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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GRIN2B	2904	broad.mit.edu	37	12	13906573	13906573	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:13906573G>A	uc001rbt.2	-	2	867	c.688C>T	c.(688-690)Ctt>Ttt	p.L230F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	230					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTACAGTAAAGAAGAATGATG	0.512000														92			12		0	0	0.010729	0	0
KIF19	124602	broad.mit.edu	37	17	72338125	72338125	+	Splice_Site	SNP	G	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:72338125G>T	uc002jkm.4	+	3	369	c.231_splice	c.e3+1	p.Q77_splice	KIF19_uc002jkj.2_Splice_Site_p.Q77_splice|KIF19_uc002jkk.2_Splice_Site_p.Q77_splice|KIF19_uc002jkl.2_Splice_Site_p.Q77_splice	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	77	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCGCCACCCAGGTGAGGGAGG	0.667000														81			29		2.65835e-16	2.84475e-16	0.007291	1	0
C6orf15	29113	broad.mit.edu	37	6	31079719	31079719	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:31079719G>A	uc003nsk.1	-	1	417	c.417C>T	c.(415-417)tcC>tcT	p.S139S	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	139										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCGCAGCACTGGAGAGGTAAG	0.642000														57			15		0	0	0.004990	0	0
MIR323B	574410	broad.mit.edu	37	14	101522630	101522630	+	RNA	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:101522630C>T	uc021sdn.1	+	0		c.75C>T								Homo sapiens microRNA 323b (MIR323B), microRNA.																		GACCTCTTTTCGGTATCAGAT	0.512000														13			4		0	0	0.009096	0	0
MST1R	4486	broad.mit.edu	37	3	49933251	49933251	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:49933251G>A	uc003cxy.4	-	11	3123	c.2859C>T	c.(2857-2859)gtC>gtT	p.V953V	MST1R_uc011bdc.2_Silent_p.V904V	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	953					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTCTGTGGGACCCCATCTG	0.622000														48			10		0	0	0.008291	0	0
PELP1	27043	broad.mit.edu	37	17	4576337	4576337	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:4576337G>A	uc002fyi.4	-	15	2175	c.1949C>T	c.(1948-1950)cCa>cTa	p.P650L	PELP1_uc010vsf.2_Missense_Mutation_p.P503L	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	650	Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGGGGGAACTGGAGCAGGTGT	0.682000														49			14		0	0	0.001855	0	0
KIAA0247	9766	broad.mit.edu	37	14	70171398	70171398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:70171398C>T	uc001xlk.3	+	3	713	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	KIAA0247_uc010aqz.3_Missense_Mutation_p.L108F	NM_014734	NP_055549	Q92537	K0247_HUMAN	Homo sapiens KIAA0247 (KIAA0247), mRNA.	133						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GGCGCTCATTCTCCTCCTCGT	0.527000														43			14		0	0	0.001855	0	0
PAPPA	5069	broad.mit.edu	37	9	118949888	118949888	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr9:118949888G>A	uc004bjn.3	+	1	1252	c.871G>A	c.(871-873)Gac>Aac	p.D291N	PAPPA_uc011lxp.1_Missense_Mutation_p.D84N|PAPPA_uc011lxq.2_Missense_Mutation_p.D84N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	291	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGAGAACTGGGACAATGTGAA	0.582000														38			22		0	0	0.010504	0	0
ITGA2B	3674	broad.mit.edu	37	17	42463233	42463233	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:42463233C>T	uc002igt.1	-	2	399	c.367G>A	c.(367-369)Gga>Aga	p.G123R		NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	123					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GCCCCCAGTCCTTGGCGGGCC	0.642000														20			3		0	0	0.004672	0	0
MRPL42	28977	broad.mit.edu	37	12	93881291	93881291	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:93881291C>T	uc021rbv.1	+	5	417	c.238C>T	c.(238-240)Cct>Tct	p.P80S	MRPL42_uc001tct.3_Non-coding_Transcript|MRPL42_uc001tcq.3_Missense_Mutation_p.P80S|MRPL42_uc001tcs.3_Missense_Mutation_p.P80S|MRPL42_uc001tcr.3_Missense_Mutation_p.P80S			Q9Y6G3	RM42_HUMAN	Homo sapiens mitochondrial ribosomal protein L42 (MRPL42), transcript variant 4, non-coding RNA.	80					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						TCGGCCAGATCCTGTGCATAA	0.373000														58			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179554041	179554041	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:179554041C>T	uc021vsy.1	-	120	28480	c.28255G>A	c.(28255-28257)Gaa>Aaa	p.E9419K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6080K|TTN_uc010fre.1_Missense_Mutation_p.E530K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10346	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAACTTCTTCCTCCTTCCGA	0.378000														53			10		0	0	0.008291	0	0
SELE	6401	broad.mit.edu	37	1	169695858	169695858	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:169695858G>A	uc001ggm.4	-	10	1892	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	579					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AAGCATTTCCGAAGCCAGAGG	0.418000														48			7		0	0	0.003080	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				136			34		2.42023e-17	2.59786e-17	0.003271	1	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:29628251A>G	uc010ztl.1	+	2	195	c.163A>G	c.(163-165)Aat>Gat	p.N55D	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.N7D					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000														50			5		0	0	0.000602	0	0
MORC1	27136	broad.mit.edu	37	3	108819355	108819355	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:108819355C>T	uc003dxl.3	-	5	311	c.224_splice	c.e5-1	p.E75_splice	MORC1_uc011bhn.2_Splice_Site_p.E75_splice	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	75					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAAGCTTCCTCTGTAATTGAC	0.443000														50			16		0	0	0.003163	0	0
PLCB4	5332	broad.mit.edu	37	20	9404476	9404476	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:9404476C>T	uc021wam.1	+	23	2380	c.2365C>T	c.(2365-2367)Ctt>Ttt	p.L789F	PLCB4_uc010gbw.1_Missense_Mutation_p.L789F|PLCB4_uc010gbx.3_Missense_Mutation_p.L801F|PLCB4_uc021wal.1_Missense_Mutation_p.L789F|PLCB4_uc002wnh.3_Missense_Mutation_p.L636F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	789					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GATCCTCCCGCTTGATGGCCT	0.448000														24			8		0	0	0.003080	0	0
SH3TC2	79628	broad.mit.edu	37	5	148384390	148384390	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:148384390C>T	uc003lpu.3	-	16	3903	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	SH3TC2_uc003lpp.1_Intron|SH3TC2_uc010jgw.3_Missense_Mutation_p.D895N|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.D798N|SH3TC2_uc010jgx.3_Missense_Mutation_p.D1244N	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	1251							binding	p.Q1250L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAATGGTGTCCTGAAGCTCC	0.632000														38			19		0	0	0.007413	0	0
CCNT1	904	broad.mit.edu	37	12	49087393	49087393	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:49087393A>G	uc001rsd.4	-	8	1927	c.1604T>C	c.(1603-1605)gTt>gCt	p.V535A	CCNT1_uc009zkz.2_Missense_Mutation_p.V250A|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	535					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCCAGTACCAACTGGAAGTTG	0.428000														182			66		0	0	0.014410	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679284	176679284	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:176679284C>T	uc001gkz.3	+	10	4787	c.3623C>T	c.(3622-3624)tCc>tTc	p.S1208F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1208					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTCCTGTTTCCTTGGTAACT	0.463000														93			21		0	0	0.003330	0	0
E2F8	79733	broad.mit.edu	37	11	19246915	19246915	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:19246915G>A	uc001mpm.3	-	11	2796	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Silent_p.I758I	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	758					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACACAGGAACGATTCCAGACC	0.537000														92			34		0	0	0.010818	0	0
GRIP2	80852	broad.mit.edu	37	3	14552688	14552688	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:14552688C>T	uc021wtn.1	-	17	2206	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	640	PDZ 6.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGTCCTCGTCCTTCCGGATC	0.597000														24			7		0	0	0.001984	0	0
ZNF200	7752	broad.mit.edu	37	16	3274148	3274148	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:3274148G>A	uc002cuj.2	-	4	1564	c.932C>T	c.(931-933)tCt>tTt	p.S311F	ZNF200_uc002cum.3_Missense_Mutation_p.S310F|ZNF200_uc002cuk.2_Missense_Mutation_p.S311F|ZNF200_uc010bti.2_Missense_Mutation_p.S310F|ZNF200_uc002cui.2_Missense_Mutation_p.S310F|ZNF200_uc002cul.3_Missense_Mutation_p.S310F	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	311					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						TCCACACTGAGAACAGGAATA	0.388000														99			33		0	0	0.003755	0	0
RPE65	6121	broad.mit.edu	37	1	68906623	68906623	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:68906623C>T	uc001dei.1	-	5	610	c.556G>A	c.(556-558)Gat>Aat	p.D186N		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	186					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ACGGTTCCATCATTTTCAATG	0.413000														30			7		0	0	0.001984	0	0
ING3	54556	broad.mit.edu	37	7	120590817	120590817	+	Splice_Site	SNP	T	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542000														9			4		0	0	0.009096	0	0
FREM1	158326	broad.mit.edu	37	9	14859389	14859389	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr9:14859389C>T	uc003zlm.3	-	4	1239	c.423G>A	c.(421-423)gtG>gtA	p.V141V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	141					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCACCTCCAGCACATTGTTAC	0.428000														85			43		0	0	0.010771	0	0
MLL3	58508	broad.mit.edu	37	7	151962163	151962163	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:151962163C>T	uc003wla.3	-	7	1363	c.1144G>A	c.(1144-1146)Ggt>Agt	p.G382S		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	382					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CATTGCCAACCTGCACGTTTT	0.443000			N		medulloblastoma									223			9		0	0	0.010729	0	0
KIAA1109	84162	broad.mit.edu	37	4	123132086	123132086	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:123132086C>T	uc003ieh.3	+	17	2128	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*	KIAA1109_uc003iei.1_Nonsense_Mutation_p.Q449*|KIAA1109_uc010ins.1_Nonsense_Mutation_p.Q39*|KIAA1109_uc003iej.1_Nonsense_Mutation_p.Q80*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	695					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGGCCATCCCAGAAGACATC	0.398000														30			9		0	0	0.004482	0	0
AK092965	0	broad.mit.edu	37	17	40468734	40468734	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:40468734G>A	uc010cyf.1	-	0	136	c.112C>T	c.(112-114)Cac>Tac	p.H38Y	STAT3_uc002hzk.1_Intron|STAT3_uc002hzl.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron|STAT3_uc021txs.1_5'Flank					Homo sapiens cDNA FLJ35646 fis, clone SPLEN2012743.																		CTCTCGGTGTGTACATGTGAG	0.468000														10			4		0	0	0.009096	0	0
SLC24A6	80024	broad.mit.edu	37	12	113748108	113748108	+	Silent	SNP	G	A	A	rs138371135		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:113748108G>A	uc001tvc.3	-	11	1398	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	SLC24A6_uc001tuz.3_Silent_p.I101I|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.I134I	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	396					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	p.I396I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CTGTGCCTGCGATCACCACCA	0.587000														58			24		0	0	0.003954	0	0
FGF19	9965	broad.mit.edu	37	11	69514100	69514100	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:69514100G>A	uc001opf.3	-	2	1043	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_005117	NP_005108	O95750	FGF19_HUMAN	Homo sapiens fibroblast growth factor 19 (FGF19), mRNA.	194					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of ERK1 and ERK2 cascade|positive regulation of JNK cascade|positive regulation of cell proliferation|positive regulation of glucose import	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CATGCTGTCGGTCTCCAGGGG	0.592000														38			24		0	0	0.002780	0	0
ROS1	6098	broad.mit.edu	37	6	117683825	117683825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:117683825G>A	uc003pxp.1	-	20	3521	c.3322C>T	c.(3322-3324)Ccc>Tcc	p.P1108S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1108	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCACTGAGGGAGTGACATTG	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									19			12		0	0	0.010729	0	0
OR4K17	390436	broad.mit.edu	37	14	20586324	20586324	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:20586324C>T	uc001vwo.1	+	0	759	c.759C>T	c.(757-759)ctC>ctT	p.L253L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTCTGATCCTCATAACCATTA	0.423000														77			20		0	0	0.008871	0	0
LAMB4	22798	broad.mit.edu	37	7	107703417	107703417	+	Silent	SNP	G	A	A	rs151001135	by1000genomes	TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:107703417G>A	uc010ljo.1	-	22	3168	c.3084C>T	c.(3082-3084)ggC>ggT	p.G1028G	LAMB4_uc003vey.2_Silent_p.G1028G|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1028	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGGGACTCACGCCGGAAGCAT	0.517000														22			14		0	0	0.004007	0	0
DNAH2	146754	broad.mit.edu	37	17	7710496	7710496	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:7710496C>T	uc002giu.1	+	60	9485	c.9471C>T	c.(9469-9471)atC>atT	p.I3157I	DNAH2_uc010cnm.1_Silent_p.I95I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3157	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTCACTGATCAACTTTGATA	0.498000														128			32		0	0	0.010818	0	0
CCDC40	55036	broad.mit.edu	37	17	78063627	78063627	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:78063627T>C	uc010dht.3	+	16	2807	c.2776T>C	c.(2776-2778)Tcc>Ccc	p.S926P	CCDC40_uc021uem.1_Missense_Mutation_p.S926P|CCDC40_uc002jxm.4_Missense_Mutation_p.S709P|CCDC40_uc002jxn.4_Missense_Mutation_p.S322P	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	926					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)			CTCAGTGGATTCCGAGATCGG	0.547000														30			8		0	0	0.003080	0	0
RBL1	5933	broad.mit.edu	37	20	35690648	35690648	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:35690648C>G	uc002xgi.3	-	7	1001	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	RBL1_uc002xgj.1_Missense_Mutation_p.E308Q|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	308					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGAACATACTCTTCATACTCC	0.373000														26			13		0	0	0.002450	0	0
EEF1D	1936	broad.mit.edu	37	8	144671343	144671343	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:144671343G>A	uc003yyq.2	-	0	1288	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	EEF1D_uc003yyp.2_Silent_p.P303P|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.P303P|EEF1D_uc003yyr.3_Silent_p.P303P|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGTAACAGTAGGGCAAGGCAG	0.716000														37			12		0	0	0.010729	0	0
BSND	7809	broad.mit.edu	37	1	55465016	55465016	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:55465016A>C	uc001cye.3	+	0	400	c.157A>C	c.(157-159)Atg>Ctg	p.M53L		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	53						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CATCTGGAGCATGTGCCAGTG	0.632000														47			17		0	0	0.007413	0	0
WFDC8	90199	broad.mit.edu	37	20	44190781	44190781	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:44190781C>T	uc002xow.3	-	1	183	c.104G>A	c.(103-105)tGg>tAg	p.W35*	WFDC8_uc002xox.3_Nonsense_Mutation_p.W35*|5S_rRNA_uc021wek.1_5'Flank	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	35						extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TGCAGAAGTCCACTCCAAAGC	0.478000														31			8		0	0	0.006214	0	0
CR1	1378	broad.mit.edu	37	1	207737264	207737264	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:207737264C>A	uc001hfy.3	+	13	2432	c.2292C>A	c.(2290-2292)gaC>gaA	p.D764E	CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.D1214E|CR1_uc021pij.1_Missense_Mutation_p.D764E|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	764	Sushi 12.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGGACAAGGACAACTTTTCAC	0.547000														96			12		0.00152264	0.00160978	0.010504	1	0
MXRA5	25878	broad.mit.edu	37	X	3238689	3238689	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:3238689G>A	uc004crg.4	-	4	5194	c.5037C>T	c.(5035-5037)tcC>tcT	p.S1679S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1679						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCTGGGTTTGGACATGTGCA	0.418000														63			69		0	0	0.014410	0	0
C16orf46	123775	broad.mit.edu	37	16	81095571	81095571	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:81095571C>T	uc002fgc.4	-	3	642	c.383G>A	c.(382-384)aGc>aAc	p.S128N	C16orf46_uc010chf.3_Missense_Mutation_p.S128N|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	128										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GGAGGGGCTGCTCTGATCCTT	0.602000														103			41		0	0	0.006230	0	0
GNPAT	8443	broad.mit.edu	37	1	231402070	231402070	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:231402070C>T	uc001hup.4	+	7	1178	c.972C>T	c.(970-972)atC>atT	p.I324I	GNPAT_uc009xfp.3_Silent_p.I263I	NM_014236	NP_055051	O15228	GNPAT_HUMAN	Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.	324					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTGGAAGCATCCATGTGTACT	0.428000														44			23		0	0	0.002780	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830709	7830709	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:7830709G>A	uc010dvt.3	+	3	518	c.400G>A	c.(400-402)Gag>Aag	p.E134K	CLEC4M_uc010xjv.1_Missense_Mutation_p.E106K|CLEC4M_uc002mhy.2_Missense_Mutation_p.E78K|CLEC4M_uc002mih.3_Intron|CLEC4M_uc010xjw.2_Missense_Mutation_p.E113K|CLEC4M_uc010dvs.3_Intron|CLEC4M_uc010xjx.2_Intron|CLEC4M_uc002mhz.3_Missense_Mutation_p.E134K|CLEC4M_uc002mic.3_Missense_Mutation_p.E106K|CLEC4M_uc002mia.3_Missense_Mutation_p.E113K	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	134	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAAGCTGCAGGAGATCTACCA	0.577000														82			26		0	0	0.004878	0	0
DSE	29940	broad.mit.edu	37	6	116757091	116757091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:116757091C>T	uc011ebg.2	+	5	1616	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	DSE_uc003pws.3_Missense_Mutation_p.S487F|DSE_uc003pwt.3_Missense_Mutation_p.S487F|DSE_uc003pwu.3_Missense_Mutation_p.S154F	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	487					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGATGTTTTCCCCAGCTGTG	0.453000														55			11		0	0	0.010729	0	0
ASXL3	80816	broad.mit.edu	37	18	31324785	31324785	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr18:31324785G>A	uc010dmg.1	+	11	5028	c.4973G>A	c.(4972-4974)aGg>aAg	p.R1658K	ASXL3_uc002kxq.2_Missense_Mutation_p.R1365K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1658					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						CTTCATCCCAGGAATCTTGTA	0.433000														61			12		0	0	0.010729	0	0
IFIT3	3437	broad.mit.edu	37	10	91099144	91099144	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:91099144C>T	uc001kgf.3	+	1	961	c.732C>T	c.(730-732)ctC>ctT	p.L244L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron|IFIT3_uc001kgg.3_Silent_p.L244L	NM_001549	NP_001540	O14879	IFIT3_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 3 (IFIT3), transcript variant 1, mRNA.	244					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CAGATGTCCTCCGCAGTGCAG	0.443000														23			14		0	0	0.003163	0	0
ZBTB46	140685	broad.mit.edu	37	20	62384102	62384102	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:62384102G>A	uc002ygv.2	-	3	1536	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGCAGGGGTAGGGCCGCTCTC	0.652000														20			12		0	0	0.013537	0	0
GPR98	84059	broad.mit.edu	37	5	90046440	90046440	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:90046440G>A	uc003kju.3	+	52	11143	c.11047G>A	c.(11047-11049)Gga>Aga	p.G3683R	GPR98_uc003kjt.3_Missense_Mutation_p.G1389R|GPR98_uc003kjv.3_Missense_Mutation_p.G1283R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3683					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACGCTTAAAAGGAACATATGG	0.363000														86			47		0	0	0.014410	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72027980	72027980	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:72027980A>G	uc001swo.2	-	11	2824	c.2465T>C	c.(2464-2466)gTt>gCt	p.V822A		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	822					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGCTTAGTAACCATTGCTAT	0.378000														40			9		0	0	0.004482	0	0
RPTOR	57521	broad.mit.edu	37	17	78867523	78867523	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:78867523G>A	uc002jyt.1	+	19	3064	c.2259G>A	c.(2257-2259)gcG>gcA	p.A753A	RPTOR_uc010wug.1_Silent_p.A595A	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	753					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCGCGGTGGCGTTCTCCCCCG	0.607000														38			21		0	0	0.008871	0	0
VWA7	80737	broad.mit.edu	37	6	31735259	31735259	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:31735259G>A	uc011dog.2	-	11	1907	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	VWA7_uc003nxd.2_Missense_Mutation_p.P232S	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	557						extracellular region											TGACCTAGAGGACCCCCGCCT	0.582000														232			93		0	0	0.014410	0	0
TMTC2	160335	broad.mit.edu	37	12	83251132	83251132	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:83251132G>T	uc001szt.3	+	1	859	c.427G>T	c.(427-429)Ggg>Tgg	p.G143W	TMTC2_uc001szr.1_Missense_Mutation_p.G143W|TMTC2_uc001szs.1_Missense_Mutation_p.G143W|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	143						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGCCGATGTCGGGGCCAGTCT	0.547000														27			11		2.27731e-05	2.41491e-05	0.012319	1	0
ZNF226	7769	broad.mit.edu	37	19	44680393	44680393	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:44680393G>A	uc002oys.3	+	5	1158	c.978G>A	c.(976-978)caG>caA	p.Q326Q	ZNF226_uc002oyp.3_Silent_p.Q326Q|ZNF226_uc002oyq.3_Silent_p.Q209Q|ZNF226_uc002oyr.3_Silent_p.Q209Q|ZNF226_uc002oyt.3_Silent_p.Q326Q	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGACCCATCAGAAAGTCCACG	0.438000														53			10		0	0	0.008291	0	0
SPTB	6710	broad.mit.edu	37	14	65239370	65239370	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:65239370G>A	uc001xht.3	-	24	5532	c.5481C>T	c.(5479-5481)gaC>gaT	p.D1827D	SPTB_uc001xhr.3_Silent_p.D1827D|SPTB_uc001xhs.3_Silent_p.D1827D|SPTB_uc001xhu.3_Silent_p.D1827D|SPTB_uc010aqi.3_Silent_p.D488D	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1827					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCGTGCTGGCGTCCAGCCCCA	0.682000														75			24		0	0	0.006320	0	0
CHD6	84181	broad.mit.edu	37	20	40033911	40033911	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:40033911G>A	uc002xka.1	-	36	7648	c.7470C>T	c.(7468-7470)atC>atT	p.I2490I	CHD6_uc002xjz.1_Silent_p.I27I	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2490					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin 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)				CGGTGAGGGGGATGCCTGGCA	0.557000														68			18		0	0	0.007413	0	0
ZNF229	7772	broad.mit.edu	37	19	44933324	44933324	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:44933324G>A	uc002oze.1	-	5	2066	c.1632C>T	c.(1630-1632)ccC>ccT	p.P544P	ZNF229_uc010ejk.1_Silent_p.P198P|ZNF229_uc010ejl.1_Silent_p.P538P	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CGCATTTGTAGGGTTTCTCTC	0.512000														75			24		0	0	0.014323	0	0
ZNF438	220929	broad.mit.edu	37	10	31138347	31138347	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:31138347T>C	uc010qdz.2	-	6	1422	c.987A>G	c.(985-987)atA>atG	p.I329M	ZNF438_uc001ivn.3_Missense_Mutation_p.I280M|ZNF438_uc010qdy.2_Missense_Mutation_p.I319M|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Missense_Mutation_p.I329M|ZNF438_uc001ivp.4_Missense_Mutation_p.I319M|ZNF438_uc010qea.2_Missense_Mutation_p.I329M|ZNF438_uc010qeb.2_Missense_Mutation_p.I329M|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGGTGGAGGGTATCTTATCAC	0.463000														25			21		0	0	0.010504	0	0
CREBBP	1387	broad.mit.edu	37	16	3828061	3828061	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:3828061C>T	uc002cvv.3	-	9	2268	c.2064G>A	c.(2062-2064)ccG>ccA	p.P688P	CREBBP_uc002cvw.3_Silent_p.P650P	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	688					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.P688A(2)|p.A690fs*5(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGAGCCCCCGGGGCTGGTA	0.483000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							156			60		0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237791232	237791232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:237791232C>T	uc001hyl.1	+	40	6412	c.6292C>T	c.(6292-6294)Ctt>Ttt	p.L2098F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2098	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATTGGGGGTCTTGTTCGGGC	0.572000														47			11		0	0	0.008291	0	0
MARCO	8685	broad.mit.edu	37	2	119749416	119749416	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:119749416G>A	uc002tln.1	+	13	1304	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	MARCO_uc010yyf.1_Missense_Mutation_p.G313E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	391	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGCCCCTGGACAAGCTGGC	0.582000														26			5		0	0	0.000602	0	0
ARNTL	406	broad.mit.edu	37	11	13393916	13393916	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:13393916C>G	uc001mkr.3	+	12	1435	c.1027C>G	c.(1027-1029)Cgg>Ggg	p.R343G	ARNTL_uc001mko.3_Missense_Mutation_p.R299G|ARNTL_uc001mkp.3_Missense_Mutation_p.R342G|ARNTL_uc001mkq.3_Missense_Mutation_p.R342G|ARNTL_uc001mks.3_Missense_Mutation_p.R300G|ARNTL_uc001mkt.3_Missense_Mutation_p.R343G|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Missense_Mutation_p.R300G|ARNTL_uc001mkw.3_Missense_Mutation_p.R300G|ARNTL_uc001mkx.3_Missense_Mutation_p.R341G	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	343	PAS 2.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.H343H(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		ATATGTTTCTCGGCACGCGAT	0.443000														47			18		0	0	0.007413	0	0
abParts	0	broad.mit.edu	37	14	106237751	106237751	+	RNA	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:106237751G>A	uc001ysh.1	-	0		c.1363C>T			abParts_uc021ser.1_Splice_Site|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|abParts_uc001ysi.1_Non-coding_Transcript					Homo sapiens mRNA for FLJ00385 protein.																		AGCTGCAAGAGAGATGGCGCC	0.677000														42			15		0	0	0.004990	0	0
OR4P4	81300	broad.mit.edu	37	11	55406375	55406375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:55406375C>T	uc010rij.2	+	0	542	c.542C>T	c.(541-543)cCt>cTt	p.P181L		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181P(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATGTGTATCCTTTGCTGAAA	0.388000														52			7		0	0	0.001984	0	0
NFIX	4784	broad.mit.edu	37	19	13136228	13136228	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:13136228C>T	uc010xmx.2	+	1	498	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	NFIX_uc002mwd.3_Missense_Mutation_p.P141S|NFIX_uc002mwe.3_Missense_Mutation_p.P133S|NFIX_uc002mwf.3_Missense_Mutation_p.P144S|NFIX_uc002mwg.2_Missense_Mutation_p.P140S			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	141					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TAAGGGGATCCCCCTGGAAAG	0.587000														32			9		0	0	0.006214	0	0
VPS13B	157680	broad.mit.edu	37	8	100789097	100789097	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:100789097C>T	uc003yiv.3	+	40	7528	c.7417C>T	c.(7417-7419)Cca>Tca	p.P2473S	VPS13B_uc003yiw.3_Missense_Mutation_p.P2448S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2473					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGCTTTACCCCATGGTTTGT	0.483000														99			33		0	0	0.013726	0	0
TBX21	30009	broad.mit.edu	37	17	45822322	45822322	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:45822322C>T	uc002ilv.1	+	5	1409	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	400					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R400*(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCTGAGTTTCGAGCAGTCAG	0.652000														76			26		0	0	0.004656	0	0
UGT2B15	7366	broad.mit.edu	37	4	69533889	69533889	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:69533889A>G	uc021xow.1	-	1	900	c.742T>C	c.(742-744)Ttt>Ctt	p.F248L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	248					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATTGTCTCAAATAATGTAGTG	0.373000														65			22		0	0	0.006320	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48599398	48599398	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:48599398G>A	uc010wmr.2	+	9	1504	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	411					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCTGTTCTGTGGGAAGCCAGC	0.537000														53			28		0	0	0.009535	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854245	12854245	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:12854245G>A	uc001auj.2	+	2	572	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	157										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCAAGGAAATACCCCA	0.493000														282			55		0	0	0.014410	0	0
CLDN6	9074	broad.mit.edu	37	16	3065388	3065388	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:3065388G>A	uc021tbb.1	-	0	635	c.635C>T	c.(634-636)tCt>tTt	p.S212F	CLDN6_uc002csu.4_Missense_Mutation_p.S212F	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	212					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGGGTACTCAGAGGGCCCCCG	0.632000														87			24		0	0	0.004656	0	0
SRCIN1	80725	broad.mit.edu	37	17	36704930	36704930	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:36704930C>T	uc002hqd.3	-	16	3358	c.3133G>A	c.(3133-3135)Gag>Aag	p.E1045K	SRCIN1_uc002hqf.1_Missense_Mutation_p.E917K|SRCIN1_uc002hqe.2_Missense_Mutation_p.E899K	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	917					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ACCTCCAGCTCCTCGGACTCA	0.667000														26			7		0	0	0.001984	0	0
PAF1	54623	broad.mit.edu	37	19	39876822	39876822	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:39876822C>A	uc002old.3	-	13	1580	c.1405G>T	c.(1405-1407)Gag>Tag	p.E469*	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Missense_Mutation_p.M397I	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	469					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTCTGTCCTCATCATCAGAG	0.617000														127			43		3.66854e-30	3.96203e-30	0.007835	1	0
NPC1L1	29881	broad.mit.edu	37	7	44574088	44574088	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:44574088G>A	uc003tlb.3	-	5	2180	c.2124C>T	c.(2122-2124)tcC>tcT	p.S708S	NPC1L1_uc011kbw.2_Silent_p.S708S|NPC1L1_uc003tlc.3_Silent_p.S708S|NPC1L1_uc003tld.3_Silent_p.S708S	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	708	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.S708S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGCCCCCACGGACAGCACCA	0.562000											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		80			28		0	0	0.006320	0	0
IRX1	79192	broad.mit.edu	37	5	3599720	3599720	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:3599720G>A	uc003jde.3	+	1	710	c.658G>A	c.(658-660)Gac>Aac	p.D220N		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCCGAGGACGACGAGGAGAT	0.617000														31			16		0	0	0.004007	0	0
ODZ1	10178	broad.mit.edu	37	X	123871026	123871026	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:123871026T>C	uc010nqy.3	-	3	621	c.557A>G	c.(556-558)aAc>aGc	p.N186S	ODZ1_uc011muj.2_Missense_Mutation_p.N186S|ODZ1_uc004euj.3_Missense_Mutation_p.N186S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	186	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GGTGAACTGGTTGTGTGGGCT	0.552000														16			11		0	0	0.008291	0	0
SUGP2	10147	broad.mit.edu	37	19	19114993	19114993	+	Silent	SNP	G	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:19114993G>T	uc002nkz.1	-	6	2975	c.2955C>A	c.(2953-2955)ctC>ctA	p.L985L	SUGP2_uc002nkx.2_Silent_p.L971L|SUGP2_uc002nla.1_Silent_p.L971L|SUGP2_uc002nlb.2_Silent_p.L971L|SUGP2_uc010xqk.1_Silent_p.L740L	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	971					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCTCCTGGATGAGACACACTC	0.552000														73			17		1.45105e-14	1.54808e-14	0.006122	1	0
ACTRT1	139741	broad.mit.edu	37	X	127186130	127186130	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:127186130C>T	uc004eum.3	-	0	253	c.56G>A	c.(55-57)gGa>gAa	p.G19E		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	19						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TTTGCAGAGTCCTGAACCATT	0.428000														14			13		0	0	0.003163	0	0
NNT	23530	broad.mit.edu	37	5	43656142	43656142	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:43656142A>C	uc003joe.3	+	14	2515	c.2260A>C	c.(2260-2262)Agt>Cgt	p.S754R	NNT_uc003jof.3_Missense_Mutation_p.S754R	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	754					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CGTCACCTTTAGTGGGTCTCT	0.413000														49			20		0	0	0.014323	0	0
CHMP7	91782	broad.mit.edu	37	8	23117720	23117720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:23117720C>T	uc003xdc.2	+	9	1832	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	CHMP7_uc003xdd.2_Missense_Mutation_p.P285L|CHMP7_uc003xde.2_Missense_Mutation_p.L233F	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	395					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACCAAAGAACCTTTGGATCTG	0.438000														74			16		0	0	0.007413	0	0
ITGA5	3678	broad.mit.edu	37	12	54799035	54799035	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:54799035G>A	uc001sga.3	-	11	1208	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	380					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						TGAGGGTAAGGGTGGGCGTGG	0.642000														74			28		0	0	0.004656	0	0
NAA25	80018	broad.mit.edu	37	12	112499075	112499075	+	Silent	SNP	A	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:112499075A>G	uc001ttm.3	-	11	1325	c.1267T>C	c.(1267-1269)Tta>Cta	p.L423L	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.L395L|NAA25_uc009zwa.2_Silent_p.L423L	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	423						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAGCCAAGTAACCTCGTCAGC	0.473000														28			15		0	0	0.002450	0	0
CACNB4	785	broad.mit.edu	37	2	152698602	152698602	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:152698602C>T	uc002tya.3	-	13	1185	c.1117_splice	c.e13-1	p.E373_splice	CACNB4_uc002txy.3_Splice_Site_p.E339_splice|CACNB4_uc002txz.3_Splice_Site_p.E355_splice|CACNB4_uc010fnz.3_Intron	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	373					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TCAAACATTTCCTGTAGATGA	0.388000														21			9		0	0	0.006214	0	0
DRD5	1816	broad.mit.edu	37	4	9784435	9784435	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:9784435C>T	uc003gmb.4	+	0	1178	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	261					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGGATTTCCTCCCTGGAGAGG	0.627000														44			17		0	0	0.004007	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000														9			3		0	0	0.004672	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860873	38860873	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:38860873C>T	uc002oih.4	+	27	3275	c.3188C>T	c.(3187-3189)cCc>cTc	p.P1063L	CATSPERG_uc002oig.4_Missense_Mutation_p.P1023L|CATSPERG_uc002oif.4_Missense_Mutation_p.P703L|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1063					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCACTCAGTCCCAAGCGGGCC	0.607000														32			6		0	0	0.001168	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626557	1626557	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:1626557G>A	uc003wpl.3	+	8	2323	c.2226G>A	c.(2224-2226)cgG>cgA	p.R742R	DLGAP2_uc003wpm.3_Silent_p.R728R	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	821					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAACTGTACGGACCCAGGGGC	0.632000														37			11		0	0	0.008291	0	0
TMEM102	284114	broad.mit.edu	37	17	7339603	7339604	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:7339603_7339604GG>AA	uc002ggx.1	+	2	578_579	c.305_306GG>AA	c.(304-306)ggg>gAA	p.G102E	SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Missense_Mutation_p.G102E	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	Homo sapiens transmembrane protein 102 (TMEM102), mRNA.	102					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CTGGATCTGGGGCATGCACCCC	0.609000														56			16		0	0	0.004672	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880973	70880973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:70880973C>T	uc003tvy.3	+	3	688	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	230	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R230H(1)|p.R230L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GATCCGCGCTCGCATTGAGGG	0.577000														64			15		0	0	0.003163	0	0
OR4N5	390437	broad.mit.edu	37	14	20612314	20612314	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:20612314C>T	uc010tla.2	+	0	420	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACCCTAGAGCCTGCTATGCAT	0.512000														172			37		0	0	0.006999	0	0
CNNM4	26504	broad.mit.edu	37	2	97428012	97428012	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:97428012G>A	uc002swx.3	+	0	1374	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	426	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACGTCAAAGACTTGGCCTT	0.498000														88			31		0	0	0.004878	0	0
MC2R	4158	broad.mit.edu	37	18	13884885	13884885	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr18:13884885G>A	uc002ksp.1	-	1	810	c.633C>T	c.(631-633)ccC>ccT	p.P211P	MC2R_uc021uhs.1_Silent_p.P211P	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	211					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTTGGCTCTGGGGAGGGTGG	0.557000														42			12		0	0	0.010729	0	0
MAG	4099	broad.mit.edu	37	19	35801452	35801452	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:35801452C>T	uc002nyy.2	+	8	1720	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*	MAG_uc002nyx.2_Nonsense_Mutation_p.R508*|MAG_uc010eds.2_Nonsense_Mutation_p.R483*|MAG_uc002nyz.2_Nonsense_Mutation_p.R508*	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	508	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)			GTCCTCAGATCGACTGATGTG	0.562000														44			12		0	0	0.010729	0	0
REG1P	5969	broad.mit.edu	37	2	79363984	79363984	+	RNA	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:79363984C>T	uc002soa.1	-	3		c.330G>A			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		ATCAGCGAAGCCACAAAGGCA	0.512000														37			7		0	0	0.001984	0	0
FAM75D1	389763	broad.mit.edu	37	9	84603755	84603755	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr9:84603755C>G	uc004amn.3	+	0	69	c.22C>G	c.(22-24)Ctg>Gtg	p.L8V		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	8						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CCTCTGTTTTCTGAACAGCTA	0.493000														62			11		0	0	0.013537	0	0
MICALL2	79778	broad.mit.edu	37	7	1482004	1482004	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:1482004G>A	uc003skj.4	-	6	1682	c.1535C>T	c.(1534-1536)tCg>tTg	p.S512L	MICALL2_uc003ski.4_5'UTR	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	512						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTCCATCCTCGAAGGGAGGCC	0.632000														161			60		0	0	0.014410	0	0
IL4R	3566	broad.mit.edu	37	16	27374945	27374945	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:27374945C>T	uc002don.3	+	10	2514	c.2272C>T	c.(2272-2274)Ccc>Tcc	p.P758S	IL4R_uc002dop.4_Missense_Mutation_p.P743S|IL4R_uc010bxy.3_Missense_Mutation_p.P758S|IL4R_uc002doo.3_Missense_Mutation_p.P598S	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	758					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCCTACAACCCCCCTGAGGGC	0.637000														37			21		0	0	0.008871	0	0
PDILT	204474	broad.mit.edu	37	16	20380984	20380984	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:20380984C>T	uc002dhc.1	-	7	1169	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	316					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.E316K(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTCTGGGTTCGTCTGCATCC	0.473000														66			24		0	0	0.003330	0	0
NDN	4692	broad.mit.edu	37	15	23931648	23931648	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:23931648G>A	uc001ywk.3	-	0	803	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	239	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.F239L(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCATTTGGACGAACTCCTCAG	0.607000									Prader-Willi syndrome					47			9		0	0	0.006214	0	0
DSCAML1	57453	broad.mit.edu	37	11	117335778	117335778	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:117335778C>T	uc001prh.1	-	16	3327	c.3325G>A	c.(3325-3327)Gag>Aag	p.E1109K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1049	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGTAGACCTCGCTGTCCCCC	0.607000														96			43		0	0	0.011902	0	0
FAM5C	339479	broad.mit.edu	37	1	190129815	190129815	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:190129815G>A	uc001gse.1	-	6	1399	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	FAM5C_uc010pot.1_Silent_p.I287I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	389						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)					TTGGCAGGCTGATGAGGGGTT	0.378000														77			13		0	0	0.003163	0	0
OR5P3	120066	broad.mit.edu	37	11	7846870	7846870	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:7846870G>A	uc010rbg.2	-	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATAGATGTAGGATATGGCTAT	0.473000														48			19		0	0	0.010504	0	0
WFDC8	90199	broad.mit.edu	37	20	44181907	44181907	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:44181907C>T	uc002xow.3	-	4	533	c.454G>A	c.(454-456)Gga>Aga	p.G152R	WFDC8_uc002xox.3_Missense_Mutation_p.G152R	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	152	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGGCATTGTCCATCCTTAACT	0.468000														30			7		0	0	0.004482	0	0
C7orf62	219557	broad.mit.edu	37	7	88423585	88423585	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:88423585C>T	uc003ujv.3	-	1	854	c.672G>A	c.(670-672)atG>atA	p.M224I	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.M224I	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	224										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGCCGGGTCCATGAATTCTT	0.443000														56			13		0	0	0.013537	0	0
CMA1	1215	broad.mit.edu	37	14	24976699	24976699	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:24976699C>T	uc001wpp.1	-	1	102	c.72G>A	c.(70-72)ggG>ggA	p.G24G	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	24	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.G24W(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATTCTGTGCCCCCGATGATCT	0.493000														100			30		0	0	0.008361	0	0
LAMA4	3910	broad.mit.edu	37	6	112460492	112460492	+	Splice_Site	SNP	C	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:112460492C>A	uc003pvu.2	-	24	3420	c.3111_splice	c.e24-1	p.R1037_splice	LAMA4_uc003pvv.2_Splice_Site_p.R1030_splice|LAMA4_uc003pvt.2_Splice_Site_p.R1030_splice	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1037					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCAGCTTATCTCTGAAATGG	0.458000														65			21		1.01871e-10	1.08354e-10	0.008871	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6051554	6051554	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:6051554C>T	uc010idb.1	-	14	2440	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	JAKMIP1_uc010idc.1_Missense_Mutation_p.D467N|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	425					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCCCGTTATCGCCAAGGATA	0.378000														30			11		0	0	0.010729	0	0
WDR62	284403	broad.mit.edu	37	19	36577616	36577617	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:36577616_36577617GG>AA	uc002odd.2	+	12	1761_1762	c.1670_1671GG>AA	c.(1669-1671)cgg>cAA	p.R557Q	WDR62_uc002odc.2_Missense_Mutation_p.R557Q	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	557					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAGCCAGTCGGGACCGGCTGA	0.599000														14			4		0	0	0.004672	0	0
KIAA0913	23053	broad.mit.edu	37	10	75560500	75560500	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:75560500G>A	uc001jvj.3	+	23	5345	c.5090G>A	c.(5089-5091)gGg>gAg	p.G1697E	KIAA0913_uc001jve.3_Missense_Mutation_p.G1710E|KIAA0913_uc009xrl.3_Missense_Mutation_p.G1705E|KIAA0913_uc001jvf.3_Missense_Mutation_p.G1523E|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.G1132E|KIAA0913_uc010qkr.2_Missense_Mutation_p.G1120E|KIAA0913_uc009xrn.2_Missense_Mutation_p.G116E	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1705							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					TGGTTGCTGGGGCTGGCAGCA	0.612000														21			15		0	0	0.004007	0	0
TTI1	9675	broad.mit.edu	37	20	36642137	36642137	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:36642137C>G	uc002xhl.3	-	2	291	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	TTI1_uc002xhm.3_Missense_Mutation_p.E28Q	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	28							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCCACATTCTCCACTGTCTGG	0.512000														101			34		0	0	0.003755	0	0
EPHA4	2043	broad.mit.edu	37	2	222308288	222308288	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:222308288G>A	uc002vmq.3	-	9	1855	c.1813C>T	c.(1813-1815)Ccc>Tcc	p.P605S	EPHA4_uc002vmr.2_Missense_Mutation_p.P605S|EPHA4_uc010zlm.1_Missense_Mutation_p.P546S	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	605						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCTTGGTTGGGATCTTCGTAC	0.398000														44			13		0	0	0.003163	0	0
BRDT	676	broad.mit.edu	37	1	92445135	92445135	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:92445135G>A	uc001dol.4	+	8	1526	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	BRDT_uc010osz.2_Missense_Mutation_p.E374K|BRDT_uc001dok.4_Missense_Mutation_p.E370K|BRDT_uc009wdf.3_Missense_Mutation_p.E297K|BRDT_uc010otb.2_Missense_Mutation_p.E324K|BRDT_uc010ota.2_Missense_Mutation_p.E324K|BRDT_uc001dom.4_Missense_Mutation_p.E370K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.F369F(1)		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)		GGATGTTTTCGAAACGCATTT	0.323000														23			7		0	0	0.001984	0	0
GP2	2813	broad.mit.edu	37	16	20335568	20335568	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:20335568G>A	uc002dgv.3	-	2	188	c.105C>T	c.(103-105)aaC>aaT	p.N35N	GP2_uc002dgw.3_Silent_p.N35N|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	35						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTTCAATGGGGTTTCCATAAC	0.522000														40			11		0	0	0.010729	0	0
CEP135	9662	broad.mit.edu	37	4	56886933	56886933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:56886933G>A	uc003hbi.3	+	23	3541	c.3307G>A	c.(3307-3309)Gaa>Aaa	p.E1103K	CEP135_uc003hbj.3_Missense_Mutation_p.E809K	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	1103					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding	p.E1103K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GATCTCAACTGAAAGATACGA	0.333000														52			35		0	0	0.003271	0	0
BMX	660	broad.mit.edu	37	X	15544165	15544165	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:15544165G>A	uc004cww.3	+	9	1019	c.831_splice	c.e9-1	p.W277_splice	BMX_uc004cwx.4_Splice_Site_p.W277_splice|BMX_uc004cwy.4_Splice_Site_p.W277_splice	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	277					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TCTTCTTAAGGGAATTCCCTG	0.388000														28			10		0	0	0.008291	0	0
GPLD1	2822	broad.mit.edu	37	6	24450108	24450108	+	Missense_Mutation	SNP	G	A	A	rs149093201		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:24450108G>A	uc003ned.1	-	14	1466	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	GPLD1_uc010jpr.1_Missense_Mutation_p.S289L|GPLD1_uc010jps.1_Missense_Mutation_p.S452L	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	452						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGCCAAGGCCGAGCCAAACCG	0.622000														52			19		0	0	0.008871	0	0
OR4C3	256144	broad.mit.edu	37	11	48346810	48346810	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:48346810C>T	uc010rhv.2	+	0	318	c.318C>T	c.(316-318)ctC>ctT	p.L106L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCCTAAACTCATTGCTGACT	0.463000														228			15		0	0	0.012319	0	0
MMP26	56547	broad.mit.edu	37	11	5013262	5013262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:5013262C>T	uc001lzv.3	+	4	682	c.664C>T	c.(664-666)Cag>Tag	p.Q222*		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	222					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCTGGGAATCAGAGCTCCAT	0.423000														35			7		0	0	0.003080	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23054697	23054697	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:23054697C>T	uc003xda.3	-	8	1141	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	345					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCCTCTGAGACCCTTCAGCTT	0.557000														76			30		0	0	0.009535	0	0
SPTBN4	57731	broad.mit.edu	37	19	41026059	41026059	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:41026059G>A	uc002ony.3	+	16	3740	c.3654_splice	c.e16+1	p.Q1218_splice	SPTBN4_uc002onx.3_Splice_Site_p.Q1218_splice|SPTBN4_uc002onz.3_Splice_Site_p.Q1218_splice|SPTBN4_uc010egx.3_Splice_Site	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1218					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGTAACCAGGTGCCCACTCG	0.677000														22			10		0	0	0.006214	0	0
MYH2	4620	broad.mit.edu	37	17	10436921	10436921	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:10436921G>A	uc010coi.3	-	19	2337	c.2209C>T	c.(2209-2211)Cct>Tct	p.P737S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P737S|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	737	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCCCTTCAGGGATTGCACTT	0.383000														60			15		0	0	0.002450	0	0
GOLGA8C	729786	broad.mit.edu	37	15	20777906	20777906	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:20777906A>C	uc010tzc.1	+	17	2162	c.1147A>C	c.(1147-1149)Agc>Cgc	p.S383R	DQ572979_uc001ytq.2_5'Flank					Homo sapiens golgin A8 family, member C (GOLGA8C), non-coding RNA.									p.V383V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|ovary(1)|skin(1)	8						CCTCACTGACAGCGTGGAGCC	0.637000														32			13		0	0	0.004007	0	0
EGLN3	112399	broad.mit.edu	37	14	34398386	34398386	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:34398386C>T	uc001wsa.4	-	2	836	c.510G>A	c.(508-510)gaG>gaA	p.E170E	EGLN3_uc001wry.3_Silent_p.E76E	NM_022073	NP_071356	Q9H6Z9	EGLN3_HUMAN	Homo sapiens egl nine homolog 3 (C. elegans) (EGLN3), mRNA.	170	Fe2OG dioxygenase.				apoptosis	cytoplasm|nucleus	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	ATGATTTCCCCTCTGGAAATA	0.453000														42			11		0	0	0.010729	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	199588	199588	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrGL000192.1:199588C>T	uc010yii.1	-	6	1053	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	1976										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTCCTCTTCCTCTAGGTAG	0.453000														59			6		0	0	0.004482	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412884	19412884	+	RNA	SNP	T	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr13:19412884T>C	uc010tcj.1	-	0		c.33226A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCAATATCTGTCTTCAAAATG	0.269000														68			4		0	0	0.001168	0	0
PDZD4	57595	broad.mit.edu	37	X	153073991	153073991	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:153073991G>A	uc004fja.1	-	1	370	c.120C>T	c.(118-120)tcC>tcT	p.S40S	PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fiz.1_Silent_p.S40S|PDZD4_uc004fix.2_5'UTR|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	40						cell cortex		p.R39C(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTTGGAGGAGCGCAGGG	0.637000														4			6		0	0	0.001168	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838463	155838463	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:155838463G>A	uc003far.2	+	0	127	c.63G>A	c.(61-63)agG>agA	p.R21R	KCNAB1_uc011bon.1_Silent_p.R21R	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	21						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.R20*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCAAGTTAAGGAGACAGTCTG	0.527000														118			43		0	0	0.008740	0	0
GFRAL	389400	broad.mit.edu	37	6	55216156	55216156	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:55216156G>A	uc003pcm.1	+	4	562	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	159						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCAGCAAATGGAAATCCGTGT	0.453000														141			60		0	0	0.014410	0	0
WEE2	494551	broad.mit.edu	37	7	141414188	141414188	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:141414188G>A	uc003vwn.2	+	1	928	c.522G>A	c.(520-522)agG>agA	p.R174R	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	174					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GTGGCAAGAGGAAAATAAGAG	0.383000														50			13		0	0	0.001855	0	0
KIAA0528	9847	broad.mit.edu	37	12	22609921	22609921	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:22609921G>A	uc010sit.2	-	25	3095	c.2867C>T	c.(2866-2868)aCt>aTt	p.T956I	KIAA0528_uc010sir.2_Missense_Mutation_p.T759I|KIAA0528_uc010sis.2_Missense_Mutation_p.T954I|KIAA0528_uc001rfq.3_Missense_Mutation_p.T903I|KIAA0528_uc010siu.2_Missense_Mutation_p.T954I|KIAA0528_uc001rfr.3_Missense_Mutation_p.T945I	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	903							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGAAGTAGTCTCTCGAAT	0.284000														19			7		0	0	0.003080	0	0
VWA5A	4013	broad.mit.edu	37	11	123993723	123993723	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:123993723G>A	uc001pzu.3	+	7	1026	c.817G>A	c.(817-819)Gat>Aat	p.D273N	VWA5A_uc001pzr.3_Missense_Mutation_p.D273N|VWA5A_uc001pzs.3_Missense_Mutation_p.D273N|VWA5A_uc010sae.2_Missense_Mutation_p.D289N|VWA5A_uc001pzt.3_Missense_Mutation_p.D273N	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	273										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TATCCCAGAAGATCAACCATC	0.443000														33			10		0	0	0.010729	0	0
FXYD3	5349	broad.mit.edu	37	19	35611987	35611987	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:35611987C>T	uc010xsm.2	+	5	494	c.217C>T	c.(217-219)Cct>Tct	p.P73S	FXYD3_uc010xsj.1_Missense_Mutation_p.P16S|FXYD3_uc010xsk.1_Missense_Mutation_p.P16S|FXYD3_uc010xsl.1_Missense_Mutation_p.P16S|FXYD3_uc010xsn.2_Missense_Mutation_p.P16S|FXYD3_uc002nxw.3_Missense_Mutation_p.P16S|FXYD3_uc002nxv.3_Missense_Mutation_p.P16S|FXYD3_uc010xso.2_Missense_Mutation_p.P16S	NM_001136007	NP_005962	Q14802	FXYD3_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 3 (FXYD3), transcript variant 3, mRNA.	16						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTAGGCTTTCCTGTCCTGGA	0.612000														39			16		0	0	0.004007	0	0
EFHD2	79180	broad.mit.edu	37	1	15752487	15752487	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:15752487C>T	uc001awh.2	+	1	506	c.429C>T	c.(427-429)gaC>gaT	p.D143D		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA.	143	EF-hand 2.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATGAGGACTTTGACAGCA	0.592000														58			12		0	0	0.010729	0	0
DNAH2	146754	broad.mit.edu	37	17	7720944	7720944	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:7720944C>T	uc002giu.1	+	64	10100	c.10086C>T	c.(10084-10086)acC>acT	p.T3362T	DNAH2_uc010cnm.1_Silent_p.T300T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3362	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAATCCTACCAAAGTCCGGG	0.547000														70			39		0	0	0.005524	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412918	19412918	+	RNA	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr13:19412918C>T	uc010tcj.1	-	0		c.33192G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TCAGATCTTTCATTTCTTCAT	0.274000														63			4		0	0	0.001168	0	0
GALNT5	11227	broad.mit.edu	37	2	158115963	158115963	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:158115963A>T	uc002tzg.3	+	0	1624	c.1369A>T	c.(1369-1371)Aga>Tga	p.R457*	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	457					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGAGGCAGAAAGAAGATGGAA	0.478000														56			13		0	0	0.013537	0	0
OR5P2	120065	broad.mit.edu	37	11	7818469	7818469	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:7818469C>T	uc001mfp.1	-	0	21	c.21G>A	c.(19-21)ggG>ggA	p.G7G		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	7			G -> R (in dbSNP:rs1482804).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGTGTGATTCCCGTCCTTCA	0.428000														41			8		0	0	0.003080	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405422	125405422	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:125405422C>T	uc010flu.3	+	12	2328	c.1964C>T	c.(1963-1965)gCc>gTc	p.A655V	CNTNAP5_uc002tno.3_Missense_Mutation_p.A654V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	654	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TATGCCATGGCCTTGGACTAC	0.612000														15			9		0	0	0.006214	0	0
CPA3	1359	broad.mit.edu	37	3	148586813	148586813	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:148586813A>G	uc003ewm.3	+	2	308	c.256A>G	c.(256-258)Aaa>Gaa	p.K86E		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	86					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GGATCAAAATAAAATGCACTA	0.413000														26			6		0	0	0.001168	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261270	1261270	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:1261270C>T	uc002cks.3	+	21	4574	c.4326C>T	c.(4324-4326)atC>atT	p.I1442I	CACNA1H_uc002ckt.3_Silent_p.I1442I|CACNA1H_uc002cku.3_Silent_p.I148I|CACNA1H_uc010brj.3_Silent_p.I148I|CACNA1H_uc002ckv.3_Silent_p.I148I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1442					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTTCTTCATCATTTTTGGCA	0.627000														130			34		0	0	0.004289	0	0
BTBD7	55727	broad.mit.edu	37	14	93712562	93712562	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:93712562C>T	uc001ybo.3	-	9	2518	c.2192G>A	c.(2191-2193)gGg>gAg	p.G731E	BTBD7_uc010aur.3_Missense_Mutation_p.G256E|BTBD7_uc010two.2_Missense_Mutation_p.G551E|BTBD7_uc001ybp.3_Missense_Mutation_p.G380E	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	731										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCGACATCTCCCAGGCTGTCT	0.443000														141			42		0	0	0.007835	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707690	75707690	+	Silent	SNP	T	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:75707690T>C	uc010oqz.1	-	7	711	c.645A>G	c.(643-645)aaA>aaG	p.K215K	SLC44A5_uc001dgt.2_Silent_p.K176K|SLC44A5_uc001dgs.2_Silent_p.K134K|SLC44A5_uc001dgr.2_Silent_p.K134K|SLC44A5_uc001dgu.3_Silent_p.K176K|SLC44A5_uc010ora.2_Silent_p.K170K|SLC44A5_uc010orb.2_Silent_p.K46K	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	176						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ACTTACAAGGTTTGCTGGGAA	0.378000														44			18		0	0	0.010504	0	0
SELP	6403	broad.mit.edu	37	1	169580798	169580798	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:169580798A>C	uc001ggi.4	-	6	1144	c.1079T>G	c.(1078-1080)gTg>gGg	p.V360G	SELP_uc001ggh.3_Missense_Mutation_p.V195G|SELP_uc009wvr.3_Missense_Mutation_p.V360G	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	360	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.R359T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAAGCCCCTCACTCTGTAGCC	0.537000														102			33		0	0	0.012213	0	0
SLC9C1	285335	broad.mit.edu	37	3	111918179	111918179	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:111918179C>T	uc003dyu.3	-	19	2734	c.2512G>A	c.(2512-2514)Gga>Aga	p.G838R	SLC9C1_uc011bhu.2_Missense_Mutation_p.G101R|SLC9C1_uc010hqc.3_Missense_Mutation_p.G790R	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	838					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTATTAATTCCAGCACCTTCA	0.308000														42			7		0	0	0.001984	0	0
MYO3A	53904	broad.mit.edu	37	10	26243817	26243817	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:26243817G>A	uc001isn.2	+	3	543	c.183G>A	c.(181-183)gaG>gaA	p.E61E	MYO3A_uc009xko.1_Silent_p.E61E|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.E61E|MYO3A_uc001ism.2_Silent_p.E61E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	61	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGACGAAGAGATTGAAGCAG	0.323000														49			28		0	0	0.006320	0	0
LY9	4063	broad.mit.edu	37	1	160788007	160788007	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:160788007G>A	uc001fwu.3	+	6	1393	c.1343_splice	c.e6-1	p.G448_splice	LY9_uc001fwv.3_Splice_Site_p.G448_splice|LY9_uc001fww.3_Splice_Site_p.R358_splice|LY9_uc001fwy.1_Splice_Site_p.R260_splice|LY9_uc001fwz.3_Splice_Site_p.G100_splice	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	448	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCTCCTCAAAGGACCTGAGAG	0.448000														45			6		0	0	0.001168	0	0
GPR126	57211	broad.mit.edu	37	6	142737023	142737023	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:142737023G>A	uc010khe.3	+	19	3171	c.2760G>A	c.(2758-2760)tgG>tgA	p.W920*	GPR126_uc010khc.3_Nonsense_Mutation_p.W920*|GPR126_uc010khd.3_Nonsense_Mutation_p.W892*|GPR126_uc010khf.3_Nonsense_Mutation_p.W892*	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	920					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TAGATGGCTGGATCACCTCCT	0.468000														121			35		0	0	0.013726	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688664	81688664	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:81688664G>A	uc001szo.2	-	23	3036	c.2875C>T	c.(2875-2877)Cag>Tag	p.Q959*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.Q885*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.Q860*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.Q959*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.Q959*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.Q944*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.Q959*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.Q526*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.Q176*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	885										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACCATCTCCTGGATTGCTAAT	0.473000														19			5		0	0	0.000602	0	0
BSN	8927	broad.mit.edu	37	3	49693943	49693943	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:49693943C>T	uc003cxe.4	+	4	7068	c.6954C>T	c.(6952-6954)gcC>gcT	p.A2318A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2318					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCCTGCTGCCATCAAGGAGG	0.687000														28			10		0	0	0.008291	0	0
DSC2	1824	broad.mit.edu	37	18	28648154	28648154	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr18:28648154C>T	uc002kwl.4	-	15	2987	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K	DSC2_uc002kwk.4_3'UTR	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	845					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTGTGATTTTCATCTTGATTA	0.363000														44			7		0	0	0.004482	0	0
GCOM1	145781	broad.mit.edu	37	15	57913864	57913864	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:57913864G>A	uc002aei.3	+	3	508	c.377G>A	c.(376-378)aGa>aAa	p.R126K	GCOM1_uc002aej.3_Missense_Mutation_p.R126K|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Missense_Mutation_p.R126K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R126K	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	126					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GATGAGATGAGACAGAAGATT	0.468000														95			33		0	0	0.003755	0	0
SYNJ2	8871	broad.mit.edu	37	6	158497657	158497657	+	Splice_Site	SNP	G	A	A	rs143612133		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:158497657G>A	uc003qqx.2	+	17	2399	c.2293_splice	c.e17-1	p.I765_splice	SYNJ2_uc003qqw.2_Splice_Site_p.I765_splice|SYNJ2_uc003qqy.2_Splice_Site_p.I528_splice|SYNJ2_uc003qqz.2_Splice_Site_p.I382_splice|SYNJ2_uc003qra.2_Splice_Site_p.I108_splice	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	765							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTCCCAATAGATTTTTAAGG	0.428000														53			18		0	0	0.007413	0	0
PTPRF	5792	broad.mit.edu	37	1	44057176	44057176	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:44057176G>A	uc001cjr.3	+	8	1823	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	PTPRF_uc001cjs.3_Missense_Mutation_p.G495S|PTPRF_uc001cju.3_Missense_Mutation_p.G66S|PTPRF_uc009vwt.3_Missense_Mutation_p.G66S|PTPRF_uc001cjv.3_Missense_Mutation_p.G66S	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	495	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACCGCCGTGGGCGATGGCCC	0.682000														18			3		0	0	0.004672	0	0
ADAD1	132612	broad.mit.edu	37	4	123301320	123301320	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:123301320G>A	uc003ieo.3	+	2	328	c.96G>A	c.(94-96)acG>acA	p.T32T	ADAD1_uc003iep.3_Silent_p.T32T|ADAD1_uc003ieq.3_Silent_p.T14T	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	32					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.K31K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGACAAAGACGATAACTACAC	0.468000														26			33		0	0	0.010818	0	0
GPR31	2853	broad.mit.edu	37	6	167570978	167570978	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:167570978G>A	uc011egq.2	-	0	342	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	114						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GGACCACACGGAGGTACCGGT	0.687000														30			8		0	0	0.003080	0	0
SSTR1	6751	broad.mit.edu	37	14	38678754	38678754	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:38678754G>A	uc021rsi.1	+	0	160	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	SSTR1_uc001wul.1_Missense_Mutation_p.G54S	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	54					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CTTGAGCGAGGGCCAGGGCAG	0.667000														29			12		0	0	0.010729	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192441	133192441	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:133192441C>T	uc003ytj.3	-	3	965	c.740G>A	c.(739-741)tGg>tAg	p.W247*	KCNQ3_uc003yti.3_Nonsense_Mutation_p.W127*|KCNQ3_uc010mdt.3_Nonsense_Mutation_p.W247*	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	247					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W247*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGAAGCTTCCAGGTGCCACC	0.597000														81			17		0	0	0.006122	0	0
NOSIP	51070	broad.mit.edu	37	19	50059050	50059050	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:50059050C>T	uc002pok.3	-	9	1016	c.864G>A	c.(862-864)gtG>gtA	p.V288V	NOSIP_uc002pol.3_Silent_p.V288V	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA.	288					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CTTGCAGCTTCACTCCGGAGC	0.647000														59			13		0	0	0.002450	0	0
ARID5A	10865	broad.mit.edu	37	2	97213176	97213176	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:97213176G>A	uc002swe.3	+	1	142	c.42G>A	c.(40-42)gaG>gaA	p.E14E	ARID5A_uc010yuq.2_5'UTR|ARID5A_uc002swf.3_5'UTR|ARID5A_uc002swg.3_5'UTR	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	14					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AGTCCACGGAGGGTGACGCCC	0.587000														33			13		0	0	0.003163	0	0
SLC16A3	9123	broad.mit.edu	37	17	80196837	80196837	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:80196837G>A	uc002kea.3	+	4	1533	c.1383G>A	c.(1381-1383)ccG>ccA	p.P461P	SLC16A3_uc021ufm.1_Silent_p.P461P|SLC16A3_uc002keb.3_Silent_p.P461P|SLC16A3_uc002kec.3_Silent_p.P461P|SLC16A3_uc002ked.3_Silent_p.P461P|SLC16A3_uc021ufn.1_Silent_p.P461P|SLC16A3_uc021ufo.1_Silent_p.P461P	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	461					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TTCACACCCCGGAAACAAGTG	0.587000														76			27		0	0	0.004656	0	0
OR6S1	341799	broad.mit.edu	37	14	21109703	21109703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:21109703C>T	uc001vxv.1	-	0	148	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GCCCTTACCACCCCCACAATC	0.463000														90			19		0	0	0.006122	0	0
DUOX2	50506	broad.mit.edu	37	15	45401086	45401086	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:45401086G>A	uc001zun.3	-	11	1502	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	DUOX2_uc010bea.3_Silent_p.G433G	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	433	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCATATCTCGGCCACGTTGGA	0.567000														65			30		0	0	0.009535	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917490	48917490	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:48917490G>A	uc002isv.4	+	1	1535	c.841G>A	c.(841-843)Gat>Aat	p.D281N	WFIKKN2_uc010dbu.3_Missense_Mutation_p.D188N	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	281	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAGCTGCAGGATGCTGGGAT	0.622000														40			21		0	0	0.012319	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140470	78140470	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:78140470C>G	uc001xuc.1	-	5	864	c.855G>C	c.(853-855)ttG>ttC	p.L285F		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	285	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTGCGTGGTTCAAGAGGCGGC	0.562000														39			21		0	0	0.010504	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761093	121761093	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:121761093G>A	uc003ksw.1	+	4	1255	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.G350E|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.G397E|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G44E|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	350					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACGAAAATGGAAACAATCTA	0.433000														72			22		0	0	0.002780	0	0
CAPN9	10753	broad.mit.edu	37	1	230883404	230883404	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:230883404C>T	uc001htz.1	+	0	275	c.162C>T	c.(160-162)tcC>tcT	p.S54S	CAPN9_uc009xfg.1_Silent_p.S54S|CAPN9_uc001hua.1_Silent_p.S54S	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	54	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCAATTCCTCCCTGTTCTACA	0.587000														68			44		0	0	0.014410	0	0
ASTN1	460	broad.mit.edu	37	1	177001793	177001793	+	Missense_Mutation	SNP	C	A	A	rs148328689		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:177001793C>A	uc001glc.3	-	2	876	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	ASTN1_uc001glb.1_Missense_Mutation_p.V222L|ASTN1_uc001gld.1_Missense_Mutation_p.V222L|ASTN1_uc009wwx.1_Missense_Mutation_p.V222L|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	222					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGCCCTGCACGCGGGCATTG	0.602000														67			50		3.86236e-30	4.15855e-30	0.014410	1	0
SLC26A3	1811	broad.mit.edu	37	7	107431496	107431496	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:107431496G>A	uc003ver.2	-	4	778	c.567C>T	c.(565-567)atC>atT	p.I189I	SLC26A3_uc003ves.2_Silent_p.I154I	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	189					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGCTCACCTGGATGATTCCAG	0.507000														18			7		0	0	0.001984	0	0
SPTBN5	51332	broad.mit.edu	37	15	42171478	42171478	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:42171478G>A	uc001zos.3	-	15	3390	c.3057C>T	c.(3055-3057)ttC>ttT	p.F1019F		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1054					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTTTGGAGGAAGTGGACCC	0.637000														55			22		0	0	0.010504	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457408	21457408	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:21457408G>A	uc001rer.3	-	4	793	c.542C>T	c.(541-543)tCc>tTc	p.S181F	SLCO1A2_uc010siq.2_Missense_Mutation_p.S49F|SLCO1A2_uc001res.3_Missense_Mutation_p.S181F|SLCO1A2_uc010sio.2_Missense_Mutation_p.S49F|SLCO1A2_uc010sip.2_Missense_Mutation_p.S49F|SLCO1A2_uc001ret.3_Missense_Mutation_p.S179F|SLCO1A2_uc001reu.2_Missense_Mutation_p.S161F	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	181					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S181F(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCTATATAGGAAATACCCAA	0.373000														26			21		0	0	0.008871	0	0
OR5T3	390154	broad.mit.edu	37	11	56020497	56020497	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:56020497C>T	uc010rjd.2	+	0	822	c.822C>T	c.(820-822)caC>caT	p.H274H		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H274Q(2)|p.S273S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTGGCTCTCACCTAACTGGAG	0.408000														111			26		0	0	0.003330	0	0
VPS13D	55187	broad.mit.edu	37	1	12336378	12336378	+	Silent	SNP	T	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:12336378T>G	uc001atv.3	+	18	2874	c.2733T>G	c.(2731-2733)acT>acG	p.T911T	VPS13D_uc001atw.3_Silent_p.T911T|VPS13D_uc001atx.3_Silent_p.T99T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	911					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTTCTGACACTCAGATTAAAG	0.398000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			13		0	0	0.001855	0	0
NLRP4	147945	broad.mit.edu	37	19	56369884	56369884	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:56369884C>T	uc002qmd.4	+	2	1547	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	NLRP4_uc002qmf.3_Silent_p.F300F|NLRP4_uc010etf.3_Silent_p.F206F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	375	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACTCCTCTTTCGTCTTTAACC	0.572000														66			18		0	0	0.004990	0	0
SLC22A16	85413	broad.mit.edu	37	6	110759972	110759972	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:110759972G>A	uc003puf.3	-	4	1329	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F	SLC22A16_uc003pue.3_Missense_Mutation_p.S402F	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	421					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GCAGAAAAGAGAGTAGGCCAG	0.498000														52			16		0	0	0.004990	0	0
ASB10	136371	broad.mit.edu	37	7	150883923	150883923	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:150883923G>A	uc003wjm.1	-	0	556	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	ASB10_uc003wjl.1_Missense_Mutation_p.R99C|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	99					intracellular signal transduction			p.R99C(3)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGTTGAAGCGGAAATCCCTC	0.637000														27			5		0	0	0.000602	0	0
CDON	50937	broad.mit.edu	37	11	125830842	125830842	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:125830842T>C	uc009zbw.3	-	19	3987	c.3859A>G	c.(3859-3861)Acc>Gcc	p.T1287A	CDON_uc001qdb.4_Missense_Mutation_p.T641A|CDON_uc001qdc.4_Missense_Mutation_p.T1264A	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	1287					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTCCTCAGGTTTCCCGGGGC	0.537000														102			24		0	0	0.005443	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835842	12835842	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:12835842C>T	uc001aui.3	+	1	471	c.444C>T	c.(442-444)atC>atT	p.I148I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	148										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGGTGATCCTAGACCTTT	0.547000														112			34		0	0	0.004289	0	0
PAPPA	5069	broad.mit.edu	37	9	119094741	119094741	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr9:119094741G>A	uc004bjn.3	+	11	3772	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N	PAPPA_uc011lxp.1_Missense_Mutation_p.D826N|PAPPA_uc011lxq.2_Missense_Mutation_p.D506N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1131					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCAGAGCCACGATCTAGGTAA	0.493000														29			15		0	0	0.003163	0	0
CSMD2	114784	broad.mit.edu	37	1	34090734	34090734	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:34090734G>A	uc001bxm.1	-	33	5594	c.5417C>T	c.(5416-5418)gCc>gTc	p.A1806V	CSMD2_uc001bxn.1_Missense_Mutation_p.A1766V|CSMD2_uc001bxo.1_Missense_Mutation_p.A679V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1766	CUB 11.					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)				CCCCTGCAGGGCATAGCCGGA	0.642000														74			22		0	0	0.014323	0	0
SLC38A7	55238	broad.mit.edu	37	16	58712283	58712283	+	Silent	SNP	G	A	A	rs34881036	byFrequency	TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:58712283G>A	uc002eod.1	-	4	958	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	SLC38A7_uc002eoc.1_Silent_p.L189L|SLC38A7_uc010vil.1_Silent_p.L100L|SLC38A7_uc002eoe.1_Silent_p.L189L	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	189					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GAGAGGGGCAGGATGAAGAGG	0.577000														45			20		0	0	0.007413	0	0
ANKRD26P3	100101938	broad.mit.edu	37	13	19868773	19868773	+	RNA	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr13:19868773C>T	uc010tck.2	-	12		c.1855G>A								Homo sapiens ankyrin repeat domain 26 pseudogene 3 (ANKRD26P3), non-coding RNA.																		GCGTTCTGTTCCCGAGAAAGT	0.363000														8			3		0	0	0.004672	0	0
STEAP2	261729	broad.mit.edu	37	7	89859333	89859333	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:89859333G>A	uc010len.3	+	4	1674	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	STEAP2_uc003uka.3_Missense_Mutation_p.E390K|STEAP2_uc003ujz.3_Missense_Mutation_p.E390K|STEAP2_uc003ukc.3_Missense_Mutation_p.E390K|STEAP2_uc003ukb.3_Missense_Mutation_p.E390K|STEAP2_uc003ukd.3_Missense_Mutation_p.E390K	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	390	Ferric oxidoreductase.				Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AAACTGGAGAGAATTCAGTTT	0.383000														139			52		0	0	0.014410	0	0
KIF21B	23046	broad.mit.edu	37	1	200946489	200946489	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:200946489C>T	uc001gvs.2	-	30	4493	c.4176G>A	c.(4174-4176)gtG>gtA	p.V1392V	KIF21B_uc009wzl.2_Silent_p.V1392V|KIF21B_uc001gvr.2_Silent_p.V1379V|KIF21B_uc010ppn.2_Silent_p.V1379V	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1392					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCCCTGAGATCACCTGGCCCG	0.582000														105			20		0	0	0.010504	0	0
MAP2K1	5604	broad.mit.edu	37	15	66774131	66774131	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:66774131G>A	uc010bhq.3	+	5	1082	c.607G>A	c.(607-609)Gag>Aag	p.E203K	MAP2K1_uc010ujp.2_Missense_Mutation_p.E181K	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	203	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E203K(6)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CTCCCGTGGGGAGATCAAGCT	0.522000														56			17		0	0	0.004990	0	0
FOXM1	2305	broad.mit.edu	37	12	2968800	2968800	+	Silent	SNP	A	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:2968800A>G	uc001qlf.3	-	8	1579	c.1296T>C	c.(1294-1296)ccT>ccC	p.P432P	LOC100507424_uc021qtc.1_Non-coding_Transcript|FOXM1_uc001qle.3_Silent_p.P470P|FOXM1_uc009zea.3_Silent_p.P417P|FOXM1_uc009zeb.3_Silent_p.P416P|FOXM1_uc001qlg.3_Silent_p.P417P	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	432					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAGAAGAAAGAGGAGCTATCC	0.488000														16			7		0	0	0.001984	0	0
BCKDHA	593	broad.mit.edu	37	19	41916548	41916548	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:41916548C>T	uc002oqq.3	+	1	154	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	BCKDHA_uc002oqm.4_Missense_Mutation_p.P73S|BCKDHA_uc002oqp.2_5'UTR|BCKDHA_uc002oqr.3_Missense_Mutation_p.P39S|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	39			P -> H (in dbSNP:rs34589432).		branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	p.P39T(2)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCAGCACCCCCCCAGGCAGCA	0.607000														49			15		0	0	0.007413	0	0
ASXL3	80816	broad.mit.edu	37	18	31323472	31323472	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr18:31323472C>T	uc010dmg.1	+	11	3715	c.3660C>T	c.(3658-3660)acC>acT	p.T1220T	ASXL3_uc002kxq.2_Silent_p.T927T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1220	Ser-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						TTTCATCTACCTCTTCTGAAA	0.383000														36			15		0	0	0.002450	0	0
MDGA2	161357	broad.mit.edu	37	14	47504453	47504453	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:47504453C>T	uc001wwj.4	-	7	1738	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E	MDGA2_uc001wwi.4_Missense_Mutation_p.G229E|MDGA2_uc010ani.3_Missense_Mutation_p.G18E	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	458	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TATTGTGTCTCCTTCTCTGGT	0.398000														62			26		0	0	0.005443	0	0
NADK	65220	broad.mit.edu	37	1	1696761	1696761	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:1696761C>T	uc001aic.3	-	1	307	c.85G>A	c.(85-87)Gat>Aat	p.D29N	NADK_uc001aid.4_Missense_Mutation_p.D29N|NADK_uc001aie.3_Missense_Mutation_p.D29N|NADK_uc009vkx.1_5'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	29					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CAGGTCTCATCGCCGTGGCAG	0.562000														72			18		0	0	0.004990	0	0
DAGLA	747	broad.mit.edu	37	11	61503210	61503211	+	Splice_Site	DNP	GG	AA	AA			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:61503210_61503211GG>AA	uc001nsa.3	+	12	1329	c.1213_splice	c.e12-1	p.D405_splice		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	405					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCTCCCCAAGGATGCCCTGAC	0.678000														16			4		0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82451966	82451966	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:82451966G>A	uc003uhx.2	-	19	14925	c.14636C>T	c.(14635-14637)cCt>cTt	p.P4879L	PCLO_uc003uhv.2_Missense_Mutation_p.P4879L|PCLO_uc003uht.1_Missense_Mutation_p.P321L|PCLO_uc003uhu.1_Missense_Mutation_p.P300L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4741					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAGCTACCAGGACTACTATG	0.468000														187			60		0	0	0.014410	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017764	17017764	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:17017764C>T	uc002nfb.3	-	29	4198	c.4166G>A	c.(4165-4167)cGa>cAa	p.R1389Q		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1342						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACACCTACCTCGCATGATGGC	0.602000														13			4		0	0	0.009096	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567150	173567150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:173567150G>A	uc001giz.2	-	3	673	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	84					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GTTCTTAGAAGAGGGTAGACA	0.308000														31			25		0	0	0.002780	0	0
OR2M3	127062	broad.mit.edu	37	1	248367008	248367008	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:248367008C>T	uc010pzg.2	+	0	639	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTTGCAATCATCATTGCTT	0.428000														194			101		0	0	0.014410	0	0
OR10A6	390093	broad.mit.edu	37	11	7949494	7949494	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:7949494G>A	uc010rbh.2	-	0	716	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCACAGGTGGAAAAGGCCTT	0.443000														52			16		0	0	0.003163	0	0
FAM83H	286077	broad.mit.edu	37	8	144808643	144808643	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:144808643G>A	uc003yzk.3	-	4	3057	c.2988C>T	c.(2986-2988)ccC>ccT	p.P996P		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	996					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGGCTCTCGGGTTGGCCGT	0.697000														18			14		0	0	0.002450	0	0
TFPI	7035	broad.mit.edu	37	2	188361801	188361801	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:188361801C>T	uc002upy.3	-	2	421	c.126G>A	c.(124-126)acG>acA	p.T42T	TFPI_uc002uqa.2_Silent_p.T42T|TFPI_uc002uqb.2_Silent_p.T42T	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	42					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	GTGGCAACTCCGTATCTATAA	0.303000														16			9		0	0	0.006214	0	0
RELN	5649	broad.mit.edu	37	7	103338459	103338459	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:103338459C>T	uc022ajr.1	-	9	1144	c.984G>A	c.(982-984)tgG>tgA	p.W328*	RELN_uc022ajq.1_Nonsense_Mutation_p.W328*|RELN_uc010liz.3_Nonsense_Mutation_p.W328*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	328					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTCCTGCTTCCACTGAAATT	0.453000														109			33		0	0	0.010818	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178080485	178080485	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:178080485G>A	uc002ulb.1	+	2	309	c.203G>A	c.(202-204)aGa>aAa	p.R68K	HNRNPA3_uc002ulc.1_Missense_Mutation_p.R68K|HNRNPA3_uc002uld.2_Missense_Mutation_p.R46K|HNRNPA3_uc002ule.3_5'Flank	NM_194247	NP_919223	P51991	ROA3_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A3 (HNRNPA3), mRNA.	68	RRM 1.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TAGGTAATGAGAGACCCCCAA	0.428000														51			17		0	0	0.006122	0	0
ACTG2	72	broad.mit.edu	37	2	74135895	74135895	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:74135895G>A	uc002sjw.3	+	3	473	c.351G>A	c.(349-351)agG>agA	p.R117R	ACTG2_uc010yrn.2_Silent_p.R74R|ACTG2_uc010fey.3_Silent_p.R117R	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	117					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGGCCAACAGGGAAAAGATGA	0.507000														22			5		0	0	0.000602	0	0
UTS2R	2837	broad.mit.edu	37	17	80333227	80333227	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:80333227C>T	uc010wvl.2	+	0	1027	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	343						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			ggggcccgTTCCCTCCCTGCA	0.751000														14			7		0	0	0.001984	0	0
SCN4A	6329	broad.mit.edu	37	17	62045702	62045702	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:62045702G>A	uc002jds.1	-	5	794	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	239					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCCCCCACGATCGTCTTCA	0.602000														33			21		0	0	0.012319	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786443	127786443	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:127786443C>T	uc003ekb.3	+	9	1339	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	RUVBL1_uc003ekf.3_Intron|SEC61A1_uc003ekc.3_Silent_p.S332S|SEC61A1_uc003ekd.3_Silent_p.S265S|SEC61A1_uc003ekg.3_Silent_p.S79S	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	385					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCTCAGGTTCCTCTGCCAAAG	0.458000														47			18		0	0	0.008871	0	0
PTCHD2	57540	broad.mit.edu	37	1	11591711	11591711	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:11591711G>A	uc001ash.4	+	16	3457	c.3319G>A	c.(3319-3321)Ggg>Agg	p.G1107R		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1107					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTGTCCCACGGGGCAGTGGG	0.662000														63			17		0	0	0.004990	0	0
ROS1	6098	broad.mit.edu	37	6	117622149	117622149	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:117622149C>T	uc003pxp.1	-	41	6920	c.6721G>A	c.(6721-6723)Gaa>Aaa	p.E2241K	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2241					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAAAGCTTTCATTTATGACT	0.323000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									36			13		0	0	0.013537	0	0
C17orf101	79701	broad.mit.edu	37	17	80369340	80369340	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:80369340C>T	uc002ket.2	-	2	523	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Missense_Mutation_p.R124Q	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	124						integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						CCTGCGAATCCGCTCCGCTTC	0.582000														40			6		0	0	0.001168	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196382	102196382	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:102196382C>T	uc003dvt.1	+	10	1316	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	ZPLD1_uc003dvs.1_Silent_p.L390L|ZPLD1_uc011bhg.1_Silent_p.L390L	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	390						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTCTCTTCTTCTGTGCTCACT	0.488000														146			56		0	0	0.014410	0	0
SCN9A	6335	broad.mit.edu	37	2	167055571	167055571	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:167055571G>A	uc010fpl.3	-	26	5886	c.5545C>T	c.(5545-5547)Cgt>Tgt	p.R1849C	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1860						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCTGTGAACGAAGAGAATCC	0.453000														112			32		0	0	0.003271	0	0
PSG9	5678	broad.mit.edu	37	19	43766210	43766210	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:43766210G>A	uc002owd.4	-	2	610	c.511C>T	c.(511-513)Cct>Tct	p.P171S	PSG9_uc002owe.4_Missense_Mutation_p.P171S|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.P171S	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	171	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGAGTCTCAGGATCACAGATT	0.532000														184			66		0	0	0.014410	0	0
C15orf2	23742	broad.mit.edu	37	15	24922085	24922085	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:24922085C>T	uc001ywo.3	+	0	1545	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	357	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTGCTAAGCTCCCCTGCCTGT	0.527000														33			11		0	0	0.010729	0	0
MANSC1	54682	broad.mit.edu	37	12	12483803	12483803	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:12483803G>A	uc001rai.1	-	3	712	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	MANSC1_uc010shm.1_Missense_Mutation_p.P86S|MANSC1_uc001raj.1_Missense_Mutation_p.P118S	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	152						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TGGGCTAGGGGAGTGACTGCT	0.428000														66			19		0	0	0.010504	0	0
CSMD1	64478	broad.mit.edu	37	8	2886972	2886972	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:2886972C>T	uc022aqr.1	-	50	8114	c.7724G>A	c.(7723-7725)gGa>gAa	p.G2575E	CSMD1_uc011kwj.2_Missense_Mutation_p.G1905E|CSMD1_uc010lrg.3_Missense_Mutation_p.G644E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2576	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCAAGGATCCTGAAACCAG	0.522000														14			5		0	0	0.000602	0	0
MYH1	4619	broad.mit.edu	37	17	10399779	10399779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:10399779C>T	uc002gmo.3	-	33	4838	c.4744G>A	c.(4744-4746)Gaa>Aaa	p.E1582K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1582						muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						TCATCTTTTTCAGCAATTTTC	0.448000														101			39		0	0	0.007835	0	0
PEG3	5178	broad.mit.edu	37	19	57328594	57328594	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:57328594C>T	uc002qnu.2	-	6	1567	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D377N|PEG3_uc002qnv.2_Missense_Mutation_p.D406N|PEG3_uc002qnw.2_Missense_Mutation_p.D282N|PEG3_uc002qnx.2_Missense_Mutation_p.D280N|PEG3_uc010etr.2_Missense_Mutation_p.D406N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	406					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H405H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTTTTGATCGTGAATCGAG	0.488000														105			28		0	0	0.007291	0	0
TNNT3	7140	broad.mit.edu	37	11	1955597	1955597	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:1955597G>A	uc001luu.4	+	11	614	c.402G>A	c.(400-402)aaG>aaA	p.K134K	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.4_Silent_p.K126K|TNNT3_uc001luo.4_Silent_p.K126K|TNNT3_uc001lup.4_Silent_p.K132K|TNNT3_uc001luq.4_Silent_p.K126K|TNNT3_uc001lur.3_Silent_p.K126K|TNNT3_uc010qxf.2_Silent_p.K132K|TNNT3_uc010qxg.2_Silent_p.K66K	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	145					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGGATGCCAAGAGGAGGGCAG	0.577000														32			11		0	0	0.013537	0	0
OTC	5009	broad.mit.edu	37	X	38262956	38262956	+	Missense_Mutation	SNP	C	T	T	rs72558417		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:38262956C>T	uc004def.4	+	5	840	c.626C>T	c.(625-627)gCg>gTg	p.A209V		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	209			A -> V (in OTCD; neonatal).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	p.A209A(1)|p.A208T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ATGAGCGCAGCGAAATTCGGA	0.478000														25			23		0	0	0.014323	0	0
PTPRJ	5795	broad.mit.edu	37	11	48168491	48168491	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:48168491G>A	uc001ngp.4	+	14	3330	c.2975G>A	c.(2974-2976)gGc>gAc	p.G992D		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	992					contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACTGTGGGAGGCTTCATCTTC	0.408000														199			47		0	0	0.014410	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903641	54903641	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:54903641G>A	uc001sgc.4	+	6	686	c.607G>A	c.(607-609)Gga>Aga	p.G203R	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.G153R	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	203					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|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 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 T cell proliferation|positive regulation of actin filament polymerization|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|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase 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						GGCTGTGAGTGGAGCCCTCCT	0.517000														190			63		0	0	0.014410	0	0
CRYGN	155051	broad.mit.edu	37	7	151135082	151135082	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:151135082C>T	uc003wke.3	-	2	366	c.270_splice	c.e2+1	p.M90_splice	CRYGN_uc003wkf.3_Missense_Mutation_p.M90I|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	90										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCACTCACCATTCCTACAG	0.642000														53			16		0	0	0.007413	0	0
PRDM9	56979	broad.mit.edu	37	5	23527787	23527787	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:23527787G>A	uc003jgo.3	+	10	2772	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	864					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						CGTCTGCAGGGAGTGTGGGCG	0.582000										HNSCC(3;0.000094)				86			24		0	0	0.003330	0	0
ASB15	142685	broad.mit.edu	37	7	123269101	123269101	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:123269101G>C	uc003vku.1	+	9	1345	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N	ASB15_uc003vkw.1_Missense_Mutation_p.K351N	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	351					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATGAGAGGAAGACTGCGCTGT	0.448000														67			22		0	0	0.002780	0	0
SHBG	6462	broad.mit.edu	37	17	7535262	7535262	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:7535262G>A	uc002gie.2	+	5	819	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	SHBG_uc010cmu.2_Missense_Mutation_p.G203S|SHBG_uc010cmo.2_Missense_Mutation_p.G149S|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Missense_Mutation_p.G149S|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.G203S|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Missense_Mutation_p.G149S|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.G203S|SHBG_uc002gid.3_Missense_Mutation_p.G203S|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.G243S|SHBG_uc010vuf.1_Missense_Mutation_p.G261S|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Missense_Mutation_p.G207S	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	261	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GCAGGCAGCAGGCTCAGGCCA	0.567000														180			45		0	0	0.014410	0	0
OR2D2	120776	broad.mit.edu	37	11	6913692	6913692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:6913692G>A	uc010rau.2	-	0	40	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTCCCAGAAGGAGGAATTCT	0.433000														58			14		0	0	0.004007	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724182	140724182	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:140724182G>A	uc003ljm.2	+	0	582	c.582G>A	c.(580-582)ctG>ctA	p.L194L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.L194L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	194	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L194L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAGAGCTGGTGCTGGAGC	0.537000														49			27		0	0	0.004656	0	0
ADAM28	10863	broad.mit.edu	37	8	24167700	24167701	+	Missense_Mutation	DNP	GG	AC	AC	rs150620720		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:24167700_24167701GG>AC	uc003xdy.3	+	3	335_336	c.252_253GG>AC	c.(250-255)acggaa>acACaa	p.E85Q	ADAM28_uc003xdx.3_Missense_Mutation_p.E85Q|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	85					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGGCTACACGGAAACATATTA	0.396000														14			3		0	0	0.004672	0	0
SCN10A	6336	broad.mit.edu	37	3	38750978	38750978	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:38750978C>T	uc003ciq.3	-	23	4272	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1424					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTTTTTTTTCTGTTGATTGA	0.413000														60			13		0	0	0.001855	0	0
PTPRT	11122	broad.mit.edu	37	20	40979339	40979339	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:40979339G>A	uc002xkg.3	-	10	1978	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	PTPRT_uc010ggj.3_Silent_p.T598T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	598	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATTCAATGGGGTGTCTGTGT	0.567000														76			18		0	0	0.004990	0	0
PDE1C	5137	broad.mit.edu	37	7	31887622	31887622	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:31887622C>T	uc003tcm.2	-	8	1401	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	PDE1C_uc003tcn.1_Missense_Mutation_p.E314K|PDE1C_uc003tco.2_Missense_Mutation_p.E374K|PDE1C_uc003tcr.3_Missense_Mutation_p.E314K|PDE1C_uc003tcs.3_Missense_Mutation_p.E314K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	314	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATATTCATTTCCTCGTCATCT	0.408000														35			14		0	0	0.001855	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95430554	95430554	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:95430554G>A	uc001kiz.2	-	12	1076	c.878C>T	c.(877-879)cCa>cTa	p.P293L	FRA10AC1_uc001kiv.2_Non-coding_Transcript	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	293						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CTCTGGTAGTGGACCCTTCCA	0.323000														19			6		0	0	0.001168	0	0
KIF1B	23095	broad.mit.edu	37	1	10425692	10425692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:10425692G>A	uc001aqx.4	+	42	4940	c.4738G>A	c.(4738-4740)Gag>Aag	p.E1580K	KIF1B_uc001aqw.4_Missense_Mutation_p.E1534K|KIF1B_uc001aqy.3_Missense_Mutation_p.E1554K|KIF1B_uc001aqz.3_Missense_Mutation_p.E1580K|KIF1B_uc001ara.3_Missense_Mutation_p.E1540K|KIF1B_uc001arb.3_Missense_Mutation_p.E1566K	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1580					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCGAGAGAAAGAGCTGGCTAC	0.493000														50			16		0	0	0.003163	0	0
AADACL4	343066	broad.mit.edu	37	1	12726684	12726684	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:12726684C>T	uc001auf.3	+	3	1162	c.1162C>T	c.(1162-1164)Ctc>Ttc	p.L388F		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	388						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TAAGAAGGCTCTCTCTTTCCC	0.478000														70			15		0	0	0.004990	0	0
SALL1	6299	broad.mit.edu	37	16	51172979	51172979	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:51172979G>A	uc021tif.1	-	1	3185	c.2863C>T	c.(2863-2865)Cag>Tag	p.Q955*	SALL1_uc021tid.1_Nonsense_Mutation_p.Q955*|SALL1_uc021tie.1_Nonsense_Mutation_p.Q1052*|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1052					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S954S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTCGCATCTGATGTGTCAAC	0.468000														24			9		0	0	0.004482	0	0
PRR14	78994	broad.mit.edu	37	16	30664259	30664259	+	Silent	SNP	T	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:30664259T>C	uc002dyy.3	+	4	597	c.339T>C	c.(337-339)tgT>tgC	p.C113C	PRR14_uc002dyz.3_5'UTR|PRR14_uc002dza.3_Silent_p.C113C|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	113	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TGTGTTTGTGTCGCGAGCCCT	0.627000														48			15		0	0	0.004990	0	0
FUCA1	2517	broad.mit.edu	37	1	24181003	24181003	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:24181003G>A	uc001bie.3	-	4	899	c.816C>T	c.(814-816)caC>caT	p.H272H	FUCA1_uc009vqt.2_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	272					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		ATCCTCCATGGTGACAGGAAC	0.448000														96			37		0	0	0.003755	0	0
FMN2	56776	broad.mit.edu	37	1	240341353	240341353	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:240341353G>A	uc010pye.2	+	2	2140	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	FMN2_uc010pyd.2_Missense_Mutation_p.E639K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	639					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACACAGGCTCGAGGATGCTGA	0.448000														38			6		0	0	0.001984	0	0
RGPD3	653489	broad.mit.edu	37	2	107041440	107041440	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:107041440C>T	uc010ywi.1	-	19	3040	c.2983G>A	c.(2983-2985)Gga>Aga	p.G995R		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	995					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTGAAAATCCCTTGAAATTG	0.373000														154			57		0	0	0.014410	0	0
DUSP22	56940	broad.mit.edu	37	6	348772	348772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:348772C>T	uc003msx.3	+	6	878	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	DUSP22_uc011dhn.1_Missense_Mutation_p.R147W|DUSP22_uc003msy.1_Missense_Mutation_p.R104W	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	147					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCTCCAGTATCGGCAGTGGCT	0.517000														103			15		0	0	0.004007	0	0
LEO1	123169	broad.mit.edu	37	15	52230438	52230438	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:52230438T>C	uc002abo.3	-	11	1932	c.1916A>G	c.(1915-1917)aAg>aGg	p.K639R	LEO1_uc010bfd.3_Missense_Mutation_p.K579R	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA.	639					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TGCTTTTCTCTTTCCGGAAGG	0.323000														11			4		0	0	0.000602	0	0
SCN1A	6323	broad.mit.edu	37	2	166892848	166892848	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:166892848C>T	uc002udo.4	-	17	3366	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	SCN1A_uc010fpk.3_Missense_Mutation_p.E1019K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1036K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1047						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTTAATTTCATCTAAAATC	0.308000														25			13		0	0	0.013537	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541683	96541683	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:96541683G>A	uc010qnz.2	+	4	748	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	CYP2C19_uc009xus.1_Missense_Mutation_p.E115K|CYP2C19_uc010qny.2_Missense_Mutation_p.E228K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	250					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAAAGTAAAAGAACACCAAGA	0.338000														31			11		0	0	0.010729	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605535	5605535	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrY:5605535C>T	uc004fqo.3	+	4	4309	c.3575C>T	c.(3574-3576)cCt>cTt	p.P1192L	PCDH11Y_uc022ciy.1_5'Flank	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1192					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGCCACAGCCCTCCAGTGACA	0.587000														39			46		0	0	0.010771	0	0
ALX3	257	broad.mit.edu	37	1	110603566	110603566	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:110603566T>G	uc001dzb.3	-	3	909	c.821A>C	c.(820-822)tAt>tCt	p.Y274S		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGTGGGAATATGGAGACAT	0.642000														23			5		0	0	0.000602	0	0
ADAM7	8756	broad.mit.edu	37	8	24350600	24350600	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:24350600C>T	uc003xeb.3	+	15	1813	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	ADAM7_uc003xec.3_Missense_Mutation_p.S339F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	567	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGGGAGCTTTCCTCTCTCCTT	0.393000														63			19		0	0	0.012319	0	0
SART3	9733	broad.mit.edu	37	12	108919970	108919970	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:108919970G>A	uc001tmz.1	-	15	2511	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	SART3_uc001tmy.1_Missense_Mutation_p.A285V|SART3_uc009zux.1_Missense_Mutation_p.A371V|SART3_uc010swx.1_Missense_Mutation_p.A723V|SART3_uc010swy.1_Missense_Mutation_p.A645V|SART3_uc010swz.1_3'UTR	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	759	RRM 1.				RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TGCCTGAAGGGCTGATTTCTC	0.512000									Porokeratosis					91			29		0	0	0.007291	0	0
CNTN5	53942	broad.mit.edu	37	11	100141934	100141934	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:100141934C>T	uc001pga.3	+	17	2779	c.2275C>T	c.(2275-2277)Cca>Tca	p.P759S	CNTN5_uc001pfz.3_Missense_Mutation_p.P759S|CNTN5_uc021qpb.1_Missense_Mutation_p.P759S|CNTN5_uc021qpc.1_Missense_Mutation_p.P685S|CNTN5_uc010ruk.2_Missense_Mutation_p.P30S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	759	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GACAGGAGATCCAAGCACCCC	0.463000														30			6		0	0	0.001168	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682122	3682122	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:3682122G>A	uc002wja.3	-	5	1395	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	SIGLEC1_uc002wiz.4_Silent_p.F465F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	465	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGTACCACTGAAGCGTGGGC	0.602000														66			32		0	0	0.010818	0	0
CDKAL1	54901	broad.mit.edu	37	6	21065457	21065457	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:21065457G>A	uc003ndd.2	+	11	1401	c.1234G>A	c.(1234-1236)Gtg>Atg	p.V412M	CDKAL1_uc003nde.2_Missense_Mutation_p.V342M|CDKAL1_uc021ymk.1_Missense_Mutation_p.V412M|CDKAL1_uc003ndf.2_Missense_Mutation_p.V8M	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	412					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCCAGCACAAGTGGTAAGATC	0.393000														140			51		0	0	0.014410	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:92251698G>A	uc001xzu.4	-	10	1361	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_uc001xzt.4_Silent_p.F390F|TC2N_uc010auc.3_Silent_p.F326F|TC2N_uc001xzv.4_Silent_p.F390F	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000														119			43		0	0	0.008740	0	0
CACNG5	27091	broad.mit.edu	37	17	64880639	64880639	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:64880639C>T	uc010wqi.2	+	4	668	c.431C>T	c.(430-432)tCt>tTt	p.S144F	CACNG5_uc010wqj.2_Missense_Mutation_p.S144F|CACNG5_uc021uby.1_Non-coding_Transcript	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	144					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCAGGCCTCTCTCTCGTGGTG	0.567000														56			18		0	0	0.008871	0	0
APBA2	321	broad.mit.edu	37	15	29346945	29346946	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:29346945_29346946CC>TT	uc001zck.3	+	2	1062_1063	c.858_859CC>TT	c.(856-861)ctcctt>ctTTtt	p.L287F	APBA2_uc010azj.2_Missense_Mutation_p.L287F|APBA2_uc010uat.2_Missense_Mutation_p.L287F|APBA2_uc001zcl.3_Missense_Mutation_p.L287F|APBA2_uc010uas.1_Missense_Mutation_p.L287F	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	287					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGCTGAACCTCCTTCCCGAGGC	0.668000														32			11		0	0	0.004672	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	88526	88526	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrGL000209.1:88526C>T	uc002quk.1	+	2	341	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	96							receptor activity										CTACAGATGTCGGGGTTCACA	0.577000														37			12		0	0	0.001855	0	0
ASXL3	80816	broad.mit.edu	37	18	31320012	31320012	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr18:31320012G>A	uc010dmg.1	+	10	2699	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	ASXL3_uc002kxq.2_Missense_Mutation_p.E589K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	882					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						TTCACCATTGGAATTATCTGT	0.373000														60			13		0	0	0.001855	0	0
KYNU	8942	broad.mit.edu	37	2	143715284	143715284	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:143715284G>A	uc010fnm.3	+	8	798	c.582_splice	c.e8+1	p.E194_splice	KYNU_uc002tvk.3_Splice_Site_p.E194_splice|KYNU_uc002tvl.3_Splice_Site_p.E194_splice	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	194					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGCCAAGAGAGGTATATGAGA	0.289000														22			5		0	0	0.001984	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327778	49327778	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:49327778G>A	uc001zxe.2	-	2	545	c.281C>T	c.(280-282)cCc>cTc	p.P94L	SECISBP2L_uc001zxd.2_Missense_Mutation_p.P94L|SECISBP2L_uc010bep.2_Intron|SECISBP2L_uc010beq.2_Missense_Mutation_p.P94L	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	94										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGATATAATGGGATAGGCAAA	0.413000														51			15		0	0	0.003163	0	0
OR4M1	441670	broad.mit.edu	37	14	20248811	20248811	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:20248811G>A	uc010tku.2	+	0	330	c.330G>A	c.(328-330)tcG>tcA	p.S110S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110S(2)|p.S110L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGGGCTTCGGAGATGTTCT	0.483000														292			44		0	0	0.010771	0	0
DCAF13	25879	broad.mit.edu	37	8	104427556	104427556	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:104427556C>T	uc003yln.3	+	0	615	c.338C>T	c.(337-339)tCc>tTc	p.S113F	SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GGCCGCCGCTCCGCGAGTCAC	0.637000														74			21		0	0	0.014323	0	0
TMEM125	128218	broad.mit.edu	37	1	43739005	43739005	+	Silent	SNP	T	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:43739005T>C	uc021omm.1	+	0	612	c.612T>C	c.(610-612)tcT>tcC	p.S204S	EBNA1BP2_uc001cio.3_5'Flank|TMEM125_uc021oml.1_Silent_p.S204S|TMEM125_uc001cir.3_Silent_p.S204S	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	Homo sapiens transmembrane protein 125 (TMEM125), mRNA.	204						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACAGTTGTCTGCTGGCCGGC	0.632000														24			8		0	0	0.003080	0	0
LILRA1	11024	broad.mit.edu	37	19	55106174	55106174	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:55106174A>C	uc002qgh.1	+	3	297	c.115A>C	c.(115-117)Atc>Ctc	p.I39L	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.I39L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	39	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGCTCTGTGATCACCCAGGG	0.547000														73			19		0	0	0.006122	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64747359	64747359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:64747359C>T	uc003jtp.3	-	6	1830	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	339	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AATGGTGTTTCCATCACTTTG	0.408000														21			16		0	0	0.004990	0	0
TGM4	7047	broad.mit.edu	37	3	44951734	44951734	+	Missense_Mutation	SNP	C	T	T	rs145555133		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:44951734C>T	uc003coc.4	+	10	1553	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	494					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L494R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CACCGTGATTCTTAAAAGGAA	0.448000														77			30		0	0	0.013726	0	0
SMCR7	125170	broad.mit.edu	37	17	18167115	18167115	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:18167115C>T	uc010vxq.2	+	3	461	c.435C>T	c.(433-435)ttC>ttT	p.F145F	SMCR7_uc002gsu.3_Nonsense_Mutation_p.R110*|SMCR7_uc002gst.3_Silent_p.F134F	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	134						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					TGCTGGCCTTCGAGCGGGACC	0.622000														53			12		0	0	0.013537	0	0
SNAP91	9892	broad.mit.edu	37	6	84375262	84375262	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:84375262G>A	uc021zcf.1	-	1	199	c.169C>T	c.(169-171)Cct>Tct	p.P57S	SNAP91_uc003pka.3_Missense_Mutation_p.P57S|SNAP91_uc011dze.2_Missense_Mutation_p.P57S|SNAP91_uc003pkc.3_Missense_Mutation_p.P57S|SNAP91_uc003pkd.3_Missense_Mutation_p.P57S|SNAP91_uc003pkb.3_Missense_Mutation_p.P22S|SNAP91_uc011dzf.1_Intron	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	57	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCCATCTGAGGAATATTAACA	0.373000														79			23		0	0	0.014323	0	0
ITGA8	8516	broad.mit.edu	37	10	15714738	15714738	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:15714738G>A	uc001ioc.1	-	6	687	c.687C>T	c.(685-687)atC>atT	p.I229I	ITGA8_uc010qcb.1_Silent_p.I229I	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	229					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CACTGGCAGTGATCACTTGTC	0.448000														37			9		0	0	0.004482	0	0
ZNF230	7773	broad.mit.edu	37	19	44515405	44515405	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:44515405C>T	uc002oyb.1	+	4	1465	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGCCGGGCTTCAAGTATTTTG	0.433000														57			20		0	0	0.007413	0	0
AHNAK	79026	broad.mit.edu	37	11	62292211	62292211	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:62292211G>A	uc001ntl.3	-	4	9978	c.9678C>T	c.(9676-9678)ctC>ctT	p.L3226L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3226					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)				CTTTAAGATTGAGGTCCAAAT	0.408000														71			42		0	0	0.006230	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960800	51960800	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:51960800C>T	uc002pwt.3	-	1	715	c.648G>A	c.(646-648)caG>caA	p.Q216Q	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	216	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGCCGTGGTCCTGGGGCTTTG	0.652000														47			12		0	0	0.010729	0	0
COL11A1	1301	broad.mit.edu	37	1	103405961	103405961	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:103405961C>T	uc001dum.3	-	42	3660	c.3342G>A	c.(3340-3342)ggG>ggA	p.G1114G	COL11A1_uc001duk.3_Silent_p.G298G|COL11A1_uc001dul.3_Silent_p.G1102G|COL11A1_uc001dun.3_Silent_p.G1063G|COL11A1_uc009weh.3_Silent_p.G986G	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1102	Triple-helical region.		Missing (in STL2).		collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G1114E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCCATCTCTCCCTGCAGGCC	0.478000														63			19		0	0	0.008871	0	0
RIPK1	8737	broad.mit.edu	37	6	3083487	3083487	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:3083487G>A	uc010jni.3	+	4	860	c.628G>A	c.(628-630)Gat>Aat	p.D210N	RIPK1_uc003muv.4_Missense_Mutation_p.D47N|RIPK1_uc003mux.3_Missense_Mutation_p.D210N|RIPK1_uc011dhs.2_Missense_Mutation_p.D164N	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.	210	Protein kinase.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|positive regulation of interleukin-8 production|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AGAGAAGTCGGATGTGTACAG	0.517000														54			14		0	0	0.001855	0	0
COL8A2	1296	broad.mit.edu	37	1	36564573	36564573	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:36564573C>T	uc001bzv.2	-	1	716	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	COL8A2_uc001bzw.2_Missense_Mutation_p.G172S	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	237	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGTTTGCCTAAGCCAGCT	0.716000														27			13		0	0	0.001855	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72335030	72335030	+	RNA	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:72335030C>T	uc010lal.1	-	0		c.4626G>A								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		CCACGCCTTCCTCAGGAGGGC	0.607000														7			6		0	0	0.001168	0	0
PENK	5179	broad.mit.edu	37	8	57354230	57354230	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:57354230C>T	uc003xsz.2	-	1	486	c.405G>A	c.(403-405)cgG>cgA	p.R135R	PENK_uc003xta.3_Silent_p.R135R	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	135					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AGCCCCCATACCGCTTGGCGA	0.512000														86			23		0	0	0.004656	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744365	140744365	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:140744365C>T	uc003lju.2	+	0	468	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.F156F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	156	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTCCCTTCGCGCGGGATG	0.483000														23			16		0	0	0.004007	0	0
JPH1	56704	broad.mit.edu	37	8	75227537	75227537	+	Missense_Mutation	SNP	G	A	A	rs142292285	byFrequency	TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:75227537G>A	uc003yae.3	-	1	738	c.698C>T	c.(697-699)tCg>tTg	p.S233L	JPH1_uc003yaf.3_Missense_Mutation_p.S233L|JPH1_uc003yag.1_Missense_Mutation_p.S97L	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	233	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGCTTGCTCGAGATGGAAGA	0.557000														103			20		0	0	0.008871	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508264	37508264	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:37508264C>T	uc021ppc.1	+	33	3555	c.3456C>T	c.(3454-3456)gaC>gaT	p.D1152D	ANKRD30A_uc001iza.1_Silent_p.D1152D	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1208						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						CTGTACAAGACCATGATCAAA	0.373000														35			15		0	0	0.002450	0	0
BCL11B	64919	broad.mit.edu	37	14	99640620	99640620	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:99640620C>T	uc001yga.3	-	3	2820	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	BCL11B_uc001ygb.3_Silent_p.K780K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	851						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGTACACCTCCTTGCCGATCT	0.602000			T	TLX3	T-ALL									27			13		0	0	0.001855	0	0
COL6A3	1293	broad.mit.edu	37	2	238249666	238249666	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:238249666G>A	uc002vwl.2	-	37	8178	c.7893C>T	c.(7891-7893)acC>acT	p.T2631T	COL6A3_uc002vwo.2_Silent_p.T2425T|COL6A3_uc010znj.1_Silent_p.T2024T|COL6A3_uc002vwj.2_Silent_p.T12T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2631	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTGGAACAGGGTGGTGGTCT	0.552000														115			44		0	0	0.010771	0	0
OR6F1	343169	broad.mit.edu	37	1	247875470	247875470	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:247875470C>T	uc001idj.1	-	0	588	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGCCACAAGCTCTACTGCCT	0.532000														82			70		0	0	0.014410	0	0
EMR1	2015	broad.mit.edu	37	19	6937272	6937272	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:6937272C>T	uc002mfw.3	+	18	2438	c.2400C>T	c.(2398-2400)gcC>gcT	p.A800A	EMR1_uc010dvc.3_Silent_p.A735A|EMR1_uc010dvb.3_Silent_p.A781A|EMR1_uc010xji.2_Silent_p.A659A|EMR1_uc010xjj.2_Silent_p.A623A	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	800					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCTTCAAGGCCTTTGCCCAGC	0.537000														95			31		0	0	0.003271	0	0
SH2D5	400745	broad.mit.edu	37	1	21050224	21050225	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:21050224_21050225GG>AA	uc009vpy.1	-	7	1304_1305	c.802_803CC>TT	c.(802-804)cct>TTt	p.P268F	SH2D5_uc001bdt.1_Missense_Mutation_p.P184F|SH2D5_uc001bdu.1_Non-coding_Transcript	NM_001103161	NP_001096630	Q6ZV89	SH2D5_HUMAN	Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA.	184	SH2.									lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATGCGGCAGGAACTGTGGAG	0.673000														28			10		0	0	0.004672	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430723	37430723	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:37430723G>A	uc021ppc.1	+	6	829	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E244K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	300						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E244K(2)|p.E244G(1)		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						AAGCTTGGTGGAAAAAACACC	0.507000														21			17		0	0	0.004007	0	0
CCDC27	148870	broad.mit.edu	37	1	3673309	3673309	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:3673309C>T	uc001akv.2	+	3	647	c.566C>T	c.(565-567)cCc>cTc	p.P189L		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	189										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TACCTCCTTCCCTTCAGTAAG	0.567000														89			29		0	0	0.013726	0	0
SYNE1	23345	broad.mit.edu	37	6	152716712	152716712	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:152716712G>A	uc021zhb.1	-	48	7874	c.7651C>T	c.(7651-7653)Cct>Tct	p.P2551S	SYNE1_uc003qot.4_Missense_Mutation_p.P2558S|SYNE1_uc003qou.4_Missense_Mutation_p.P2551S|SYNE1_uc010kjb.1_Missense_Mutation_p.P2534S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2551					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCTCAGGAATGTGCTGT	0.403000										HNSCC(10;0.0054)				67			22		0	0	0.010504	0	0
RINT1	60561	broad.mit.edu	37	7	105205983	105205983	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:105205983C>T	uc003vda.1	+	13	2305	c.2074C>T	c.(2074-2076)Ctt>Ttt	p.L692F	RINT1_uc010ljj.1_Missense_Mutation_p.L267F|EFCAB10_uc003vdb.3_Intron|BC007100_uc003vdd.1_5'Flank	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	692	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGATAATTCTTGCTAATCA	0.358000														34			5		0	0	0.000602	0	0
CNGA2	1260	broad.mit.edu	37	X	150912780	150912780	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:150912780G>A	uc004fey.1	+	6	2029	c.1805G>A	c.(1804-1806)gGg>gAg	p.G602E		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	602					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAGCTAGGGCAGCTGGAG	0.582000														37			36		0	0	0.003755	0	0
DNAH7	56171	broad.mit.edu	37	2	196729430	196729430	+	Nonsense_Mutation	SNP	G	A	A	rs115474479	by1000genomes	TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:196729430G>A	uc002utj.4	-	40	7050	c.6949C>T	c.(6949-6951)Cga>Tga	p.R2317*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2317	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2317*(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGCAAATCGAAACAAGACA	0.443000														61			17		0	0	0.004007	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514709	233514709	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:233514709G>A	uc001hvt.4	+	8	2218	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R	KIAA1804_uc001hvu.4_Missense_Mutation_p.G99R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	653					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TTCCCCTGATGGATTAGAACA	0.378000														46			31		0	0	0.003755	0	0
LACE1	246269	broad.mit.edu	37	6	108687531	108687531	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:108687531C>A	uc003psj.3	+	5	929	c.743C>A	c.(742-744)cCg>cAg	p.P248Q		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	Homo sapiens lactation elevated 1 (LACE1), mRNA.	248							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AACAGGCCACCGGAAGGTAAA	0.373000														34			3		0.004672	0.0049098	0.004672	1	0
CACNA1B	774	broad.mit.edu	37	9	140953128	140953128	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr9:140953128C>T	uc004cog.3	+	28	4561	c.4416C>T	c.(4414-4416)ccC>ccT	p.P1472P	CACNA1B_uc022bqn.1_Silent_p.P1472P|CACNA1B_uc011mfd.2_Silent_p.P1073P|CACNA1B_uc004coi.3_Silent_p.P686P	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1472					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCCCGCCCTTTGAATACT	0.567000														10			5		0	0	0.000602	0	0
CCDC108	255101	broad.mit.edu	37	2	219894256	219894256	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:219894256C>T	uc002vjl.1	-	10	1603	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.E496K|CCDC108_uc010zkq.1_Missense_Mutation_p.E442K	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	507						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGACACTCTCCAAGCAGTCG	0.597000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			16		0	0	0.006122	0	0
HOXB1	3211	broad.mit.edu	37	17	46607154	46607154	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:46607154C>T	uc002ink.1	-	1	667	c.661G>A	c.(661-663)Gag>Aag	p.E221K	HOXB1_uc021tzf.1_3'UTR	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	221						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAATGGAACTCCTTTTCCAGT	0.602000														169			58		0	0	0.014410	0	0
CLCNKA	1187	broad.mit.edu	37	1	16381937	16381937	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:16381937G>A	uc001axx.4	+	16	1900	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	CLCNKA_uc021ogm.1_Silent_p.Q419Q|CLCNKA_uc001axy.4_Silent_p.Q419Q	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	588	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CAGAGTCCCAGATCCTGGTGG	0.587000														28			13		0	0	0.004007	0	0
THRSP	7069	broad.mit.edu	37	11	77775335	77775335	+	Silent	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:77775335G>A	uc021qnu.1	+	0	408	c.408G>A	c.(406-408)agG>agA	p.R136R	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron|THRSP_uc001oyx.3_Silent_p.R136R	NM_003251	NP_003242	Q92748	THRSP_HUMAN	Homo sapiens thyroid hormone responsive (THRSP), mRNA.	136					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			AGGTGACAAGGAAATACCAGG	0.542000														18			12		0	0	0.013537	0	0
OR13H1	347468	broad.mit.edu	37	X	130678461	130678461	+	Silent	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:130678461C>T	uc011muw.2	+	0	414	c.414C>T	c.(412-414)ggC>ggT	p.G138G	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TTATGAATGGCCCAGTATGTG	0.537000														64			54		0	0	0.014410	0	0
SMPD1	6609	broad.mit.edu	37	11	6413100	6413100	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:6413100G>C	uc001mcw.3	+	1	990	c.805G>C	c.(805-807)Gcc>Ccc	p.A269P	SMPD1_uc021qcz.1_Missense_Mutation_p.A269P|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_Missense_Mutation_p.A268P|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	267					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GCTGGGCCCAGCCGGCCCTTT	0.642000														134			36		0	0	0.004289	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134488026	134488026	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:134488026G>A	uc003yuk.2	-	4	1071	c.242C>T	c.(241-243)aCc>aTc	p.T81I	ST3GAL1_uc003yum.2_Missense_Mutation_p.T81I	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	81					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CGGCTGCATGGTCTGGTTGAA	0.617000														33			9		0	0	0.004482	0	0
BTBD7	55727	broad.mit.edu	37	14	93723590	93723590	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:93723590A>G	uc001ybo.3	-	5	1885	c.1559T>C	c.(1558-1560)gTg>gCg	p.V520A	BTBD7_uc010aur.3_Missense_Mutation_p.V45A|BTBD7_uc010two.2_Missense_Mutation_p.V340A|BTBD7_uc001ybp.3_Missense_Mutation_p.V169A|BTBD7_uc001ybq.4_Missense_Mutation_p.V435A	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	520										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TTCAATTCGCACAAAAGGTAA	0.413000														71			23		0	0	0.003330	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667701	70667701	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:70667701C>T	uc003xyl.3	-	3	1923	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	SLCO5A1_uc010lzb.3_Missense_Mutation_p.D406N|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.D406N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D406N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	406						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACTTTTTTGTCCGCTTGTTCA	0.373000														31			3		0	0	0.009096	0	0
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	-	-			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:144511954_144511956delTGG	uc003yyc.2	-	0	647_649	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H		NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) (MAFA), mRNA.	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(6)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			---	5	---	---	4	---					
PLEKHA1	59338	broad.mit.edu	37	10	124152792	124152792	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:124152792delC	uc001lge.2	+	1	325	c.76delC	c.(76-78)cttfs	p.L26fs	PLEKHA1_uc001lgf.2_Frame_Shift_Del_p.L26fs|PLEKHA1_uc001lgg.2_Frame_Shift_Del_p.L26fs	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	26	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGAAATTTCTTCGAAGGTA	0.368													---	29	---	---	15	---					
