2	2151	broad.mit.edu	37	5	75913853	75913853	+	Missense_Mutation	SNP	G	G	T	rs113440427	byFrequency	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:75913853G>T	ENST00000296641.4	-	2	882	c.679C>A	c.(679-681)Cca>Aca	p.P227T	IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.P205T|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	227					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		ATGAAAAATGGCAGCATATAT	0.488000													18	15					3.41278e-10	4.30823e-10	0.520397	1	0
OXR1	55074	broad.mit.edu	37	8	107691473	107691473	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:107691473G>T	ENST00000445937.1	+	4	517	c.256G>T	c.(256-258)Gga>Tga	p.G86*	OXR1_ENST00000517566.2_Nonsense_Mutation_p.G86*|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Nonsense_Mutation_p.G19*|OXR1_ENST00000312046.6_Nonsense_Mutation_p.G79*|OXR1_ENST00000442977.2_Nonsense_Mutation_p.G87*|OXR1_ENST00000531443.1_Nonsense_Mutation_p.G86*	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	87					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CAAGAAAGATGGAAGACGAAT	0.338000													45	34					1.95512e-22	3.20092e-22	0.870114	1	0
SF3B1	23451	broad.mit.edu	37	2	198281636	198281636	+	Splice_Site	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:198281636C>G	ENST00000335508.5	-	6	587		c.e6-1		SF3B1_ENST00000409915.4_Splice_Site	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAATTTCTCGCTGAAAAAAAC	0.393000			Mis		myelodysplastic syndrome								16	78					0	0	0.575678	0	0
LRRC14B	389257	broad.mit.edu	37	5	195088	195088	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:195088C>G	ENST00000328278.3	+	2	1193	c.1165C>G	c.(1165-1167)Cgg>Ggg	p.R389G		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	389										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCCCTGCCACCGGCTGCGCCA	0.672000													7	6					0	0	0.278610	0	0
DDX4	54514	broad.mit.edu	37	5	55086461	55086461	+	Silent	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:55086461A>G	ENST00000505374.1	+	16	1322	c.1230A>G	c.(1228-1230)cgA>cgG	p.R410R	DDX4_ENST00000354991.5_Silent_p.R376R|DDX4_ENST00000353507.5_Silent_p.R376R|DDX4_ENST00000511853.1_Silent_p.R261R|DDX4_ENST00000514278.2_Silent_p.R390R	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	410	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTCAATTCGACAAATAGTAC	0.348000													72	53					0	0	0.870114	0	0
SERPINA3	12	broad.mit.edu	37	14	95085752	95085752	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:95085752A>C	ENST00000553947.1	+	6	1827	c.939A>C	c.(937-939)gaA>gaC	p.E313D	SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E288D|SERPINA3_ENST00000482740.1_Missense_Mutation_p.E70D|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E288D|SERPINA3_ENST00000467132.1_Missense_Mutation_p.E288D			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	288					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGAAGTGGAAGCCATGCTGC	0.577000													11	67					0	0	0.411799	0	0
SULF2	55959	broad.mit.edu	37	20	46305285	46305285	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:46305285G>T	ENST00000359930.4	-	10	2184	c.1333C>A	c.(1333-1335)Ctg>Atg	p.L445M	SULF2_ENST00000484875.1_Missense_Mutation_p.L445M|SULF2_ENST00000467815.1_Missense_Mutation_p.L445M|SULF2_ENST00000361612.4_Missense_Mutation_p.L445M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	445					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGCTGACACAGGTCCTTCACA	0.602000													8	11					5.4927e-09	6.63927e-09	0.307466	1	0
ZP4	57829	broad.mit.edu	37	1	238053194	238053194	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:238053194G>T	ENST00000366570.4	-	3	531	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	125					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CACTTGAGCAGCTTCCTCTCT	0.562000													46	156					3.53049e-34	6.45885e-34	0.870114	1	0
USP24	23358	broad.mit.edu	37	1	55562681	55562681	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:55562681G>A	ENST00000294383.6	-	49	5879	c.5880C>T	c.(5878-5880)atC>atT	p.I1960I	USP24_ENST00000407756.1_Silent_p.I1800I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1960					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CACTGTGTACGATGACACCGA	0.527000													15	19					0	0	0.624587	0	0
STON2	85439	broad.mit.edu	37	14	81743644	81743644	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:81743644G>A	ENST00000555447.1	-	6	2423	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W	STON2_ENST00000267540.2_Missense_Mutation_p.R671W	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	671	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCTCAAACCGGCACGCATCC	0.522000													48	81					0	0	0.870114	0	0
ALX4	60529	broad.mit.edu	37	11	44297061	44297061	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:44297061G>T	ENST00000329255.3	-	2	717	c.614C>A	c.(613-615)gCc>gAc	p.A205D		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	205					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTCTGAGTCGGCCTTCTCCAA	0.622000													66	81					5.14759e-42	9.76301e-42	0.870114	1	0
SERPINB11	89778	broad.mit.edu	37	18	61383336	61383336	+	RNA	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:61383336C>A	ENST00000544088.1	+	0	487				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GAACAGTCTACAGAAGAAACG	0.343000													14	10					8.34094e-07	9.53597e-07	0.575678	1	0
LRIT2	340745	broad.mit.edu	37	10	85984181	85984181	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:85984181C>A	ENST00000372113.4	-	2	805	c.800G>T	c.(799-801)gGa>gTa	p.G267V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G267V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	267	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CACATTCTGTCCTGCCCGGAT	0.527000													46	50					5.12918e-33	9.30552e-33	0.870114	1	0
MKL2	57496	broad.mit.edu	37	16	14340988	14340988	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:14340988C>T	ENST00000571589.1	+	12	2043	c.1871C>T	c.(1870-1872)tCt>tTt	p.S624F	MKL2_ENST00000318282.5_Missense_Mutation_p.S624F|MKL2_ENST00000341243.5_Missense_Mutation_p.S613F|MKL2_ENST00000574045.1_Missense_Mutation_p.S624F	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	613					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGGTCATTCTGTCAAGTCA	0.587000													21	35					0	0	0.654019	0	0
FBLN1	2192	broad.mit.edu	37	22	45914640	45914640	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:45914640C>T	ENST00000348697.2	+	2	305	c.158C>T	c.(157-159)cCa>cTa	p.P53L	FBLN1_ENST00000340923.5_Missense_Mutation_p.P53L|FBLN1_ENST00000327858.6_Missense_Mutation_p.P53L|FBLN1_ENST00000262722.7_Missense_Mutation_p.P53L|FBLN1_ENST00000442170.2_Missense_Mutation_p.P53L|FBLN1_ENST00000402984.3_Missense_Mutation_p.P53L			P23142	FBLN1_HUMAN	fibulin 1	53	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCTCGCTGCCATATGCTACG	0.552000													7	17					0	0	0.335167	0	0
MUC17	140453	broad.mit.edu	37	7	100699540	100699540	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:100699540C>A	ENST00000306151.4	+	12	13493	c.13429C>A	c.(13429-13431)Cct>Act	p.P4477T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4477						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACATAGACCCTGAAACAAA	0.493000													15	56					1.99824e-07	2.32792e-07	0.520397	1	0
SP140	11262	broad.mit.edu	37	2	231155274	231155274	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:231155274A>G	ENST00000392045.3	+	19	1934	c.1820A>G	c.(1819-1821)cAg>cGg	p.Q607R	SP140_ENST00000350136.5_Missense_Mutation_p.Q476R|SP140_ENST00000343805.6_Missense_Mutation_p.Q547R|SP140_ENST00000417495.3_Missense_Mutation_p.Q493R|SP140_ENST00000420434.3_Missense_Mutation_p.Q580R|SP140_ENST00000486687.2_Missense_Mutation_p.Q531R	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	607	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAGAAATTGCAGCAAGGTAGG	0.403000													20	36					0	0	0.608945	0	0
AJAP1	55966	broad.mit.edu	37	1	4772524	4772524	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:4772524G>T	ENST00000378191.4	+	2	975	c.594G>T	c.(592-594)ccG>ccT	p.P198P	AJAP1_ENST00000378190.3_Silent_p.P198P	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	198	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACACATTTCCGGGCGTTTACG	0.657000													6	10					5.18039e-06	5.82757e-06	0.278610	1	0
VCAN	1462	broad.mit.edu	37	5	82815327	82815327	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:82815327T>C	ENST00000265077.3	+	7	1767	c.1202T>C	c.(1201-1203)aTt>aCt	p.I401T	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.I353T|VCAN_ENST00000342785.4_Missense_Mutation_p.I401T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	401	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTGGGAAATATTGTCAGTTTT	0.443000													47	37					0	0	0.870114	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131571	142131571	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:142131571G>T	ENST00000390375.2	-	0	224																											ATAAACTGGGGCCCCTGACCC	0.507000													30	65					3.90053e-15	5.61756e-15	0.760397	1	0
MUC16	94025	broad.mit.edu	37	19	9057435	9057435	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:9057435G>T	ENST00000397910.4	-	3	30214	c.30011C>A	c.(30010-30012)cCt>cAt	p.P10004H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10006	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGATTTTCAGGACTCCTACT	0.458000													13	43					0.000151284	0.000163441	0.435327	1	0
GPR50	9248	broad.mit.edu	37	X	150345153	150345153	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:150345153C>A	ENST00000218316.3	+	0	29				GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50						cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGCTGATCCTGAGCCTGC	0.577000													38	14					3.38236e-24	5.67e-24	0.827153	1	0
TMEM106A	113277	broad.mit.edu	37	17	41367886	41367886	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:41367886G>C	ENST00000331615.3	+	5	592	c.355G>C	c.(355-357)Gtc>Ctc	p.V119L	TMEM106A_ENST00000588659.1_Missense_Mutation_p.V119L|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.V71L|TMEM106A_ENST00000536052.1_Missense_Mutation_p.V119L	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	119						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		TCCCCGGTCCGTCATTGTGCA	0.562000													81	227					0	0	0.870114	0	0
GCN1L1	10985	broad.mit.edu	37	12	120616755	120616755	+	Splice_Site	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:120616755T>A	ENST00000300648.6	-	6	439		c.e6-2			NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACTTCCACCTGCCAGGACCA	0.572000													23	13					0	0	0.681144	0	0
ZNF655	79027	broad.mit.edu	37	7	99169920	99169920	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:99169920G>T	ENST00000424881.1	+	4	514	c.294G>T	c.(292-294)tcG>tcT	p.S98S	ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Silent_p.S63S|ZNF655_ENST00000252713.4_Silent_p.S63S|ZNF655_ENST00000493277.1_Silent_p.S98S	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	63					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGAAAATTTCGGAAGAAGTGC	0.378000													42	54					9.52127e-25	1.61262e-24	0.870114	1	0
KCNG1	3755	broad.mit.edu	37	20	49620726	49620726	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:49620726G>T	ENST00000371571.4	-	3	1677	c.1392C>A	c.(1390-1392)tcC>tcA	p.S464S	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	464						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTAGGAGCGGGAGAAGGTGT	0.617000													12	56					0.0167234	0.0170535	0.435327	1	0
PLCB2	5330	broad.mit.edu	37	15	40590836	40590836	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:40590836C>A	ENST00000260402.3	-	10	1173	c.924G>T	c.(922-924)ctG>ctT	p.L308L	PLCB2_ENST00000456256.2_Silent_p.L308L|PLCB2_ENST00000557821.1_Silent_p.L308L	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	308					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGTGGAGCAGCAGCTTGTCCT	0.572000													26	17					3.73988e-18	5.69984e-18	0.706142	1	0
PEAR1	375033	broad.mit.edu	37	1	156879870	156879870	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:156879870G>A	ENST00000338302.3	+	14	1873	c.1648G>A	c.(1648-1650)Gga>Aga	p.G550R	PEAR1_ENST00000292357.7_Missense_Mutation_p.G550R			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	550						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTGTTCATGGACGCTGTCA	0.577000											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	104					0	0	0.870114	0	0
CENPF	1063	broad.mit.edu	37	1	214820452	214820452	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:214820452C>A	ENST00000366955.3	+	13	7707	c.7539C>A	c.(7537-7539)ggC>ggA	p.G2513G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2609	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TAGAAGATGGCAAGCAGAAAC	0.408000													11	17					1.05317e-09	1.30269e-09	0.457914	1	0
ACOT12	134526	broad.mit.edu	37	5	80640015	80640015	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:80640015C>T	ENST00000307624.3	-	9	972	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	315					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AATAGCTCCCCGATAGCGTCT	0.333000													21	32					0	0	0.693898	0	0
SPTA1	6708	broad.mit.edu	37	1	158655095	158655095	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:158655095C>T	ENST00000368148.3	-	2	247	c.67G>A	c.(67-69)Gag>Aag	p.E23K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E23K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	23					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E23Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTGGATCTCTTCTGCTGTT	0.463000													5	120					0	0	0.307466	0	0
SULF2	55959	broad.mit.edu	37	20	46305829	46305829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:46305829C>A	ENST00000359930.4	-	9	2094	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*	SULF2_ENST00000484875.1_Nonsense_Mutation_p.E415*|SULF2_ENST00000467815.1_Nonsense_Mutation_p.E415*|SULF2_ENST00000361612.4_Nonsense_Mutation_p.E415*	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	415					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CACCCTCTCTCCACCAAGAAG	0.582000													13	96					5.35267e-07	6.17712e-07	0.557998	1	0
ANK3	288	broad.mit.edu	37	10	61829077	61829077	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:61829077C>G	ENST00000280772.1	-	37	11753	c.11562G>C	c.(11560-11562)aaG>aaC	p.K3854N	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3854					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTATCAATTCCTTTGTTTTTT	0.398000													87	72					0	0	0.870114	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631808	122631808	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:122631808G>C	ENST00000195173.4	-	18	2907	c.2604C>G	c.(2602-2604)tgC>tgG	p.C868W	SEMA5B_ENST00000451055.2_Missense_Mutation_p.C923W|SEMA5B_ENST00000357599.3_Missense_Mutation_p.C869W			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	869	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGCCCAGCTCGCAGTCCCGGG	0.731000													15	26					0	0	0.479597	0	0
GRIK2	2898	broad.mit.edu	37	6	102074333	102074333	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:102074333T>C	ENST00000369138.1	+	3	852	c.362T>C	c.(361-363)aTc>aCc	p.I121T	GRIK2_ENST00000421544.1_Missense_Mutation_p.I121T|GRIK2_ENST00000369134.4_Missense_Mutation_p.I72T|GRIK2_ENST00000358361.3_Missense_Mutation_p.I121T|GRIK2_ENST00000369137.3_Missense_Mutation_p.I121T|GRIK2_ENST00000318991.6_Missense_Mutation_p.I121T|GRIK2_ENST00000413795.1_Missense_Mutation_p.I121T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	121					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTGCAGTCCATCTGCAATGCT	0.527000													49	47					0	0	0.870114	0	0
RABGGTB	5876	broad.mit.edu	37	1	76257940	76257940	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:76257940G>T	ENST00000319942.3	+	7	725	c.654G>T	c.(652-654)tgG>tgT	p.W218C	RABGGTB_ENST00000535300.1_Missense_Mutation_p.W44C|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	218					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TTGGCTGGTGGCTTTGTGAAC	0.398000													17	95					4.35082e-09	5.29161e-09	0.592651	1	0
TECTA	7007	broad.mit.edu	37	11	121060541	121060541	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:121060541T>A	ENST00000392793.1	+	23	6590	c.6319T>A	c.(6319-6321)Tgc>Agc	p.C2107S	TECTA_ENST00000264037.2_Missense_Mutation_p.C2107S			O75443	TECTA_HUMAN	tectorin alpha	2107					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGGGCCTCTCTGCAGCTGTGT	0.562000													57	88					0	0	0.870114	0	0
KIF19	124602	broad.mit.edu	37	17	72346569	72346569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:72346569G>T	ENST00000389916.4	+	11	1381	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	415					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGGGCAGGGTGAGAAGGCTGG	0.662000													5	11					0.27861	0.279894	0.278610	1	0
XYLT1	64131	broad.mit.edu	37	16	17211686	17211686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:17211686C>A	ENST00000261381.6	-	11	2458	c.2374G>T	c.(2374-2376)Gca>Tca	p.A792S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	792					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TAGGTGGCTGCGATGACATTG	0.557000													23	93					3.65163e-15	5.26682e-15	0.706142	1	0
RADIL	55698	broad.mit.edu	37	7	4917566	4917566	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:4917566C>A	ENST00000399583.3	-	2	392	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W	RADIL_ENST00000536091.1_Missense_Mutation_p.G69W	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	69	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACACTGTCCCCAAACACCTTC	0.672000													5	31					1.12685e-05	1.25114e-05	0.307466	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554318	140554318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140554318C>A	ENST00000231137.3	+	1	2076	c.1902C>A	c.(1900-1902)gaC>gaA	p.D634E		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		634	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCGCGACGCAGCCAAGC	0.692000													28	399					5.43694e-19	8.37732e-19	0.812448	1	0
GRIA2	2891	broad.mit.edu	37	4	158282693	158282693	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:158282693C>T	ENST00000296526.7	+	14	2620	c.2295C>T	c.(2293-2295)acC>acT	p.T765T	GRIA2_ENST00000449365.1_Silent_p.T718T|GRIA2_ENST00000264426.9_Intron|GRIA2_ENST00000507898.1_Silent_p.T718T|GRIA2_ENST00000393815.2_Silent_p.T718T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	765					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CGTGAAGAACCCCAGTAAATC	0.353000													12	35					0	0	0.411799	0	0
OR4K2	390431	broad.mit.edu	37	14	20345205	20345205	+	Missense_Mutation	SNP	G	G	T	rs139042360		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:20345205G>T	ENST00000298642.2	+	1	815	c.779G>T	c.(778-780)tGg>tTg	p.W260L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTACATGTGGCCACTAAGC	0.403000													25	144					9.17885e-22	1.48541e-21	0.779181	1	0
SLC26A8	116369	broad.mit.edu	37	6	35923030	35923030	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:35923030G>T	ENST00000490799.1	-	17	2484	c.2131C>A	c.(2131-2133)Cct>Act	p.P711T	SLC26A8_ENST00000355574.2_Missense_Mutation_p.P711T|SLC26A8_ENST00000394602.2_Missense_Mutation_p.P606T	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	711	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTGAGTAAGGGATGAGTGAT	0.507000													15	80					3.52763e-06	3.97745e-06	0.520397	1	0
CDCP1	64866	broad.mit.edu	37	3	45153607	45153607	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:45153607C>A	ENST00000296129.1	-	3	757	c.623G>T	c.(622-624)gGc>gTc	p.G208V	CDCP1_ENST00000425231.2_Missense_Mutation_p.G208V	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	208						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AATGCTGAAGCCGGAGACATT	0.478000													65	42					4.12397e-46	7.96004e-46	0.870114	1	0
CLIP4	79745	broad.mit.edu	37	2	29358412	29358412	+	Splice_Site	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:29358412A>T	ENST00000320081.5	+	6	784		c.e6-1		CLIP4_ENST00000401617.2_Splice_Site|CLIP4_ENST00000401605.1_Splice_Site|CLIP4_ENST00000404424.1_Splice_Site	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4											endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GTTTAATTGCAGATGTGGATG	0.378000													13	57					0	0	0.500413	0	0
ARMC5	79798	broad.mit.edu	37	16	31477280	31477280	+	Silent	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:31477280G>T	ENST00000408912.3	+	7	2576	c.2259G>T	c.(2257-2259)gcG>gcT	p.A753A	ARMC5_ENST00000268314.4_Silent_p.A658A|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000538189.1_Silent_p.A690A|ARMC5_ENST00000412665.2_Silent_p.A302A|ARMC5_ENST00000563544.1_Silent_p.A658A			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	658	BTB.						binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGCCTGCGCGCTGACCCTGC	0.642000													64	78					6.08991e-19	9.36872e-19	0.870114	1	0
SYTL2	54843	broad.mit.edu	37	11	85431930	85431930	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:85431930C>A	ENST00000359152.5	-	2	4069	c.4070G>T	c.(4069-4071)aGt>aTt	p.S1357I	SYTL2_ENST00000389960.4_Missense_Mutation_p.S511I|SYTL2_ENST00000524452.1_Missense_Mutation_p.S511I|SYTL2_ENST00000525423.1_Missense_Mutation_p.S833I|SYTL2_ENST00000528231.1_Missense_Mutation_p.S511I|SYTL2_ENST00000316356.4_Missense_Mutation_p.S512I|SYTL2_ENST00000527523.1_Missense_Mutation_p.S463I|SYTL2_ENST00000354566.3_Missense_Mutation_p.S833I	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	511					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTCTTCTAGACTTTTGGAAGG	0.403000													16	47					0.000175454	0.000189032	0.592651	1	0
RPAP1	26015	broad.mit.edu	37	15	41810249	41810249	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:41810249C>A	ENST00000561603.1	-	22	3284	c.3170G>T	c.(3169-3171)tGg>tTg	p.W1057L	RPAP1_ENST00000304330.4_Silent_p.V1309V			Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	0	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGACATGAGCCACAGCCACAG	0.552000													35	50					1.5731e-28	2.76207e-28	0.859065	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725983	140725983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140725983C>T	ENST00000253812.6	+	1	2383	c.2383C>T	c.(2383-2385)Cag>Tag	p.Q795*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGATAACTCAGGATTTACT	0.418000													59	29					0	0	0.870114	0	0
ABAT	18	broad.mit.edu	37	16	8868783	8868783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:8868783G>T	ENST00000396600.2	+	13	1929	c.991G>T	c.(991-993)Gga>Tga	p.G331*	ABAT_ENST00000567812.1_Nonsense_Mutation_p.G346*|ABAT_ENST00000425191.2_Nonsense_Mutation_p.G331*|ABAT_ENST00000268251.8_Nonsense_Mutation_p.G331*|ABAT_ENST00000569156.1_Nonsense_Mutation_p.G331*	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	331					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTCCAGACCGGAGGAGGCTG	0.597000													9	83					3.86212e-05	4.2283e-05	0.361761	1	0
ZIC4	84107	broad.mit.edu	37	3	147120541	147120541	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:147120541A>T	ENST00000383075.3	-	2	556	c.44T>A	c.(43-45)cTt>cAt	p.L15H	ZIC4_ENST00000473123.1_Missense_Mutation_p.L15H|ZIC4_ENST00000425731.3_Missense_Mutation_p.L53H|ZIC4_ENST00000484399.1_Missense_Mutation_p.L15H|ZIC4_ENST00000525172.2_Missense_Mutation_p.L65H|ZIC4_ENST00000491672.1_Missense_Mutation_p.L15H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	15						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTTTCGGTAAAGCCGTAATCG	0.343000													52	112					0	0	0.870114	0	0
SLC12A5	57468	broad.mit.edu	37	20	44669089	44669089	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:44669089G>A	ENST00000454036.1	+	7	835	c.759G>A	c.(757-759)atG>atA	p.M253I	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000372315.1_Missense_Mutation_p.M230I|SLC12A5_ENST00000243964.3_Missense_Mutation_p.M230I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	253					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGAACAACATGCGTGTTTACG	0.542000													19	77					0	0	0.539581	0	0
CXorf48	54967	broad.mit.edu	37	X	134294449	134294449	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:134294449G>T	ENST00000344129.2	-	3	537	c.311C>A	c.(310-312)gCt>gAt	p.A104D	CXorf48_ENST00000276241.6_Missense_Mutation_p.A104D	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	104										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TGAGGGTCCAGCACCATAAAG	0.328000													23	12					4.22769e-11	5.50329e-11	0.706142	1	0
DPYD	1806	broad.mit.edu	37	1	98015165	98015165	+	Missense_Mutation	SNP	G	G	A	rs72549304		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:98015165G>A	ENST00000370192.3	-	12	1575	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	492					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATCATTCACCGATTCCACTGT	0.428000													24	106					0	0	0.750413	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778528	31778528	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:31778528C>A	ENST00000375654.4	-	2	1411	c.1222G>T	c.(1222-1224)Gct>Tct	p.A408S	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A408S	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	408				A -> V (in Ref. 1; AAA63228).	response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACGCCCCCAGCCGTCTCCAGC	0.607000													28	125					7.11191e-15	1.01458e-14	0.769981	1	0
KIAA1324	57535	broad.mit.edu	37	1	109742856	109742856	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:109742856A>G	ENST00000369939.3	+	20	2987	c.2804A>G	c.(2803-2805)cAa>cGa	p.Q935R	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.Q848R	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	935					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AAAAAGAATCAAAAGTACATG	0.438000													53	80					0	0	0.870114	0	0
LOC440040	440040	broad.mit.edu	37	11	49805499	49805499	+	RNA	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:49805499G>A	ENST00000527477.1	+	0	1187																											AGCTGCTGAAGAAGCTCACAA	0.532000													11	10					0	0	0.520397	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981476	64981476	+	RNA	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:64981476G>T	ENST00000525437.1	+	0	166							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTTCACGGCCGCTGTCCCCCC	0.687000													8	16					5.50884e-06	6.17229e-06	0.411799	1	0
CDH24	64403	broad.mit.edu	37	14	23521286	23521286	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:23521286C>A	ENST00000397359.3	-	9	1629	c.1370G>T	c.(1369-1371)aGc>aTc	p.S457I	CDH24_ENST00000267383.5_Missense_Mutation_p.S457I|CDH24_ENST00000554034.1_Intron|CDH24_ENST00000487137.2_Intron	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	457	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGGCCCCCAGCTCCAGCCTGA	0.582000													4	10					1.024e-07	1.20366e-07	0.184627	1	0
PGA5	5222	broad.mit.edu	37	11	61017438	61017438	+	Silent	SNP	C	C	T	rs141863509		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:61017438C>T	ENST00000312403.5	+	8	1154	c.969C>T	c.(967-969)acC>acT	p.T323T	PGA5_ENST00000541528.1_Silent_p.T63T|PGA5_ENST00000451616.2_Silent_p.T169T|PGA4_ENST00000422676.2_Silent_p.T323T	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	323					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						TCGTCTTCACCATCAATGGAG	0.552000													8	21					0	0	0.361761	0	0
GAS7	8522	broad.mit.edu	37	17	9923301	9923301	+	Splice_Site	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:9923301C>A	ENST00000542249.1	-	1	158	c.18_splice	c.e1+1	p.R6_splice	GAS7_ENST00000579158.1_5'UTR|GAS7_ENST00000396115.1_Intron|GAS7_ENST00000432992.2_Intron|GAS7_ENST00000585266.1_Intron|GAS7_ENST00000323816.4_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Intron|GAS7_ENST00000578655.1_Intron			O60861	GAS7_HUMAN	growth arrest-specific 7	0	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						ATGAATTCACCCTACAGTAGC	0.507000			T	MLL	AML*								6	10					0.00116845	0.00122524	0.217242	1	0
ZNF615	284370	broad.mit.edu	37	19	52496450	52496450	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:52496450T>G	ENST00000602063.1	-	6	2228	c.1879A>C	c.(1879-1881)Aat>Cat	p.N627H	ZNF615_ENST00000598071.1_Missense_Mutation_p.N638H|ZNF615_ENST00000376716.5_Missense_Mutation_p.N627H|ZNF615_ENST00000594083.1_Missense_Mutation_p.N638H|ZNF615_ENST00000391795.3_Missense_Mutation_p.N632H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCACATTCATTGCATTTGTAT	0.388000													16	79					0	0	0.500413	0	0
COL4A2	1284	broad.mit.edu	37	13	111114638	111114638	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:111114638G>C	ENST00000360467.5	+	24	1989	c.1683G>C	c.(1681-1683)caG>caC	p.Q561H	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	561	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGCGGGGACAGCCCGGCGTCC	0.672000													15	75					0	0	0.592651	0	0
TCF7L2	6934	broad.mit.edu	37	10	114799814	114799814	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:114799814G>A	ENST00000355995.4	+	5	988	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	TCF7L2_ENST00000349937.2_Missense_Mutation_p.V161I|TCF7L2_ENST00000534894.1_Missense_Mutation_p.V161I|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000355717.4_Missense_Mutation_p.V138I|TCF7L2_ENST00000543371.1_Missense_Mutation_p.V161I|TCF7L2_ENST00000536810.1_Missense_Mutation_p.V161I|TCF7L2_ENST00000538897.1_Missense_Mutation_p.V161I|TCF7L2_ENST00000352065.5_Missense_Mutation_p.V138I|TCF7L2_ENST00000369395.1_Missense_Mutation_p.V138I|TCF7L2_ENST00000369397.4_Missense_Mutation_p.V138I|TCF7L2_ENST00000545257.1_Missense_Mutation_p.V161I			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	161					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACTGCTTGATGTCCAGGCAGG	0.488000			T	VTI1A	colorectal								27	26					0	0	0.769981	0	0
GUCA2B	2981	broad.mit.edu	37	1	42619208	42619208	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:42619208C>A	ENST00000372581.1	+	1	117	c.87C>A	c.(85-87)atC>atA	p.I29I		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	29					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGTCTACATCCAGGTGAGTC	0.652000													8	29					0.000157383	0.000169656	0.278610	1	0
VWF	7450	broad.mit.edu	37	12	6091124	6091124	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:6091124G>A	ENST00000261405.5	-	42	7369	c.7115C>T	c.(7114-7116)cCa>cTa	p.P2372L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2372					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAGGAGGGTGGGGACACTCT	0.587000													30	94					0	0	0.796494	0	0
RFPL1	5988	broad.mit.edu	37	22	29838094	29838094	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:29838094C>G	ENST00000354373.2	+	2	1146	c.937C>G	c.(937-939)Cct>Gct	p.P313A	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	313							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCCAGTCCATCCTGGGGAGGC	0.468000													18	72					0	0	0.575678	0	0
CDH6	1004	broad.mit.edu	37	5	31305506	31305506	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:31305506G>T	ENST00000265071.2	+	7	1490	c.1225G>T	c.(1225-1227)Gat>Tat	p.D409Y	CDH6_ENST00000514738.1_Missense_Mutation_p.D354Y	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	409	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACAGCCCAAGATCCAGATGC	0.438000													38	27					1.15505e-17	1.74011e-17	0.847076	1	0
SORCS3	22986	broad.mit.edu	37	10	106959772	106959772	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:106959772C>A	ENST00000369701.3	+	15	2252	c.2025C>A	c.(2023-2025)ttC>ttA	p.F675L	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	675						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTGGCCACTTCAGCCTCCGCT	0.493000													64	51					1.14856e-27	1.99348e-27	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179582285	179582285	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:179582285C>A	ENST00000589042.1	-	87	25540	c.25316G>T	c.(25315-25317)gGg>gTg	p.G8439V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7195V|TTN_ENST00000591111.1_Missense_Mutation_p.G8122V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8122	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGCAGTCCCAAGAGGATT	0.448000													12	22					3.27435e-08	3.88372e-08	0.457914	1	0
PODN	127435	broad.mit.edu	37	1	53547716	53547716	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:53547716G>T	ENST00000371500.3	+	12	2153	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H	PODN_ENST00000312553.5_Missense_Mutation_p.Q623H|PODN_ENST00000395871.2_Missense_Mutation_p.Q481H|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	575	Glu-rich.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCACCTGCAGGTCTTGGACA	0.572000													35	35					1.4659e-37	2.73014e-37	0.870114	1	0
KLHL22	84861	broad.mit.edu	37	22	20796526	20796526	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:20796526T>A	ENST00000328879.4	-	7	1895	c.1739A>T	c.(1738-1740)gAc>gTc	p.D580V	KLHL22_ENST00000440659.2_Missense_Mutation_p.D437V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	580					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GATGGAGTTGTCCAGCTGGGG	0.672000													5	21					0	0	0.217242	0	0
KCNK9	51305	broad.mit.edu	37	8	140630592	140630592	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:140630592C>A	ENST00000520439.1	-	2	1097	c.1034G>T	c.(1033-1035)aGc>aTc	p.S345I	KCNK9_ENST00000303015.1_Missense_Mutation_p.S345I			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	345						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TGGGAAGAGGCTGTTTTTTAA	0.532000													89	61					2.77303e-49	5.38423e-49	0.870114	1	0
BZRAP1	9256	broad.mit.edu	37	17	56386005	56386005	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:56386005T>C	ENST00000355701.3	-	22	5498	c.4628A>G	c.(4627-4629)aAt>aGt	p.N1543S	BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1543S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N1483S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1543						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGCCTGAATTGGCCTTCGG	0.677000													12	48					0	0	0.411799	0	0
MEP1A	4224	broad.mit.edu	37	6	46766354	46766354	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:46766354G>T	ENST00000230588.4	+	4	166	c.157G>T	c.(157-159)Gac>Tac	p.D53Y		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	53					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGCAGGCTTGGACCTCTTTCA	0.393000													39	46					1.23713e-20	1.95845e-20	0.870114	1	0
PVALB	5816	broad.mit.edu	37	22	37211187	37211187	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:37211187C>G	ENST00000216200.5	-	3	209	c.154G>C	c.(154-156)Gac>Cac	p.D52H	PVALB_ENST00000404171.1_Missense_Mutation_p.D20H|PVALB_ENST00000417718.2_Missense_Mutation_p.D52H	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	52	EF-hand 1.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TTGTCCTTGTCCAGCATGTGA	0.572000													7	44					0	0	0.278610	0	0
NXPE4	54827	broad.mit.edu	37	11	114442077	114442077	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:114442077C>A	ENST00000375478.3	-	6	1398	c.1218G>T	c.(1216-1218)atG>atT	p.M406I	NXPE4_ENST00000424261.2_Missense_Mutation_p.M122I	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		CTGAATAGGTCATTGATCCTA	0.423000													89	183					1.76565e-42	3.35851e-42	0.870114	1	0
CHURC1	91612	broad.mit.edu	37	14	65381189	65381189	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:65381189G>T	ENST00000607599.1	+	1	111	c.57G>T	c.(55-57)agG>agT	p.R19S	CHURC1_ENST00000549115.1_Missense_Mutation_p.R19S|CHURC1_ENST00000548752.2_Missense_Mutation_p.R19S|CHURC1_ENST00000552002.2_5'UTR|CHURC1_ENST00000359118.2_5'UTR	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		AGCGTTGGAGGACATTCCCTG	0.622000													33	117					2.87052e-16	4.21138e-16	0.812448	1	0
LRRC7	57554	broad.mit.edu	37	1	70486708	70486708	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:70486708A>T	ENST00000310961.5	+	17	1760	c.1342A>T	c.(1342-1344)Agc>Tgc	p.S448C	LRRC7_ENST00000035383.5_Missense_Mutation_p.S443C|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	443						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGACAGTGACAGCTTTAACCC	0.338000													10	41					0	0	0.387290	0	0
MGAM	8972	broad.mit.edu	37	7	141724853	141724853	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:141724853G>A	ENST00000475668.2	+	8	940	c.886G>A	c.(886-888)Gga>Aga	p.G296R	MGAM_ENST00000549489.2_Missense_Mutation_p.G296R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	296	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGCAGAACGGAACTAATTT	0.403000													10	54					0	0	0.387290	0	0
RTN1	6252	broad.mit.edu	37	14	60213001	60213001	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:60213001C>A	ENST00000267484.5	-	2	775	c.440G>T	c.(439-441)gGc>gTc	p.G147V		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	147					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TAAGGAGGGGCCGGGTGTACC	0.488000													12	38					1.5842e-08	1.89621e-08	0.435327	1	0
CYP2A13	1553	broad.mit.edu	37	19	41597773	41597773	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:41597773C>A	ENST00000330436.3	+	5	791	c.791C>A	c.(790-792)cCa>cAa	p.P264Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	264					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCCAATTCCCCACGGGACTTC	0.587000													12	64					0.000151284	0.000163441	0.435327	1	0
PGAM4	441531	broad.mit.edu	37	X	77225037	77225037	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:77225037C>T	ENST00000458128.1	-	1	98	c.99G>A	c.(97-99)gcG>gcA	p.A33A	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	33					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CCTCGTGGCCCGCCGGGCTCA	0.637000													51	39					0	0	0.870114	0	0
WDR52	55779	broad.mit.edu	37	3	113146176	113146176	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:113146176T>A	ENST00000393845.2	-	3	177	c.111A>T	c.(109-111)caA>caT	p.Q37H	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.Q37H	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	37										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGTTATCTTCTTGAACAGGAG	0.299000													14	16					0	0	0.457914	0	0
RLBP1	6017	broad.mit.edu	37	15	89760550	89760550	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:89760550C>T	ENST00000268125.5	-	5	586	c.147G>A	c.(145-147)aaG>aaA	p.K49K		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	49					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TCAGCTCATCCTTGGCCTAGA	0.632000													47	44					0	0	0.870114	0	0
FAM83D	81610	broad.mit.edu	37	20	37576528	37576528	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:37576528G>T	ENST00000217429.4	+	3	792	c.751G>T	c.(751-753)Gtt>Ttt	p.V251F		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	221					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GTTAATGACAGTTCGGACTAT	0.413000													56	128					4.67498e-28	8.17913e-28	0.870114	1	0
OR52D1	390066	broad.mit.edu	37	11	5510151	5510151	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:5510151C>T	ENST00000322641.5	+	1	237	c.215C>T	c.(214-216)aCa>aTa	p.T72I	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCACTCACAGACCTGGCT	0.517000													36	36					0	0	0.804634	0	0
COPZ1	22818	broad.mit.edu	37	12	54737029	54737029	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:54737029G>T	ENST00000262061.2	+	4	227	c.190G>T	c.(190-192)Ggc>Tgc	p.G64C	COPZ1_ENST00000416254.2_Intron|COPZ1_ENST00000549043.1_Missense_Mutation_p.G72C|COPZ1_ENST00000548753.1_5'UTR|COPZ1_ENST00000548281.1_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000551779.1_Missense_Mutation_p.G64C|COPZ1_ENST00000553231.1_Missense_Mutation_p.G41C|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000455864.2_Missense_Mutation_p.G41C|COPZ1_ENST00000552362.1_Missense_Mutation_p.G64C|COPZ1_ENST00000552218.1_Missense_Mutation_p.G64C	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	64					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						CCTCTTGGAAGGCCTGACAGT	0.448000													159	121					3.93154e-108	7.85907e-108	0.870114	1	0
GPR98	84059	broad.mit.edu	37	5	89949346	89949346	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:89949346C>G	ENST00000405460.2	+	20	4051	c.3955C>G	c.(3955-3957)Cgg>Ggg	p.R1319G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1319					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAGCACATGCGGCGTCACCA	0.458000													14	15					0	0	0.520397	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204428	125204428	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:125204428G>T	ENST00000431078.1	+	6	1196	c.832G>T	c.(832-834)Ggc>Tgc	p.G278C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	278	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAGCGGGTGGGCAAGCAGGT	0.597000													40	81					6.5261e-18	9.87721e-18	0.840704	1	0
OAS3	4940	broad.mit.edu	37	12	113407441	113407441	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:113407441A>T	ENST00000228928.7	+	15	3312	c.3133A>T	c.(3133-3135)Aca>Tca	p.T1045S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1045	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGCTGACCCGACAGGCAACCT	0.602000													14	6					0	0	0.575678	0	0
BIRC8	112401	broad.mit.edu	37	19	53793091	53793091	+	Silent	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:53793091C>A	ENST00000426466.1	-	1	1784	c.537G>T	c.(535-537)ccG>ccT	p.P179P		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	179					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		GACGCCTTAGCGGCTCTTCAG	0.423000													5	19					0.184627	0.185954	0.184627	1	0
DCHS2	54798	broad.mit.edu	37	4	155256229	155256229	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:155256229C>G	ENST00000357232.3	-	8	1006	c.1007G>C	c.(1006-1008)aGt>aCt	p.S336T	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.S835T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	336	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCCAAATGACTAAGAGGTAA	0.398000													14	54					0	0	0.520397	0	0
MUC3A	4584	broad.mit.edu	37	7	100549929	100549929	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:100549929C>T	ENST00000379458.4	+	2	510	c.510C>T	c.(508-510)gtC>gtT	p.170_170insV	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGACCACCGTCACCAGTACTT	0.547000													22	32					0	0	0.667858	0	0
RUFY3	22902	broad.mit.edu	37	4	71588305	71588305	+	Silent	SNP	G	G	T	rs139588067		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:71588305G>T	ENST00000226328.4	+	1	578	c.15G>T	c.(13-15)acG>acT	p.T5T	RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000381006.3_Silent_p.T5T	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	5					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CTGCTCTGACGCCTCCGACCG	0.502000													38	116					5.44703e-19	8.38629e-19	0.847076	1	0
SLC22A12	116085	broad.mit.edu	37	11	64368242	64368242	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:64368242G>A	ENST00000377574.1	+	9	2177	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	SLC22A12_ENST00000473690.1_Missense_Mutation_p.R256H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R443H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R369H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R369H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	477			R -> H (in RH).		cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						ATGGCAGCCCGTGGAGGAGCC	0.657000													30	59					0	0	0.729181	0	0
ZNF808	388558	broad.mit.edu	37	19	53056601	53056601	+	Silent	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:53056601C>T	ENST00000359798.4	+	5	612	c.432C>T	c.(430-432)caC>caT	p.H144H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AACATGATCACAGGCATGCTG	0.388000													30	79					0	0	0.827153	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106144712	106144712	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:106144712G>A	ENST00000276173.4	-	3	317	c.288C>T	c.(286-288)caC>caT	p.H96H	CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	96	Ripply homology domain.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						ACCTGACAGGGTGATGGAACT	0.498000													51	26					0	0	0.870114	0	0
YIPF1	54432	broad.mit.edu	37	1	54344344	54344344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:54344344G>A	ENST00000072644.1	-	5	583	c.247C>T	c.(247-249)Caa>Taa	p.Q83*	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Nonsense_Mutation_p.Q108*|YIPF1_ENST00000371399.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	83						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						AAGAATGTTTGGTAGTATTCA	0.358000													9	57					0	0	0.435327	0	0
OR14C36	127066	broad.mit.edu	37	1	248512087	248512087	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:248512087C>T	ENST00000317861.1	+	1	11	c.11C>T	c.(10-12)tCa>tTa	p.S4L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATGCCCAATTCAACCACCGTG	0.398000													16	46					0	0	0.575678	0	0
MARCH11	441061	broad.mit.edu	37	5	16067868	16067868	+	Silent	SNP	T	T	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:16067868T>C	ENST00000332432.8	-	4	1120	c.921A>G	c.(919-921)agA>agG	p.R307R		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	307						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GCTTAAACACTCTGTAAACTG	0.418000													20	12					0	0	0.667858	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704272	56704272	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:56704272G>A	ENST00000586855.2	-	2	463	c.150C>T	c.(148-150)ttC>ttT	p.F50F	ZSCAN5B_ENST00000358992.3_Silent_p.F50F			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	50	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGGGCAGCTGAACATCCTGA	0.572000													7	19					0	0	0.307466	0	0
NF1	4763	broad.mit.edu	37	17	29556148	29556148	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:29556148A>T	ENST00000358273.4	+	21	2898	c.2515A>T	c.(2515-2517)Aac>Tac	p.N839Y	NF1_ENST00000356175.3_Missense_Mutation_p.N839Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	839					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGAATGGATCAACATGACTGG	0.517000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	27					0	0	0.278610	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68688201	68688201	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:68688201G>T	ENST00000283916.6	-	10	1209	c.1111C>A	c.(1111-1113)Cca>Aca	p.P371T	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P254T|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	371	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGTACTAGTGGGCCACCAGAG	0.453000													50	50					9.53615e-21	1.51207e-20	0.870114	1	0
EPN1	29924	broad.mit.edu	37	19	56206234	56206234	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:56206234G>T	ENST00000411543.2	+	10	2212	c.1665G>T	c.(1663-1665)aaG>aaT	p.K555N	EPN1_ENST00000085079.7_Missense_Mutation_p.K443N|EPN1_ENST00000270460.6_Missense_Mutation_p.K469N	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	469	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCACCCGGAAGACGCCGGAGT	0.701000													3	15					2.0095e-06	2.28014e-06	0.248553	1	0
SALL3	27164	broad.mit.edu	37	18	76753541	76753541	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr18:76753541C>A	ENST00000536229.3	+	1	1860	c.1151C>A	c.(1150-1152)cCc>cAc	p.P384H	SALL3_ENST00000537592.2_Missense_Mutation_p.P517H|SALL3_ENST00000575389.2_Missense_Mutation_p.P517H			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GACAGCAAGCCCGTGCTGCCC	0.716000													14	9					1.3612e-06	1.54901e-06	0.479597	1	0
DPY19L1	23333	broad.mit.edu	37	7	34979784	34979784	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:34979784G>A	ENST00000310974.4	-	19	1770	c.1626C>T	c.(1624-1626)atC>atT	p.I542I		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	542						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TACTATATTTGATCCATTCTA	0.323000													5	10					0	0	0.184627	0	0
RFPL1S	10740	broad.mit.edu	37	22	29833713	29833713	+	RNA	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr22:29833713A>G	ENST00000461286.2	-	0	4663					NR_002727.2																						AGCTTCCAGCAGAAGAGGTGA	0.522000													18	15					0	0	0.639603	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935923	82935923	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:82935923C>A	ENST00000260047.6	+	6	1405	c.610C>A	c.(610-612)Ctt>Att	p.L204I	ANKRD42_ENST00000531895.1_Missense_Mutation_p.L205I|ANKRD42_ENST00000533342.1_Missense_Mutation_p.L205I|ANKRD42_ENST00000393392.2_Missense_Mutation_p.L177I			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	177										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAAGGCCACCTTCACTGTTT	0.328000													29	75					8.4185e-14	1.16788e-13	0.760397	1	0
TTI1	9675	broad.mit.edu	37	20	36634691	36634691	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:36634691G>A	ENST00000373448.2	-	4	2649	c.2411C>T	c.(2410-2412)aCc>aTc	p.T804I	TTI1_ENST00000449821.1_Missense_Mutation_p.T804I|TTI1_ENST00000373447.3_Missense_Mutation_p.T804I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	804							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTCAGCTGTGGTGGTGCTCTT	0.448000													71	102					0	0	0.870114	0	0
ZNF287	57336	broad.mit.edu	37	17	16456263	16456263	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:16456263C>A	ENST00000395824.1	-	6	1810	c.1193G>T	c.(1192-1194)tGt>tTt	p.C398F	ZNF287_ENST00000395825.3_Missense_Mutation_p.C398F			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	391					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACATTCTTCACATTCATACGA	0.408000													59	70					3.78398e-24	6.32705e-24	0.870114	1	0
TNN	63923	broad.mit.edu	37	1	175087839	175087839	+	Silent	SNP	G	G	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:175087839G>A	ENST00000239462.4	+	11	2642	c.2529G>A	c.(2527-2529)gtG>gtA	p.V843V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	843	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGTTCCAGTGGGGAAGGAGC	0.617000													34	74					0	0	0.840704	0	0
ALK	238	broad.mit.edu	37	2	29416646	29416646	+	Missense_Mutation	SNP	C	C	T	rs138827116	by1000genomes	TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:29416646C>T	ENST00000389048.3	-	29	5213	c.4307G>A	c.(4306-4308)cGc>cAc	p.R1436H	ALK_ENST00000431873.1_Missense_Mutation_p.R266H	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1436					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGCTGGGCTGCGCTCCTCCTC	0.607000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				30	96					0	0	0.779181	0	0
TCF23	150921	broad.mit.edu	37	2	27373191	27373191	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:27373191G>T	ENST00000296096.5	+	2	553	c.423G>T	c.(421-423)tgG>tgT	p.W141C		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	141					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTGCCTGGCCGCCCTTCC	0.627000													128	194					3.07355e-68	6.10666e-68	0.870114	1	0
TMEM108	66000	broad.mit.edu	37	3	133099589	133099589	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:133099589C>A	ENST00000515826.1	+	3	1157	c.1034C>A	c.(1033-1035)cCt>cAt	p.P345H	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.P345H|TMEM108_ENST00000393130.3_Missense_Mutation_p.P345H			Q6UXF1	TM108_HUMAN	transmembrane protein 108	345						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACCAGCAGACCTCTGTCTACC	0.642000													22	72					3.7963e-18	5.77238e-18	0.654019	1	0
COX7A2L	9167	broad.mit.edu	37	2	42588300	42588300	+	Translation_Start_Site	SNP	A	A	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:42588300A>G	ENST00000378669.1	-	2	831	c.2T>C	c.(1-3)aTg>aCg	p.M1T	COX7A2L_ENST00000463055.1_Start_Codon_SNP_p.M1T|COX7A2L_ENST00000234301.2_Start_Codon_SNP_p.M1T			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	1					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						CTTGTAGTACATGACGCCCAG	0.647000													5	23					0	0	0.184627	0	0
ZNF773	374928	broad.mit.edu	37	19	58018610	58018610	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:58018610G>C	ENST00000282292.4	+	4	1287	c.1147G>C	c.(1147-1149)Gga>Cga	p.G383R	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.G382R|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AGTTCACACTGGAGAAAAACC	0.423000													31	92					0	0	0.812448	0	0
APLP2	334	broad.mit.edu	37	11	129993651	129993651	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:129993651G>C	ENST00000263574.5	+	7	1139	c.1067G>C	c.(1066-1068)tGt>tCt	p.C356S	APLP2_ENST00000539648.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000543137.1_Missense_Mutation_p.C263S|APLP2_ENST00000338167.5_Missense_Mutation_p.C356S|APLP2_ENST00000278756.7_Missense_Mutation_p.C366S|APLP2_ENST00000528499.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	356	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAGGATTATTGTATGGCTGTG	0.562000													16	172					0	0	0.639603	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063031	48063031	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:48063031G>T	ENST00000316364.5	+	19	2710	c.2271G>T	c.(2269-2271)atG>atT	p.M757I	SEMA6D_ENST00000536845.2_Missense_Mutation_p.M757I|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.M738I|SEMA6D_ENST00000537942.1_Missense_Mutation_p.M695I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.M695I|SEMA6D_ENST00000354744.4_Missense_Mutation_p.M701I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.M714I|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.M695I|SEMA6D_ENST00000389428.3_Missense_Mutation_p.M682I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	757					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTAAATCCATGGTAATGGACC	0.488000													39	35					7.88023e-25	1.33698e-24	0.870114	1	0
SLC39A12	221074	broad.mit.edu	37	10	18331721	18331721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:18331721C>A	ENST00000377369.2	+	13	2308	c.2035C>A	c.(2035-2037)Ctc>Atc	p.L679I	SLC39A12_ENST00000377371.3_Missense_Mutation_p.L678I|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L545I|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L642I	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	679	Poly-Leu.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTGGCTTTCTCTCCTGCTCTT	0.338000													13	37					5.50884e-06	6.17229e-06	0.411799	1	0
TXLNA	200081	broad.mit.edu	37	1	32650175	32650176	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:32650175_32650176insT	ENST00000373609.1	+	3	836_837	c.555_556insT	c.(553-558)ccaggafs	p.G186fs	TXLNA_ENST00000373610.3_Frame_Shift_Ins_p.G186fs			P40222	TXLNA_HUMAN	taxilin alpha	186					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGTACCCCAGAGGAGAAGCT	0.554													81	124	---	---	---	---					
C1orf94	84970	broad.mit.edu	37	1	34677945	34677945	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:34677945delC	ENST00000488417.1	+	6	1779	c.1659delC	c.(1657-1659)aafs	p.N553fs	C1orf94_ENST00000373374.3_Frame_Shift_Del_p.N363fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	363							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTCTGCCAACCCCCGAGACC	0.557													20	74	---	---	---	---					
C1orf216	127703	broad.mit.edu	37	1	36181533	36181533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:36181533delG	ENST00000270815.4	-	2	1160	c.390delC	c.(388-390)gcfs	p.A130fs		NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	130										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGGTCCCACAGGCAGGCTCAG	0.637											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	138	---	---	---	---					
PTGER3	5733	broad.mit.edu	37	1	71513118	71513118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:71513118delC	ENST00000370924.4	-	1	373	c.143delG	c.(142-144)gafs	p.G48fs	PTGER3_ENST00000356595.4_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000370931.3_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000414819.1_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000460330.1_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000351052.5_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000354608.5_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000306666.5_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000370932.2_Frame_Shift_Del_p.G48fs	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	48					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGACACCGATCCGCAATCCTC	0.687													14	22	---	---	---	---					
SMG5	23381	broad.mit.edu	37	1	156230260	156230260	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:156230260delC	ENST00000361813.5	-	15	2409	c.2265delG	c.(2263-2265)ctfs	p.L756fs	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	756					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGGTGCTGAGCAGGGGCCGAT	0.557													43	194	---	---	---	---					
IQGAP3	128239	broad.mit.edu	37	1	156524106	156524106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:156524106delG	ENST00000361170.2	-	13	1379	c.1369delC	c.(1369-1371)ggfs	p.R457fs		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	457					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGGCATCCCGGGCCTCCAGG	0.617													39	56	---	---	---	---					
INSRR	3645	broad.mit.edu	37	1	156812206	156812206	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:156812206delA	ENST00000368195.3	-	18	3617	c.3221delT	c.(3220-3222)tgfs	p.L1074fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1074	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCAGGCCGCAAAGATCGAAG	0.597													34	165	---	---	---	---					
FCRL5	83416	broad.mit.edu	37	1	157494145	157494146	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:157494145_157494146insT	ENST00000361835.3	-	10	2319_2320	c.2162_2163insA	c.(2161-2163)ctcfs	p.L721fs	FCRL5_ENST00000356953.4_Frame_Shift_Ins_p.L721fs|FCRL5_ENST00000368191.3_Frame_Shift_Ins_p.L636fs|FCRL5_ENST00000368190.3_Frame_Shift_Ins_p.L721fs	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	721	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGATTCCAGAATGTTCTGTAGT	0.545													26	107	---	---	---	---					
PROX1-AS1	100505832	broad.mit.edu	37	1	214090692	214090694	+	RNA	DEL	TCC	TCC	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:214090692_214090694delTCC	ENST00000433082.2	-	0	195				PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000601744.1_RNA																							ctccttctgttcctcctcctcct	0.488													4	2	---	---	---	---					
PROX1	5629	broad.mit.edu	37	1	214184965	214184966	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:214184965_214184966insG	ENST00000366958.4	+	4	2543_2544	c.1935_1936insG	c.(1933-1938)gagggtfs	p.EG645fs	PROX1_ENST00000261454.4_Frame_Shift_Ins_p.EG645fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.EG645fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.EG645fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	645	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCATCAACGATGGGGTCACCAG	0.446													25	104	---	---	---	---					
ITPKB	3707	broad.mit.edu	37	1	226827305	226827305	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:226827305delC	ENST00000429204.1	-	6	2833	c.2506delG	c.(2506-2508)tcfs	p.V836fs	ITPKB_ENST00000272117.3_Frame_Shift_Del_p.V836fs	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	836							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCTCGGTGACCTGCTCCCTC	0.572													32	67	---	---	---	---					
SNAP47	116841	broad.mit.edu	37	1	227946760	227946760	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:227946760delC	ENST00000366759.4	+	3	1111	c.697delC	c.(697-699)cgfs	p.P233fs	SNAP47_ENST00000315781.5_Frame_Shift_Del_p.P233fs|SNAP47_ENST00000366760.1_5'UTR	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	233						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GAAGACACCACCGGAAACAAA	0.453													21	101	---	---	---	---					
OR14I1	401994	broad.mit.edu	37	1	248845548	248845548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr1:248845548delC	ENST00000342623.3	-	1	81	c.58delG	c.(58-60)agfs	p.E20fs		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ACCTGCAGCTCCCAGATACCA	0.473													13	61	---	---	---	---					
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	RNA	INS	-	-	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708													4	5	---	---	---	---					
ALK	238	broad.mit.edu	37	2	29432714	29432714	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:29432714delG	ENST00000389048.3	-	25	4680	c.3774delC	c.(3772-3774)acfs	p.T1258fs	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1258	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGCCTGGACAGGTCAAGAGGC	0.522			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				10	76	---	---	---	---					
EHD3	30845	broad.mit.edu	37	2	31467293	31467294	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:31467293_31467294insT	ENST00000322054.5	+	2	666_667	c.381_382insT	c.(379-384)gcttggfs	p.W128fs	EHD3_ENST00000541626.1_Frame_Shift_Ins_p.W128fs	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	128					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AACTCAACGCCTTTGGCAACGC	0.530													33	48	---	---	---	---					
EHD3	30845	broad.mit.edu	37	2	31489134	31489134	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:31489134delC	ENST00000322054.5	+	6	1457	c.1172delC	c.(1171-1173)gcfs	p.A391fs	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	391					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CATGACATTGCCCAGCTCATG	0.622													14	76	---	---	---	---					
CYP1B1	1545	broad.mit.edu	37	2	38301813	38301814	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:38301813_38301814insG	ENST00000260630.3	-	2	1119_1120	c.718_719insC	c.(718-720)ggtfs	p.G240fs	CYP1B1_ENST00000407341.1_Frame_Shift_Ins_p.G240fs|CYP1B1_ENST00000494864.1_Intron	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	240					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	CACGTCCACCAGGCTGCCCGCG	0.634													31	42	---	---	---	---					
REG1P	5969	broad.mit.edu	37	2	79363119	79363119	+	RNA	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:79363119delG	ENST00000444841.1	-	0	1219																											TAGCACAGTAGGCAGTATTGG	0.527													12	17	---	---	---	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cag>ca	p.QTG371del	PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	371						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													3	5	---	---	---	---					
SSFA2	6744	broad.mit.edu	37	2	182760755	182760755	+	Splice_Site	DEL	A	A	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:182760755delA	ENST00000431877.2	+	3	436		c.e3-1		SSFA2_ENST00000409001.1_Splice_Site|SSFA2_ENST00000320370.7_Splice_Site|SSFA2_ENST00000428267.2_Intron	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2							cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATATGGTTTCAGTACACCTTT	0.383													34	173	---	---	---	---					
MAP2	4133	broad.mit.edu	37	2	210560409	210560409	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:210560409delA	ENST00000360351.4	+	7	4021	c.3515delA	c.(3514-3516)gafs	p.E1172fs	MAP2_ENST00000447185.1_Frame_Shift_Del_p.E1168fs|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1172					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTGTCAGTGGAAATACCTTGC	0.443													36	58	---	---	---	---					
VIL1	7429	broad.mit.edu	37	2	219294009	219294010	+	Splice_Site	INS	-	-	CAT			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr2:219294009_219294010insCAT	ENST00000248444.5	+	7	657_658	c.567_splice	c.e7-1	p.D190_splice	VIL1_ENST00000440053.1_Splice_Site_p.D190_splice|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	190	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCTGCAGGGCATGACTCTGG	0.624													19	135	---	---	---	---					
POMGNT2	84892	broad.mit.edu	37	3	43122561	43122563	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:43122561_43122563delGGT	ENST00000344697.2	-	2	706_708	c.361_363delACC	c.(361-363)del	p.T121del	GTDC2_ENST00000441964.1_In_Frame_Del_p.T121del	NM_032806.4	NP_116195.2																					GGTCCTCCACGGTGGATAGGTCG	0.611													72	58	---	---	---	---					
CCDC54	84692	broad.mit.edu	37	3	107096908	107096908	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr3:107096908delG	ENST00000261058.1	+	1	721	c.474delG	c.(472-474)ctfs	p.L158fs		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	158										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TAGAGATTCTGGAGGGAGAAA	0.403													52	126	---	---	---	---					
DHX15	1665	broad.mit.edu	37	4	24531262	24531263	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:24531262_24531263insT	ENST00000336812.4	-	13	2387_2388	c.2231_2232insA	c.(2230-2232)aaafs	p.K744fs	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	744					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GGATGTAATTCTTTGTTGTTAG	0.376													24	133	---	---	---	---					
TLR6	10333	broad.mit.edu	37	4	38830942	38830942	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:38830942delC	ENST00000436693.2	-	2	272	c.153delG	c.(151-153)ccfs	p.P51fs	TLR6_ENST00000381950.1_Frame_Shift_Del_p.P51fs	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	51					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGTTTTCAGCGGTAGGTCTT	0.408													9	95	---	---	---	---					
ANKRD17	26057	broad.mit.edu	37	4	74007483	74007483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr4:74007483delG	ENST00000358602.4	-	14	2423	c.2307delC	c.(2305-2307)gcfs	p.A769fs	ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.A769fs|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.A656fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	769					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGAGTGGTGGCAACATTGG	0.433													49	74	---	---	---	---					
PCDHGA5	56110	broad.mit.edu	37	5	140745845	140745845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr5:140745845delG	ENST00000518069.1	+	1	1948	c.1948delG	c.(1948-1950)gcfs	p.G650fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAGACCATGGCCAGCCCCC	0.647													124	72	---	---	---	---					
ZNRD1	30834	broad.mit.edu	37	6	30030076	30030076	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:30030076delG	ENST00000332435.5	+	3	593	c.322delG	c.(322-324)ggfs	p.G108fs	ZNRD1_ENST00000376785.2_Frame_Shift_Del_p.G108fs|ZNRD1_ENST00000359374.4_Frame_Shift_Del_p.G108fs|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1_ENST00000376782.2_Frame_Shift_Del_p.G108fs	NM_170783.2	NP_740753.1	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	108						nucleolus	DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding										AGCCGATGAAGGGCAAACTGT	0.488													15	117	---	---	---	---					
ABCF1	23	broad.mit.edu	37	6	30551459	30551459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:30551459delC	ENST00000326195.8	+	11	1102	c.990delC	c.(988-990)cgfs	p.R331fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Del_p.R293fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	331	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TAGCCGGCCGCCGCTACGGGC	0.567													101	118	---	---	---	---					
SMARCE1P2	442233	broad.mit.edu	37	6	85140211	85140211	+	RNA	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:85140211delC	ENST00000454981.1	-	0	289																											GATCTTGCCACATGCCAGCAA	0.418													10	10	---	---	---	---					
DCBLD1	285761	broad.mit.edu	37	6	117825069	117825069	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:117825069delG	ENST00000338728.5	+	2	372	c.252delG	c.(250-252)ttfs	p.L84fs	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Frame_Shift_Del_p.L84fs|DCBLD1_ENST00000296955.8_Frame_Shift_Del_p.L84fs			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	84	CUB.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TTCTGAGGTTGGGAGATTTGG	0.428													69	63	---	---	---	---					
ENPP1	5167	broad.mit.edu	37	6	132194180	132194181	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr6:132194180_132194181insG	ENST00000360971.2	+	15	1575_1576	c.1555_1556insG	c.(1555-1557)actfs	p.T519fs		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	519	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCCTCAGTGGCAACTTGCATTG	0.416													171	186	---	---	---	---					
FIGNL1	63979	broad.mit.edu	37	7	50513283	50513283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:50513283delG	ENST00000419119.1	-	2	3256	c.1703delC	c.(1702-1704)cafs	p.P568fs	FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.P568fs|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.P568fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.P568fs			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	568					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGAAGCTTCTGGGAGGGGAAT	0.438													16	117	---	---	---	---					
CYP3A7	1551	broad.mit.edu	37	7	99305458	99305460	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:99305458_99305460delAGG	ENST00000336374.2	-	12	1393_1395	c.1391_1393delCCT	c.(1390-1395)ttc>t	p.SF464del		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	464					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAAGGTTTGAAGGAGAAGTTCTG	0.345													20	178	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142478914	142478915	+	RNA	INS	-	-	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:142478914_142478915insT	ENST00000603901.1	+	0	40					NR_001296.3																						CCCCAACCACCCCCCGTTACTG	0.540													22	17	---	---	---	---					
EPHA1	2041	broad.mit.edu	37	7	143095772	143095772	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:143095772delC	ENST00000275815.3	-	6	1344	c.1258delG	c.(1258-1260)aafs	p.E420fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	420	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTTTGGGCTTCCACATTAAAG	0.612													76	118	---	---	---	---					
ZNF746	155061	broad.mit.edu	37	7	149191375	149191375	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr7:149191375delC	ENST00000461958.2	-	2	440	c.244delG	c.(244-246)agfs	p.E82fs	ZNF746_ENST00000458143.2_Frame_Shift_Del_p.E82fs|ZNF746_ENST00000340622.3_Frame_Shift_Del_p.E82fs			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	82					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCCACGTTCTCCAGCCGCCTC	0.662													74	242	---	---	---	---					
PXDNL	137902	broad.mit.edu	37	8	52359646	52359647	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:52359646_52359647insT	ENST00000356297.4	-	12	1542_1543	c.1442_1443insA	c.(1441-1443)cgafs	p.R481fs	PXDNL_ENST00000543296.1_Frame_Shift_Ins_p.R481fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	481	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGCCTTGATCGTGCTGTGCTGC	0.465													166	230	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113569060	113569060	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr8:113569060delC	ENST00000297405.5	-	25	4410	c.4166delG	c.(4165-4167)gafs	p.G1389fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.G1389fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.G1349fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.G1285fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1389	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGGCTACTTCCGTGGAGAGT	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	184	---	---	---	---					
GAD2	2572	broad.mit.edu	37	10	26512868	26512870	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:26512868_26512870delAGC	ENST00000376261.3	+	5	1076_1078	c.573_575delAGC	c.(571-576)tta>tt	p.LA191del	GAD2_ENST00000259271.3_In_Frame_Del_p.LA191del|GAD2_ENST00000376248.1_In_Frame_Del_p.LA77del	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	191					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGGTTGGATTAGCAGCAGACTGG	0.350													26	86	---	---	---	---					
CNNM1	26507	broad.mit.edu	37	10	101090072	101090072	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr10:101090072delG	ENST00000356713.4	+	1	1217	c.928delG	c.(928-930)ggfs	p.G311fs	CNNM1_ENST00000370528.3_Frame_Shift_Del_p.G240fs|CNNM1_ENST00000446890.1_Frame_Shift_Del_p.G240fs|CNNM1_ENST00000370534.4_5'UTR	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	311	DUF21.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GCCGGGCTTCGGGGGCACCGG	0.706													5	10	---	---	---	---					
MUC5B	727897	broad.mit.edu	37	11	1254379	1254379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:1254379delC	ENST00000447027.1	+	18	2269	c.2211delC	c.(2209-2211)tgfs	p.C737fs	MUC5B_ENST00000529681.1_Frame_Shift_Del_p.C734fs			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	734	TIL 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCTGCACCTGCCCCGCGGGCA	0.697													8	10	---	---	---	---					
OR5D16	390144	broad.mit.edu	37	11	55606523	55606524	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:55606523_55606524insT	ENST00000378396.1	+	1	296_297	c.296_297insT	c.(295-297)tttfs	p.F99fs		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTCTCAGGATGTTTGGTGCAAT	0.426													205	292	---	---	---	---					
SLC22A9	114571	broad.mit.edu	37	11	63137664	63137664	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:63137664delG	ENST00000279178.3	+	1	385	c.136delG	c.(136-138)gcfs	p.G46fs	SLC22A9_ENST00000310969.4_Frame_Shift_Del_p.G46fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	46					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATTCATACCTGGCCATCGCTG	0.483													70	251	---	---	---	---					
FIBP	9158	broad.mit.edu	37	11	65653836	65653836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:65653836delC	ENST00000338369.2	-	4	581	c.469delG	c.(469-471)acfs	p.D157fs	FIBP_ENST00000357519.4_Frame_Shift_Del_p.D157fs|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000533045.1_Frame_Shift_Del_p.D154fs	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	157					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGAATATTGTCCACCAGGGAG	0.562													68	149	---	---	---	---					
OR6M1	390261	broad.mit.edu	37	11	123676749	123676749	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr11:123676749delG	ENST00000309154.2	-	1	346	c.309delC	c.(307-309)ttfs	p.F104fs		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCCCCAGAAAGAAGTAGAAAT	0.473													15	42	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400510	78400510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr12:78400510delC	ENST00000397909.2	+	8	1365	c.1192delC	c.(1192-1194)gcfs	p.R398fs	NAV3_ENST00000536525.2_Frame_Shift_Del_p.R398fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.R398fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.R398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACTGCTTTACGCCCCCCGCA	0.502										HNSCC(70;0.22)			89	65	---	---	---	---					
PDS5B	23047	broad.mit.edu	37	13	33226115	33226115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:33226115delG	ENST00000315596.10	+	3	469	c.283delG	c.(283-285)ctfs	p.A95fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	95					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TGCTCCTGAAGCTCCTTACAC	0.373													85	87	---	---	---	---					
RCBTB2	1102	broad.mit.edu	37	13	49076876	49076876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:49076876delC	ENST00000344532.3	-	11	1524	c.1101delG	c.(1099-1101)tgfs	p.W367fs	RCBTB2_ENST00000544492.1_Frame_Shift_Del_p.W93fs|RCBTB2_ENST00000430805.2_Frame_Shift_Del_p.W372fs	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	367							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AGAGGAGGCGCCACGTGACGG	0.587													45	55	---	---	---	---					
OLFM4	10562	broad.mit.edu	37	13	53624864	53624864	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr13:53624864delC	ENST00000219022.2	+	5	1569	c.1491delC	c.(1489-1491)tafs	p.Y497fs		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	497	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACGATGGTTACCTTCTGAATT	0.373													27	55	---	---	---	---					
IRF9	10379	broad.mit.edu	37	14	24635347	24635347	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:24635347delC	ENST00000396864.3	+	9	1411	c.1124delC	c.(1123-1125)gcfs	p.A375fs	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Frame_Shift_Del_p.C315fs	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	375					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CAGGCCTTTGCCCGATACTTG	0.577													17	51	---	---	---	---					
KIAA0586	9786	broad.mit.edu	37	14	58924516	58924516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:58924516delC	ENST00000423743.3	+	12	1528	c.1270delC	c.(1270-1272)cafs	p.P424fs	KIAA0586_ENST00000261244.5_Frame_Shift_Del_p.P468fs|KIAA0586_ENST00000556134.1_Frame_Shift_Del_p.P453fs|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Frame_Shift_Del_p.P521fs	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	455										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCAGATCTTCCACAGAATTC	0.318													7	30	---	---	---	---					
AREL1	9870	broad.mit.edu	37	14	75142625	75142625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr14:75142625delC	ENST00000356357.4	-	8	1372	c.857delG	c.(856-858)ccfs	p.R286fs	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		GGACACATTGCGTTCGACGAT	0.413													101	218	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28356956	28356956	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:28356956delC	ENST00000261609.7	-	93	14566	c.14458delG	c.(14458-14460)acfs	p.D4820fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4820					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAAAGGAGTCGACATCCTCG	0.532													43	57	---	---	---	---					
OR4F15	390649	broad.mit.edu	37	15	102358651	102358651	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr15:102358651delA	ENST00000332238.4	+	1	286	c.262delA	c.(262-264)agfs	p.K88fs		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATTTTCAAGAAGCACAAGGC	0.458													37	50	---	---	---	---					
NECAB2	54550	broad.mit.edu	37	16	84034361	84034361	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr16:84034361delC	ENST00000565691.1	+	9	1468	c.746delC	c.(745-747)acfs	p.T249fs	NECAB2_ENST00000305202.4_Frame_Shift_Del_p.T332fs			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	332					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						GATGGCTTCACCTTTGTCATC	0.602													30	64	---	---	---	---					
HES7	84667	broad.mit.edu	37	17	8025230	8025230	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:8025230delC	ENST00000541682.2	-	4	351	c.352delG	c.(352-354)ccfs	p.A119fs	HES7_ENST00000317814.4_Frame_Shift_Del_p.A114fs	NM_001165967.1|NM_032580.3	NP_001159439.1|NP_115969.2	Q9BYE0	HES7_HUMAN	hes family bHLH transcription factor 7	114	Orange.				mesoderm development|transcription, DNA-dependent	nucleus	DNA binding										GCGCGGGCGGCCGGGCTGGCG	0.731													9	14	---	---	---	---					
SLFN11	91607	broad.mit.edu	37	17	33680024	33680024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:33680024delC	ENST00000394566.1	-	7	2329	c.2057delG	c.(2056-2058)acfs	p.S686fs	SLFN11_ENST00000308377.4_Frame_Shift_Del_p.S686fs	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	686						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGAGTGATGCTTTTTGCCTT	0.473													63	350	---	---	---	---					
ADAM11	4185	broad.mit.edu	37	17	42847411	42847411	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:42847411delA	ENST00000200557.6	+	4	545	c.376delA	c.(376-378)gcfs	p.S126fs	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	126					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AACCCAGCACAGCACCGTGAG	0.662													27	59	---	---	---	---					
AANAT	15	broad.mit.edu	37	17	74464942	74464942	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr17:74464942delC	ENST00000250615.3	+	5	1256	c.249delC	c.(247-249)cgfs	p.R83fs	AANAT_ENST00000392492.3_Frame_Shift_Del_p.R38fs	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	38	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						GTGAGTTTCGCTGCCTCACCC	0.652													51	45	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	15990474	15990474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:15990474delA	ENST00000221700.5	-	11	1349	c.1254delT	c.(1252-1254)atfs	p.I419fs	CYP4F2_ENST00000592328.1_Frame_Shift_Del_p.I419fs	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	419					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAGGCAGATAATGCCTGTGG	0.597													68	142	---	---	---	---					
ZNF208	7757	broad.mit.edu	37	19	22155556	22155556	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:22155556delC	ENST00000397126.4	-	4	2428	c.2280delG	c.(2278-2280)tgfs	p.W760fs	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTGAGGACCACTTATAGG	0.363													11	34	---	---	---	---					
ZNF99	7652	broad.mit.edu	37	19	22939406	22939406	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:22939406delC	ENST00000397104.3	-	7	2764	c.2765delG	c.(2764-2766)gcfs	p.G922fs						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAAGCTTTGCCACATTCTTC	0.363													12	38	---	---	---	---					
PEG3	5178	broad.mit.edu	37	19	57328918	57328919	+	Frame_Shift_Ins	INS	-	-	T	rs143368073		TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr19:57328918_57328919insT	ENST00000326441.9	-	10	1254_1255	c.891_892insA	c.(889-894)aacaacfs	p.NN297fs	PEG3_ENST00000593695.1_Frame_Shift_Ins_p.NN171fs|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Ins_p.NN297fs|PEG3_ENST00000598410.1_Frame_Shift_Ins_p.NN173fs|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	297					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGGTGGGTTGATTTTTTGGCTT	0.470													23	89	---	---	---	---					
SLC17A9	63910	broad.mit.edu	37	20	61588855	61588855	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chr20:61588855delC	ENST00000370349.3	+	4	506	c.302delC	c.(301-303)acfs	p.T101fs	SLC17A9_ENST00000370351.4_Frame_Shift_Del_p.T107fs|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	107					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACGGCCGTCACCCCACTGCTC	0.632													31	66	---	---	---	---					
MIR508	574513	broad.mit.edu	37	X	146318464	146318464	+	RNA	DEL	C	C	-			TCGA-55-7994-01A-11D-2184-08	TCGA-55-7994-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8b463c-8851-4b3b-bc57-327ea12d82d8	cad56139-9883-4b4e-9b47-0ddf79030293	g.chrX:146318464delC	ENST00000384857.1	-	0	81					NR_030235.1																						GTGTATTACTCTACTCCAAAA	0.493													20	11	---	---	---	---					
