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
LYSMD3	116068	broad.mit.edu	37	5	89815177	89815177	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:89815177C>A	ENST00000315948.6	-	3	524	c.380G>T	c.(379-381)aGa>aTa	p.R127I	LYSMD3_ENST00000509384.1_Missense_Mutation_p.K107N|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	127					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TGAAGTCTGTCTTCCTTTTGG	0.393000													32	89					9.65021e-13	1.37919e-12	1	1	0
NBPF9	400818	broad.mit.edu	37	1	144828562	144828562	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:144828562A>T	ENST00000338347.4	+	14	1608	c.1608A>T	c.(1606-1608)gaA>gaT	p.E536D	NBPF9_ENST00000281815.8_Missense_Mutation_p.E134D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR					neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TGCTGATGGAAGTGGAAGAGC	0.468000													86	368					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113513880	113513880	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:113513880C>A	ENST00000541405.1	-	4	1096	c.573G>T	c.(571-573)aaG>aaT	p.K191N	CKAP2L_ENST00000302450.6_Missense_Mutation_p.K356N			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	356						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGGCTGGACTTCTGATCTT	0.423000													76	165					1.37693e-34	2.49195e-34	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109381702	109381702	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:109381702G>T	ENST00000283195.6	+	20	4833	c.4707G>T	c.(4705-4707)ccG>ccT	p.P1569P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1569					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTCAGAATCCGGATAAACCAA	0.438000													66	208					3.86002e-21	6.49185e-21	1	1	0
HSP90AA1	3320	broad.mit.edu	37	14	102548483	102548483	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:102548483G>C	ENST00000334701.7	-	11	2701	c.2420C>G	c.(2419-2421)gCt>gGt	p.A807G	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.A685G	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	685					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GATCCTGTTAGCATGTGTCTG	0.413000													22	65					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606469	55606469	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:55606469C>A	ENST00000378396.1	+	1	242	c.242C>A	c.(241-243)cCc>cAc	p.P81H		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	81					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)				ATCATTGCTCCCATGATGCTG	0.388000													98	271					3.17147e-52	5.93315e-52	1	1	0
NOC2L	26155	broad.mit.edu	37	1	881035	881035	+	Splice_Site	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:881035T>A	ENST00000327044.6	-	17	1967		c.e17-2			NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)							nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GTCTTCCAGCTGGAAGGCCAA	0.587000													17	74					0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41341004	41341004	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr13:41341004C>A	ENST00000323563.6	-	2	354	c.318G>T	c.(316-318)atG>atT	p.M106I		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	106						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		ATTCAACTTTCATGCCCTTAA	0.413000													28	110					4.87955e-14	7.12672e-14	1	1	0
FOLR3	2352	broad.mit.edu	37	11	71850846	71850846	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:71850846G>T	ENST00000445078.2	+	5	900	c.829G>T	c.(829-831)Gcc>Tcc	p.A277S	FOLR3_ENST00000456237.1_Missense_Mutation_p.A279S|FOLR3_ENST00000442948.2_Missense_Mutation_p.A236S			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	235					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GAATGCTGGGGCCCCGTCTCG	0.537000													10	38					1.76689e-08	2.10887e-08	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25420075	25420075	+	RNA	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:25420075G>T	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							CCCTGGGTTGGGTCAATGATG	0.512000													100	368					6.23493e-48	1.15991e-47	1	1	0
ZNF248	57209	broad.mit.edu	37	10	38121333	38121333	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:38121333C>A	ENST00000395867.3	-	6	1500	c.950G>T	c.(949-951)gGa>gTa	p.G317V	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.G317V|ZNF248_ENST00000494133.1_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	317					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						TGTGTAAGCTCCCTGATGGAT	0.383000													13	138					4.93089e-13	7.10817e-13	1	1	0
CSF2RA	1438	broad.mit.edu	37	X	1428322	1428322	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:1428322G>T	ENST00000381524.3	+	13	1339	c.1153G>T	c.(1153-1155)Gaa>Taa	p.E385*	CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.E252*|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.E385*|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G325V|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.E385*|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.E419*|CSF2RA_ENST00000355805.2_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	385						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	CACCCCAGAGGAAGGGAAAGG	0.542000													23	73					2.89027e-11	3.8966e-11	1	1	0
VCAN	1462	broad.mit.edu	37	5	82817667	82817667	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:82817667G>T	ENST00000265077.3	+	7	4107	c.3542G>T	c.(3541-3543)gGc>gTc	p.G1181V	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1181V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G1133V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1181	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)		ATTGATTTAGGCTCAGGATTA	0.383000													59	177					3.56336e-21	6.02335e-21	1	1	0
SAMSN1	64092	broad.mit.edu	37	21	15872969	15872969	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr21:15872969T>A	ENST00000285670.2	-	7	1027	c.853A>T	c.(853-855)Att>Ttt	p.I285F	SAMSN1_ENST00000400566.1_Missense_Mutation_p.I217F|SAMSN1_ENST00000400564.1_Missense_Mutation_p.I49F	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	217	SAM.				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)		TCCACATAAATGAATTTGAAG	0.408000													58	139					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48270407	48270407	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:48270407C>A	ENST00000225964.5	-	26	1887	c.1767_splice	c.e26-1	p.G590_splice		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	590	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCGGGCTCTCCCTGTGGAGA	0.592000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						7	26					0.27861	0.280294	1	1	0
UGT1A8	54576	broad.mit.edu	37	2	234527015	234527015	+	Missense_Mutation	SNP	A	A	T	rs139633511		TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:234527015A>T	ENST00000373450.4	+	1	725	c.662A>T	c.(661-663)cAg>cTg	p.Q221L		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTATTTTGCCAGTATTTTTCC	0.423000													147	414					0	0	1	0	0
MIR296	407022	broad.mit.edu	37	20	57392727	57392727	+	RNA	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:57392727G>A	ENST00000385215.1	-	0	22					NR_029844.1																						CAGGATTGAGGGGGGGCCCTC	0.587000													13	28					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909071	92909071	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:92909071C>A	ENST00000532405.1	+	6	719	c.493C>A	c.(493-495)Cat>Aat	p.H165N	SLC24A4_ENST00000393265.2_Missense_Mutation_p.H101N|SLC24A4_ENST00000351924.5_Missense_Mutation_p.H148N|SLC24A4_ENST00000531433.1_Missense_Mutation_p.H165N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.H148N			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	165						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTTCATCACCCATGGGGACGT	0.587000													18	55					1.33834e-09	1.67544e-09	1	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023766	18023766	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:18023766G>T	ENST00000361221.3	+	29	3890	c.3731G>T	c.(3730-3732)gGg>gTg	p.G1244V	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G1205V|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G1205V|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G1017V|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G947V	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1244					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCTCCGGCGGGCAGGGCTAC	0.687000													30	59					1.62565e-12	2.30358e-12	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228464987	228464987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:228464987C>T	ENST00000570156.2	+	28	7926	c.7852C>T	c.(7852-7854)Cag>Tag	p.Q2618*	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.Q1090*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q2243*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q2243*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1612	Ig-like 25.				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)				CCATGATGCCCAGAGCTCTGC	0.637000													5	28					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64519430	64519430	+	Silent	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:64519430G>C	ENST00000164139.3	-	14	2132	c.1734C>G	c.(1732-1734)ctC>ctG	p.L578L	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Silent_p.L490L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	578					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGCAGTTGAGGAGCTGTCGTT	0.512000													24	74					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18646679	18646679	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:18646679G>A	ENST00000379989.3	+	19	2970	c.2685G>A	c.(2683-2685)ccG>ccA	p.P895P	CDKL5_ENST00000379996.3_Silent_p.P895P	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	895					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AACCCGCACCGAAGGGCAGGC	0.582000													7	100					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	5002460	5002460	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr6:5002460T>A	ENST00000380051.2	-	2	187	c.143A>T	c.(142-144)gAa>gTa	p.E48V	RPP40_ENST00000464646.1_5'UTR|RPP40_ENST00000319533.5_Missense_Mutation_p.E48V	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	48					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TATCCCACATTCAGGAATGAG	0.358000													30	45					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3649189	3649189	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:3649189C>A	ENST00000263087.4	-	18	2286	c.2188G>T	c.(2188-2190)Gat>Tat	p.D730Y		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	730					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACATCCACATCCAGCGTGAAG	0.607000													30	113					3.57733e-08	4.22429e-08	1	1	0
PRKG2	5593	broad.mit.edu	37	4	82125882	82125882	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr4:82125882C>A	ENST00000395578.1	-	2	436	c.320G>T	c.(319-321)cGg>cTg	p.R107L	PRKG2_ENST00000418486.2_Missense_Mutation_p.R107L|PRKG2_ENST00000264399.1_Missense_Mutation_p.R107L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	107					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						AGAGGTCTTCCGGTGGACCTC	0.562000													71	215					7.65386e-43	1.40814e-42	1	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95614126	95614126	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:95614126G>T	ENST00000324972.6	+	8	824		c.e8-1		DYNC1I1_ENST00000447467.2_Splice_Site|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000359388.4_Splice_Site|DYNC1I1_ENST00000537881.1_Splice_Site|DYNC1I1_ENST00000457059.1_Splice_Site	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1						vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AATAAATAAAGCCCCTCCAAG	0.358000													34	74					6.00712e-18	9.57116e-18	1	1	0
CCDC34	91057	broad.mit.edu	37	11	27384611	27384611	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:27384611C>A	ENST00000317945.6	-	1	170	c.131G>T	c.(130-132)gGg>gTg	p.G44V	CCDC34_ENST00000328697.6_Missense_Mutation_p.G44V	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	44										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CACCTCCAGCCCCTGCCCACG	0.652000													18	53					1.02788e-11	1.40281e-11	1	1	0
FAM179A	165186	broad.mit.edu	37	2	29259465	29259465	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:29259465C>A	ENST00000379558.4	+	18	2828	c.2477C>A	c.(2476-2478)gCg>gAg	p.A826E	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A771E	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	826							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AACCAGTGGGCGCTGGAGTCC	0.517000													18	81					8.00594e-06	8.79861e-06	1	1	0
STRIP2	57464	broad.mit.edu	37	7	129096290	129096290	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:129096290G>T	ENST00000249344.2	+	9	885	c.845G>T	c.(844-846)gGt>gTt	p.G282V	STRIP2_ENST00000435494.2_Missense_Mutation_p.G282V	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TTTACCCTCGGTGGATTTGAG	0.507000													24	75					3.01185e-09	3.74233e-09	1	1	0
SYT13	57586	broad.mit.edu	37	11	45275887	45275887	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:45275887G>T	ENST00000020926.3	-	3	589	c.478C>A	c.(478-480)Ccc>Acc	p.P160T	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	160						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TGGAGTTTGGGGGCCTGGTTC	0.522000													15	58					0.000219431	0.000230507	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25448407	25448407	+	RNA	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:25448407G>T	ENST00000424208.1	+	0	2163				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TTGTCCTGAAGAGAGGTGATG	0.512000													82	298					2.56433e-40	4.69187e-40	1	1	0
MUC16	94025	broad.mit.edu	37	19	9063559	9063559	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr19:9063559G>A	ENST00000397910.4	-	3	24090	c.23887C>T	c.(23887-23889)Ccc>Tcc	p.P7963S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7965	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						TCCAGAAGGGGAGGGCTCATC	0.453000													19	30					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110864	55110864	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:55110864A>T	ENST00000314721.2	+	1	238	c.188A>T	c.(187-189)tAc>tTc	p.Y63F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTCCTTGCCTACTTGTCACTT	0.433000													60	204					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83433159	83433159	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:83433159G>C	ENST00000296591.5	-	5	787	c.369C>G	c.(367-369)tgC>tgG	p.C123W	EDIL3_ENST00000380138.3_Missense_Mutation_p.C113W	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	123	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)		GCTCAACTTCGCATTCATTTA	0.333000													26	99					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899013	233899013	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:233899013C>T	ENST00000233840.3	+	2	389	c.389C>T	c.(388-390)aCt>aTt	p.T130I		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	130							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)		GTCACCAGCACTGACCACGGG	0.637000													12	45					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185150	56185150	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:56185150G>T	ENST00000312253.1	-	1	558	c.559C>A	c.(559-561)Ctg>Atg	p.L187M		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAGCAGGACAGAGCTAAGAAG	0.448000													27	81					7.41945e-09	8.98428e-09	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43846479	43846479	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:43846479A>G	ENST00000389420.3	-	13	1779	c.1780T>C	c.(1780-1782)Tac>Cac	p.Y594H	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Y594H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	594	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCACACAGTAATTTCCTCCG	0.383000													11	26					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275893	152275893	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:152275893G>A	ENST00000368799.1	-	3	11504	c.11469C>T	c.(11467-11469)tcC>tcT	p.S3823S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3823	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)			CTGAGTGCCTGGAGCCGTCTC	0.577000									Ichthyosis				155	643					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15192621	15192621	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr9:15192621C>A	ENST00000355694.2	-	9	933	c.699G>T	c.(697-699)ggG>ggT	p.G233G	TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000297615.5_Silent_p.G230G|TTC39B_ENST00000507993.1_Silent_p.G134G|TTC39B_ENST00000512701.1_Silent_p.G299G|TTC39B_ENST00000380850.4_Silent_p.G299G|TTC39B_ENST00000507285.1_Silent_p.G134G	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	233							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GCTTGACACCCCCTTCAAACT	0.403000													26	133					5.77227e-19	9.42238e-19	1	1	0
SLC29A4	222962	broad.mit.edu	37	7	5340114	5340114	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:5340114G>A	ENST00000396872.2	+	10	1432	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R424H|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R410H	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	424					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TCCTGCCTGCGTGTGGTCTTC	0.692000													55	136					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558447	129558447	+	Nonsense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:129558447G>C	ENST00000422113.2	-	9	3599	c.3273C>G	c.(3271-3273)taC>taG	p.Y1091*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.Y629*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1091						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)		ACCTCTCCATGTAGTTGTGCA	0.502000													33	118					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072573	9072573	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr19:9072573G>T	ENST00000397910.4	-	3	15076	c.14873C>A	c.(14872-14874)aCc>aAc	p.T4958N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4960	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						AGACAGCCTGGTGTTGGTTTC	0.493000													35	70					9.04072e-19	1.45438e-18	1	1	0
BSCL2	26580	broad.mit.edu	37	11	62457842	62457842	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:62457842G>A	ENST00000433053.1	-	12	1942	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	BSCL2_ENST00000360796.5_Silent_p.S462S|BSCL2_ENST00000407022.3_Silent_p.S398S|BSCL2_ENST00000421906.1_Silent_p.S398S|BSCL2_ENST00000405837.1_Silent_p.S464S|BSCL2_ENST00000278893.7_3'UTR|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Silent_p.S398S			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	398					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTTTTCTTCAGGAACTAGAGC	0.547000													25	80					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610061	38610061	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr19:38610061G>T	ENST00000222345.6	+	9	2916	c.2407G>T	c.(2407-2409)Gct>Tct	p.A803S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	803	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTGATTAACGCTGAGAACGC	0.572000													65	81					1.84395e-34	3.31911e-34	1	1	0
SSPO	23145	broad.mit.edu	37	7	149523302	149523302	+	RNA	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:149523302G>T	ENST00000378016.2	+	0	14388							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)			GGGGTCCTGGGGTGGCACCAT	0.657000													11	45					4.3838e-07	4.94849e-07	1	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140772414	140772414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:140772414G>T	ENST00000398604.2	+	1	34	c.34G>T	c.(34-36)Gag>Tag	p.E12*	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACGCGGCGAGCTGATCCT	0.542000													6	24					8.12818e-05	8.56546e-05	1	1	0
BIN1	274	broad.mit.edu	37	2	127826500	127826500	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:127826500C>A	ENST00000316724.5	-	6	930	c.519_splice	c.e6+1	p.K173_splice	BIN1_ENST00000259238.4_Splice_Site_p.K173_splice|BIN1_ENST00000351659.3_Splice_Site_p.K173_splice|BIN1_ENST00000357970.3_Splice_Site_p.K173_splice|BIN1_ENST00000352848.3_Splice_Site_p.K173_splice|BIN1_ENST00000393041.3_Splice_Site_p.K173_splice|BIN1_ENST00000376113.2_Splice_Site_p.K173_splice|BIN1_ENST00000393040.3_Splice_Site_p.K173_splice|BIN1_ENST00000346226.3_Splice_Site_p.K173_splice|BIN1_ENST00000348750.4_Splice_Site_p.K173_splice|BIN1_ENST00000409400.1_Splice_Site_p.K173_splice	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	173	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CAGCCCTTACCTTGGCAATTT	0.637000													14	65					3.27435e-08	3.88028e-08	1	1	0
BRDT	676	broad.mit.edu	37	1	92459779	92459779	+	Missense_Mutation	SNP	A	A	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:92459779A>C	ENST00000370389.2	+	15	2960	c.2036A>C	c.(2035-2037)aAc>aCc	p.N679T	BRDT_ENST00000402388.1_Missense_Mutation_p.N752T|BRDT_ENST00000362005.3_Missense_Mutation_p.N752T|BRDT_ENST00000394530.3_Missense_Mutation_p.N706T|BRDT_ENST00000399546.2_Missense_Mutation_p.N752T	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGTGAAAAACATTTCACCT	0.328000													20	73					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	33935571	33935571	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr18:33935571C>A	ENST00000257209.4	+	2	357	c.235C>A	c.(235-237)Cag>Aag	p.Q79K	FHOD3_ENST00000445677.1_Missense_Mutation_p.Q79K|FHOD3_ENST00000590592.1_Missense_Mutation_p.Q79K|FHOD3_ENST00000359247.4_Missense_Mutation_p.Q79K	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	79	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCTGGCAGAGCAGCGGGATGA	0.562000													14	49					2.62699e-14	3.9053e-14	1	1	0
DOCK1	1793	broad.mit.edu	37	10	128840908	128840908	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:128840908A>T	ENST00000280333.6	+	20	2076	c.1967A>T	c.(1966-1968)gAt>gTt	p.D656V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	656	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GACACGTTGGATGCCCTCTTC	0.473000													43	135					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687787	61687787	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:61687787T>A	ENST00000577390.1	-	12	3079	c.2125A>T	c.(2125-2127)Agg>Tgg	p.R709W	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Splice_Site_p.R709_splice	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	709					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)		AGCCCTTGCCTTGGCATAAAC	0.423000													52	145					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69011847	69011847	+	Missense_Mutation	SNP	G	G	A	rs148459295	byFrequency	TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:69011847G>A	ENST00000543950.1	+	11	1606	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	CORO2B_ENST00000261861.5_Missense_Mutation_p.G418R|CORO2B_ENST00000540068.1_Missense_Mutation_p.G418R|CORO2B_ENST00000566799.1_Missense_Mutation_p.G423R	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	423					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGTGGTCAACGGAATAGATTT	0.403000													33	87					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77765851	77765851	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:77765851G>A	ENST00000261534.4	-	7	1072	c.870C>T	c.(868-870)ccC>ccT	p.P290P		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	290					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AGAGAGCCAGGGGCAGCACTA	0.522000													17	84					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806273	26806273	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:26806273T>C	ENST00000541819.2	-	9	1156	c.1054A>G	c.(1054-1056)Acc>Gcc	p.T352A	GABRB3_ENST00000299267.4_Missense_Mutation_p.T296A|GABRB3_ENST00000311550.5_Missense_Mutation_p.T296A|GABRB3_ENST00000400188.3_Missense_Mutation_p.T225A|GABRB3_ENST00000545868.1_Missense_Mutation_p.T211A			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	296					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTGGGCAAGGTCTCCCGAAGG	0.473000													10	113					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100364703	100364703	+	RNA	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:100364703G>T	ENST00000542585.1	+	0	4831				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCACTTCATGGGCACCTGCA	0.607000													27	79					6.12954e-19	9.95676e-19	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63175026	63175026	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:63175026C>A	ENST00000322893.7	-	11	2435	c.2167G>T	c.(2167-2169)Ggc>Tgc	p.G723C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	723					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTGTTGAGCCCTGATTCCGC	0.572000													31	96					4.74835e-14	6.96565e-14	1	1	0
RBP3	5949	broad.mit.edu	37	10	48388549	48388549	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:48388549C>T	ENST00000224600.4	-	1	2442	c.2329G>A	c.(2329-2331)Gcg>Acg	p.A777T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	777	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ATCACCAGCGCAGCCGTGTCC	0.632000													9	33					0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26694405	26694405	+	Silent	SNP	A	A	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:26694405A>C	ENST00000226218.4	-	8	2040	c.1422T>G	c.(1420-1422)gcT>gcG	p.A474A	TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_Intron|SEBOX_ENST00000438614.1_Intron|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	474					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GATGGCCAGGAGCTGGGCAGC	0.617000													14	40					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52825828	52825828	+	Silent	SNP	G	G	A	rs141787279		TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr3:52825828G>A	ENST00000273283.2	+	22	2661	c.2637G>A	c.(2635-2637)ccG>ccA	p.P879P	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.P737P|ITIH1_ENST00000537050.1_Silent_p.P591P|ITIH1_ENST00000405128.3_Silent_p.P245P	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	879	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCAAGGACCCGTGGCATGGGG	0.567000													13	47					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113241077	113241077	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:113241077G>C	ENST00000369644.1	+	17	3346	c.2317G>C	c.(2317-2319)Gtc>Ctc	p.V773L	MOV10_ENST00000369645.1_Missense_Mutation_p.V829L|MOV10_ENST00000413052.2_Missense_Mutation_p.V829L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.V829L			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	829					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AAGTGTGGGCGTCATCTCCCC	0.602000													14	42					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14861839	14861839	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr3:14861839G>A	ENST00000285046.5	+	1	1371	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	FGD5_ENST00000543601.1_Missense_Mutation_p.A180T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	421					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGAGGAGGAGGCCTTGGATGA	0.687000													15	36					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067808	190067808	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:190067808G>T	ENST00000367462.3	-	8	1872	c.1641C>A	c.(1639-1641)gtC>gtA	p.V547V	FAM5C_ENST00000534846.1_Silent_p.V445V|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		547						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAATCATATGGACCAGACTTG	0.463000													40	134					3.33393e-15	5.06941e-15	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34076810	34076810	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:34076810G>C	ENST00000373381.4	-	41	6350	c.6174C>G	c.(6172-6174)aaC>aaG	p.N2058K	CSMD2_ENST00000373388.2_Missense_Mutation_p.N157K|CSMD2_ENST00000373380.1_Missense_Mutation_p.N931K|CSMD2_ENST00000373377.1_Missense_Mutation_p.N157K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2018	CUB 12.					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)				TGTAGTCGTGGTTGGGCTCGG	0.562000													8	37					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924349	188924349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr4:188924349G>T	ENST00000326866.4	+	4	796	c.388G>T	c.(388-390)Gag>Tag	p.E130*	ZFP42_ENST00000509524.1_Nonsense_Mutation_p.E130*	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	130					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGTAAAGAAAGAGCTTCCACA	0.413000													41	144					1.22674e-20	2.0223e-20	1	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74507362	74507362	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:74507362C>G	ENST00000354431.4	-	7	1444	c.1253G>C	c.(1252-1254)cGa>cCa	p.R418P	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R418P	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	418								p.R418Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACTAAATGTTCGGAGTTTCAT	0.363000													29	104					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4850594	4850594	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:4850594C>A	ENST00000379333.1	-	12	1600	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	SLC23A2_ENST00000424750.2_Missense_Mutation_p.R289L|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.R403L	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	403					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.R403L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACAGGACAGCCGTGCACAGGC	0.577000													24	93					9.57634e-11	1.26545e-10	1	1	0
MRPS15	64960	broad.mit.edu	37	1	36926906	36926906	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:36926906C>A	ENST00000373116.5	-	4	420	c.259G>T	c.(259-261)Gat>Tat	p.D87Y		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	87					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCACGACATCATCAACCCTG	0.478000													15	53					4.7546e-09	5.84237e-09	1	1	0
LRP1B	53353	broad.mit.edu	37	2	142012133	142012133	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:142012133C>T	ENST00000389484.3	-	4	1392	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	141	EGF-like 1.				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)		AATCCATCCTCACAGTAACAT	0.323000										TSP Lung(27;0.18)			12	50					0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25284702	25284702	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:25284702T>C	ENST00000331161.4	-	3	539	c.320A>G	c.(319-321)aAt>aGt	p.N107S	ENKUR_ENST00000376363.1_Missense_Mutation_p.N107S	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	107						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TGCATTTGTATTTATAAAATT	0.388000													36	112					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233464509	233464509	+	Silent	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:233464509G>C	ENST00000366624.3	+	1	996	c.735G>C	c.(733-735)gcG>gcC	p.A245A	MLK4_ENST00000366623.3_Silent_p.A245A	NM_032435.2	NP_115811.2																					TGCAGATAGCGCGGGGCATGC	0.721000													5	11					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88534106	88534106	+	Silent	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr4:88534106C>T	ENST00000399271.1	+	4	888	c.768C>T	c.(766-768)gaC>gaT	p.D256D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.D256D	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	256					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGGATGAAGACGAGGGTTCTG	0.507000													22	51					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113314023	113314023	+	Splice_Site	SNP	T	T	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr8:113314023T>C	ENST00000297405.5	-	53	8683	c.8440_splice	c.e53+1	p.L2813_splice	CSMD3_ENST00000343508.3_Splice_Site_p.L2773_splice|CSMD3_ENST00000352409.3_Splice_Site_p.L2743_splice|CSMD3_ENST00000455883.2_Splice_Site_p.L2644_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2813	Sushi 17.					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						AATCTGTACCTAGGCATCTGG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	50					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087064	47087064	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:47087064G>T	ENST00000374312.1	+	3	700	c.281G>T	c.(280-282)tGc>tTc	p.C94F	NPY4R_ENST00000395716.1_Missense_Mutation_p.C94F	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.C94Y(1)									TGCCTCCTCTGCCAGCCGCTG	0.562000													31	139					2.85442e-18	4.56981e-18	1	1	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011390	46011390	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr21:46011390A>T	ENST00000400368.1	-	1	996	c.976T>A	c.(976-978)Tct>Act	p.S326T	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	326	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GAGGAGGCAGAGGCACCACAG	0.692000													40	76					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150282	34150282	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:34150282C>A	ENST00000346193.3	-	1	165	c.114G>T	c.(112-114)ctG>ctT	p.L38L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	38										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						GTGGGAACCTCAGGCGCCTGT	0.592000													34	53					1.56442e-22	2.71329e-22	1	1	0
OR52E6	390078	broad.mit.edu	37	11	5862768	5862768	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:5862768C>A	ENST00000329322.5	-	1	359	c.360G>T	c.(358-360)atG>atT	p.M120I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.M124I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCAAAGGCCATGGCCACCA	0.453000													88	216					3.83285e-27	6.78905e-27	1	1	0
LARGE	9215	broad.mit.edu	37	22	33670448	33670448	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr22:33670448C>G	ENST00000354992.2	-	16	2807	c.2236G>C	c.(2236-2238)Gcc>Ccc	p.A746P	LARGE_ENST00000437602.2_Missense_Mutation_p.A697P|LARGE_ENST00000337431.2_Missense_Mutation_p.A694P|LARGE_ENST00000452586.2_Missense_Mutation_p.A545P|LARGE_ENST00000402320.1_Missense_Mutation_p.A694P|LARGE_ENST00000397394.2_Missense_Mutation_p.A746P	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	746					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TATTTCAGGGCAGCAAAGCCG	0.542000											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	132					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20403296	20403296	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:20403296G>T	ENST00000222573.3	+	2	848	c.164G>T	c.(163-165)tGt>tTt	p.C55F	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	55					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCAGCATCCTGTGCCAGGTGC	0.393000													10	17					0.00136819	0.00141055	1	1	0
CST11	140880	broad.mit.edu	37	20	23433336	23433336	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:23433336A>T	ENST00000377009.3	-	1	146	c.113T>A	c.(112-114)aTg>aAg	p.M38K	CST11_ENST00000377007.3_Missense_Mutation_p.M38K	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	38					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTCTACTGCCATCACTTCATG	0.498000													44	153					0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99700561	99700561	+	Translation_Start_Site	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:99700561A>T	ENST00000422582.1	+	0	515				AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000359593.4_Missense_Mutation_p.Y110F|AP4M1_ENST00000429084.1_Missense_Mutation_p.Y117F|AP4M1_ENST00000421755.1_Missense_Mutation_p.Y110F			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTCTGGTATACGAACTCCTG	0.547000													21	49					0	0	1	0	0
HOPX	84525	broad.mit.edu	37	4	57514943	57514943	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr4:57514943C>A	ENST00000337881.7	-	3	821	c.165G>T	c.(163-165)ctG>ctT	p.L55L	HOPX_ENST00000553379.2_Silent_p.L55L|HOPX_ENST00000503639.3_Silent_p.L55L|HOPX_ENST00000420433.1_Silent_p.L73L|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000555760.2_Silent_p.L55L|HOPX_ENST00000381255.3_Silent_p.L55L|HOPX_ENST00000556614.2_Silent_p.L55L|HOPX_ENST00000508121.1_Silent_p.L73L|HOPX_ENST00000554144.1_3'UTR|HOPX_ENST00000317745.7_Silent_p.L55L|HOPX_ENST00000556376.2_Silent_p.L55L	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	55					negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					GCCACTTTGCCAGGCGCTGCT	0.478000													26	66					7.38237e-10	9.34726e-10	1	1	0
PCDHB13	56123	broad.mit.edu	37	5	140595675	140595675	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:140595675G>T	ENST00000341948.4	+	1	2167	c.1980G>T	c.(1978-1980)gtG>gtT	p.V660V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		660	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCACGTGCTCCTGGTGG	0.711000													40	113					4.01765e-15	6.05375e-15	1	1	0
HCLS1	3059	broad.mit.edu	37	3	121351019	121351019	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr3:121351019C>A	ENST00000314583.3	-	13	1344	c.1253G>T	c.(1252-1254)tGc>tTc	p.C418F	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.C381F	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	418					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		cccagccGGGCAGCCTGATGA	0.532000													14	43					9.31168e-06	1.02e-05	1	1	0
STX16	8675	broad.mit.edu	37	20	57246221	57246221	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:57246221G>A	ENST00000371141.4	+	7	1384	c.660G>A	c.(658-660)gaG>gaA	p.E220E	STX16_ENST00000359617.4_Silent_p.E167E|STX16_ENST00000371132.4_Silent_p.E199E|STX16_ENST00000361830.3_Silent_p.E220E|STX16_ENST00000358029.4_Silent_p.E216E|STX16_ENST00000496003.1_Intron|STX16_ENST00000355957.5_Silent_p.E203E|STX16_ENST00000361770.5_Silent_p.E203E|STX16-NPEPL1_ENST00000530122.1_Silent_p.E220E	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	220					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GTTTTACAGAGGACCAGTTAG	0.413000													15	74					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966358	41966358	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:41966358G>T	ENST00000298919.7	+	10	1385	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	PDZRN4_ENST00000539469.2_Missense_Mutation_p.D335Y|PDZRN4_ENST00000402685.2_Missense_Mutation_p.D593Y			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	593							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCAGAGCCAAGACACTCTGGG	0.493000													20	53					1.28384e-07	1.48444e-07	1	1	0
IGFN1	91156	broad.mit.edu	37	1	201195251	201195251	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:201195251G>T	ENST00000335211.4	+	22	10916	c.10786_splice	c.e22+1	p.D3596_splice	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGGCAGCGCGGTAAGCAGCC	0.662000													9	21					3.09899e-07	3.51007e-07	1	1	0
RNF217	154214	broad.mit.edu	37	6	125284172	125284172	+	Translation_Start_Site	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr6:125284172A>T	ENST00000560949.1	+	0	311				RP11-510H23.1_ENST00000439075.1_RNA|RNF217_ENST00000521654.2_Missense_Mutation_p.Q161L			Q8TC41	RN217_HUMAN	ring finger protein 217						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		GCCAAGAGACAAGTCTTCTGC	0.741000													4	12					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31835994	31835994	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr22:31835994G>A	ENST00000397525.1	-	19	3053	c.2830C>T	c.(2830-2832)Cgc>Tgc	p.R944C	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R920C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R599C|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R770C|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R944C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	944						nucleus	protein binding|protein transporter activity	p.R944C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCTGGGGCGATGCTCCAGC	0.622000													9	100					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80046325	80046325	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:80046325G>A	ENST00000306749.2	-	16	2752	c.2534C>T	c.(2533-2535)cCg>cTg	p.P845L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	845					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)	CTCGGCGGCCGGCACGTCCCA	0.662000													13	43					0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178																											CCAAGGTGGGCACTTGATGTC	0.612000													3	17					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803783	142803783	+	RNA	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:142803783A>T	ENST00000423385.1	-	0	1182																											atagttaacaaagtagctggc	0.403000													3	5					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105672	168105672	+	Silent	SNP	A	A	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:168105672A>G	ENST00000409195.1	+	9	7859	c.7770A>G	c.(7768-7770)caA>caG	p.Q2590Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q2590Q|XIRP2_ENST00000409273.1_Silent_p.Q2368Q|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2415					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						TGCCATTACAAAAAACCAATG	0.393000													37	109					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70531901	70531901	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:70531901T>C	ENST00000323786.5	-	10	1274	c.1253A>G	c.(1252-1254)cAg>cGg	p.Q418R		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	414					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AATTAGCTCCTGCATGGTACA	0.458000													40	102					0	0	1	0	0
CCSER2	54462	broad.mit.edu	37	10	86132045	86132045	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:86132045G>T	ENST00000224756.8	+	2	1422	c.1237G>T	c.(1237-1239)Gac>Tac	p.D413Y	CCSER2_ENST00000359979.4_Missense_Mutation_p.D413Y|CCSER2_ENST00000372088.2_Missense_Mutation_p.D413Y	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		TTTAAGTGAAGACTTTAGTGA	0.363000													11	115					1.08611e-07	1.26459e-07	1	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140741247	140741247	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:140741247C>A	ENST00000522605.1	+	1	1545	c.1545C>A	c.(1543-1545)ttC>ttA	p.F515L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_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)			GGGTGGTGTTCGCGCAGCGCG	0.667000													22	55					7.41877e-09	8.98428e-09	1	1	0
TAS2R46	259292	broad.mit.edu	37	12	11214037	11214037	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:11214037A>G	ENST00000533467.1	-	1	856	c.857T>C	c.(856-858)cTa>cCa	p.L286P	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	286					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGTCTGCTTTAGCTTCTTGTT	0.428000													76	263					0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274353	3274353	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:3274353T>A	ENST00000431561.3	-	5	1339	c.727A>T	c.(727-729)Act>Tct	p.T243S	ZNF200_ENST00000396871.4_Missense_Mutation_p.T242S|ZNF200_ENST00000575948.1_Missense_Mutation_p.T242S|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.T243S|ZNF200_ENST00000396868.3_Missense_Mutation_p.T242S|ZNF200_ENST00000396870.4_Missense_Mutation_p.T242S	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CGATTTCGAGTAAGGGCAATA	0.408000													30	134					0	0	1	0	0
FAM60A	58516	broad.mit.edu	37	12	31435711	31435711	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:31435711C>G	ENST00000337682.4	-	6	969	c.601G>C	c.(601-603)Gca>Cca	p.A201P	FAM60A_ENST00000454658.2_Missense_Mutation_p.A201P|FAM60A_ENST00000539409.1_Missense_Mutation_p.A53P|FAM60A_ENST00000395766.1_Missense_Mutation_p.A53P|FAM60A_ENST00000542983.1_Missense_Mutation_p.A53P	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	201										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TCAGCAGCTGCTTTCTTATTG	0.468000													17	60					0	0	1	0	0
ADO	84890	broad.mit.edu	37	10	64565041	64565041	+	Silent	SNP	A	A	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:64565041A>G	ENST00000373783.1	+	1	526	c.222A>G	c.(220-222)acA>acG	p.T74T	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	74							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCAAGGCCACACTGCAGCCGC	0.662000													7	24					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140243	178140243	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:178140243T>A	ENST00000335815.2	-	5	833	c.636A>T	c.(634-636)aaA>aaT	p.K212N		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	212					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		ATTTATAGCGTTTATCTGCTG	0.333000													45	127					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491319	30491319	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:30491319C>A	ENST00000222823.4	-	6	2239	c.1714G>T	c.(1714-1716)Ggt>Tgt	p.G572C		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	572					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGCGCCGGACCACTGCCCTGC	0.607000													25	75					5.35047e-06	5.89969e-06	1	1	0
CTSC	1075	broad.mit.edu	37	11	88027450	88027450	+	Silent	SNP	A	A	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:88027450A>G	ENST00000227266.5	-	7	1230	c.1116T>C	c.(1114-1116)gtT>gtC	p.V372V		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	372					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTCAAAAGCAACTGCCATGG	0.463000													33	104					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919525	4919525	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:4919525G>T	ENST00000433855.1	+	1	1184	c.318G>T	c.(316-318)ctG>ctT	p.L106L	KCNA6_ENST00000280684.3_Silent_p.L106L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	106						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGCCGCCTGCGGAGGCCGG	0.652000										HNSCC(72;0.22)			23	88					2.50493e-22	4.32198e-22	1	1	0
VCAN	1462	broad.mit.edu	37	5	82836899	82836899	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:82836899C>G	ENST00000265077.3	+	8	8642	c.8077C>G	c.(8077-8079)Ctg>Gtg	p.L2693V	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.L1706V|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2693	GAG-beta.				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)		GGCAACATCCCTGCCAATTCC	0.448000													26	113					0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384243	25384243	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:25384243C>A	ENST00000405623.1	-	3	966	c.511G>T	c.(511-513)Gcc>Tcc	p.A171S	POMC_ENST00000395826.2_Missense_Mutation_p.A171S|POMC_ENST00000264708.3_Missense_Mutation_p.A171S|POMC_ENST00000380794.1_Missense_Mutation_p.A171S			P01189	COLI_HUMAN	proopiomelanocortin	171					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	AGGGGGAAGGCCTCGGCCGAC	0.697000													5	17					1.23904e-05	1.33528e-05	1	1	0
SERPINB9	5272	broad.mit.edu	37	6	2896338	2896338	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr6:2896338C>A	ENST00000380698.4	-	3	344	c.255G>T	c.(253-255)ctG>ctT	p.L85L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	85					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCGTTCTCAGCAGGTACTGTG	0.443000													33	133					1.74807e-11	2.37595e-11	1	1	0
OR5M1	390168	broad.mit.edu	37	11	56380368	56380368	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:56380368C>A	ENST00000526538.1	-	1	610	c.611G>T	c.(610-612)gGc>gTc	p.G204V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAGATTAAAGCCTGCAACTAC	0.453000													26	75					9.86323e-18	1.54927e-17	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14752650	14752650	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr18:14752650G>T	ENST00000358984.4	+	2	487	c.307G>T	c.(307-309)Gat>Tat	p.D103Y	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D103Y|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	103										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAATGTCCTTGATGGCGAAGG	0.428000													5	21					1.23904e-05	1.33528e-05	1	1	0
CHD1	1105	broad.mit.edu	37	5	98204325	98204325	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:98204325C>A	ENST00000284049.3	-	30	4271	c.4122G>T	c.(4120-4122)aaG>aaT	p.K1374N	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1374					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TACCATCAGACTTGGATTCAC	0.378000													26	75					3.08376e-08	3.66747e-08	1	1	0
CTU2	348180	broad.mit.edu	37	16	88779313	88779313	+	Splice_Site	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:88779313G>C	ENST00000567949.1	+	7	959	c.950_splice	c.e7+1	p.R317_splice	CTU2_ENST00000378384.3_Splice_Site_p.R159_splice|CTU2_ENST00000312060.5_Splice_Site_p.R246_splice|CTU2_ENST00000453996.2_Splice_Site_p.R246_splice			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	246					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CAGACCCTGCGGTGAGGCCCC	0.677000													7	28					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61846512	61846512	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:61846512G>A	ENST00000280772.1	-	30	3862	c.3671C>T	c.(3670-3672)cCg>cTg	p.P1224L	ANK3_ENST00000503366.1_Missense_Mutation_p.P1225L|ANK3_ENST00000355288.2_Missense_Mutation_p.P358L|ANK3_ENST00000373827.2_Missense_Mutation_p.P1218L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1224					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						TCCTGAGGGCGGGGGCACCGG	0.463000													27	80					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20782623	20782623	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:20782623G>C	ENST00000404938.2	+	25	3800	c.3148G>C	c.(3148-3150)Ggg>Cgg	p.G1050R	ABCB5_ENST00000258738.6_Missense_Mutation_p.G605R	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	605					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						AGCATTTGTGGGGAGCAGCGG	0.478000													15	63					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263547	75263547	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:75263547G>A	ENST00000546196.1	-	7	4040	c.2388C>T	c.(2386-2388)ggC>ggT	p.G796G	BCAR1_ENST00000535626.2_Silent_p.G677G|BCAR1_ENST00000162330.5_Silent_p.G825G|BCAR1_ENST00000538440.2_Silent_p.G825G|BCAR1_ENST00000393420.6_Silent_p.G843G|BCAR1_ENST00000418647.3_Silent_p.G871G|BCAR1_ENST00000542031.2_Silent_p.G823G|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.G843G|BCAR1_ENST00000393422.2_Silent_p.G843G			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	825	Divergent helix-loop-helix motif.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGCCACGATGCCGCGCAGGA	0.662000													7	32					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065265	9065265	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr19:9065265G>T	ENST00000397910.4	-	3	22384	c.22181C>A	c.(22180-22182)tCc>tAc	p.S7394Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7396	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						AGACAGCTGGGAAGATGGAGG	0.507000													16	22					3.41278e-10	4.38786e-10	1	1	0
WDR93	56964	broad.mit.edu	37	15	90258279	90258279	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:90258279C>A	ENST00000268130.7	+	6	810	c.709C>A	c.(709-711)Ccc>Acc	p.P237T	WDR93_ENST00000560294.1_Missense_Mutation_p.P237T	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	237					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ACTAGAGCACCCCCAACTCAC	0.468000													9	43					3.09899e-07	3.51007e-07	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118539047	118539047	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:118539047C>T	ENST00000336338.5	-	34	5064	c.4999G>A	c.(4999-5001)Gca>Aca	p.A1667T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1667						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTTTATATGCCAAAGATAGA	0.383000													22	95					0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54757622	54757622	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:54757622G>T	ENST00000551809.1	-	1	649	c.14C>A	c.(13-15)tCt>tAt	p.S5Y	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.S5Y			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	5						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GTTGGCGTCAGAGCTGTTCCA	0.522000													14	27					6.08587e-21	1.01839e-20	1	1	0
TENM1	10178	broad.mit.edu	37	X	123556352	123556352	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:123556352T>C	ENST00000422452.2	-	24	4304	c.4241A>G	c.(4240-4242)cAg>cGg	p.Q1414R	TENM1_ENST00000371130.3_Missense_Mutation_p.Q1407R|STAG2_ENST00000469481.1_3'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCCTGGCACCTGGCAGTGAAT	0.517000													43	54					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666612	19666612	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr21:19666612C>A	ENST00000284885.3	-	21	2494	c.2461G>T	c.(2461-2463)Gtg>Ttg	p.V821L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	821	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCGGCGGACACCAGCCAGTCA	0.577000													27	76					2.48779e-11	3.36762e-11	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157926403	157926403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:157926403C>A	ENST00000389413.3	-	9	1625	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*	PTPRN2_ENST00000389416.4_Nonsense_Mutation_p.E491*|PTPRN2_ENST00000389418.4_Nonsense_Mutation_p.E508*|PTPRN2_ENST00000404321.2_Nonsense_Mutation_p.E531*|PTPRN2_ENST00000409483.1_Nonsense_Mutation_p.E470*	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	508						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGCGCCTCTTCCTCGGAAGGC	0.642000													24	80					7.92952e-12	1.09566e-11	1	1	0
OTUD7B	56957	broad.mit.edu	37	1	149919237	149919237	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:149919237C>A	ENST00000369135.3	-	11	1533		c.e11-1			NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						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)			CAGAATTACACTATGAAAAAG	0.423000													32	32					4.02929e-09	4.98793e-09	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50690906	50690906	+	Missense_Mutation	SNP	G	G	A	rs61760163	byFrequency	TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:50690906G>A	ENST00000355832.5	-	10	2074	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	ERCC6_ENST00000542458.1_Missense_Mutation_p.R36C	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	666	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGAGGGGTGCGAAACTATTTG	0.433000								Direct reversal of damage;Nucleotide excision repair (NER)					19	77					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60032812	60032812	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:60032812C>G	ENST00000397786.2	-	26	5975	c.5899G>C	c.(5899-5901)Gct>Cct	p.A1967P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1967					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCACAGAAGCAGAAGTAGGA	0.378000													22	121					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716156	50716156	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr22:50716156C>A	ENST00000449103.1	-	33	5200	c.5060G>T	c.(5059-5061)cGg>cTg	p.R1687L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1687L			O15031	PLXB2_HUMAN	plexin B2	1687					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)		CACCCAGAACCGGAGCGGTAA	0.642000													23	87					5.35356e-11	7.15958e-11	1	1	0
GRIP2	80852	broad.mit.edu	37	3	14558608	14558608	+	RNA	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr3:14558608G>T	ENST00000273083.3	-	0	1334							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TGCCTCCTCCGCCCCATTGTA	0.572000													4	21					0.0215528	0.0218148	1	1	0
SCFD1	23256	broad.mit.edu	37	14	31191118	31191118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:31191118C>T	ENST00000458591.2	+	22	1992	c.1765C>T	c.(1765-1767)Caa>Taa	p.Q589*	SCFD1_ENST00000396629.2_Nonsense_Mutation_p.Q497*|SCFD1_ENST00000544052.2_Nonsense_Mutation_p.Q522*|SCFD1_ENST00000421551.3_Nonsense_Mutation_p.Q530*|SCFD1_ENST00000541123.1_Nonsense_Mutation_p.Q404*	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	589					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AAATCCATTCCAAGAGGTAAG	0.333000													25	59					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21712280	21712280	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:21712280G>T	ENST00000388958.3	+	10	913	c.912G>T	c.(910-912)ctG>ctT	p.L304L	OTOA_ENST00000388956.4_Silent_p.L225L|OTOA_ENST00000286149.4_Silent_p.L304L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	304					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)		CACCTGAGCTGGCCCAGGCGT	0.527000													31	46					2.81731e-10	3.6363e-10	1	1	0
LCT	3938	broad.mit.edu	37	2	136570356	136570356	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:136570356G>T	ENST00000264162.2	-	7	1888	c.1878C>A	c.(1876-1878)ttC>ttA	p.F626L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	626	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCCAGCATGAAGTGCAAGA	0.587000													22	80					1.96292e-10	2.55333e-10	1	1	0
C15orf26	161502	broad.mit.edu	37	15	81428949	81428949	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:81428949G>T	ENST00000286732.4	+	3	335	c.252G>T	c.(250-252)gtG>gtT	p.V84V		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	84										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						AAGCTGATGTGTTTCTGCGTG	0.458000													32	85					1.99505e-19	3.27267e-19	1	1	0
MCHR2	84539	broad.mit.edu	37	6	100403881	100403881	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr6:100403881C>A	ENST00000281806.2	-	2	457	c.143G>T	c.(142-144)gGg>gTg	p.G48V	MCHR2_ENST00000445970.1_Missense_Mutation_p.G48V|MCHR2_ENST00000369212.1_Missense_Mutation_p.G48V	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	48						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCCAACCAGCCCTGTTGAACA	0.378000													29	91					1.17739e-12	1.67552e-12	1	1	0
TTC29	83894	broad.mit.edu	37	4	147861018	147861018	+	Silent	SNP	T	T	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr4:147861018T>C	ENST00000513335.1	-	4	307	c.108A>G	c.(106-108)acA>acG	p.T36T	TTC29_ENST00000325106.4_Silent_p.T10T|TTC29_ENST00000398886.4_Silent_p.T36T|RP11-292D4.2_ENST00000515530.1_RNA			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	10							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)					GCTTCGGGCGTGTCATGGGCA	0.433000													12	31					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107834356	107834356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:107834356G>T	ENST00000328300.6	+	20	1478	c.1234G>T	c.(1234-1236)Gga>Tga	p.G412*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.G412*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	412	Triple-helical region.		G -> V (in APSX; adult 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						AGGTGATGAAGGACCACCTGG	0.552000									Alport syndrome with Diffuse Leiomyomatosis				25	58					7.92952e-12	1.09566e-11	1	1	0
TBX1	6899	broad.mit.edu	37	22	19766908	19766908	+	Missense_Mutation	SNP	C	C	G	rs147834990		TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr22:19766908C>G	ENST00000329705.7	+	9	1304	c.1175C>G	c.(1174-1176)aCc>aGc	p.T392S	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	392					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCTGGGAGGACCGCAGGTGAC	0.567000													20	51					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78032663	78032663	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:78032663T>A	ENST00000397545.4	+	9	1351	c.1324T>A	c.(1324-1326)Tat>Aat	p.Y442N	CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000374877.3_Missense_Mutation_p.Y442N|CCDC40_ENST00000269318.5_Missense_Mutation_p.Y442N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	442					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAGGACCTGTATGTGGACCA	0.572000													30	102					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903668	119903668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr9:119903668G>A	ENST00000313400.4	-	4	1205	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Q369*			O75129	ASTN2_HUMAN	astrotactin 2	369						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGTTGCAGCTGACCGATCTCG	0.587000													19	48					0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	207012518	207012518	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:207012518C>T	ENST00000233190.5	-	6	645	c.379G>A	c.(379-381)Gac>Aac	p.D127N	NDUFS1_ENST00000455934.2_Missense_Mutation_p.D141N|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D127N|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D91N|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D16N|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D11N|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D70N	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	127					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ATAGGACAGTCCAATGGGTGA	0.363000													50	126					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107566948	107566948	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr9:107566948C>A	ENST00000374736.3	-	32	4912	c.4518G>T	c.(4516-4518)tcG>tcT	p.S1506S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1506			S -> L (in HDLD1).		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.S1506S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCAGATAATCCGAAATGTTTC	0.388000													54	212					1.61742e-36	2.94317e-36	1	1	0
GPAT2	150763	broad.mit.edu	37	2	96690281	96690281	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:96690281G>T	ENST00000434632.1	-	16	2022	c.1563C>A	c.(1561-1563)atC>atA	p.I521I	GPAT2_ENST00000359548.4_Silent_p.I521I|GPAT2_ENST00000453542.1_Silent_p.I450I|GPAT2_ENST00000377137.3_Silent_p.I521I			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	521					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CACCCTGACGGATGCGCAGCA	0.652000													35	66					9.04072e-19	1.45438e-18	1	1	0
HOXA3	3200	broad.mit.edu	37	7	27149788	27149788	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:27149788A>G	ENST00000396352.4	-	2	671	c.472T>C	c.(472-474)Tgg>Cgg	p.W158R	HOXA3_ENST00000317201.2_Missense_Mutation_p.W158R|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	158					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						TCTTTCATCCAGGGGAAGATT	0.572000													31	76					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784429	140784429	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:140784429C>T	ENST00000573521.1	+	1	1910	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGAGATGCGCTCAAACAG	0.607000													28	56					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918992	21918992	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:21918992T>G	ENST00000240662.2	-	3	1285	c.940A>C	c.(940-942)Att>Ctt	p.I314L	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	314						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TCCTCAGCAATGTAGGAGGTT	0.478000													25	92					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8136235	8136235	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:8136235G>C	ENST00000315684.8	-	11	1941	c.1934C>G	c.(1933-1935)cCa>cGa	p.P645R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	645					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TATCAGCCGTGGGTCACTGAG	0.547000													64	140					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101817565	101817565	+	RNA	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:101817565G>T	ENST00000360035.2	+	0	491					NR_002216.1															endometrium(2)|lung(8)	10						GAGTTGGATAGTGAATTCAAT	0.443000													6	13					0.00198382	0.00203265	1	1	0
PLA1A	51365	broad.mit.edu	37	3	119347560	119347560	+	Silent	SNP	A	A	G	rs41271395	byFrequency	TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr3:119347560A>G	ENST00000273371.4	+	10	1206	c.1134A>G	c.(1132-1134)caA>caG	p.Q378Q	PLA1A_ENST00000488919.1_Silent_p.Q205Q|PLA1A_ENST00000495992.1_Silent_p.Q362Q|PLA1A_ENST00000494440.1_Silent_p.Q362Q	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	378	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTAAGCAGCAACGCTATGGGA	0.483000													6	88					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239870	135239870	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr6:135239870C>T	ENST00000265605.2	-	7	1215	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.D329N|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.D333N	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	383					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CAGGATTCATCCTTAATGTCT	0.493000													44	112					0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11402238	11402238	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr3:11402238G>T	ENST00000354449.3	+	14	1688	c.1663G>T	c.(1663-1665)Gat>Tat	p.D555Y	ATG7_ENST00000354956.5_Missense_Mutation_p.D555Y|ATG7_ENST00000446450.2_Missense_Mutation_p.D516Y	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	555					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTTCTGCAATGATGTGGTGGC	0.493000													83	250					1.0532e-45	1.94842e-45	1	1	0
CHD6	84181	broad.mit.edu	37	20	40085957	40085957	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:40085957C>A	ENST00000373233.3	-	18	2953	c.2776G>T	c.(2776-2778)Ggg>Tgg	p.G926W	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	926	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGTCCAGCCCCAGCTTTAGG	0.542000													27	40					7.16444e-05	7.59796e-05	1	1	0
CCDC138	165055	broad.mit.edu	37	2	109455669	109455669	+	Missense_Mutation	SNP	A	A	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:109455669A>C	ENST00000295124.4	+	11	1295	c.1235A>C	c.(1234-1236)cAg>cCg	p.Q412P	CCDC138_ENST00000412964.2_Missense_Mutation_p.Q412P	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	412										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GAGCAGCTACAGTGGATGCCA	0.343000													27	59					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395203	94395203	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:94395203T>A	ENST00000267594.5	+	3	1065	c.758T>A	c.(757-759)cTg>cAg	p.L253Q	FAM181A_ENST00000556222.1_Missense_Mutation_p.L191Q|FAM181A_ENST00000557719.1_Missense_Mutation_p.L191Q|FAM181A_ENST00000557000.2_Missense_Mutation_p.L191Q	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	253										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCAAGGGCCCTGGCTGAAAAG	0.602000													12	29					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228476575	228476575	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:228476575C>A	ENST00000570156.2	+	43	11686	c.11612C>A	c.(11611-11613)aCt>aAt	p.T3871N	OBSCN_ENST00000366709.4_Missense_Mutation_p.T561N|OBSCN_ENST00000359599.6_Missense_Mutation_p.T2289N|OBSCN_ENST00000366707.4_Missense_Mutation_p.T561N|OBSCN_ENST00000284548.11_Missense_Mutation_p.T3442N|OBSCN_ENST00000422127.1_Missense_Mutation_p.T3442N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2908	Ig-like 39.				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)				ACCTCTGCCACTCTCACCGTG	0.612000													20	71					2.21704e-12	3.12827e-12	1	1	0
FN1	2335	broad.mit.edu	37	2	216251493	216251493	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:216251493G>T	ENST00000354785.4	-	28	4900	c.4531C>A	c.(4531-4533)Cca>Aca	p.P1511T	FN1_ENST00000359671.1_Missense_Mutation_p.P1420T|FN1_ENST00000446046.1_Missense_Mutation_p.P1420T|FN1_ENST00000432072.2_Missense_Mutation_p.P1511T|FN1_ENST00000421182.1_Missense_Mutation_p.P1420T|FN1_ENST00000357867.4_Missense_Mutation_p.P1420T|FN1_ENST00000357009.2_Missense_Mutation_p.P1420T|FN1_ENST00000356005.4_Missense_Mutation_p.P1420T|FN1_ENST00000346544.3_Missense_Mutation_p.P1420T|FN1_ENST00000345488.5_Missense_Mutation_p.P1420T|FN1_ENST00000336916.4_Missense_Mutation_p.P1420T|FN1_ENST00000323926.6_Missense_Mutation_p.P1511T|FN1_ENST00000443816.1_Missense_Mutation_p.P1420T			P02751	FINC_HUMAN	fibronectin 1	1510	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGTGCCTGGAGTGAGGTTG	0.517000													21	59					1.28384e-07	1.48444e-07	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189874947	189874947	+	Silent	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:189874947T>A	ENST00000304636.3	+	49	4037	c.3867T>A	c.(3865-3867)gcT>gcA	p.A1289A	COL3A1_ENST00000317840.5_Silent_p.A986A	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1289	Fibrillar collagen NC1.				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)	AATTGGATGCTATCAAGGTAT	0.388000													33	96					0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56398798	56398798	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:56398798A>G	ENST00000394109.3	+	3	2349	c.1625A>G	c.(1624-1626)tAt>tGt	p.Y542C	SUOX_ENST00000548274.1_Missense_Mutation_p.Y542C|SUOX_ENST00000266971.3_Missense_Mutation_p.Y542C|SUOX_ENST00000356124.4_Missense_Mutation_p.Y542C|SUOX_ENST00000394115.2_Missense_Mutation_p.Y542C			P51687	SUOX_HUMAN	sulfite oxidase	542	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GTCCATGTCTATGTCTCCCCA	0.527000													54	151					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78332046	78332046	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:78332046G>T	ENST00000370791.3	+	14	1565	c.1533G>T	c.(1531-1533)tcG>tcT	p.S511S	FAM73A_ENST00000443751.2_Silent_p.S473S	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	511						integral to membrane		p.S511S(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTTGTTGGTCGGTGCTGAAAC	0.323000													25	111					7.41945e-09	8.98428e-09	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34208987	34208987	+	Silent	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:34208987T>A	ENST00000373381.4	-	14	2243	c.2067A>T	c.(2065-2067)tcA>tcT	p.S689S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	649	Sushi 4.					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)				GCTGGTTTCCTGAGAAGGTGC	0.592000													27	77					0	0	1	0	0
TP53AIP1	63970	broad.mit.edu	37	11	128807551	128807551	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:128807551G>T	ENST00000602346.1	-	2	372	c.163C>A	c.(163-165)Cga>Aga	p.R55R	TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000531399.1_Intron|TP53AIP1_ENST00000530777.1_Intron	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	0					apoptosis	mitochondrion				large_intestine(1)|lung(1)|skin(1)	3						AGACCGTCTCGGTTTTCACTG	0.612000													37	82					1.30998e-17	2.048e-17	1	1	0
EYA2	2139	broad.mit.edu	37	20	45811992	45811992	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:45811992T>A	ENST00000327619.5	+	15	1863	c.1489T>A	c.(1489-1491)Tac>Aac	p.Y497N	EYA2_ENST00000357410.3_Missense_Mutation_p.Y418N|EYA2_ENST00000317304.6_Missense_Mutation_p.Y467N	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	497					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AAAAGCTGTCTACGTGGTGAT	0.532000													35	87					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045465	35045465	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:35045465G>T	ENST00000290374.4	-	2	656	c.180C>A	c.(178-180)ccC>ccA	p.P60P		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	60					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)		GGTTACAGCCGGGCTGCAGGG	0.547000													22	70					6.44725e-10	8.2258e-10	1	1	0
FLOT2	2319	broad.mit.edu	37	17	27207763	27207763	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:27207763C>A	ENST00000394906.2	-	12	1458	c.1381G>T	c.(1381-1383)Gtg>Ttg	p.V461L	FLOT2_ENST00000585169.1_Missense_Mutation_p.V406L|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.V406L			Q14254	FLOT2_HUMAN	flotillin 2	406					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AGGGCATGCACAGAGGCAGGC	0.597000													34	105					3.90053e-15	5.90398e-15	1	1	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492575	198492575	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:198492575G>A	ENST00000367381.1	-	5	426	c.321C>T	c.(319-321)agC>agT	p.S107S	ATP6V1G3_ENST00000281087.2_Silent_p.S101S|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Silent_p.S107S|ATP6V1G3_ENST00000367382.1_Silent_p.S101S			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	101					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						CACAGACCATGCTCAAGAGCT	0.383000													10	52					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67686212	67686212	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:67686212C>A	ENST00000334583.6	+	27	3115	c.2787C>A	c.(2785-2787)ttC>ttA	p.F929L	RLTPR_ENST00000545661.1_Missense_Mutation_p.F893L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	929	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTCTTTTCTTCCCCGaggaga	0.567000													17	75					1.99824e-07	2.28664e-07	1	1	0
LILRB4	11006	broad.mit.edu	37	19	55179238	55179238	+	Silent	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr19:55179238C>T	ENST00000391736.1	+	13	1509	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Silent_p.D398D|LILRB4_ENST00000430952.2_Silent_p.D397D|LILRB4_ENST00000391733.3_Silent_p.D399D	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	398						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GACAGATGGACACTGAGGTGA	0.602000													12	33					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43893883	43893883	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:43893883C>A	ENST00000314537.5	+	3	401	c.176C>A	c.(175-177)cCt>cAt	p.P59H	CRHR1_ENST00000352855.5_Intron|CRHR1_ENST00000398285.3_Missense_Mutation_p.P59H|CRHR1_ENST00000577353.1_Missense_Mutation_p.P59H|CRHR1_ENST00000339069.5_5'UTR|CRHR1_ENST00000293493.7_5'UTR	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	59					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCCCGCAGCCCTGCGGGGCAG	0.607000													17	34					0.000566183	0.000589184	1	1	0
CYP2C9	1559	broad.mit.edu	37	10	96701771	96701771	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:96701771G>C	ENST00000260682.6	+	2	337	c.325G>C	c.(325-327)Gga>Cga	p.G109R	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	109					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCTAACAGAGGATTTGGTAG	0.512000													55	158					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36583748	36583748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:36583748G>T	ENST00000280527.2	+	1	680	c.313G>T	c.(313-315)Gaa>Taa	p.E105*		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	105	IGFBP N-terminal.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CACCGAGTACGAAGCGGGCGT	0.701000													17	47					1.99824e-07	2.28664e-07	1	1	0
MSGN1	343930	broad.mit.edu	37	2	17998038	17998038	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:17998038G>A	ENST00000281047.3	+	1	276	c.253G>A	c.(253-255)Ggt>Agt	p.G85S		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	85					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAGTGTCGGTGGGGCCAG	0.632000													15	82					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52067896	52067896	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:52067896C>T	ENST00000361781.2	-	10	1867	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	SGMS1_ENST00000429490.1_Missense_Mutation_p.R134Q	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	309					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCACCAGAGTCGCCGAGGGGA	0.478000													20	59					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515614	70515614	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:70515614G>A	ENST00000381269.2	-	7	3030	c.2277C>T	c.(2275-2277)gcC>gcT	p.A759A	SLC8A3_ENST00000216568.7_Silent_p.A130A|SLC8A3_ENST00000356921.2_Silent_p.A753A|SLC8A3_ENST00000394330.2_Silent_p.A116A|SLC8A3_ENST00000533541.1_Silent_p.A116A|SLC8A3_ENST00000528359.1_Silent_p.A757A|SLC8A3_ENST00000357887.3_Silent_p.A757A|SLC8A3_ENST00000534137.1_Silent_p.A756A	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	759					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)		GGATGGAGACGGCGAAGCAGG	0.572000													10	33					0	0	1	0	0
SLC25A4	291	broad.mit.edu	37	4	186068041	186068041	+	Silent	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr4:186068041C>T	ENST00000281456.5	+	4	945	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	271					energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	AGGCCTTCTTCAAAGGTGCCT	0.448000													13	44					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2880254	2880254	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:2880254G>T	ENST00000382280.3	+	1	85	c.6G>T	c.(4-6)ggG>ggT	p.G2G		NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	2						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TCTGGATGGGGGCCCAGGGGG	0.682000													13	11					2.32078e-09	2.89446e-09	1	1	0
CXorf27	25763	broad.mit.edu	37	X	37850307	37850307	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:37850307C>A	ENST00000341016.3	+	1	238	c.215C>A	c.(214-216)gCc>gAc	p.A72D	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	72							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						GGCTTGGAGGCCAGCAACAAT	0.522000													24	40					1.9806e-07	2.28214e-07	1	1	0
CYP2C9	1559	broad.mit.edu	37	10	96698553	96698553	+	Silent	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:96698553G>C	ENST00000260682.6	+	1	126	c.114G>C	c.(112-114)gtG>gtC	p.V38V	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	38					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTCTCCCAGTGATTGGAAATA	0.463000													36	174					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039668	31039668	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr19:31039668G>T	ENST00000355537.3	+	4	3289	c.3142G>T	c.(3142-3144)Gcg>Tcg	p.A1048S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1048					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)					AGCCCGGGAGGCGAGTAAGAT	0.542000													45	78					7.05121e-23	1.23582e-22	1	1	0
ATF2	1386	broad.mit.edu	37	2	175962188	175962188	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:175962188G>A	ENST00000264110.2	-	11	1260	c.962C>T	c.(961-963)tCc>tTc	p.S321F	ATF2_ENST00000409437.1_Missense_Mutation_p.S205F|ATF2_ENST00000409635.1_Missense_Mutation_p.S263F|ATF2_ENST00000538946.1_Missense_Mutation_p.S303F|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.S321F|ATF2_ENST00000345739.5_Missense_Mutation_p.S263F|ATF2_ENST00000426833.3_Missense_Mutation_p.S303F|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	321					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TTCTGTAGTGGATGTGGCTGG	0.408000													13	171					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103859	168103859	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:168103859C>G	ENST00000409195.1	+	9	6046	c.5957C>G	c.(5956-5958)cCa>cGa	p.P1986R	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P1986R|XIRP2_ENST00000409273.1_Missense_Mutation_p.P1764R|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1811					actin cytoskeleton organization	cell junction	actin binding	p.P1986Q(1)		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						CCATTTGAGCCAGCGGCCAAG	0.468000													27	64					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88912645	88912645	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:88912645C>A	ENST00000347404.5	-	4	765		c.e4-1		KITLG_ENST00000228280.5_Splice_Site|KITLG_ENST00000378535.4_Splice_Site|KITLG_ENST00000357116.4_Intron	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand						cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						AATGACTTGGCTGCAAGATAT	0.353000									Testicular Cancer, Familial Clustering of				17	41					4.7546e-09	5.84237e-09	1	1	0
CST11	140880	broad.mit.edu	37	20	23433335	23433335	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:23433335C>A	ENST00000377009.3	-	1	147	c.114G>T	c.(112-114)atG>atT	p.M38I	CST11_ENST00000377007.3_Missense_Mutation_p.M38I	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	38					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTTCTACTGCCATCACTTCAT	0.493000													43	153					1.41504e-22	2.46705e-22	1	1	0
LRP1B	53353	broad.mit.edu	37	2	142012134	142012134	+	Missense_Mutation	SNP	A	A	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:142012134A>C	ENST00000389484.3	-	4	1391	c.420T>G	c.(418-420)tgT>tgG	p.C140W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	140	EGF-like 1.				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)		ATCCATCCTCACAGTAACATC	0.323000										TSP Lung(27;0.18)			13	50					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797607	76797607	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr4:76797607C>T	ENST00000286719.7	-	11	1509	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	385	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGGGAGAGCTCCCGCCCGTCC	0.672000													16	53					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27412634	27412634	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:27412634C>A	ENST00000527372.1	-	40	6065	c.5885G>T	c.(5884-5886)aGa>aTa	p.R1962I	MYO18A_ENST00000354329.4_Missense_Mutation_p.R1962I|MYO18A_ENST00000533112.1_Intron|TIAF1_ENST00000408971.2_Intron|MYO18A_ENST00000529578.1_Intron|MYO18A_ENST00000531253.1_Intron	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1962					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)			TTTATTCTTTCTTTTCTGATA	0.522000													16	33					7.07596e-05	7.5281e-05	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190067807	190067807	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:190067807G>A	ENST00000367462.3	-	8	1873	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	FAM5C_ENST00000534846.1_Missense_Mutation_p.H446Y|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		548						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATCATATGGACCAGACTT	0.468000													39	134					0	0	1	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10697641	10697641	+	Missense_Mutation	SNP	A	A	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr6:10697641A>C	ENST00000379568.3	+	2	460	c.169A>C	c.(169-171)Act>Cct	p.T57P		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	57					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TTTTGTGGTCACTGGGAGCAA	0.423000													41	169					0	0	1	0	0
FAM110A	83541	broad.mit.edu	37	20	825986	825986	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:825986G>A	ENST00000304189.2	+	3	920	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	FAM110A_ENST00000541082.1_Missense_Mutation_p.R180Q|FAM110A_ENST00000246100.3_Missense_Mutation_p.R180Q|RP11-276A18.2_ENST00000505691.2_RNA|FAM110A_ENST00000381939.1_Missense_Mutation_p.R180Q|FAM110A_ENST00000381941.3_Missense_Mutation_p.R180Q			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	180	Pro-rich.					microtubule organizing center|spindle pole	protein binding			breast(1)|lung(2)	3						agcccagcccggccGCCGGGT	0.706000													4	7					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686967	68686967	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:68686967G>C	ENST00000361320.4	+	2	871	c.293G>C	c.(292-294)aGc>aCc	p.S98T	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	98						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						AACCATATCAGCAATATTGAC	0.373000													40	172					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111772	64111772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:64111772G>T	ENST00000356786.5	+	14	1803	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	587					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAGACACAGGAGTCCCCGGA	0.642000													11	44					1.08611e-07	1.26459e-07	1	1	0
ATP11C	286410	broad.mit.edu	37	X	138870481	138870481	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:138870481G>A	ENST00000370557.1	-	14	2417	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.R467C|ATP11C_ENST00000359686.2_Missense_Mutation_p.R467C|ATP11C_ENST00000370543.1_Missense_Mutation_p.R467C|ATP11C_ENST00000361648.2_Missense_Mutation_p.R467C			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	467					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CACAAGGCACGTAGAAACAGC	0.368000													32	48					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914980	54914980	+	Silent	SNP	C	C	T	rs138460707	byFrequency	TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:54914980C>T	ENST00000293373.6	+	18	1915	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C	NCKAP1L_ENST00000545638.2_Silent_p.C562C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	612					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCAGCAATTGCGTCCTGGAGA	0.562000													21	75					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19052395	19052395	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr22:19052395G>A	ENST00000545799.1	-	4	705	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	DGCR2_ENST00000263196.7_Missense_Mutation_p.P172S|DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.P131S			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	172	C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTCCGCTCGGGCTGGTCCCAT	0.622000													18	57					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100253146	100253146	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:100253146C>T	ENST00000160382.5	-	3	272	c.166G>A	c.(166-168)Ggg>Agg	p.G56R		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	56	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTTGTCCCCCTCCAGCTCC	0.632000													24	69					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185246	127185246	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:127185246G>T	ENST00000371124.3	-	1	1136	c.940C>A	c.(940-942)Ctc>Atc	p.L314I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	314						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCCTTCATGAGCCTTTCCTCC	0.498000													51	81					6.27289e-28	1.11704e-27	1	1	0
PGBD2	267002	broad.mit.edu	37	1	249211673	249211673	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:249211673G>C	ENST00000355360.4	+	3	407	c.137G>C	c.(136-138)tGg>tCg	p.W46S	PGBD2_ENST00000329291.5_Missense_Mutation_p.W297S|PGBD2_ENST00000539153.1_Missense_Mutation_p.W294S	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	297										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TACAAGATTTGGTGTGGGACA	0.552000													95	122					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91803553	91803553	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:91803553G>T	ENST00000394232.1	+	6	1392	c.922G>T	c.(922-924)Ggc>Tgc	p.G308C	SV2B_ENST00000330276.4_Missense_Mutation_p.G308C|SV2B_ENST00000545111.2_Missense_Mutation_p.G157C	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	308					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCACCAGATGGGCAAACATGA	0.458000													42	118					6.68952e-21	1.11381e-20	1	1	0
TGM6	343641	broad.mit.edu	37	20	2375118	2375118	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:2375118G>T	ENST00000202625.2	+	2	89	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	TGM6_ENST00000381423.1_Missense_Mutation_p.D10Y|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	10					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)	CACCAAGGTGGACTGGCAGCG	0.627000													10	44					3.07112e-06	3.40894e-06	1	1	0
SP110	3431	broad.mit.edu	37	2	231050816	231050816	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:231050816C>A	ENST00000258381.6	-	11	1250	c.1173G>T	c.(1171-1173)gtG>gtT	p.V391V	SP110_ENST00000258382.5_Silent_p.V391V|SP110_ENST00000358662.4_Silent_p.V391V|SP110_ENST00000338556.3_Silent_p.V93V|SP110_ENST00000392048.3_Silent_p.V389V|SP110_ENST00000540870.1_Silent_p.V397V	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	391					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CCTTATCCACCACTTGGAGCT	0.502000													34	115					4.74835e-14	6.96565e-14	1	1	0
SMC1A	8243	broad.mit.edu	37	X	53440276	53440276	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:53440276T>G	ENST00000322213.4	-	4	648	c.521A>C	c.(520-522)gAa>gCa	p.E174A	SMC1A_ENST00000375340.6_Intron|SMC1A_ENST00000463684.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	174					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTTCACCATTTCCTTCTTTCG	0.458000													25	96					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323013	31323013	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr18:31323013G>A	ENST00000269197.5	+	12	3201	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1067	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCGGGCCCAGCGAGAGGCTG	0.617000													4	44					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180486720	180486720	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:180486720G>T	ENST00000327705.9	+	11	1697	c.1466G>T	c.(1465-1467)aGg>aTg	p.R489M	BTNL9_ENST00000376842.3_Missense_Mutation_p.R490M	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	489	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCAGGCCCAGGGCCCACGAC	0.647000													36	30					3.78316e-11	5.0798e-11	1	1	0
ITGA4	3676	broad.mit.edu	37	2	182359478	182359478	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:182359478G>T	ENST00000397033.2	+	12	1708	c.1278G>T	c.(1276-1278)tcG>tcT	p.S426S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	426					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TCAGCAAATCGTTAAGTATGT	0.308000													20	104					1.22574e-08	1.47354e-08	1	1	0
MYH1	4619	broad.mit.edu	37	17	10399616	10399616	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:10399616G>T	ENST00000226207.5	-	34	5001	c.4907C>A	c.(4906-4908)gCc>gAc	p.A1636D	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	1636						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						CATGCGGTTGGCATGGTTCAG	0.507000													58	112					6.176e-18	9.79336e-18	1	1	0
GRID1	2894	broad.mit.edu	37	10	87628883	87628883	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:87628883T>C	ENST00000327946.7	-	6	920	c.835A>G	c.(835-837)Acc>Gcc	p.T279A		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	279						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)	CGGACCACGGTCATCCTTCCA	0.522000										Multiple Myeloma(13;0.14)			41	116					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922667	43922667	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:43922667C>G	ENST00000329196.5	+	1	412	c.395C>G	c.(394-396)aCc>aGc	p.T132S	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	132						integral to membrane	aspartic-type endopeptidase activity										TGCTCAGACACCACCCTGGCA	0.627000													13	47					0	0	1	0	0
MRPS15	64960	broad.mit.edu	37	1	36926905	36926905	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:36926905T>C	ENST00000373116.5	-	4	421	c.260A>G	c.(259-261)gAt>gGt	p.D87G		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	87					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCACGACATCATCAACCCT	0.473000													14	53					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82333781	82333781	+	Silent	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr9:82333781C>T	ENST00000376520.4	+	16	2409	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	TLE4_ENST00000376534.4_Silent_p.I132I|TLE4_ENST00000265284.6_Silent_p.I470I|TLE4_ENST00000376544.3_Silent_p.I426I|TLE4_ENST00000376552.2_Silent_p.I495I|TLE4_ENST00000376537.4_Silent_p.I527I			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CGGTGACCATCAGCAACCCCA	0.622000													9	168					0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110843118	110843118	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:110843118G>A	ENST00000296632.3	-	2	148	c.14C>T	c.(13-15)tCt>tTt	p.S5F	STARD4_ENST00000502322.1_Missense_Mutation_p.S5F|STARD4_ENST00000512160.1_Missense_Mutation_p.S5F|STARD4_ENST00000511569.1_Intron|STARD4_ENST00000509887.1_Missense_Mutation_p.S5F	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	5	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		AGCAACATCAGACAGGCCTTC	0.413000													23	38					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555740	155555740	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:155555740C>A	ENST00000295101.2	+	1	930	c.453C>A	c.(451-453)atC>atA	p.I151I	KCNJ3_ENST00000544049.1_Silent_p.I151I	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	151					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ACCGATACATCACAGACAAGT	0.542000													13	62					0.00136819	0.00141055	1	1	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103473386	103473386	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr13:103473386G>T	ENST00000602836.1	+	3	519		c.e3-1		BIVM_ENST00000448849.2_Splice_Site|BIVM_ENST00000419638.1_Splice_Site|BIVM_ENST00000257336.1_Splice_Site	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN							nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TGTGTTCTCAGGTACTGCATA	0.343000													29	122					3.1745e-13	4.61619e-13	1	1	0
CADM3	57863	broad.mit.edu	37	1	159162411	159162411	+	Silent	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:159162411C>T	ENST00000368125.4	+	3	430	c.273C>T	c.(271-273)caC>caT	p.H91H	CADM3_ENST00000368124.4_Silent_p.H125H	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	91	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTACGCCCCACGAGCTCAGCA	0.517000													27	110					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902098	247902098	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:247902098T>G	ENST00000283225.2	+	1	182	c.182T>G	c.(181-183)cTc>cGc	p.L61R	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TACTTTTTCCTCCGACATTTG	0.488000													24	112					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266344	38266344	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr13:38266344G>T	ENST00000379705.3	-	4	1883	c.1026C>A	c.(1024-1026)gtC>gtA	p.V342V	TRPC4_ENST00000379681.3_Silent_p.V342V|TRPC4_ENST00000358477.2_Silent_p.V342V|TRPC4_ENST00000338947.5_Silent_p.V169V|TRPC4_ENST00000355779.2_Silent_p.V342V|TRPC4_ENST00000379673.2_Silent_p.V342V|TRPC4_ENST00000379679.1_Silent_p.V169V|TRPC4_ENST00000447043.1_Silent_p.V342V|TRPC4_ENST00000426868.2_Silent_p.V342V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	342					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)		ACACAGAGAAGACAGGAAAAA	0.468000													24	39					0.000375601	0.000393318	1	1	0
UGCG	7357	broad.mit.edu	37	9	114695260	114695260	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr9:114695260G>A	ENST00000374279.3	+	9	1618	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	390					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TACAGCAGAGGAAATCCTAGA	0.343000													25	57					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914979	54914979	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:54914979G>T	ENST00000293373.6	+	18	1914	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.C562F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	612					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACCAGCAATTGCGTCCTGGAG	0.562000													21	74					8.34094e-07	9.35196e-07	1	1	0
FOXP2	93986	broad.mit.edu	37	7	114303530	114303530	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:114303530C>T	ENST00000408937.3	+	16	2244	c.1870C>T	c.(1870-1872)Cct>Tct	p.P624S	FOXP2_ENST00000403559.4_Missense_Mutation_p.P616S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393494.2_Missense_Mutation_p.P599S|FOXP2_ENST00000350908.4_Missense_Mutation_p.P599S|FOXP2_ENST00000393498.2_Missense_Mutation_p.P578S|FOXP2_ENST00000393491.3_Missense_Mutation_p.P414S|FOXP2_ENST00000393489.3_Missense_Mutation_p.P507S	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	599					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AAAAAATATACCTACCAGTTT	0.299000													18	64					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24040372	24040372	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:24040372G>A	ENST00000397118.3	-	6	2470	c.1568C>T	c.(1567-1569)cCa>cTa	p.P523L	JPH4_ENST00000356300.4_Missense_Mutation_p.P523L|JPH4_ENST00000544177.1_Missense_Mutation_p.P188L	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	523					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)		TCTGGGCCCTGGCCCTTGCAT	0.657000													91	319					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44841660	44841660	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:44841660G>T	ENST00000372262.3	-	5	1406	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.Q336K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	336	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)				ATGGCCTCCTGAGTGTCGCTG	0.612000													7	51					1.76689e-08	2.10887e-08	1	1	0
OPALIN	93377	broad.mit.edu	37	10	98108059	98108059	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:98108059G>T	ENST00000419479.1	-	6	713	c.206C>A	c.(205-207)cCc>cAc	p.P69H	OPALIN_ENST00000536387.1_Missense_Mutation_p.P69H|OPALIN_ENST00000393870.2_Missense_Mutation_p.P68H|OPALIN_ENST00000393871.1_Missense_Mutation_p.P56H|OPALIN_ENST00000371172.3_Missense_Mutation_p.P79H	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	79						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						AGATATCTTGGGATTGTCATC	0.328000													5	46					1.23904e-05	1.33528e-05	1	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812962	31812962	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr21:31812962G>T	ENST00000334067.3	+	1	366	c.317G>T	c.(316-318)gGt>gTt	p.G106V		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	106						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						GGATCTCTTGGTTGTGGAAGC	0.483000													41	154					4.17593e-13	6.04603e-13	1	1	0
YWHAQ	10971	broad.mit.edu	37	2	9731527	9731527	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:9731527G>C	ENST00000381844.4	-	2	575	c.412C>G	c.(412-414)Cga>Gga	p.R138G	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.R138G			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	138					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		TTACGTTTTCGATCATCACCA	0.373000													32	126					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100699	168100699	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:168100699C>G	ENST00000409195.1	+	9	2886	c.2797C>G	c.(2797-2799)Cga>Gga	p.R933G	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R933G|XIRP2_ENST00000409273.1_Missense_Mutation_p.R711G|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	758					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						GGAGTACACACGAACAGTGAA	0.338000													22	67					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46116844	46116844	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr19:46116844G>C	ENST00000536630.1	-	21	2358	c.2220C>G	c.(2218-2220)gaC>gaG	p.D740E	EML2_ENST00000245925.3_Missense_Mutation_p.D593E|EML2_ENST00000589876.1_Missense_Mutation_p.D593E|EML2_ENST00000587152.1_Missense_Mutation_p.D794E	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	593					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTTTGCCAAAGTCATCAGCTG	0.587000													15	51					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63963124	63963124	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:63963124C>A	ENST00000324472.4	-	21	2189	c.2006G>T	c.(2005-2007)cGg>cTg	p.R669L	DPY19L2_ENST00000413230.2_Missense_Mutation_p.R116L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	669					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TATTTTTGTCCGAGCCCttta	0.249000													26	103					5.45024e-15	8.17536e-15	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146829572	146829572	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:146829572C>A	ENST00000361727.3	+	8	1835	c.1319C>A	c.(1318-1320)aCc>aAc	p.T440N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	440	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATCACACAGACCAAGATGAGC	0.408000										HNSCC(39;0.1)			25	88					9.86323e-18	1.54927e-17	1	1	0
FTCD	10841	broad.mit.edu	37	21	47570081	47570081	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr21:47570081G>A	ENST00000397748.1	-	7	901	c.858C>T	c.(856-858)tgC>tgT	p.C286C	FTCD_ENST00000397743.1_Silent_p.C286C|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Silent_p.C286C|FTCD_ENST00000291670.5_Silent_p.C286C|FTCD_ENST00000397746.3_Silent_p.C286C|FTCD_ENST00000359679.2_Silent_p.C286C			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	286	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCTCCTTCTCGCAGTAGAAGG	0.677000													8	16					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124212	65124212	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:65124212G>A	ENST00000309880.5	+	2	1140	c.933G>A	c.(931-933)cgG>cgA	p.R311R		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	311	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						ACCGACACCGGCTGTTGGGCA	0.667000													17	41					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596998	136596998	+	Silent	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr6:136596998A>T	ENST00000531224.1	-	5	1917	c.1665T>A	c.(1663-1665)ccT>ccA	p.P555P	BCLAF1_ENST00000353331.4_Silent_p.P553P|BCLAF1_ENST00000392348.2_Silent_p.P553P|BCLAF1_ENST00000530767.1_Silent_p.P382P|BCLAF1_ENST00000527536.1_Silent_p.P555P|BCLAF1_ENST00000527759.1_Silent_p.P553P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	555					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AATCATCAAGAGGAACAGGTG	0.393000													18	283					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161300291	161300291	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:161300291C>A	ENST00000428797.2	+	6	779	c.424C>A	c.(424-426)Ccc>Acc	p.P142T	GABRA1_ENST00000437025.2_Missense_Mutation_p.P142T|GABRA1_ENST00000420560.1_Missense_Mutation_p.P142T|GABRA1_ENST00000444819.1_Missense_Mutation_p.P142T|GABRA1_ENST00000023897.6_Missense_Mutation_p.P142T|GABRA1_ENST00000393943.4_Missense_Mutation_p.P142T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	142					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CATGACCATGCCCAACAAACT	0.473000													27	61					6.38683e-12	8.9362e-12	1	1	0
MRPL15	29088	broad.mit.edu	37	8	55060069	55060069	+	Silent	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr8:55060069C>G	ENST00000260102.4	+	5	755	c.681C>G	c.(679-681)gcC>gcG	p.A227A		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	227					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CGGATCCTGCCAAATTTCCTG	0.438000													22	92					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65855118	65855118	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:65855118C>T	ENST00000395325.3	+	10	1359	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M	DNAJC6_ENST00000263441.7_Missense_Mutation_p.T388M|DNAJC6_ENST00000371069.4_Missense_Mutation_p.T458M	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.T401M(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CATCAAGATACGCTGGCCTTA	0.418000													29	75					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361450	70361450	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr4:70361450C>T	ENST00000305107.6	-	1	176	c.130G>A	c.(130-132)Gat>Aat	p.D44N	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.D44N|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	44					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACAAGTTCATCCAGGATTGTC	0.448000													51	183					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11159803	11159803	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:11159803G>T	ENST00000304623.8	-	12	2233	c.2044C>A	c.(2044-2046)Ctg>Atg	p.L682M	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.L345M|CTNND2_ENST00000458100.2_Missense_Mutation_p.L249M|CTNND2_ENST00000511377.1_Missense_Mutation_p.L591M|CTNND2_ENST00000359640.2_Missense_Mutation_p.L682M	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	682					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						GCGTTGGTCAGTACTGCTAGG	0.502000													42	116					3.54909e-21	6.02335e-21	1	1	0
ELL2	22936	broad.mit.edu	37	5	95234345	95234345	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:95234345G>T	ENST00000237853.4	-	8	1473	c.1124C>A	c.(1123-1125)cCt>cAt	p.P375H	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	375					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)		CAGCGGTGGAGGGGTAGGGAT	0.547000													31	134					9.65021e-13	1.37919e-12	1	1	0
DGKK	139189	broad.mit.edu	37	X	50127767	50127767	+	RNA	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:50127767G>T	ENST00000376025.2	-	0	2462							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)					CTTCCAGGAAGAAAGTTGAAC	0.423000													41	78					4.67007e-22	7.97503e-22	1	1	0
MAG	4099	broad.mit.edu	37	19	35801012	35801012	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr19:35801012C>A	ENST00000361922.4	+	8	1617	c.1467C>A	c.(1465-1467)acC>acA	p.T489T	MAG_ENST00000537831.2_Silent_p.T464T|MAG_ENST00000392213.3_Silent_p.T489T|MAG_ENST00000593348.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	489	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCATCTGCACCGCGAGGAACC	0.711000													18	80					1.45105e-14	2.16682e-14	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	29					1.23904e-05	1.33528e-05	1	1	0
LOC647264	647264	broad.mit.edu	37	13	64321102	64321102	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr13:64321102G>T	ENST00000453638.2	+	1	169	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C																	endometrium(2)|lung(1)|urinary_tract(1)	4						ctgtggctatggctccagcta	0.557000													18	13					3.99206e-14	5.90824e-14	1	1	0
CDH4	1002	broad.mit.edu	37	20	60348093	60348093	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:60348093C>A	ENST00000360469.5	+	4	519	c.431C>A	c.(430-432)cCc>cAc	p.P144H	CDH4_ENST00000543233.1_Missense_Mutation_p.P70H	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	144					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCTGGACCCCTCTCCGCCT	0.597000													8	33					5.4927e-09	6.72452e-09	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62288374	62288374	+	Silent	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:62288374G>C	ENST00000378024.4	-	5	13789	c.13515C>G	c.(13513-13515)ccC>ccG	p.P4505P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4505					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)				TCTTAAACTTGGGACCTTTGA	0.423000													13	156					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325838	79325838	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr9:79325838G>T	ENST00000428286.1	-	8	1475	c.275C>A	c.(274-276)cCc>cAc	p.P92H	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P451H			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	451					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCTCCCACGGGGCTGTCGTC	0.597000													12	35					1.08611e-07	1.26459e-07	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1926248	1926248	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:1926248C>A	ENST00000399161.2	-	10	2040	c.1293G>T	c.(1291-1293)ctG>ctT	p.L431L	MYT1L_ENST00000428368.2_Silent_p.L431L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	431					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)		CCAGCAGGGTCAGGTTCCCCT	0.552000													35	153					1.06647e-15	1.62906e-15	1	1	0
SALL4	57167	broad.mit.edu	37	20	50406961	50406961	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:50406961G>A	ENST00000217086.4	-	2	2172	c.2061C>T	c.(2059-2061)gtC>gtT	p.V687V	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	687					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTTTCGATGACATCATCAT	0.592000													16	61					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47819348	47819348	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:47819348C>T	ENST00000378460.2	-	27	3318	c.3272G>A	c.(3271-3273)cGc>cAc	p.R1091H	NUP160_ENST00000528071.1_Missense_Mutation_p.R977H|NUP160_ENST00000530326.1_Missense_Mutation_p.R977H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1091					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTAATTGTGGCGATAGATGTG	0.413000													23	86					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286285	48286285	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:48286285A>T	ENST00000320048.1	+	1	873	c.873A>T	c.(871-873)gaA>gaT	p.E291D		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGAATGCTGAAGTGAAAAATG	0.418000													29	62					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102918770	102918770	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:102918770G>T	ENST00000359520.7	+	16	3672	c.3446G>T	c.(3445-3447)tGc>tTc	p.C1149F	TECPR2_ENST00000558678.1_Missense_Mutation_p.C1149F	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1149							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						AAGGACCTGTGCAGCGTCAGC	0.642000													5	21					0.000602214	0.000624727	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25467574	25467574	+	RNA	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:25467574C>T	ENST00000453082.2	+	0	753				SNORD115-28_ENST00000363931.1_RNA	NR_003343.1																						ACACTTAGGCCGAACCTAGGT	0.512000													60	181					0	0	1	0	0
ZCRB1	85437	broad.mit.edu	37	12	42706924	42706924	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:42706924C>A	ENST00000266529.3	-	8	782	c.599G>T	c.(598-600)cGc>cTc	p.R200L	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159L	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	200					mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TATCCTTGGGCGTCTTGAATC	0.353000													12	41					2.27111e-07	2.59e-07	1	1	0
IQCE	23288	broad.mit.edu	37	7	2638184	2638184	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:2638184G>T	ENST00000402050.2	+	17	1710	c.1526G>T	c.(1525-1527)cGg>cTg	p.R509L	IQCE_ENST00000438376.2_Missense_Mutation_p.R493L|IQCE_ENST00000325979.7_Missense_Mutation_p.R444L|IQCE_ENST00000404984.1_Missense_Mutation_p.R458L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	509										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGGCTCCCGCGGCCCCGCTCC	0.677000													39	95					9.8876e-21	1.63809e-20	1	1	0
ZNF407	55628	broad.mit.edu	37	18	72345996	72345996	+	Silent	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr18:72345996C>T	ENST00000299687.5	+	1	3021	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	ZNF407_ENST00000577538.1_Silent_p.S1007S|ZNF407_ENST00000309902.6_Silent_p.S1007S|ZNF407_ENST00000582337.1_Silent_p.S1007S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1007					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATGTGTACTCCCAGAGAGATG	0.453000													45	102					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52811641	52811641	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr3:52811641G>T	ENST00000273283.2	+	1	34	c.10G>T	c.(10-12)Gcc>Tcc	p.A4S	ITIH1_ENST00000542827.1_Missense_Mutation_p.A4S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	4					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CATGGACGGTGCCATGGGGCC	0.557000													20	45					9.57634e-11	1.26545e-10	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23826100	23826100	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr4:23826100G>A	ENST00000264867.2	-	6	908	c.789C>T	c.(787-789)acC>acT	p.T263T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	263					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)				GTGACTCTGGGGTCAGAGGAA	0.338000													75	259					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522916	23522916	+	Silent	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:23522916G>C	ENST00000296682.3	+	8	986	c.804G>C	c.(802-804)ccG>ccC	p.P268P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	268	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTGATCTGCCGCTGGGTCTGC	0.567000										HNSCC(3;0.000094)			26	80					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234238162	234238162	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:234238162C>A	ENST00000409110.1	+	9	902	c.672C>A	c.(670-672)atC>atA	p.I224I	SAG_ENST00000449594.2_Silent_p.I90I	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	224					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GGGAGCCCATCCCTGTGACCG	0.443000													8	31					7.48243e-07	8.41773e-07	1	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654961	31654961	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr21:31654961G>T	ENST00000340345.4	-	1	315	c.290C>A	c.(289-291)tCc>tAc	p.S97Y		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	97						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGCTGATGGGGAGTTGCAGGG	0.562000													19	79					1.15919e-05	1.2656e-05	1	1	0
OR5L2	26338	broad.mit.edu	37	11	55595330	55595330	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:55595330G>T	ENST00000378397.1	+	1	636	c.636G>T	c.(634-636)atG>atT	p.M212I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TTACCATCATGATCATCCTCA	0.498000										HNSCC(27;0.073)			63	185					2.18419e-29	3.91041e-29	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16055313	16055313	+	Splice_Site	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:16055313C>T	ENST00000268712.3	-	8	1047		c.e8-1		NCOR1_ENST00000395848.1_Splice_Site|NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TATACAGTGGCTATAAAAGAA	0.308000													40	61					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89429822	89429822	+	RNA	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:89429822G>A	ENST00000532352.1	+	0	1859							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TAAGAATGATGAATGATCAAC	0.318000													10	45					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79270125	79270125	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:79270125T>A	ENST00000554719.1	+	6	1579	c.1088T>A	c.(1087-1089)cTg>cAg	p.L363Q	NRXN3_ENST00000335750.5_Missense_Mutation_p.L363Q	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	141					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACCCTGCGTCTGGAGCTGGAT	0.552000													13	64					0	0	1	0	0
CXorf27	25763	broad.mit.edu	37	X	37850308	37850308	+	Silent	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:37850308C>G	ENST00000341016.3	+	1	239	c.216C>G	c.(214-216)gcC>gcG	p.A72A	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	72							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						GCTTGGAGGCCAGCAACAATG	0.517000													24	41					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308874	248308874	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:248308874G>T	ENST00000366476.1	+	1	425	c.425G>T	c.(424-426)gGa>gTa	p.G142V		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			AAAATTTGTGGACTTATGACT	0.468000													130	529					1.85467e-57	3.48929e-57	1	1	0
CYLC1	1538	broad.mit.edu	37	X	83129603	83129603	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chrX:83129603G>T	ENST00000329312.4	+	4	1924	c.1887G>T	c.(1885-1887)atG>atT	p.M629I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	629	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GGTGCAAGATGCCTCCTCCAC	0.408000													30	44					3.69857e-22	6.34857e-22	1	1	0
NEDD4L	23327	broad.mit.edu	37	18	56052803	56052803	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr18:56052803G>T	ENST00000456986.1	+	26	2709	c.2109G>T	c.(2107-2109)atG>atT	p.M703I	NEDD4L_ENST00000256832.7_Missense_Mutation_p.M684I|NEDD4L_ENST00000456173.2_Missense_Mutation_p.M683I|NEDD4L_ENST00000586263.1_Missense_Mutation_p.M796I|NEDD4L_ENST00000256830.9_Missense_Mutation_p.M720I|NEDD4L_ENST00000435432.2_Missense_Mutation_p.M683I|NEDD4L_ENST00000382850.4_Missense_Mutation_p.M804I|NEDD4L_ENST00000400345.3_Missense_Mutation_p.M824I|NEDD4L_ENST00000357895.5_Missense_Mutation_p.M816I|NEDD4L_ENST00000431212.2_Missense_Mutation_p.M703I|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.M760I	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	824	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGAAGCAGATGAACGCCTTCT	0.532000													21	73					1.22574e-08	1.47354e-08	1	1	0
LINC00207	388910	broad.mit.edu	37	22	44965251	44965251	+	RNA	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr22:44965251G>T	ENST00000605505.1	+	0	20					NR_028409.1															lung(3)	3						tcagatgggagggtgacctgg	0.532000													13	29					4.36969e-10	5.59657e-10	1	1	0
IGDCC4	57722	broad.mit.edu	37	15	65684551	65684551	+	Silent	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:65684551C>A	ENST00000352385.2	-	11	2252	c.2043G>T	c.(2041-2043)ggG>ggT	p.G681G		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	681	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTCCACGGCCCCCTGGCAGGC	0.637000													21	52					9.57634e-11	1.26545e-10	1	1	0
TRBC2	28638	broad.mit.edu	37	7	142499005	142499005	+	RNA	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:142499005C>A	ENST00000466254.1	+	0	281																											GCAACCACTTCCGCTGTCAAG	0.627000													12	118					6.40141e-05	6.83228e-05	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70634938	70634938	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:70634938G>T	ENST00000381269.2	-	2	955	c.202C>A	c.(202-204)Cct>Act	p.P68T	SLC8A3_ENST00000356921.2_Missense_Mutation_p.P68T|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P68T|SLC8A3_ENST00000357887.3_Missense_Mutation_p.P68T|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P68T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	68					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)		CCAAGGGAAGGGTTCTCCGGG	0.542000													20	58					1.2644e-06	1.41291e-06	1	1	0
SYT17	51760	broad.mit.edu	37	16	19194972	19194972	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:19194972G>C	ENST00000562034.1	+	3	4069	c.271G>C	c.(271-273)Gac>Cac	p.D91H	SYT17_ENST00000562711.2_Missense_Mutation_p.D148H|SYT17_ENST00000355377.2_Missense_Mutation_p.D152H|SYT17_ENST00000568115.1_Missense_Mutation_p.D91H			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	152						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TAACCCCGACGACTATTTCAG	0.537000													18	116					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231050818	231050818	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:231050818C>T	ENST00000258381.6	-	11	1248	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	SP110_ENST00000258382.5_Missense_Mutation_p.V391M|SP110_ENST00000358662.4_Missense_Mutation_p.V391M|SP110_ENST00000338556.3_Missense_Mutation_p.V93M|SP110_ENST00000392048.3_Missense_Mutation_p.V389M|SP110_ENST00000540870.1_Missense_Mutation_p.V397M	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	391					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTATCCACCACTTGGAGCTTC	0.507000													32	110					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380369	56380369	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr11:56380369C>A	ENST00000526538.1	-	1	609	c.610G>T	c.(610-612)Ggc>Tgc	p.G204C		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGATTAAAGCCTGCAACTACA	0.453000													25	73					1.55469e-16	2.40797e-16	1	1	0
MIR654	724024	broad.mit.edu	37	14	101506611	101506611	+	RNA	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr14:101506611C>A	ENST00000385199.1	+	0	56					NR_030390.1																						TGCCATATGTCTGCTGACCAT	0.567000													6	8					0.0215528	0.0218148	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57828182	57828182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:57828182C>T	ENST00000371030.2	+	4	4177	c.4177C>T	c.(4177-4179)Cga>Tga	p.R1393*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1393						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)					AATGGACAAACGAACTGTGAA	0.463000													29	115					0	0	1	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126769	73126769	+	RNA	SNP	A	A	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:73126769A>T	ENST00000569990.2	+	0	522					NR_027756.1																						GGACAACAGTAAATCTGAGAG	0.522000													13	30					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992718	67992718	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr18:67992718G>T	ENST00000397942.3	+	2	1130	c.814G>T	c.(814-816)Gac>Tac	p.D272Y	SOCS6_ENST00000582322.1_Missense_Mutation_p.D272Y	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	272					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGTAGACCAGGACCTAGTTGT	0.577000													41	122					9.14704e-12	1.25866e-11	1	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140763118	140763118	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:140763118G>A	ENST00000518325.1	+	1	652	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGATGGCGGCGACCCGCC	0.602000													7	29					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52053913	52053913	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr6:52053913G>T	ENST00000340057.1	+	3	336	c.291G>T	c.(289-291)ttG>ttT	p.L97F		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	97					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					GCCGCCACTTGGGCTGCATCA	0.567000													19	42					6.94344e-10	8.82506e-10	1	1	0
AGK	55750	broad.mit.edu	37	7	141349062	141349062	+	Splice_Site	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:141349062G>T	ENST00000355413.4	+	14	1235		c.e14-1		AGK_ENST00000473247.1_Splice_Site|AGK_ENST00000535825.1_Splice_Site	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					AACCTTTTTAGAGCAAAGAAG	0.373000													16	56					6.31663e-08	7.43264e-08	1	1	0
REP15	387849	broad.mit.edu	37	12	27849586	27849586	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:27849586G>T	ENST00000310791.2	+	1	159	c.91G>T	c.(91-93)Gca>Tca	p.A31S	RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	31						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					TATAGTCCATGCAGCTCAGAA	0.463000													17	43					1.5739e-10	2.07157e-10	1	1	0
MYH3	4621	broad.mit.edu	37	17	10538842	10538842	+	Silent	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr17:10538842G>C	ENST00000583535.1	-	30	4101	c.4014C>G	c.(4012-4014)cgC>cgG	p.R1338R	MYH3_ENST00000226209.7_Silent_p.R1338R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1338					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACAGTCGTGGCGGGAGGACT	0.562000													46	75					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469211	72469211	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:72469211G>T	ENST00000296776.5	+	1	190	c.141G>T	c.(139-141)ctG>ctT	p.L47L	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	47						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GCATCTTTCTGGGACTGGTGG	0.562000													60	160					1.19403e-26	2.10377e-26	1	1	0
C7orf55	154791	broad.mit.edu	37	7	139030421	139030421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:139030421C>T	ENST00000297534.6	+	2	566	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	C7orf55-LUC7L2_ENST00000541170.3_Intron|LUC7L2_ENST00000541515.3_Intron|C7orf55_ENST00000481123.1_3'UTR	NM_197964.4	NP_932068.2			chromosome 7 open reading frame 55											breast(1)|lung(2)	3						GTTGCCCCATCAGCCTGGAGG	0.483000													11	32					0	0	1	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659775	172659775	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:172659775C>G	ENST00000329198.4	-	2	1045	c.772G>C	c.(772-774)Ggt>Cgt	p.G258R		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	258	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGCCGTAACCCGGATAGGCG	0.701000													3	11					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127738467	127738467	+	Splice_Site	SNP	T	T	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr9:127738467T>G	ENST00000336505.5	-	15	1385		c.e15-2		SCAI_ENST00000373549.4_Splice_Site	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGTGAAATTCTGTAATATATA	0.338000													25	60					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121728133	121728133	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:121728133C>T	ENST00000452319.1	+	7	1070	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.T9M|GLI2_ENST00000361492.4_Missense_Mutation_p.T337M			P10070	GLI2_HUMAN	GLI family zinc finger 2	337					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)				ATCAATGCCACGCCCACCCAG	0.627000													21	49					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508634	37508634	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:37508634T>C	ENST00000374660.1	+	40	4282	c.4183T>C	c.(4183-4185)Tgg>Cgg	p.W1395R	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.W1276R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.W1276R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1332						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						CAAAAATATGTGGCTTCAACA	0.333000													13	52					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101540538	101540538	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr9:101540538G>A	ENST00000353234.4	-	7	1584	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S	ANKS6_ENST00000540940.1_Missense_Mutation_p.P318S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P212S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P513S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	513										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCCGCATCAGGGAGTGCAGAG	0.557000													13	53					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726616	69726616	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr16:69726616A>G	ENST00000349945.1	+	14	4158	c.2606A>G	c.(2605-2607)aAt>aGt	p.N869S	NFAT5_ENST00000566899.1_Missense_Mutation_p.N869S|NFAT5_ENST00000432919.1_Missense_Mutation_p.N963S|NFAT5_ENST00000393742.2_Missense_Mutation_p.N869S|NFAT5_ENST00000354436.2_Missense_Mutation_p.N945S|NFAT5_ENST00000567239.1_Missense_Mutation_p.N962S	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	945					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTGTCTACCAATGAGGATATG	0.448000													31	99					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517005	140517005	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:140517005C>A	ENST00000231134.5	+	1	2206	c.1989C>A	c.(1987-1989)gaC>gaA	p.D663E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		663	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D663D(1)		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)			TCCTGGTGGACGGCTTCTCCC	0.716000													38	131					1.06647e-15	1.62906e-15	1	1	0
ENKUR	219670	broad.mit.edu	37	10	25288332	25288332	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr10:25288332G>T	ENST00000331161.4	-	2	440	c.221C>A	c.(220-222)cCc>cAc	p.P74H	ENKUR_ENST00000376363.1_Missense_Mutation_p.P74H	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	74						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AAACCTACTGGGTGGTAGAGT	0.308000													21	66					7.45023e-12	1.03804e-11	1	1	0
HAVCR1	26762	broad.mit.edu	37	5	156456733	156456733	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:156456733A>G	ENST00000425854.1	-	7	1604	c.1072T>C	c.(1072-1074)Tgc>Cgc	p.C358R	HAVCR1_ENST00000339252.3_3'UTR|HAVCR1_ENST00000523175.1_3'UTR|HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.C358R			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCAAAGAGCACCACTGGGTC	0.408000													13	42					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25924083	25924083	+	Nonsense_Mutation	SNP	G	G	C			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr6:25924083G>C	ENST00000377850.3	-	3	604	c.80C>G	c.(79-81)tCa>tGa	p.S27*	SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.S27*|SLC17A2_ENST00000265425.3_Nonsense_Mutation_p.S27*			O00624	NPT3_HUMAN	solute carrier family 17, member 2	27					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GGTGAAGTTTGAGAAGTGCAT	0.483000													8	96					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47587708	47587708	+	Silent	SNP	G	G	A			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr20:47587708G>A	ENST00000371917.4	+	10	1242	c.1242G>A	c.(1240-1242)gtG>gtA	p.V414V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	414					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCCTCTCTGTGTTGCAAAATG	0.463000													37	126					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170011008	170011008	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:170011008G>T	ENST00000263816.3	-	66	12542	c.12257C>A	c.(12256-12258)gCt>gAt	p.A4086D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4086					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)	ATAATCAACAGCTTGGATATA	0.368000													25	97					2.36697e-06	2.63613e-06	1	1	0
ZP4	57829	broad.mit.edu	37	1	238048738	238048738	+	Silent	SNP	G	G	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:238048738G>T	ENST00000366570.4	-	8	1271	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	371	ZP.				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	p.P371P(1)		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)			GGTCAGTGCTGGGTGTTGCCC	0.537000													30	90					3.99451e-17	6.21575e-17	1	1	0
SLC35F3	148641	broad.mit.edu	37	1	234458973	234458973	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:234458973C>T	ENST00000366618.3	+	8	1602	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	SLC35F3_ENST00000366617.3_Missense_Mutation_p.P417L	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	417					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGAGCCCGCCCTTCCTTCGCC	0.577000											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	44					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449152	89449152	+	Silent	SNP	T	T	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:89449152T>G	ENST00000399794.2	-	3	1073	c.358A>C	c.(358-360)Agg>Cgg	p.R120R	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Silent_p.R120R	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	120							nucleotide binding|RNA binding										GGAGGTCCCCTGGTTCCTCCA	0.507000													44	125					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33936593	33936593	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:33936593A>G	ENST00000389232.4	+	28	3708	c.3638A>G	c.(3637-3639)tAt>tGt	p.Y1213C	RYR3_ENST00000415757.3_Missense_Mutation_p.Y1213C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1213	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)		TTCAAGTTTTATACCATGTGC	0.512000													5	22					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													5	6	---	---	---	---					
USP1	7398	broad.mit.edu	37	1	62916272	62916272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:62916272delA	ENST00000339950.4	+	9	2793	c.1978delA	c.(1978-1980)aafs	p.K661fs	USP1_ENST00000371146.1_Frame_Shift_Del_p.K661fs	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	661					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGTTTTGAACAAAAAAAATGT	0.373													8	93	---	---	---	---					
AMY2B	280	broad.mit.edu	37	1	104116960	104116960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr1:104116960delG	ENST00000361355.4	+	7	1439	c.823delG	c.(823-825)cafs	p.A275fs	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	275					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CAAGTATGGTGCAAAACTCGG	0.373													98	296	---	---	---	---					
PDE1A	5136	broad.mit.edu	37	2	183050667	183050667	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr2:183050667delC	ENST00000435564.1	-	13	1716	c.1516delG	c.(1516-1518)acfs	p.D506fs	PDE1A_ENST00000358139.2_Frame_Shift_Del_p.D506fs|PDE1A_ENST00000346717.4_Frame_Shift_Del_p.D472fs|PDE1A_ENST00000410103.1_Frame_Shift_Del_p.D506fs|PDE1A_ENST00000351439.5_Frame_Shift_Del_p.D490fs|PDE1A_ENST00000409365.1_Frame_Shift_Del_p.D490fs|PDE1A_ENST00000331935.6_Frame_Shift_Del_p.D506fs|PDE1A_ENST00000536095.1_Frame_Shift_Del_p.D402fs|PDE1A_ENST00000456212.1_Frame_Shift_Del_p.D506fs	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	506	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TGAATGATGTCCACCAGGTTG	0.468													24	79	---	---	---	---					
PCDHB1	29930	broad.mit.edu	37	5	140432109	140432109	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr5:140432109delG	ENST00000306549.3	+	1	1131	c.1054delG	c.(1054-1056)tgfs	p.V352fs		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		352	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCTCTGTGTCCAGCCC	0.527													26	97	---	---	---	---					
HBS1L	10767	broad.mit.edu	37	6	135318589	135318589	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr6:135318589delC	ENST00000367837.5	-	6	951	c.745delG	c.(745-747)cgfs	p.A249fs	HBS1L_ENST00000415177.2_Frame_Shift_Del_p.A184fs|HBS1L_ENST00000367826.2_Frame_Shift_Del_p.A207fs|HBS1L_ENST00000527578.1_Frame_Shift_Del_p.A85fs|HBS1L_ENST00000367824.4_Frame_Shift_Del_p.A85fs|HBS1L_ENST00000445176.2_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	249					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TCCAGTTCCGCCTTCACATCT	0.522													41	100	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141		TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1																						GGTCATGTAAGTTTTTTTTTTT	0.401													3	3	---	---	---	---					
ASB6	140459	broad.mit.edu	37	9	132400638	132400638	+	Frame_Shift_Del	DEL	G	G	-			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr9:132400638delG	ENST00000277458.4	-	6	862	c.697delC	c.(697-699)agfs	p.Q233fs	ASB6_ENST00000277459.4_Frame_Shift_Del_p.P196fs|ASB6_ENST00000450050.2_Frame_Shift_Del_p.Q154fs	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	233					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				TTGATCATCTGGGCCTCCTCT	0.617													15	81	---	---	---	---					
ITGA5	3678	broad.mit.edu	37	12	54793692	54793692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr12:54793692delC	ENST00000293379.4	-	26	2944	c.2683delG	c.(2683-2685)aafs	p.E895fs	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	895					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTTGGAGCTTCCCGTTTTTGC	0.532											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	165	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-95-A4VK-01A-11D-A25L-08	TCGA-95-A4VK-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C11F13A3-03AF-4572-9211-F733F8A33636	E9CD02AD-20B6-4C4D-A7B8-90748837C861	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
